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
ALDH8A1	64577	broad.mit.edu	37	6	135254135	135254135	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr6:135254135T>C	ENST00000265605.2	-	5	696	c.628A>G	c.(628-630)Acc>Gcc	p.T210A	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T210A|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T160A	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	210					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CTGGGCCCGGTTCCAAACACA	0.542000													18	24					0	0	0.000175454	0	0
ACOT8	10005	broad.mit.edu	37	20	44485829	44485829	+	Silent	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr20:44485829G>A	ENST00000217455.4	-	1	216	c.126C>T	c.(124-126)ttC>ttT	p.F42F		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	42					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CCGGCTACCTGAAGAGATCCT	0.662000													21	57					0	0	0.00047179	0	0
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662000													6	33					0	0	0.000442599	0	0
COL20A1	57642	broad.mit.edu	37	20	61941745	61941745	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr20:61941745G>A	ENST00000422202.1	+	10	1365	c.1297G>A	c.(1297-1299)Gga>Aga	p.G433R	COL20A1_ENST00000435874.1_Missense_Mutation_p.G433R|COL20A1_ENST00000358894.6_Missense_Mutation_p.G426R|COL20A1_ENST00000326996.6_Missense_Mutation_p.G426R			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	426	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGTGGTGGAGGGACCCGCCGC	0.672000													5	13					0	0	8.12818e-05	0	0
LDB3	11155	broad.mit.edu	37	10	88476097	88476097	+	Silent	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr10:88476097C>T	ENST00000429277.2	+	10	1405	c.1260C>T	c.(1258-1260)acC>acT	p.T420T	LDB3_ENST00000263066.6_Silent_p.T305T|LDB3_ENST00000458213.2_Silent_p.T305T|LDB3_ENST00000361373.4_Silent_p.T415T|LDB3_ENST00000352360.5_Silent_p.T158T	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	415						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTGCATCTACCTACAGCCCGT	0.572000													18	11					0	0	0.000175454	0	0
GCNT3	9245	broad.mit.edu	37	15	59911184	59911184	+	Silent	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr15:59911184G>A	ENST00000396065.1	+	3	1195	c.747G>A	c.(745-747)agG>agA	p.R249R	GCNT3_ENST00000560585.1_Silent_p.R249R	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	249					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAATGGGAGGAATAGCATGG	0.458000													88	89					0	0	0.000781405	0	0
TSPAN6	7105	broad.mit.edu	37	X	99887504	99887504	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chrX:99887504G>A	ENST00000373020.4	-	6	758	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_003270.2	NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	216					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						AACTCCAAAGGAAATTCCTGC	0.338000													11	1					0	0	0.000151284	0	0
ATF7IP	55729	broad.mit.edu	37	12	14610194	14610194	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr12:14610194G>A	ENST00000544627.1	+	8	2467	c.2147G>A	c.(2146-2148)aGt>aAt	p.S716N	ATF7IP_ENST00000543189.1_Missense_Mutation_p.S707N|ATF7IP_ENST00000541654.1_Intron|ATF7IP_ENST00000261168.4_Missense_Mutation_p.S708N|ATF7IP_ENST00000540793.1_Missense_Mutation_p.S708N|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S707N			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	708	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTAAGCGAGAGTGCACCACCA	0.363000													11	15					0	0	0.00010058	0	0
ZC3H3	23144	broad.mit.edu	37	8	144550575	144550575	+	Silent	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr8:144550575G>A	ENST00000262577.5	-	7	2113	c.2082C>T	c.(2080-2082)ccC>ccT	p.P694P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	694					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCACCTTCTCGGGATCGTGGA	0.672000													9	27					0	0	0.000274275	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764709	92764709	+	Silent	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr7:92764709G>A	ENST00000318238.4	-	5	1792	c.576C>T	c.(574-576)ctC>ctT	p.L192L	SAMD9L_ENST00000411955.1_Silent_p.L192L|SAMD9L_ENST00000437805.1_Silent_p.L192L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	192										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGGATCAATGAGATTGAGTG	0.393000													39	205					0	0	0.000953801	0	0
RAI1	10743	broad.mit.edu	37	17	17698878	17698878	+	Silent	SNP	C	C	G			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr17:17698878C>G	ENST00000353383.1	+	3	3085	c.2616C>G	c.(2614-2616)tcC>tcG	p.S872S	RAI1_ENST00000261641.6_Silent_p.S872S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	872						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGGAGTACTCCTCCCTATGTG	0.657000													9	3					0	0	0.000274275	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431171	140431171	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr5:140431171T>A	ENST00000306549.3	+	1	193	c.116T>A	c.(115-117)aTg>aAg	p.M39K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		39	Cadherin 1.				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)			GCAGAGGAAATGGAGAGCGGC	0.537000													14	18					0	0	0.000422831	0	0
ZNF385B	151126	broad.mit.edu	37	2	180308110	180308110	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr2:180308110G>A	ENST00000410066.1	-	10	1886	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	ZNF385B_ENST00000336917.5_Missense_Mutation_p.S326F|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.S352F|ZNF385B_ENST00000409692.1_Missense_Mutation_p.S326F	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	428						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CAGCGCTGAGGACACGGCTGC	0.627000													9	17					0	0	0.000673444	0	0
MPP7	143098	broad.mit.edu	37	10	28420536	28420536	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr10:28420536C>T	ENST00000337532.5	-	7	676	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	MPP7_ENST00000375719.3_Missense_Mutation_p.E134K|MPP7_ENST00000375732.1_Missense_Mutation_p.E134K|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000540098.1_Missense_Mutation_p.E134K|MPP7_ENST00000445954.2_Missense_Mutation_p.E9K	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	134					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ACTGAGTCTTCCTCATCGTCA	0.418000													36	13					0	0	0.00111076	0	0
MARCO	8685	broad.mit.edu	37	2	119752093	119752093	+	Silent	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr2:119752093C>T	ENST00000541757.1	+	18	1706	c.1326C>T	c.(1324-1326)gtC>gtT	p.V442V	MARCO_ENST00000327097.4_Silent_p.V520V			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	520	SRCR.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGTGCAGCGTCTGACCCGGAA	0.607000													23	27					0	0	0.000375601	0	0
NCOR1	9611	broad.mit.edu	37	17	16024512	16024512	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr17:16024512G>A	ENST00000268712.3	-	16	1963	c.1706C>T	c.(1705-1707)cCc>cTc	p.P569L	NCOR1_ENST00000395851.1_Missense_Mutation_p.P569L|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Missense_Mutation_p.P460L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	569					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCGCCCCCGGGGTGTGGCTTG	0.537000													49	72					0	0	0.000781405	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407266	62407266	+	Silent	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr20:62407266C>T	ENST00000245663.4	-	3	1137	c.987G>A	c.(985-987)gaG>gaA	p.E329E	ZBTB46_ENST00000395104.1_Silent_p.E329E|ZBTB46_ENST00000302995.2_Silent_p.E329E	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCTCGGCCCTCTCTCCTCGGC	0.642000													30	26					0	0	0.000491102	0	0
DNAH5	1767	broad.mit.edu	37	5	13871819	13871819	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr5:13871819C>T	ENST00000265104.4	-	23	3556	c.3452G>A	c.(3451-3453)gGa>gAa	p.G1151E	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1151	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTTCTTTTCCCTTTTGCCA	0.353000									Kartagener syndrome				18	22					0	0	0.00074312	0	0
C6orf118	168090	broad.mit.edu	37	6	165706950	165706950	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr6:165706950C>T	ENST00000543069.1	-	6	1341	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	C6orf118_ENST00000230301.8_Missense_Mutation_p.E358K			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	358										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ATCTCCAGTTCACTTCTGAGT	0.438000													58	173					0	0	0.000781405	0	0
GGT1	2678	broad.mit.edu	37	22	25011077	25011077	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr22:25011077C>T	ENST00000400382.1	+	7	1120	c.365C>T	c.(364-366)tCg>tTg	p.S122L	GGT1_ENST00000248923.4_Missense_Mutation_p.S122L|GGT1_ENST00000400380.1_Missense_Mutation_p.S122L|GGT1_ENST00000400383.1_Missense_Mutation_p.S122L|GGT1_ENST00000406383.2_Missense_Mutation_p.S122L			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	122					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TTCAACAGCTCGGAGCAGTCC	0.652000													17	20					0	0	0.000175454	0	0
SLC22A17	51310	broad.mit.edu	37	14	23817500	23817500	+	Silent	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr14:23817500G>A	ENST00000354772.3	-	6	1211	c.708C>T	c.(706-708)ttC>ttT	p.F236F	SLC22A17_ENST00000397260.3_Silent_p.F125F|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.F236F|SLC22A17_ENST00000206544.8_Silent_p.F236F	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	236					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CGGACTCCAGGAACAAACCAG	0.617000													45	59					0	0	0.000781405	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928048	31928048	+	Silent	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr6:31928048C>T	ENST00000375394.2	+	4	401	c.288C>T	c.(286-288)gcC>gcT	p.A96A	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	96						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCCTGGGAGCCCCAGTCCCAT	0.522000													95	397					0	0	0.000781405	0	0
EDEM3	80267	broad.mit.edu	37	1	184672095	184672095	+	Silent	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:184672095G>A	ENST00000318130.8	-	19	2505	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	EDEM3_ENST00000367512.3_Silent_p.L704L|EDEM3_ENST00000466392.1_5'UTR	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	747	PA.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATCTGGAACAGAGGGGCAGTA	0.418000													17	34					0	0	0.000132079	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361257	70361257	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr4:70361257T>C	ENST00000305107.6	-	1	369	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.Y108C|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	108					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTGTGAAAAATATGACCAAAA	0.318000													12	14					0	0	0.000978159	0	0
OR52E6	390078	broad.mit.edu	37	11	5862851	5862851	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr11:5862851C>T	ENST00000329322.5	-	1	276	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	OR52E6_ENST00000379946.2_Missense_Mutation_p.E97K|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGATATTTCCTTGATATTG	0.473000													13	78					0	0	0.000219431	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829696	106829696	+	RNA	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr14:106829696G>A	ENST00000390616.2	-	0	297																											CTCGACTCTTGAGGGACGGGT	0.557000													67	76					0	0	0.000781405	0	0
SPATA16	83893	broad.mit.edu	37	3	172834933	172834933	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr3:172834933C>T	ENST00000351008.3	-	2	772	c.589G>A	c.(589-591)Gga>Aga	p.G197R		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	197					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGAACTGTCCTGCTGCCAAG	0.408000													42	84					0	0	0.000781405	0	0
TTLL5	23093	broad.mit.edu	37	14	76135802	76135802	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr14:76135802C>T	ENST00000298832.9	+	3	323	c.118C>T	c.(118-120)Cca>Tca	p.P40S	TTLL5_ENST00000556977.1_Missense_Mutation_p.P40S|TTLL5_ENST00000286650.5_Missense_Mutation_p.P40S|TTLL5_ENST00000557636.1_Missense_Mutation_p.P40S	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	40					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAGGAGAATTCCAGTTTTGGT	0.448000													95	119					0	0	0.000781405	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603189	140603189	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr5:140603189G>A	ENST00000239449.4	+	1	112	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		38	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.E38K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTGGCAGAGGAAACAGAAAT	0.502000													19	22					0	0	0.000132079	0	0
TSSC2	650368	broad.mit.edu	37	11	3429978	3429978	+	RNA	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr11:3429978G>A	ENST00000529482.1	+	0	2107																											AGAACCTGCGGGAGTCGCAGC	0.527000													14	9					0	0	0.000308642	0	0
XIRP2	129446	broad.mit.edu	37	2	168105430	168105430	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr2:168105430C>T	ENST00000409195.1	+	9	7617	c.7528C>T	c.(7528-7530)Ccc>Tcc	p.P2510S	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2288S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2510S|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2335					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACTTCAGCACCCAGGAAAAA	0.368000													31	40					0	0	0.000692331	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	36					0	0	0.00024832	0	0
MLLT6	4302	broad.mit.edu	37	17	36872623	36872623	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr17:36872623C>T	ENST00000325718.7	+	10	1131	c.1040C>T	c.(1039-1041)tCg>tTg	p.S347L	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	347					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TGCACAGTCTCGTCCCTGCAG	0.632000			T	MLL	AL								4	9					0	0	0.00024832	0	0
OR52N2	390077	broad.mit.edu	37	11	5841865	5841865	+	Silent	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr11:5841865G>A	ENST00000317037.2	+	1	322	c.300G>A	c.(298-300)ctG>ctA	p.L100L	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGCCTGCCTGGCCCAGATGT	0.517000													7	82					0	0	8.12818e-05	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835290	12835290	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:12835290C>T	ENST00000357726.4	+	1	307	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	94										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGAAGGTTCGCCCCAGGTG	0.592000													20	10					0	0	0.00047179	0	0
PDE6C	5146	broad.mit.edu	37	10	95400680	95400680	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr10:95400680G>A	ENST00000371447.3	+	14	1879	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	581					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)				TTTTTAGACAGGAAGATTAAA	0.368000													19	4					0	0	0.000958276	0	0
TACR2	6865	broad.mit.edu	37	10	71174729	71174729	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr10:71174729C>T	ENST00000373306.4	-	2	1102	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	187					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CCGCTGTCTTCGGGCCAGGCC	0.627000													28	6					0	0	0.000279167	0	0
TEX101	83639	broad.mit.edu	37	19	43922417	43922417	+	Silent	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr19:43922417G>A	ENST00000602198.1	+	8	1114	c.672G>A	c.(670-672)agG>agA	p.R224R	TEX101_ENST00000253435.7_Silent_p.R224R|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_Silent_p.R206R	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	206						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGTTTGTGAGGGAAGCGTGCC	0.527000													40	52					0	0	0.000270559	0	0
FARP1	10160	broad.mit.edu	37	13	98996100	98996100	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr13:98996100C>T	ENST00000376586.2	+	3	592	c.256C>T	c.(256-258)Cct>Tct	p.P86S	FARP1_ENST00000319562.6_Missense_Mutation_p.P86S|FARP1_ENST00000595437.1_Missense_Mutation_p.P86S			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	86	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCTCGAGTTTCCTGATCACAA	0.483000													34	55					0	0	0.000409698	0	0
ZNF18	7566	broad.mit.edu	37	17	11881421	11881421	+	Silent	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr17:11881421G>A	ENST00000322748.3	-	9	2107	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	ZNF18_ENST00000580613.1_3'UTR|ZNF18_ENST00000580306.1_Silent_p.F501F|ZNF18_ENST00000454073.3_Silent_p.F500F	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	501					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ATCTCTGAATGAAACTTTTCT	0.438000													15	36					0	0	0.000308642	0	0
TPSB2	64499	broad.mit.edu	37	16	1279725	1279725	+	RNA	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr16:1279725G>A	ENST00000430512.2	-	0	126				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000339687.6_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CTCGCTGCAGGGCCTGGCCTG	0.701000													7	14					0	0	0.000442599	0	0
SLC37A3	84255	broad.mit.edu	37	7	140035085	140035085	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr7:140035085G>A	ENST00000340308.3	-	12	1421	c.1310C>T	c.(1309-1311)aCt>aTt	p.T437I	SLC37A3_ENST00000447932.2_3'UTR|SLC37A3_ENST00000326232.9_3'UTR	NM_032295.2	NP_115671.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	0					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GTGGCTGGCAGTGTTGAGAGA	0.493000													68	30					0	0	0.000781405	0	0
MAGI2	9863	broad.mit.edu	37	7	78150951	78150951	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr7:78150951C>T	ENST00000354212.4	-	4	803	c.550G>A	c.(550-552)Ggt>Agt	p.G184S	MAGI2_ENST00000419488.1_Missense_Mutation_p.G184S|MAGI2_ENST00000535697.1_Missense_Mutation_p.G21S|MAGI2_ENST00000517762.1_5'UTR|MAGI2_ENST00000522391.1_Missense_Mutation_p.G184S|MAGI2_ENST00000536571.1_Missense_Mutation_p.G16S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	184	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTGGGGTACCGTAGTAATTG	0.383000													54	198					0	0	0.000781405	0	0
GPR32	2854	broad.mit.edu	37	19	51274504	51274504	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr19:51274504G>A	ENST00000270590.4	+	1	784	c.647G>A	c.(646-648)gGg>gAg	p.G216E		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	216						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CACATTATAGGGACCATTGGC	0.567000													17	24					0	0	0.000422831	0	0
SCN10A	6336	broad.mit.edu	37	3	38768522	38768522	+	Silent	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr3:38768522G>A	ENST00000449082.2	-	16	2661	c.2662C>T	c.(2662-2664)Ctg>Ttg	p.L888L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	888					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTCAATAGCAGGGCGATGAAC	0.552000													42	40					0	0	0.000680045	0	0
GMEB2	26205	broad.mit.edu	37	20	62236122	62236122	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr20:62236122G>A	ENST00000266068.1	-	2	681	c.203C>T	c.(202-204)tCc>tTc	p.S68F	GMEB2_ENST00000370077.1_Missense_Mutation_p.S68F|GMEB2_ENST00000370069.1_Missense_Mutation_p.S17F			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	68					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GAGCTGGGAGGAGGCTGTGAA	0.572000													33	92					0	0	0.000692331	0	0
CCDC136	64753	broad.mit.edu	37	7	128451908	128451908	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr7:128451908G>A	ENST00000297788.4	+	13	2450	c.2083G>A	c.(2083-2085)Ggt>Agt	p.G695S	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	695						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GTATGACGCCGGTCAGGCGAA	0.582000													5	93					0	0	3.59834e-05	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424434	47424434	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr19:47424434A>T	ENST00000404338.3	+	1	2502	c.2502A>T	c.(2500-2502)gaA>gaT	p.E834D		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	834					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AGCGGATTGAACTGTCTGTTC	0.433000													43	73					0	0	0.000781405	0	0
ZNF41	7592	broad.mit.edu	37	X	47315704	47315704	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chrX:47315704T>C	ENST00000377065.4	-	3	805	c.166A>G	c.(166-168)Aca>Gca	p.T56A	ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Missense_Mutation_p.T66A|ZNF41_ENST00000313116.7_Missense_Mutation_p.T56A	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	98						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TTCTCTAGTGTCACATCCCAG	0.552000													24	8					0	0	0.000878237	0	0
ITGAX	3687	broad.mit.edu	37	16	31384649	31384649	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr16:31384649G>A	ENST00000268296.4	+	20	2567	c.2446G>A	c.(2446-2448)Gga>Aga	p.G816R	ITGAX_ENST00000562522.1_Missense_Mutation_p.G816R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	816					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.G816*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGACTCCTACGGAACCACCAT	0.607000													15	26					0	0	0.000308642	0	0
LAMP3	27074	broad.mit.edu	37	3	182870284	182870284	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr3:182870284G>A	ENST00000265598.3	-	3	1022	c.767C>T	c.(766-768)tCa>tTa	p.S256L	LAMP3_ENST00000466939.1_Missense_Mutation_p.S232L	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	256					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TCTCCGAGGTGAAAAAACCTA	0.453000													88	122					0	0	0.000781405	0	0
MUC17	140453	broad.mit.edu	37	7	100693870	100693870	+	Silent	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr7:100693870C>T	ENST00000306151.4	+	7	12892	c.12828C>T	c.(12826-12828)atC>atT	p.I4276I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4276	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGAGAAAATCACAAAAGTGA	0.473000													66	29					0	0	0.000781405	0	0
SMC5	23137	broad.mit.edu	37	9	72879317	72879317	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr9:72879317C>T	ENST00000361138.5	+	2	341	c.283C>T	c.(283-285)Ctt>Ttt	p.L95F		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	95					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TGCCATTTGCCTTGGTTTAGC	0.383000													32	68					0	0	0.000953801	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457825	5457825	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr5:5457825C>T	ENST00000296564.7	+	12	1294	c.1072C>T	c.(1072-1074)Ccg>Tcg	p.P358S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	358	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATCACCTCACCCGGGTTCCTT	0.458000													96	150					0	0	0.000781405	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417222	150417222	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr7:150417222G>T	ENST00000307194.5	+	3	270	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCGCCACTGGGAACAGCAT	0.637000													48	141					1.30916e-28	3.06369e-27	0.000781405	1	0
CSPG4	1464	broad.mit.edu	37	15	75982869	75982869	+	Silent	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr15:75982869G>A	ENST00000308508.5	-	3	629	c.537C>T	c.(535-537)agC>agT	p.S179S		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	179	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCGGAGGAGGCTGCGGCCAT	0.642000													25	44					0	0	0.00106085	0	0
KCNS3	3790	broad.mit.edu	37	2	18112675	18112675	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr2:18112675G>A	ENST00000403915.1	+	3	851	c.400G>A	c.(400-402)Gac>Aac	p.D134N	KCNS3_ENST00000304101.4_Missense_Mutation_p.D134N|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	134					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAAGGACTGGGACCAGAAAAG	0.502000													23	40					0	0	0.000375601	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31487500	31487500	+	Silent	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr16:31487500C>T	ENST00000394863.3	+	8	1012	c.882C>T	c.(880-882)atC>atT	p.I294I	TGFB1I1_ENST00000567607.1_Silent_p.I277I|TGFB1I1_ENST00000361773.3_Silent_p.I277I|TGFB1I1_ENST00000394858.2_Silent_p.I277I	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	294	LIM zinc-binding 2.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						ACCAGCCCATCCGACACGTGA	0.667000													21	38					0	0	0.00047179	0	0
SYCE1	93426	broad.mit.edu	37	10	135368926	135368926	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr10:135368926C>T	ENST00000368517.3	-	12	877	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	SYCE1_ENST00000343131.5_Missense_Mutation_p.E283K|SYCE1_ENST00000432597.2_Missense_Mutation_p.E247K|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	283					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCATGCTTTTCCAGCTCTTCC	0.562000													31	22					0	0	0.000409698	0	0
CD5L	922	broad.mit.edu	37	1	157803144	157803144	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:157803144G>A	ENST00000368174.4	-	5	973	c.877C>T	c.(877-879)Ccc>Tcc	p.P293S		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	293	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGAAGGAGGGAGAGAGGGAC	0.587000													29	78					0	0	0.000227799	0	0
CCDC30	728621	broad.mit.edu	37	1	43042868	43042868	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:43042868G>A	ENST00000428554.2	+	14	2176	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	CCDC30_ENST00000507855.1_Missense_Mutation_p.E134K|CCDC30_ENST00000390640.4_Missense_Mutation_p.E134K|CCDC30_ENST00000342022.4_Missense_Mutation_p.E345K|CCDC30_ENST00000340612.4_Missense_Mutation_p.E345K			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	345										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GCTGGTTCAGGAGAAATCTAA	0.393000													11	15					0	0	0.000673444	0	0
ZC3H3	23144	broad.mit.edu	37	8	144550576	144550576	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr8:144550576G>A	ENST00000262577.5	-	7	2112	c.2081C>T	c.(2080-2082)cCc>cTc	p.P694L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	694					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CACCTTCTCGGGATCGTGGAT	0.677000													9	28					0	0	0.000274275	0	0
TBCB	1155	broad.mit.edu	37	19	36616653	36616653	+	Missense_Mutation	SNP	C	C	T	rs1801989		TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr19:36616653C>T	ENST00000221855.3	+	6	1279	c.704C>T	c.(703-705)cCg>cTg	p.P235L	TBCB_ENST00000589996.1_3'UTR|TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000585746.1_Missense_Mutation_p.P184L	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	235					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGGACTTCCCGGAGGAGGAC	0.572000													37	77					0	0	0.000953801	0	0
TREM2	54209	broad.mit.edu	37	6	41126821	41126821	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr6:41126821G>A	ENST00000373122.4	-	4	526	c.506C>T	c.(505-507)cCt>cTt	p.P169L	TREM2_ENST00000373113.3_Intron|TREM2_ENST00000338469.3_Intron			Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	169					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGACAAGAAGGCAGATGGGA	0.522000													11	17					0	0	0.000151284	0	0
RGPD3	653489	broad.mit.edu	37	2	107040225	107040225	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr2:107040225C>T	ENST00000409886.3	-	20	4285	c.4198G>A	c.(4198-4200)Gac>Aac	p.D1400N	RGPD3_ENST00000304514.7_Missense_Mutation_p.D1400N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1400	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AATACTTGGTCCCTTCTCATC	0.363000													119	207					0	0	0.000781405	0	0
OR10H4	126541	broad.mit.edu	37	19	16060553	16060553	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr19:16060553C>T	ENST00000322107.1	+	1	736	c.736C>T	c.(736-738)Cac>Tac	p.H246Y		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GTGTGTATCCCACCTCACTGT	0.502000													42	62					0	0	0.000319135	0	0
AC096579.13	0	broad.mit.edu	37	2	89156800	89156800	+	RNA	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr2:89156800G>A	ENST00000452230.1	-	0	39				IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA																							GTCCCCTGTGGAAAAAGGGTC	0.547000													9	10					0	0	0.000274275	0	0
CHIT1	1118	broad.mit.edu	37	1	203188818	203188818	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:203188818C>T	ENST00000367229.1	-	8	923	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	CHIT1_ENST00000255427.3_Missense_Mutation_p.E278K|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.E288K	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	297					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						ATCCCTCCTTCCTTGGTGAAG	0.587000													22	61					0	0	0.000720815	0	0
WFDC8	90199	broad.mit.edu	37	20	44187499	44187499	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr20:44187499G>T	ENST00000357199.4	-	3	347	c.269C>A	c.(268-270)cCc>cAc	p.P90H	WFDC8_ENST00000289953.2_Missense_Mutation_p.P90H	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	90	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				ACCTTGAAAGGGATCCATGCA	0.502000													63	45					3.09758e-43	7.31731e-42	0.000781405	1	0
DDN	23109	broad.mit.edu	37	12	49392427	49392427	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr12:49392427G>A	ENST00000421952.2	-	2	253	c.232C>T	c.(232-234)Cca>Tca	p.P78S	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	78						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GGCGGCTGTGGGGATCCCGGG	0.731000													3	4					0	0	0.000602214	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564491	66564491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr18:66564491G>A	ENST00000360242.5	+	6	1206	c.1089G>A	c.(1087-1089)tgG>tgA	p.W363*	CCDC102B_ENST00000584156.1_Nonsense_Mutation_p.W363*|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Nonsense_Mutation_p.W363*|CCDC102B_ENST00000319445.6_Nonsense_Mutation_p.W363*	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	363										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCTCGGAGTGGGACAAGAGGG	0.428000													29	60					0	0	0.00058488	0	0
CSMD1	64478	broad.mit.edu	37	8	2823399	2823399	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr8:2823399T>C	ENST00000520002.1	-	60	9736	c.9181A>G	c.(9181-9183)Agc>Ggc	p.S3061G	CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.S3060G|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.S3061G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3061	Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACTGATAGCTCACAGTCTTG	0.488000													3	22					0	0	6.4e-05	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928049	31928049	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr6:31928049C>T	ENST00000375394.2	+	4	402	c.289C>T	c.(289-291)Cca>Tca	p.P97S	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	97						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CCTGGGAGCCCCAGTCCCATC	0.522000													93	393					0	0	0.000781405	0	0
TPSB2	64499	broad.mit.edu	37	16	1279726	1279726	+	RNA	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr16:1279726G>A	ENST00000430512.2	-	0	125				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000339687.6_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				TCGCTGCAGGGCCTGGCCTGG	0.706000													6	14					0	0	0.000274275	0	0
BRD2	6046	broad.mit.edu	37	6	32945938	32945938	+	Silent	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr6:32945938C>T	ENST00000395289.2	+	10	3215	c.1614C>T	c.(1612-1614)tcC>tcT	p.S538S	BRD2_ENST00000449085.2_Silent_p.S491S|BRD2_ENST00000374831.4_Silent_p.S538S|BRD2_ENST00000443797.2_Silent_p.S418S|BRD2_ENST00000395287.1_Silent_p.S538S|BRD2_ENST00000374825.4_Silent_p.S538S			P25440	BRD2_HUMAN	bromodomain containing 2	538					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTGCTCTGTCCCAGGGTCCAA	0.418000													18	39					0	0	0.00074312	0	0
GON4L	54856	broad.mit.edu	37	1	155736300	155736300	+	Silent	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:155736300G>A	ENST00000437809.1	-	21	3086	c.2964C>T	c.(2962-2964)ttC>ttT	p.F988F	GON4L_ENST00000361040.5_Silent_p.F988F|GON4L_ENST00000271883.5_Silent_p.F988F|GON4L_ENST00000368331.1_Silent_p.F988F|GON4L_ENST00000471341.1_5'UTR			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	988				F -> S (in Ref. 1; AAR01262 and 2; CAD97829).	regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTTCCTGGGGAAACGGGTGG	0.537000													42	56					0	0	0.000319135	0	0
RSG1	79363	broad.mit.edu	37	1	16559022	16559022	+	Silent	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:16559022C>T	ENST00000375599.3	-	4	929	c.510G>A	c.(508-510)agG>agA	p.R170R		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	170	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						CGATGACCATCCTGACGACAC	0.597000													12	3					0	0	0.000308642	0	0
FAM46C	54855	broad.mit.edu	37	1	118165657	118165657	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:118165657G>A	ENST00000369448.3	+	2	414	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	56										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CAGACCGTCCGCAGTCGGCTG	0.567000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			22	27					0	0	0.000229342	0	0
GAPDH	2597	broad.mit.edu	37	12	6647267	6647267	+	Splice_Site	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr12:6647267G>A	ENST00000229239.5	+	9	1605	c.938_splice	c.e9-1	p.W313_splice	GAPDH_ENST00000396856.1_Splice_Site_p.W238_splice|GAPDH_ENST00000396859.1_Splice_Site_p.W313_splice|GAPDH_ENST00000396858.1_Splice_Site_p.W271_splice|GAPDH_ENST00000396861.1_Splice_Site_p.W313_splice|RP5-940J5.9_ENST00000602946.1_RNA	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	313					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	CATCTTCTAGGTATGACAACG	0.567000											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	48					0	0	0.000184323	0	0
GPR137	56834	broad.mit.edu	37	11	64056722	64056722	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr11:64056722C>T	ENST00000411458.1	+	9	1341	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L	GPR137_ENST00000438980.2_3'UTR|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P380L	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	380						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CACCCTAGGCCCCTGTGCCAA	0.647000													30	27					0	0	0.000227799	0	0
LINC00842	643650	broad.mit.edu	37	10	47133696	47133696	+	RNA	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr10:47133696C>T	ENST00000422732.2	-	0	435					NR_033957.1																						accaAAGTTTCCAGAACCACT	0.488000													16	19					0	0	0.000422831	0	0
FGF13	2258	broad.mit.edu	37	X	137793186	137793186	+	Translation_Start_Site	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chrX:137793186C>T	ENST00000315930.6	-	0	641				FGF13_ENST00000541469.1_Intron|FGF13_ENST00000305414.4_Intron|FGF13_ENST00000441825.2_Intron|FGF13_ENST00000370603.3_Intron	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13						cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CCCACCACCACCGCTTCTTTT	0.642000													21	0					0	0	0.000229342	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886764	9886764	+	Silent	SNP	C	C	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr18:9886764C>A	ENST00000306084.6	+	2	487	c.288C>A	c.(286-288)acC>acA	p.T96T	TXNDC2_ENST00000357775.4_Silent_p.T29T|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Silent_p.T29T|TXNDC2_ENST00000584255.1_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	96					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CAGCAAACACCAGCCATCCCA	0.572000													12	18					6.40141e-05	0.00144407	0.000978159	1	0
DMRT3	58524	broad.mit.edu	37	9	990578	990578	+	Missense_Mutation	SNP	G	G	A	rs147923658		TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr9:990578G>A	ENST00000190165.2	+	2	1030	c.992G>A	c.(991-993)gGa>gAa	p.G331E		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	331					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TGGTCTGTGGGATCAGCCTTT	0.567000													31	5					0	0	0.000227799	0	0
VPRBP	9730	broad.mit.edu	37	3	51450468	51450468	+	Silent	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr3:51450468G>A	ENST00000335891.5	-	14	2751	c.2742C>T	c.(2740-2742)gaC>gaT	p.D914D				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1363					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CAAGATAGCAGTCTTTGGTGT	0.413000													18	28					0	0	0.000175454	0	0
C17orf104	284071	broad.mit.edu	37	17	42744063	42744063	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr17:42744063G>T	ENST00000409122.2	+	5	926	c.784G>T	c.(784-786)Gaa>Taa	p.E262*	C17orf104_ENST00000409464.1_Nonsense_Mutation_p.E96*|C17orf104_ENST00000359945.3_Nonsense_Mutation_p.E262*	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	262										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AACATTCCAAGAATATCCACT	0.363000													18	16					8.00594e-06	0.000182244	0.000958276	1	0
ALDH1A1	216	broad.mit.edu	37	9	75524517	75524517	+	Splice_Site	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr9:75524517C>T	ENST00000297785.3	-	11	1413		c.e11+1			NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1						cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GTTGGACTTACCACACTGTTC	0.383000													26	38					0	0	0.000586117	0	0
APBB3	10307	broad.mit.edu	37	5	139940274	139940274	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr5:139940274G>A	ENST00000357560.4	-	11	1425	c.982C>T	c.(982-984)Ccc>Tcc	p.P328S	APBB3_ENST00000354402.5_Missense_Mutation_p.P335S|APBB3_ENST00000358580.5_Intron|APBB3_ENST00000511201.2_Intron|APBB3_ENST00000412920.3_Missense_Mutation_p.P326S|APBB3_ENST00000356738.2_Missense_Mutation_p.P333S|APBB3_ENST00000508496.2_Missense_Mutation_p.P105S	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	328	PID 2.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCATGGTGGGGACCCAGGCA	0.597000													13	15					0	0	0.000308642	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				81	39					0	0	0.000781405	0	0
UCKL1	54963	broad.mit.edu	37	20	62576048	62576048	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr20:62576048T>A	ENST00000369908.5	-	6	948	c.649A>T	c.(649-651)Atc>Ttc	p.I217F	UCKL1_ENST00000369892.3_Missense_Mutation_p.I232F|UCKL1_ENST00000354216.6_Missense_Mutation_p.I232F|UCKL1_ENST00000358711.3_Missense_Mutation_p.I232F	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	232					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ACCAGGCGGATGTCGGAGTCT	0.607000													38	36					0	0	0.000781405	0	0
JAM2	58494	broad.mit.edu	37	21	27071173	27071173	+	Silent	SNP	T	T	C			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr21:27071173T>C	ENST00000480456.1	+	5	1129	c.579T>C	c.(577-579)aaT>aaC	p.N193N	JAM2_ENST00000400532.1_Silent_p.N193N|JAM2_ENST00000312957.5_Silent_p.N193N|JAM2_ENST00000425221.2_Silent_p.N157N	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	193	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						ACACAATGAATACAAAAACTG	0.373000													14	29					0	0	0.000566183	0	0
FAT4	79633	broad.mit.edu	37	4	126373002	126373002	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr4:126373002C>T	ENST00000394329.3	+	9	10844	c.10831C>T	c.(10831-10833)Cct>Tct	p.P3611S	FAT4_ENST00000335110.5_Missense_Mutation_p.P1909S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3611	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGACAATCCTTCACAGTC	0.428000													35	54					0	0	0.000270559	0	0
OR10T2	128360	broad.mit.edu	37	1	158368474	158368474	+	Silent	SNP	C	C	T	rs145637310		TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:158368474C>T	ENST00000334438.1	-	1	782	c.783G>A	c.(781-783)cgG>cgA	p.R261R		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TGGACTTGGGCCGCAGATAGA	0.512000													11	47					0	0	0.00010058	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898827	130898827	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr12:130898827G>A	ENST00000261655.4	-	14	2658	c.2495C>T	c.(2494-2496)tCt>tTt	p.S832F		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	832						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GAAGTCTGGAGAAAGGCGGTC	0.577000													36	59					0	0	0.000319135	0	0
RAG1	5896	broad.mit.edu	37	11	36595652	36595652	+	Silent	SNP	C	C	T	rs141654332	by1000genomes	TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr11:36595652C>T	ENST00000299440.5	+	2	910	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	266	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TGAAGAAGATCGCCAACTGCA	0.473000									Familial Hemophagocytic Lymphohistiocytosis				5	45					0	0	3.59834e-05	0	0
PRSS36	146547	broad.mit.edu	37	16	31153047	31153047	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr16:31153047C>T	ENST00000268281.4	-	11	1814	c.1756G>A	c.(1756-1758)Ggt>Agt	p.G586S	PRSS36_ENST00000418068.2_Missense_Mutation_p.G586S|PRSS36_ENST00000569305.1_Missense_Mutation_p.G581S	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	586					proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGCTCACCACCATGCTCTGTG	0.647000													25	23					0	0	0.000227799	0	0
LOXL3	84695	broad.mit.edu	37	2	74763971	74763971	+	Silent	SNP	G	G	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr2:74763971G>A	ENST00000264094.3	-	5	848	c.777C>T	c.(775-777)tcC>tcT	p.S259S	LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409549.1_Silent_p.S259S|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409249.1_Silent_p.S259S	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	259	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AGAACTCCAGGGAACAGAGGG	0.662000													21	40					0	0	0.000229342	0	0
RYR2	6262	broad.mit.edu	37	1	237813241	237813241	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:237813241C>T	ENST00000366574.2	+	50	7894	c.7577C>T	c.(7576-7578)cCa>cTa	p.P2526L	RYR2_ENST00000542537.1_Missense_Mutation_p.P2510L|RYR2_ENST00000360064.6_Missense_Mutation_p.P2524L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2526	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCGTCTTGCCATTGTTAACA	0.468000													60	148					0	0	0.000781405	0	0
ITPKB	3707	broad.mit.edu	37	1	226924876	226924884	+	In_Frame_Del	DEL	CTGCCGCTG	CTGCCGCTG	-	rs11278152		TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr1:226924876_226924884delCTGCCGCTG	ENST00000429204.1	-	2	603_611	c.276_284delCAGCGGCAG	c.(274-285)agt>ag	p.SSGS92del	ITPKB_ENST00000366784.1_In_Frame_Del_p.SSGS92del|ITPKB_ENST00000272117.3_In_Frame_Del_p.SSGS92del	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	92							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTCACgctactgccgctgctgccgctgc	0.746													8	13	---	---	---	---					
VILL	50853	broad.mit.edu	37	3	38035430	38035431	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr3:38035430_38035431insT	ENST00000283713.6	+	3	368_369	c.102_103insT	c.(100-105)aattttfs	p.NF34fs	VILL_ENST00000383759.2_Frame_Shift_Ins_p.NF34fs			O15195	VILL_HUMAN	villin-like	34					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTTACGGGAACTTTTTTGAGGA	0.599													40	83	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89693002	89693003	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr10:89693002_89693003insA	ENST00000371953.3	+	5	1843_1844	c.486_487insA	c.(484-489)gaaaaafs	p.EK162fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	162	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K163*(2)|p.Y27fs*1(2)|p.F56fs*2(1)|p.D162fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACCAGAGACAAAAAGGTAAG	0.351		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			17	10	---	---	---	---					
NLK	51701	broad.mit.edu	37	17	26518151	26518168	+	In_Frame_Del	DEL	TGGAAGAGTTTATACCAG	TGGAAGAGTTTATACCAG	-			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr17:26518151_26518168delTGGAAGAGTTTATACCAG	ENST00000407008.3	+	9	2059_2076	c.1341_1358delTGGAAGAGTTTATACCAG	c.(1339-1359)act>ac	p.TGRVYTS447del		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	447					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCACCTCCACTGGAAGAGTTTATACCAGTGACTTTGAG	0.445													18	58	---	---	---	---					
MIR3648-1	100500862	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs3052281		TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr21:9825838_9825839insGCG	ENST00000581792.1	+	0	7_8					NR_037421.1																						cggccgcgactgcggcggcggt	0.842													3	4	---	---	---	---					
TUBGCP6	85378	broad.mit.edu	37	22	50657854	50657854	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GF-A2C7-01A-11D-A197-08	TCGA-GF-A2C7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea4af682-faeb-475f-a84c-2b3858620fc6	2f132c4a-f0c8-4b73-b4d8-9aebf13a6911	g.chr22:50657854delG	ENST00000439308.2	-	19	4898	c.4406delC	c.(4405-4407)cgfs	p.P1469fs	TUBGCP6_ENST00000248846.5_Frame_Shift_Del_p.P1449fs|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	0					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGGGAAGCACGGGGCGCAAAA	0.687													2	4	---	---	---	---					
