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
CCDC157	550631	broad.mit.edu	37	22	30762123	30762123	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr22:30762123G>A	ENST00000405659.1	+	3	843	c.134G>A	c.(133-135)cGc>cAc	p.R45H	CCDC157_ENST00000399824.2_Missense_Mutation_p.R45H|CCDC157_ENST00000338306.3_Missense_Mutation_p.R45H			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	45										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TTCCCTGACCGCATGGCCTGT	0.652000													4	147					0	0	1	0	0
WLS	79971	broad.mit.edu	37	1	68614298	68614298	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr1:68614298C>T	ENST00000262348.4	-	7	1271	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	WLS_ENST00000540432.1_Missense_Mutation_p.G340R|WLS_ENST00000354777.2_Missense_Mutation_p.G338R|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000491811.1_5'UTR|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.G249R	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	340					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GCAATGGGTCCGACTTGCTTC	0.512000													4	19					0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42169758	42169758	+	Missense_Mutation	SNP	C	C	A	rs140895306		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr17:42169758C>A	ENST00000225983.6	-	8	1236	c.913G>T	c.(913-915)Ggg>Tgg	p.G305W	HDAC5_ENST00000586802.1_Missense_Mutation_p.G304W|HDAC5_ENST00000393622.2_Missense_Mutation_p.G304W|HDAC5_ENST00000336057.5_Missense_Mutation_p.G304W			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	304					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCCCCAGGCCCGGCACCTGTG	0.582000													4	58					0.150653	0.150653	1	1	0
FOXA1	3169	broad.mit.edu	37	14	38061208	38061208	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr14:38061208G>A	ENST00000250448.2	-	2	842	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	FOXA1_ENST00000540786.1_Missense_Mutation_p.R228C|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	261					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TTCTGGCGGCGCAAGTAGCAG	0.716000													7	10					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120567473	120567473	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr2:120567473T>A	ENST00000263708.2	+	2	815	c.44T>A	c.(43-45)gTa>gAa	p.V15E		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	15						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ACCTACAATGTACGAGCATCA	0.403000													3	51					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71952952	71952952	+	Missense_Mutation	SNP	G	G	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr15:71952952G>T	ENST00000355327.3	+	8	1370	c.1236G>T	c.(1234-1236)caG>caT	p.Q412H	THSD4_ENST00000357769.4_Missense_Mutation_p.Q52H|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.Q412H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	412						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGGGCTGTCAGGTTGTGTCGG	0.542000													46	104					2.24722e-20	2.52127e-20	1	1	0
BPTF	2186	broad.mit.edu	37	17	65907564	65907564	+	Silent	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr17:65907564C>T	ENST00000321892.4	+	13	4003	c.3942C>T	c.(3940-3942)gaC>gaT	p.D1314D	BPTF_ENST00000424123.3_Silent_p.D1175D|BPTF_ENST00000335221.5_Silent_p.D1314D|BPTF_ENST00000306378.6_Silent_p.D1188D			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1314					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTGAAAATGACATAGAAGAAA	0.378000													13	10					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87726074	87726074	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr6:87726074C>T	ENST00000305344.5	+	2	1725	c.1022C>T	c.(1021-1023)cCt>cTt	p.P341L		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled						G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CTGATCAACCCTCTGCTCTAT	0.433000													50	73					0	0	1	0	0
OR2W5	0	broad.mit.edu	37	1	247654714	247654714	+	RNA	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr1:247654714C>T	ENST00000522351.1	+	0	345							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H95H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCACCTACCACGGCTGTGTGG	0.557000													5	68					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38311178	38311178	+	Silent	SNP	T	T	C			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr21:38311178T>C	ENST00000399120.1	-	4	1236	c.6A>G	c.(4-6)gaA>gaG	p.E2E	HLCS_ENST00000336648.4_Silent_p.E2E	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	2					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GGAGTCTATCTTCCATGAACG	0.458000													32	48					0	0	1	0	0
NCF4	4689	broad.mit.edu	37	22	37263465	37263465	+	Silent	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr22:37263465C>T	ENST00000397147.4	+	4	487	c.303C>T	c.(301-303)atC>atT	p.I101I	CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000248899.6_Silent_p.I101I|CTA-833B7.2_ENST00000431290.1_RNA	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	101	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AACAGGAGATCGCCGAGATGC	0.607000													14	32					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50788105	50788105	+	Missense_Mutation	SNP	G	G	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr15:50788105G>T	ENST00000433963.1	+	18	3219	c.2719G>T	c.(2719-2721)Gca>Tca	p.A907S	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.A801S|USP8_ENST00000396444.3_Missense_Mutation_p.A907S|USP8_ENST00000307179.4_Missense_Mutation_p.A907S			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	907					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTTTAAAGCTGCAGAACATGC	0.353000													17	19					1.02788e-11	1.12578e-11	1	1	0
ZRSR1	7310	broad.mit.edu	37	5	112228018	112228018	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr5:112228018G>A	ENST00000391338.1	+	1	706	c.682G>A	c.(682-684)Gca>Aca	p.A228T	REEP5_ENST00000504247.1_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000545426.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000474542.2_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1											breast(1)|skin(1)|stomach(2)	4						TGACCCTGACGCAAGCCTGGA	0.448000													7	67					0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48333127	48333127	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr18:48333127G>A	ENST00000428869.2	-	5	451	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	MRO_ENST00000431965.2_Missense_Mutation_p.R79C|MRO_ENST00000256425.2_Missense_Mutation_p.R65C|MRO_ENST00000588444.1_Missense_Mutation_p.R65C|MRO_ENST00000587291.1_Intron|MRO_ENST00000436348.2_Missense_Mutation_p.R79C|MRO_ENST00000398439.3_Missense_Mutation_p.R65C			Q9BYG7	MSTRO_HUMAN	maestro	65						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GCCATGTGACGCTTTTTAGCA	0.542000													12	121					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212779	26212779	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chrX:26212779T>A	ENST00000379034.1	+	2	965	c.816T>A	c.(814-816)agT>agA	p.S272R		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	272	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCCTCCCCAGTGAAGGAATTC	0.532000													51	11					0	0	1	0	0
PRPF19	27339	broad.mit.edu	37	11	60658695	60658695	+	Silent	SNP	G	G	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr11:60658695G>A	ENST00000227524.4	-	16	1663	c.1458C>T	c.(1456-1458)caC>caT	p.H486H		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	486					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	p.H486H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGAACTTGGCGTGATGCCCGA	0.542000													13	20					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98222052	98222052	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr9:98222052C>T	ENST00000430669.2	-	17	3104	c.2519G>A	c.(2518-2520)cGt>cAt	p.R840H	PTCH1_ENST00000375274.2_Missense_Mutation_p.R905H|PTCH1_ENST00000429896.2_Missense_Mutation_p.R755H|PTCH1_ENST00000331920.6_Missense_Mutation_p.R906H|PTCH1_ENST00000418258.1_Missense_Mutation_p.R755H|PTCH1_ENST00000437951.1_Missense_Mutation_p.R840H|PTCH1_ENST00000421141.1_Missense_Mutation_p.R755H			Q13635	PTC1_HUMAN	patched 1	906					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ATCCACCAGACGCTGTTTAGT	0.537000													4	31					0	0	1	0	0
PRICKLE1	0	broad.mit.edu	37	12	42860182	42860182	+	Splice_Site	SNP	T	T	C			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr12:42860182T>C	ENST00000455697.1	-	6	874	c.589A>G	c.(589-591)Ata>Gta	p.I197V	PRICKLE1_ENST00000552240.1_Splice_Site_p.I197V|PRICKLE1_ENST00000345127.3_Splice_Site_p.I197V|PRICKLE1_ENST00000548696.1_Splice_Site_p.I197V|PRICKLE1_ENST00000445766.2_Splice_Site_p.I197V	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	197	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCAAAAATTATCTTCAAAAAG	0.433000													19	21					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62813870	62813870	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr4:62813870G>A	ENST00000512091.2	+	16	3224	c.2477G>A	c.(2476-2478)cGt>cAt	p.R826H	LPHN3_ENST00000514996.1_Missense_Mutation_p.R826H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894H|LPHN3_ENST00000514591.1_Missense_Mutation_p.R826H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894H			Q9HAR2	LPHN3_HUMAN	latrophilin 3		GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R826H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACTCCAAGCGTACAATGACA	0.383000													11	13					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18923109	18923109	+	Silent	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr17:18923109C>T	ENST00000317977.6	+	13	1975	c.1404C>T	c.(1402-1404)tgC>tgT	p.C468C	SLC5A10_ENST00000395647.2_Silent_p.C514C|SLC5A10_ENST00000417251.2_Silent_p.C462C|SLC5A10_ENST00000395642.1_Silent_p.C468C|SLC5A10_ENST00000395645.3_Silent_p.C498C|SLC5A10_ENST00000395643.2_Silent_p.C471C	NM_001282417.1	NP_001269346.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	498					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CCCCACCGTGCGGAGAGCCAG	0.667000													9	7					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	73					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6504676	6504676	+	Silent	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr9:6504676C>T	ENST00000276893.5	+	15	2415	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	749					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CTGAGTGCTTCCACAATGTCT	0.383000													9	11					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27688043	27688043	+	Missense_Mutation	SNP	A	A	G			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr10:27688043A>G	ENST00000438700.3	-	4	1601	c.1484T>C	c.(1483-1485)aTc>aCc	p.I495T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	495	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GATGTTAGTGATGGTGGTGAT	0.403000													30	42					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103468003	103468003	+	Missense_Mutation	SNP	T	T	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr1:103468003T>A	ENST00000358392.2	-	23	2431	c.2114A>T	c.(2113-2115)cAa>cTa	p.Q705L	COL11A1_ENST00000512756.1_Missense_Mutation_p.Q577L|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q654L|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q693L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	693	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGATTCCCTTGTTGACCTGG	0.433000													7	11					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			22	41					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131521766	131521766	+	Silent	SNP	G	G	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr2:131521766G>A	ENST00000423981.1	+	2	2231	c.2121G>A	c.(2119-2121)ggG>ggA	p.G707G	AMER3_ENST00000321420.4_Silent_p.G707G	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GGCTCTTTGGGCAGCGCTGGG	0.642000													5	26					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43913222	43913222	+	Nonsense_Mutation	SNP	T	T	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr1:43913222T>A	ENST00000562955.1	+	66	9122	c.9122T>A	c.(9121-9123)tTg>tAg	p.L3041*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.L2199*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3098						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCAGGGACATTGGAGCTCCCC	0.552000													29	47					0	0	1	0	0
CELF1	10658	broad.mit.edu	37	11	47493882	47493882	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr11:47493882G>A	ENST00000395290.2	-	12	1367	c.1358C>T	c.(1357-1359)tCg>tTg	p.S453L	CELF1_ENST00000358597.3_Missense_Mutation_p.S454L|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000532048.1_Missense_Mutation_p.S480L|CELF1_ENST00000310513.5_Missense_Mutation_p.S450L|CELF1_ENST00000531165.1_Missense_Mutation_p.S482L|CELF1_ENST00000395292.2_Missense_Mutation_p.S451L|CELF1_ENST00000361904.3_Missense_Mutation_p.S451L	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	454	RRM 3.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						AGCTTGGGCCGAAACAGGATT	0.483000													4	145					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17855689	17855689	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr6:17855689C>T	ENST00000378814.5	-	6	472	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	KIF13A_ENST00000378843.2_Missense_Mutation_p.R158Q|KIF13A_ENST00000259711.6_Missense_Mutation_p.R158Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R158Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.R158Q	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	158	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TAAAAGATCCCGAACTTTCTC	0.338000													3	59					0	0	1	0	0
ATOH1	474	broad.mit.edu	37	4	94750559	94750559	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr4:94750559G>A	ENST00000306011.3	+	1	518	c.482G>A	c.(481-483)cGg>cAg	p.R161Q		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	161					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		AAGCAGAGACGGCTAGCAGCC	0.617000													29	26					0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46726592	46726592	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr11:46726592C>T	ENST00000311764.2	+	5	1572	c.1342C>T	c.(1342-1344)Cgc>Tgc	p.R448C		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGCCTTTGCCCGCCGGCCCTC	0.672000													9	80					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38182576	38182576	+	Silent	SNP	A	A	C			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr17:38182576A>C	ENST00000394126.1	-	18	2311	c.1893T>G	c.(1891-1893)acT>acG	p.T631T	MED24_ENST00000501516.3_Silent_p.T625T|MED24_ENST00000394128.2_Silent_p.T606T|MED24_ENST00000394127.2_Silent_p.T593T|MED24_ENST00000356271.3_Silent_p.T593T			O75448	MED24_HUMAN	mediator complex subunit 24	606					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGATGTTATCAGTGATTTTCT	0.557000													39	63					0	0	1	0	0
EFCC1	79825	broad.mit.edu	37	3	128758620	128758620	+	Silent	SNP	T	T	C			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr3:128758620T>C	ENST00000436022.2	+	8	1726	c.415T>C	c.(415-417)Ttg>Ctg	p.L139L	EFCC1_ENST00000480450.1_Silent_p.L576L	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1																		CTGCCAGCTGTTGCGGAGACA	0.667000													6	85					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73828485	73828485	+	Silent	SNP	C	C	T			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr2:73828485C>T	ENST00000264448.6	+	19	12144	c.12033C>T	c.(12031-12033)gaC>gaT	p.D4011D	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Silent_p.D3969D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4011					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGCACCTGGACGGTCGGGGCT	0.592000													34	52					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776169	38776169	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr4:38776169G>A	ENST00000308973.4	-	4	1648	c.1043C>T	c.(1042-1044)aCg>aTg	p.T348M	TLR10_ENST00000361424.2_Missense_Mutation_p.T348M|TLR10_ENST00000508334.1_Missense_Mutation_p.T348M|TLR10_ENST00000506111.1_Missense_Mutation_p.T348M	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	348					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTGGAATTTCGTAGGATAATT	0.333000													38	46					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5352528	5352530	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr7:5352528_5352530delGAG	ENST00000399537.4	-	27	8340_8342	c.7992_7994delCTC	c.(7990-7995)tcctct>tct	p.2664_2665SS>S	TNRC18_ENST00000430969.1_In_Frame_Del_p.2664_2665SS>S			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2664	Ser-rich.						DNA binding	p.S2671delS(2)|p.P1177delP(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggaagaggaggaggagg	0.640													2	4	---	---	---	---					
RP11-556N21.1	0	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													2	4	---	---	---	---					
