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
CSAG4	100130935	broad.mit.edu	37	X	151896273	151896273	+	RNA	SNP	C	C	T	rs2471768	by1000genomes	TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chrX:151896273C>T	ENST00000361201.4	-	0	457					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						TTTGAAGCGGCGGTCTTTTAG	0.502000													4	42					0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120736	47120736	+	Silent	SNP	G	G	C			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr14:47120736G>C	ENST00000298283.3	-	1	292	c.204C>G	c.(202-204)gcC>gcG	p.A68A		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	68					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CACAAATACGGGCGGCCTCCA	0.512000													18	80					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236918388	236918388	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr1:236918388G>A	ENST00000366578.4	+	17	2210	c.2044G>A	c.(2044-2046)Gag>Aag	p.E682K	ACTN2_ENST00000546208.1_Missense_Mutation_p.E176K|ACTN2_ENST00000542672.1_Missense_Mutation_p.E682K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	682					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAAGCAGTATGAGCACAACAT	0.527000													31	175					0	0	1	0	0
CACTIN	58509	broad.mit.edu	37	19	3612010	3612010	+	Missense_Mutation	SNP	A	A	T			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr19:3612010A>T	ENST00000429344.2	-	10	2240	c.2188T>A	c.(2188-2190)Tac>Aac	p.Y730N	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.Y662N|CACTIN_ENST00000248420.5_Missense_Mutation_p.Y730N	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		CGGTGCGAGTATTCCCACTCG	0.632000													15	70					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128442	147128442	+	Silent	SNP	G	G	T			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr3:147128442G>T	ENST00000282928.4	+	1	1272	c.543G>T	c.(541-543)gtG>gtT	p.V181V		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	181					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACGGCCAGGTGACCAGCCCGC	0.687000													6	35					2.7689e-08	3.21192e-08	1	1	0
SRCIN1	80725	broad.mit.edu	37	17	36714610	36714610	+	Missense_Mutation	SNP	A	A	C			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr17:36714610A>C	ENST00000264659.7	-	11	2278	c.2054T>G	c.(2053-2055)cTg>cGg	p.L685R	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.L719R	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	557					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GCGCTTCAGCAGCGCGCGCAC	0.726000											OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	17					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201751835	201751835	+	Missense_Mutation	SNP	A	A	G			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr1:201751835A>G	ENST00000367296.4	+	6	2615	c.2195A>G	c.(2194-2196)aAt>aGt	p.N732S	NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367300.3_Missense_Mutation_p.N732S|NAV1_ENST00000367297.4_Missense_Mutation_p.N732S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.N745S|NAV1_ENST00000367295.1_Missense_Mutation_p.N341S|NAV1_ENST00000295624.6_Missense_Mutation_p.N732S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	732					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCCCCTGTCAATCAGACAGAT	0.572000													16	59					0	0	1	0	0
C12orf42	374470	broad.mit.edu	37	12	103695974	103695974	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr12:103695974G>A	ENST00000548048.1	-	9	1290	c.794C>T	c.(793-795)tCc>tTc	p.S265F	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.S332F|C12orf42_ENST00000378113.2_Missense_Mutation_p.S332F			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	332										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GGGTGCTGAGGAGCAAACCTT	0.602000													14	55					0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102584658	102584658	+	Splice_Site	SNP	C	C	A	rs149961330		TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr7:102584658C>A	ENST00000339431.4	+	4	1225	c.928_splice	c.e4-1	p.A310_splice	FBXL13_ENST00000379305.3_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000436908.1_Intron|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379306.3_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	310					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGTTTCCAGCCGCTTTTTTAG	0.313000													9	87					3.09899e-07	3.52434e-07	1	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	53					0	0	1	0	0
TCL1B	9623	broad.mit.edu	37	14	96157084	96157084	+	Missense_Mutation	SNP	C	C	A			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr14:96157084C>A	ENST00000340722.7	+	2	225	c.174C>A	c.(172-174)agC>agA	p.S58R	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	58										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		ATGAACCCAGCATCACAGTGC	0.602000													24	116					1.85244e-09	2.19269e-09	1	1	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								7	44					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C	rs76635225		TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956																				breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488000													3	26					0	0	1	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													3	17					0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	813764	813764	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr7:813764G>A	ENST00000297440.6	+	10	2031	c.2011G>A	c.(2011-2013)Gcg>Acg	p.A671T	HEATR2_ENST00000403952.3_Missense_Mutation_p.A96T|HEATR2_ENST00000313147.5_Missense_Mutation_p.A671T	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	671							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GAGGACAGCCGCGGCCATCCG	0.677000													15	82					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32911425	32911425	+	Missense_Mutation	SNP	A	A	G	rs80359364		TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr13:32911425A>G	ENST00000544455.1	+	11	3160	c.2933A>G	c.(2932-2934)aAt>aGt	p.N978S	BRCA2_ENST00000380152.3_Missense_Mutation_p.N978S	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	978	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATCTCCTTGAATATAGATAAA	0.328000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			21	57					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31023948	31023948	+	Missense_Mutation	SNP	G	G	T			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr20:31023948G>T	ENST00000375687.4	+	13	3857	c.3433G>T	c.(3433-3435)Ggc>Tgc	p.G1145C	ASXL1_ENST00000306058.5_Missense_Mutation_p.G1140C	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1145					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCAGAGCCATGGCTCGCTACG	0.512000			"""F, N, Mis"""		"""MDS, CMML"""								14	57					4.3838e-07	4.88962e-07	1	1	0
COL25A1	84570	broad.mit.edu	37	4	109858996	109858996	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr4:109858996C>A	ENST00000399132.1	-	11	1206	c.676G>T	c.(676-678)Gaa>Taa	p.E226*	COL25A1_ENST00000399127.1_Nonsense_Mutation_p.E222*|COL25A1_ENST00000399126.1_Nonsense_Mutation_p.E226*	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	226	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TTTCCTGGTTCACCCTTAAAA	0.343000													11	73					1.49906e-05	1.58083e-05	1	1	0
TXNRD1	7296	broad.mit.edu	37	12	104732926	104732926	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr12:104732926G>A	ENST00000526691.1	+	14	1918	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	TXNRD1_ENST00000397736.2_Missense_Mutation_p.V480M|TXNRD1_ENST00000525566.1_Missense_Mutation_p.V586M|TXNRD1_ENST00000540716.1_Missense_Mutation_p.V398M|TXNRD1_ENST00000529546.1_Missense_Mutation_p.V398M|TXNRD1_ENST00000526390.1_Missense_Mutation_p.V480M|TXNRD1_ENST00000526950.1_Missense_Mutation_p.V505M|TXNRD1_ENST00000427956.1_Missense_Mutation_p.V551M|TXNRD1_ENST00000378070.4_Missense_Mutation_p.V535M|TXNRD1_ENST00000542918.1_Missense_Mutation_p.V486M|TXNRD1_ENST00000503506.2_Missense_Mutation_p.V436M|TXNRD1_ENST00000354940.6_Missense_Mutation_p.V436M|TXNRD1_ENST00000388854.3_Missense_Mutation_p.V488M|TXNRD1_ENST00000524698.1_Missense_Mutation_p.V436M|TXNRD1_ENST00000429002.2_Missense_Mutation_p.V586M	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	586					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GGAACGTGTTGTGGGCTTTCA	0.443000													3	29					0	0	1	0	0
LPCAT2	54947	broad.mit.edu	37	16	55562497	55562497	+	Silent	SNP	C	C	T			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr16:55562497C>T	ENST00000262134.5	+	3	704	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	174					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						ACAAGTCCCTCTGATTGGCAG	0.343000													15	110					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060211	16060211	+	Missense_Mutation	SNP	C	C	T	rs140667599		TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr19:16060211C>T	ENST00000322107.1	+	1	394	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	132					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						CCACCCACTGCGTTACAATGT	0.532000													48	192					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	35					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	12					5.9392e-07	6.37914e-07	1	1	0
MRPS35	60488	broad.mit.edu	37	12	27876980	27876980	+	Splice_Site	SNP	A	A	G			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr12:27876980A>G	ENST00000081029.3	+	5	454	c.382_splice	c.e5-1	p.D128_splice	MRPS35_ENST00000538315.1_Splice_Site_p.D128_splice	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	128					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					TTATTCTCAGATTTTTGCACT	0.368000													11	31					0	0	1	0	0
MC4R	4160	broad.mit.edu	37	18	58039542	58039542	+	Missense_Mutation	SNP	T	T	G			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr18:58039542T>G	ENST00000299766.3	-	1	459	c.41A>C	c.(40-42)cAc>cCc	p.H14P		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	14					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GTTCCAGAGGTGCAGAGAAGT	0.537000													11	58					0	0	1	0	0
PDXK	8566	broad.mit.edu	37	21	45161605	45161605	+	Missense_Mutation	SNP	A	A	C			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr21:45161605A>C	ENST00000291565.4	+	3	383	c.200A>C	c.(199-201)gAa>gCa	p.E67A	PDXK_ENST00000467908.1_Missense_Mutation_p.E27A|PDXK_ENST00000468090.1_Missense_Mutation_p.E67A	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	67					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GAGTTGTACGAAGGCCTGAGG	0.582000													7	33					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208932	140208932	+	Missense_Mutation	SNP	C	C	T			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr5:140208932C>T	ENST00000529310.1	+	1	1370	c.1256C>T	c.(1255-1257)tCg>tTg	p.S419L	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.S419L|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGCGTGTCGGCCTATGAG	0.607000													51	174					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18451373	18451373	+	Missense_Mutation	SNP	C	C	T			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr11:18451373C>T	ENST00000541669.1	+	4	445	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	LDHC_ENST00000546146.1_Intron|LDHC_ENST00000280704.4_Missense_Mutation_p.R112C|LDHC_ENST00000544105.1_Missense_Mutation_p.R112C|LDHC_ENST00000537486.1_Missense_Mutation_p.R112C|LDHC_ENST00000536880.1_Missense_Mutation_p.R98C|LDHC_ENST00000535809.1_Missense_Mutation_p.R112C			P07864	LDHC_HUMAN	lactate dehydrogenase C	112					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	CCTGGTCCAACGTAATGTGGC	0.413000													23	92					0	0	1	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442331	89442331	+	RNA	SNP	G	G	A			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr2:89442331G>A	ENST00000492167.1	-	0	125																											TGGAGACTGCGTCAACACAAT	0.493000													14	77					0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60705416	60705416	+	Missense_Mutation	SNP	C	C	T			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr11:60705416C>T	ENST00000227880.3	-	7	1750	c.1517G>A	c.(1516-1518)gGc>gAc	p.G506D		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	506					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CAACAGTGAGCCCACCCCCGA	0.652000													3	28					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395145	115395145	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr3:115395145G>T	ENST00000393780.3	+	3	892	c.424G>T	c.(424-426)Gaa>Taa	p.E142*	GAP43_ENST00000305124.6_Nonsense_Mutation_p.E106*	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	106					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CAAAGCAGGAGAAACTCCTTC	0.632000													8	55					0.000157383	0.000163004	1	1	0
BBS7	55212	broad.mit.edu	37	4	122789155	122789155	+	Missense_Mutation	SNP	C	C	T			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr4:122789155C>T	ENST00000264499.4	-	2	266	c.83G>A	c.(82-84)aGa>aAa	p.R28K	BBS7_ENST00000506636.1_Missense_Mutation_p.R28K	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	28					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGCTCTGTGTCTTGAGGCAGG	0.378000									Bardet-Biedl syndrome				16	85					0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72785005	72785005	+	Missense_Mutation	SNP	T	T	G			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr17:72785005T>G	ENST00000335464.5	+	4	407	c.245T>G	c.(244-246)cTc>cGc	p.L82R	TMEM104_ENST00000582330.1_Missense_Mutation_p.L82R|TMEM104_ENST00000417024.2_Missense_Mutation_p.L95R|TMEM104_ENST00000582773.1_Missense_Mutation_p.L82R	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	82						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ATGGAGAACCTCAAGGTGTGT	0.612000													3	27					0	0	1	0	0
RGS18	64407	broad.mit.edu	37	1	192129548	192129548	+	Missense_Mutation	SNP	G	G	C			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr1:192129548G>C	ENST00000367460.3	+	3	443	c.262G>C	c.(262-264)Gac>Cac	p.D88H	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	88	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAATCATTTGACAAACTGCT	0.363000													17	39					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257502	9257502	+	Missense_Mutation	SNP	G	G	A			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr18:9257502G>A	ENST00000383440.2	+	8	4425	c.4168G>A	c.(4168-4170)Gtg>Atg	p.V1390M	ANKRD12_ENST00000400020.3_Missense_Mutation_p.V1390M|ANKRD12_ENST00000262126.3_Missense_Mutation_p.V1413M	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1413						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TCAGGTTGGTGTGATCCAGAA	0.413000													27	137					0	0	1	0	0
RIPK1	8737	broad.mit.edu	37	6	3111056	3111056	+	Silent	SNP	C	C	T			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr6:3111056C>T	ENST00000259808.4	+	10	1894	c.1596C>T	c.(1594-1596)acC>acT	p.T532T	RIPK1_ENST00000541791.1_Silent_p.T486T|RIPK1_ENST00000380409.2_Silent_p.T532T			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	532	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TAAAATATACCATATACAATA	0.368000													15	61					0	0	1	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390506	52390506	+	RNA	SNP	A	A	T	rs11006369	by1000genomes	TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr10:52390506A>T	ENST00000443374.1	+	0	1199																											CCTTAATAACATCACTCAATT	0.438000													4	50					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111197863	111197866	+	RNA	DEL	CACA	CACA	-	rs71968470		TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr3:111197863_111197866delCACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacaca	0.539													2	4	---	---	---	---					
OR1L4	254973	broad.mit.edu	37	9	125486799	125486800	+	In_Frame_Ins	INS	-	-	TTT			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr9:125486799_125486800insTTT	ENST00000259466.1	+	1	531_532	c.531_532insTTT	c.(529-534)catttt>caTTTtttt	p.179_180insF		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TCATTAAGCACTTTTTCTGTGA	0.505													17	268	---	---	---	---					
OR1L6	392390	broad.mit.edu	37	9	125512657	125512658	+	In_Frame_Ins	INS	-	-	TTT			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr9:125512657_125512658insTTT	ENST00000373684.1	+	1	639_640	c.639_640insTTT	c.(637-642)catttt>caTTTtttt	p.215_216insF	OR1L6_ENST00000304720.2_In_Frame_Ins_p.179_180insF			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TCATTAAGCACTTTTTCTGTGA	0.505													21	110	---	---	---	---					
ZCRB1	85437	broad.mit.edu	37	12	42711192	42711193	+	Frame_Shift_Ins	INS	-	-	CTTAGCTG			TCGA-50-8460-01A-11D-2323-08	TCGA-50-8460-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6618ee8-ed58-472a-accf-6f1dd8365897	61766321-c998-4b01-8244-37a248df0944	g.chr12:42711192_42711193insCTTAGCTG	ENST00000266529.3	-	5	465_466	c.282_283insCAGCTAAG	c.(280-285)gatcatfs	p.H95fs	ZCRB1_ENST00000552673.1_Frame_Shift_Ins_p.H54fs|PPHLN1_ENST00000549190.1_Intron	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	95					mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		CTTCGGATGAACTCAGCTGCTC	0.322													9	52	---	---	---	---					
