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
MTHFR	4524	broad.mit.edu	37	1	11860307	11860307	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:11860307C>T	ENST00000376592.1	-	3	676	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	MTHFR_ENST00000376585.1_Missense_Mutation_p.R224Q|MTHFR_ENST00000376583.3_Missense_Mutation_p.R224Q|MTHFR_ENST00000376590.3_Missense_Mutation_p.R183Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	183					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	AAACTCACTTCGGATGTGCTT	0.567													5	266	---	---	---	---
HNRNPCL1	343069	broad.mit.edu	37	1	12908039	12908039	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:12908039G>A	ENST00000317869.6	-	2	329	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGAAAAGATCGCCTCCACATC	0.473													6	184	---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65142590	65142590	+	Silent	SNP	C	C	T	rs150699745		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:65142590C>T	ENST00000371073.2	+	22	2988	c.2988C>T	c.(2986-2988)tgC>tgT	p.C996C	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.C945C			Q5VU97	CAHD1_HUMAN	cache domain containing 1	996					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACCCCAGCTGCGAGGTCCACC	0.547													27	198	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158627418	158627418	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:158627418C>T	ENST00000368147.4	-	19	2834	c.2654G>A	c.(2653-2655)cGt>cAt	p.R885H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCTCGAGCACGGAGAGACTC	0.468													15	187	---	---	---	---
CD48	962	broad.mit.edu	37	1	160654785	160654785	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:160654785C>T	ENST00000368045.3	-	2	316	c.277G>A	c.(277-279)Gca>Aca	p.A93T	CD48_ENST00000368046.3_Missense_Mutation_p.A93T			P09326	CD48_HUMAN	CD48 molecule	93	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGTACAGTGCGCCACTCTGA	0.423													4	166	---	---	---	---
GCSAML	148823	broad.mit.edu	37	1	247712451	247712451	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:247712451G>T	ENST00000366490.3	+	4	478	c.320G>T	c.(319-321)tGg>tTg	p.W107L	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366488.4_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000536561.1_5'UTR					germinal center-associated, signaling and motility-like																		TTCCCCAAGTGGAGTGAAACT	0.517													3	53	---	---	---	---
FAM228A	653140	broad.mit.edu	37	2	24406452	24406452	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:24406452T>A	ENST00000295150.3	+	5	425	c.339T>A	c.(337-339)tgT>tgA	p.C113*	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1			family with sequence similarity 228, member A																		CTTCACACTGTGTGATTCCAA	0.408													3	43	---	---	---	---
LRPPRC	10128	broad.mit.edu	37	2	44121719	44121719	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:44121719T>C	ENST00000260665.7	-	36	4007	c.3950A>G	c.(3949-3951)aAg>aGg	p.K1317R		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1317	RNA-binding.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCTTCTTCCTTTTCATTTAA	0.269													3	81	---	---	---	---
DQX1	165545	broad.mit.edu	37	2	74750268	74750268	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:74750268C>T	ENST00000404568.3	-	6	1341	c.1122G>A	c.(1120-1122)ttG>ttA	p.L374L	DQX1_ENST00000393951.2_Silent_p.L374L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	374	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTCTTGCTCGCAATCGTCTTG	0.507													7	193	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109365452	109365452	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:109365452C>T	ENST00000283195.6	+	9	1266	c.1140C>T	c.(1138-1140)agC>agT	p.S380S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	380					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCAACAAAAGCGGGCAGTCTG	0.353													6	232	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170136033	170136033	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:170136033G>A	ENST00000263816.3	-	12	1699	c.1414C>T	c.(1414-1416)Ctg>Ttg	p.L472L	LRP2_ENST00000443831.1_Silent_p.L472L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	472					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCCACAGCCAGGTTCTCTGGG	0.353													19	77	---	---	---	---
DNPEP	23549	broad.mit.edu	37	2	220251660	220251660	+	Translation_Start_Site	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:220251660C>T	ENST00000373972.1	-	0	194				DNPEP_ENST00000523282.1_Missense_Mutation_p.S66N|DNPEP_ENST00000273075.4_Missense_Mutation_p.S58N			Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase						peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CTTGAGTTCACTGAAGCCAGC	0.587													16	79	---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38139333	38139333	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:38139333G>A	ENST00000308059.6	+	18	2685	c.2664G>A	c.(2662-2664)caG>caA	p.Q888Q	DLEC1_ENST00000346219.3_Silent_p.Q888Q|DLEC1_ENST00000452631.2_Silent_p.Q888Q			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	888					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACGTCAGCCAGCTCCCAGCCA	0.597													3	76	---	---	---	---
UROC1	131669	broad.mit.edu	37	3	126216983	126216983	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:126216983C>T	ENST00000290868.2	-	14	1402	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	450			R -> C (in UROD; loss of activity).		histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCACACCCAGCGGAAAGGCCC	0.627													9	250	---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196735710	196735710	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:196735710T>G	ENST00000296350.5	-	12	1765	c.1652A>C	c.(1651-1653)gAg>gCg	p.E551A		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	551	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTAATACCGCTCCTGGCTGTT	0.672													6	77	---	---	---	---
SLC45A2	51151	broad.mit.edu	37	5	33947262	33947262	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:33947262G>A	ENST00000382102.3	-	6	1431	c.1374C>T	c.(1372-1374)tgC>tgT	p.C458C	SLC45A2_ENST00000296589.4_Intron|SLC45A2_ENST00000342059.3_Intron	NM_001012509.2	NP_001012527	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	0					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TTCAATGACAGCACACCTCCT	0.498													4	262	---	---	---	---
CCL28	56477	broad.mit.edu	37	5	43382044	43382044	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:43382044C>A	ENST00000361115.4	-	3	376	c.302G>T	c.(301-303)aGg>aTg	p.R101M	CCL28_ENST00000513525.1_Missense_Mutation_p.R54M	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	101					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						GTGTTTCTTCCTGTGGCAAAC	0.443													5	175	---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140605164	140605164	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:140605164C>T	ENST00000239449.4	+	1	2087	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S543L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		696					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			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)			GCATTGGCCTCGGTGTCGTCG	0.711													4	203	---	---	---	---
MAK	4117	broad.mit.edu	37	6	10784683	10784683	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:10784683T>C	ENST00000313243.2	-	11	1821	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.Y480C|MAK_ENST00000538030.1_3'UTR|MAK_ENST00000474039.1_Missense_Mutation_p.Y480C			P20794	MAK_HUMAN	male germ cell-associated kinase	480					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TTGTTTCAAGTAGTACTGTTT	0.418													6	84	---	---	---	---
MOXD1	26002	broad.mit.edu	37	6	132645229	132645229	+	Silent	SNP	T	T	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:132645229T>G	ENST00000367963.3	-	7	1072	c.954A>C	c.(952-954)atA>atC	p.I318I	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.I250I	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	318					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CAGAATTATCTATTAAGCCTA	0.348													5	65	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55540415	55540415	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr8:55540415G>A	ENST00000220676.1	+	4	4121	c.3973G>A	c.(3973-3975)Gga>Aga	p.G1325R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1325					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCTATGAGGGAGCTTGCCC	0.393													26	108	---	---	---	---
CCDC180	100499483	broad.mit.edu	37	9	100132347	100132347	+	Missense_Mutation	SNP	C	C	T	rs141047389		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr9:100132347C>T	ENST00000375202.2	+	46	5817	c.4465C>T	c.(4465-4467)Cgg>Tgg	p.R1489W	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.R1434W|CCDC180_ENST00000529487.1_Missense_Mutation_p.R1489W					coiled-coil domain containing 180																		ACAGCAGAAGCGGCTGGAGAA	0.542													4	29	---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26513522	26513522	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:26513522G>T	ENST00000376261.3	+	6	1169	c.666G>T	c.(664-666)aaG>aaT	p.K222N	GAD2_ENST00000259271.3_Missense_Mutation_p.K222N|GAD2_ENST00000376248.1_Missense_Mutation_p.K108N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	222					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TCACACTAAAGAAAATGAGAG	0.378													5	120	---	---	---	---
CSTF2T	23283	broad.mit.edu	37	10	53458034	53458034	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:53458034C>T	ENST00000331173.4	-	1	1321	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	426	9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TCTAAGACCTCAGTTTCCATG	0.527													8	90	---	---	---	---
SLCO2B1	11309	broad.mit.edu	37	11	74904264	74904264	+	Splice_Site	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr11:74904264C>A	ENST00000289575.5	+	9	1472	c.1077C>A	c.(1075-1077)gtC>gtA	p.V359V	SLCO2B1_ENST00000428359.2_Splice_Site_p.V337V|SLCO2B1_ENST00000531756.1_Splice_Site_p.V104V|SLCO2B1_ENST00000454962.2_Splice_Site_p.V132V|SLCO2B1_ENST00000525650.1_Splice_Site_p.V215V|SLCO2B1_ENST00000532236.1_Splice_Site_p.V243V|SLCO2B1_ENST00000341411.4_Splice_Site_p.V132V	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	359					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CCCCCACAGTCTTCCCCAGGG	0.617													5	120	---	---	---	---
PRKAG1	5571	broad.mit.edu	37	12	49398943	49398943	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:49398943C>A	ENST00000548065.1	-	6	771	c.315G>T	c.(313-315)caG>caT	p.Q105H	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q54H|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q21H|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q73H|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q114H|RP11-386G11.5_ENST00000547866.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	105					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						GCTCATAGATCTGTACCTGAA	0.423													5	118	---	---	---	---
ZDHHC17	23390	broad.mit.edu	37	12	77222174	77222174	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:77222174T>C	ENST00000426126.2	+	10	1694	c.1045T>C	c.(1045-1047)Ttt>Ctt	p.F349L	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.F349L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	349					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTACAGATCCTTTTTCGATCA	0.308													3	197	---	---	---	---
DEGS2	123099	broad.mit.edu	37	14	100613237	100613237	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr14:100613237T>G	ENST00000305631.5	-	3	1408	c.833A>C	c.(832-834)aAg>aCg	p.K278T	DEGS2_ENST00000553834.1_Missense_Mutation_p.E30D	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	278					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GGGCGCGATCTTCCGCACCTG	0.657													7	87	---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42147470	42147470	+	Silent	SNP	C	C	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:42147470C>T	ENST00000320955.6	-	55	9602	c.9375G>A	c.(9373-9375)gcG>gcA	p.A3125A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3125					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGGCGGTGGCCGCCTTGGTGG	0.677													3	44	---	---	---	---
C15orf26	161502	broad.mit.edu	37	15	81427611	81427611	+	Splice_Site	SNP	G	G	T			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:81427611G>T	ENST00000286732.4	+	2	153	c.70G>T	c.(70-72)Gag>Tag	p.E24*		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	24										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TTCTGTTTAGGAGCTCATGAA	0.338													5	53	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89398620	89398620	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:89398620G>A	ENST00000439576.2	+	12	3178	c.2804G>A	c.(2803-2805)gGt>gAt	p.G935D	ACAN_ENST00000352105.7_Missense_Mutation_p.G935D|ACAN_ENST00000561243.1_Missense_Mutation_p.G935D|ACAN_ENST00000559004.1_Missense_Mutation_p.G935D	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	935					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTACGGTTGGTGAACTGCCC	0.557													4	34	---	---	---	---
HS3ST2	9956	broad.mit.edu	37	16	22926769	22926769	+	Silent	SNP	A	A	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:22926769A>G	ENST00000261374.3	+	2	1424	c.990A>G	c.(988-990)aaA>aaG	p.K330K		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	330						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GCAAATCAAAAGGGAGAACTC	0.418													4	201	---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57088675	57088675	+	Silent	SNP	G	G	A	rs148506460		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:57088675G>A	ENST00000436936.1	+	25	3744	c.3519G>A	c.(3517-3519)acG>acA	p.T1173T	NLRC5_ENST00000308149.7_Silent_p.T1173T|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Silent_p.T1173T|NLRC5_ENST00000262510.6_Silent_p.T1173T			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1173					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGAGCCAGACGGGACTGTCCC	0.592													5	410	---	---	---	---
GINS3	64785	broad.mit.edu	37	16	58437218	58437218	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:58437218T>C	ENST00000318129.5	+	2	611	c.403T>C	c.(403-405)Tcc>Ccc	p.S135P	GINS3_ENST00000426538.2_Missense_Mutation_p.S174P|GINS3_ENST00000328514.7_Intron	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	135					DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						TGCAGACATTTCCCAGTCTCT	0.517													11	29	---	---	---	---
MRPS23	51649	broad.mit.edu	37	17	55917219	55917219	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr17:55917219C>A	ENST00000313608.8	-	5	543	c.498G>T	c.(496-498)gaG>gaT	p.E166D		NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	166					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					CTTTCTGAGTCTCGTTTTCTT	0.488													5	74	---	---	---	---
TCF3	6929	broad.mit.edu	37	19	1615477	1615477	+	Silent	SNP	C	C	T	rs1052738		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:1615477C>T	ENST00000262965.5	-	18	1973	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	TCF3_ENST00000395423.3_Silent_p.K547K|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	543					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCTCGGCCTTCTGCTCTG	0.687			T	"""PBX1, HLF, TFPT"""	pre B-ALL								28	73	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30936378	30936378	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:30936378G>A	ENST00000355537.3	+	2	2056	c.1909G>A	c.(1909-1911)Ggc>Agc	p.G637S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G637S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCGACTGCGGCCGGGTGTT	0.622													4	173	---	---	---	---
CATSPERG	57828	broad.mit.edu	37	19	38858384	38858384	+	Silent	SNP	C	C	T	rs2302184		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:38858384C>T	ENST00000409235.3	+	25	3013	c.2898C>T	c.(2896-2898)gaC>gaT	p.D966D	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.D926D	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	966					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACAGTGAGGACGAAATCTACC	0.597													27	388	---	---	---	---
CNTD2	79935	broad.mit.edu	37	19	40730407	40730407	+	Silent	SNP	G	G	A			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:40730407G>A	ENST00000430325.2	-	3	549	c.501C>T	c.(499-501)tgC>tgT	p.C167C	CNTD2_ENST00000513948.1_Silent_p.C61C|CNTD2_ENST00000433940.1_Silent_p.C137C	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	167					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						CGGGAAGCACGCACTCTTCCA	0.592													9	486	---	---	---	---
EXO5	64789	broad.mit.edu	37	1	40980662	40980663	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:40980662_40980663delAC	ENST00000372703.1	+	2	1520_1521	c.446_447delAC	c.(445-447)aacfs	p.N149fs	EXO5_ENST00000296380.4_Frame_Shift_Del_p.N149fs|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Frame_Shift_Del_p.N149fs					exonuclease 5																		AAGTTTCTGAACATACTTTTGC	0.460													7	102	---	---	---	---
ATP2A2	488	broad.mit.edu	37	12	110777198	110777199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:110777198_110777199insG	ENST00000395494.2	+	11	2014_2015	c.1451_1452insG	c.(1450-1455)atgtttfs	p.F485fs	ATP2A2_ENST00000539276.2_Frame_Shift_Ins_p.F512fs|ATP2A2_ENST00000308664.6_Frame_Shift_Ins_p.F512fs			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	512					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGAGCAAGATGTTTGTGAAGG	0.381													18	60	---	---	---	---
