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
TNRC6A	27327	broad.mit.edu	37	16	24826599	24826599	+	Missense_Mutation	SNP	G	G	A	rs148426730		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:24826599G>A	ENST00000395799.3	+	19	4933	c.4804G>A	c.(4804-4806)Ggc>Agc	p.G1602S	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_Missense_Mutation_p.G80S|TNRC6A_ENST00000315183.7_Missense_Mutation_p.G1553S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1602					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATCGCCTAACGGCTCTAGCAG	0.433000													67	2					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160122998	160122998	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:160122998C>T	ENST00000368081.4	+	2	662	c.191C>T	c.(190-192)tCc>tTc	p.S64F		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	64					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCAAGTACTCCGTGGACctg	0.532000													43	10					0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113676170	113676170	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:113676170G>A	ENST00000263326.3	+	5	483	c.441G>A	c.(439-441)aaG>aaA	p.K147K	IL37_ENST00000349806.3_Silent_p.K86K|IL37_ENST00000353225.3_Silent_p.K107K|IL37_ENST00000352179.3_Silent_p.K126K|IL37_ENST00000311328.2_Silent_p.K121K	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	147					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						CTGCCCAAAAGGAATCAGCAC	0.527000													46	4					0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6750995	6750995	+	Silent	SNP	G	G	A	rs79417223		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr20:6750995G>A	ENST00000378827.4	+	2	1441	c.222G>A	c.(220-222)gtG>gtA	p.V74V		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	74					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GGGACGCCGTGGTGCCCCCCT	0.657000													49	33					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404411	20404411	+	Missense_Mutation	SNP	G	G	A	rs149331048		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:20404411G>A	ENST00000285600.4	+	1	645	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATATGAAATGGAAATTATGAC	0.448000													23	74					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3030140	3030140	+	Silent	SNP	A	A	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:3030140A>T	ENST00000397461.1	+	13	1854	c.1470A>T	c.(1468-1470)ggA>ggT	p.G490G	CNTN4_ENST00000448906.2_Silent_p.G162G|CNTN4_ENST00000358480.3_Silent_p.G271G|CNTN4_ENST00000418658.1_Silent_p.G490G|CNTN4_ENST00000397459.2_Silent_p.G162G|CNTN4_ENST00000427331.1_Silent_p.G490G|CNTN4_ENST00000475817.1_3'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	490	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCAGTACTGGAAACTTGGTAG	0.388000													26	38					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108754262	108754262	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:108754262C>T	ENST00000232603.5	-	15	1466	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	MORC1_ENST00000483760.1_Missense_Mutation_p.D462N	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	462			D -> E (in dbSNP:rs3762696).		cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCTCCACATCGATGTCATTC	0.289000													17	20					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114508861	114508861	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:114508861C>T	ENST00000369558.1	+	11	2580	c.2348C>T	c.(2347-2349)gCc>gTc	p.A783V	HIPK1_ENST00000406344.1_Missense_Mutation_p.A389V|HIPK1_ENST00000340480.4_Missense_Mutation_p.A409V|HIPK1_ENST00000369553.1_Missense_Mutation_p.A389V|HIPK1_ENST00000369554.2_Missense_Mutation_p.A738V|HIPK1_ENST00000369555.2_Missense_Mutation_p.A738V|HIPK1_ENST00000369559.4_Missense_Mutation_p.A783V|HIPK1_ENST00000369561.4_Missense_Mutation_p.A749V|HIPK1_ENST00000426820.2_Missense_Mutation_p.A783V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTCCAGAGGCCATGGGGAGT	0.547000													4	54					0	0	1	0	0
FOPNL	123811	broad.mit.edu	37	16	15978036	15978036	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:15978036C>T	ENST00000255759.6	-	2	84	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000575073.1_Missense_Mutation_p.G19R|FOPNL_ENST00000573968.1_Missense_Mutation_p.G19R|FOPNL_ENST00000573396.1_Missense_Mutation_p.G19R|FOPNL_ENST00000573429.1_Missense_Mutation_p.G19R	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	19	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding			breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						CCTAATACCCCCTTTTTTTCC	0.373000													14	3					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207791445	207791445	+	Missense_Mutation	SNP	G	G	C			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:207791445G>C	ENST00000367049.4	+	42	6919	c.6919G>C	c.(6919-6921)Ggg>Cgg	p.G2307R	CR1_ENST00000400960.2_Missense_Mutation_p.G1857R|CR1_ENST00000367051.1_Missense_Mutation_p.G1857R|CR1_ENST00000367052.1_Missense_Mutation_p.G1857R|CR1_ENST00000367053.1_Missense_Mutation_p.G1857R	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1857					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATCCAAAACGGGCATTACAT	0.433000													85	15					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746569	95746569	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:95746569G>A	ENST00000311106.3	-	8	1241	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F	PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.S288F	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	335	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCTTGCTGGGAGGCACTGCT	0.557000													126	19					0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144507863	144507863	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr6:144507863C>T	ENST00000367568.4	+	2	282	c.99C>T	c.(97-99)atC>atT	p.I33I		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	33					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		ACGAGGACATCGTGTTCGAGA	0.557000									Familial Hemophagocytic Lymphohistiocytosis				19	5					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357408	38357408	+	Missense_Mutation	SNP	C	C	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:38357408C>A	ENST00000379705.3	-	2	920	c.63G>T	c.(61-63)agG>agT	p.R21S	TRPC4_ENST00000358477.2_Missense_Mutation_p.R21S|TRPC4_ENST00000379679.1_Missense_Mutation_p.R21S|TRPC4_ENST00000338947.5_Missense_Mutation_p.R21S|TRPC4_ENST00000379681.3_Missense_Mutation_p.R21S|TRPC4_ENST00000355779.2_Missense_Mutation_p.R21S|TRPC4_ENST00000379673.2_Missense_Mutation_p.R21S|TRPC4_ENST00000447043.1_Missense_Mutation_p.R21S|TRPC4_ENST00000426868.2_Missense_Mutation_p.R21S			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	21					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTCTTACTATCCTTAGAGGGA	0.418000													53	140					4.17328e-34	4.31719e-34	1	1	0
C10orf71	118461	broad.mit.edu	37	10	50530807	50530807	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr10:50530807G>T	ENST00000374144.3	+	3	505	c.217G>T	c.(217-219)Ggc>Tgc	p.G73C	C10orf71_ENST00000323868.4_Missense_Mutation_p.G73C			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	73										endometrium(1)	1						GAGAACAGTGGGCCACACCCA	0.557000													30	15					2.46105e-21	2.51985e-21	1	1	0
AKNA	80709	broad.mit.edu	37	9	117119168	117119168	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr9:117119168G>T	ENST00000307564.4	-	13	2982	c.2821C>A	c.(2821-2823)Cca>Aca	p.P941T	AKNA_ENST00000374088.3_Missense_Mutation_p.P941T|AKNA_ENST00000223791.3_Missense_Mutation_p.P401T|AKNA_ENST00000374075.5_Missense_Mutation_p.P860T	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CGGTGCTCTGGAGTCTGGGTG	0.587000													131	11					4.17978e-45	4.33887e-45	1	1	0
NDST2	8509	broad.mit.edu	37	10	75562317	75562317	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr10:75562317C>T	ENST00000299641.4	-	16	3145	c.2175G>A	c.(2173-2175)acG>acA	p.T725T	NDST2_ENST00000309979.6_Silent_p.T848T	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	848	Heparan sulfate N-sulfotransferase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GGAAAAAATCCGTAAGGAAAA	0.522000													27	2					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298845	107298845	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr9:107298845G>A	ENST00000374781.2	-	1	292	c.250C>T	c.(250-252)Cat>Tat	p.H84Y		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GTGTGAAAATGAGAATCAAAG	0.403000													59	6					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132437080	132437080	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:132437080C>T	ENST00000370828.3	-	9	2010	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	GPC4_ENST00000535467.1_Missense_Mutation_p.E426K	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	496					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CCACTTCCTTCTCCACTACTT	0.418000													6	297					0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43212523	43212523	+	Splice_Site	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:43212523C>T	ENST00000397054.3	-	15	2187	c.2074_splice	c.e15-1	p.G692_splice	LEPRE1_ENST00000296388.5_Splice_Site_p.D686_splice|LEPRE1_ENST00000236040.4_3'UTR|LEPRE1_ENST00000462474.1_5'UTR	NM_001146289.1|NM_022356.3	NP_001139761.1|NP_071751.3	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	0					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCACCCTGTCCTGCAAGGAC	0.597000													4	37					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417693	25417693	+	RNA	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:25417693C>T	ENST00000549301.1	+	0	471				SNHG14_ENST00000553149.1_RNA																							GCTCAGCCCTCCCTGGCACTC	0.627000													42	32					0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77272799	77272799	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:77272799C>T	ENST00000251089.2	-	5	1452	c.1340G>A	c.(1339-1341)aGg>aAg	p.R447K		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	447										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CTCTCCATCCCTGATGAAGTT	0.547000													16	24					0	0	1	0	0
B4GALT7	11285	broad.mit.edu	37	5	177035919	177035919	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:177035919C>T	ENST00000029410.5	+	5	843	c.732C>T	c.(730-732)cgC>cgT	p.R244R		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	244					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTTTTCCGCCCCTCGGGAA	0.622000													56	4					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558840	113558840	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:113558840C>T	ENST00000284601.3	-	1	280	c.212G>A	c.(211-213)gGa>gAa	p.G71E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	71					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAGATTGAATCCAAAGGAATC	0.408000													70	82					0	0	1	0	0
PRH1	5554	broad.mit.edu	37	12	11034877	11034877	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:11034877C>T	ENST00000428168.2	-	4	495	c.458G>A	c.(457-459)gGg>gAg	p.G153E	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	153						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		TGGGCGGCCCCCTTGGGGAGG	0.587000													13	136					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226549185	226549185	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:226549185G>A	ENST00000366794.5	-	23	3164	c.3021C>T	c.(3019-3021)ttC>ttT	p.F1007F	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	1007	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCTTAAAATTGAATTTCAGTT	0.473000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					54	10					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17166820	17166820	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:17166820C>T	ENST00000180173.5	-	10	1151	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	MTMR7_ENST00000398099.3_Intron|MTMR7_ENST00000521857.1_Missense_Mutation_p.D373N	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	373	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GAAATCCAGTCCTTTTCAATT	0.308000													28	8					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108081263	108081263	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:108081263C>T	ENST00000357759.5	+	7	1492	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	HHLA2_ENST00000467761.1_Silent_p.L360L|HHLA2_ENST00000467562.1_Silent_p.L296L|HHLA2_ENST00000491820.1_Silent_p.L360L|HHLA2_ENST00000489514.2_Silent_p.L360L	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	360						integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GGCAGCTTTTCTGCTGATTTG	0.403000													6	11					0	0	1	0	0
UNKL	64718	broad.mit.edu	37	16	1448893	1448893	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:1448893G>A	ENST00000301712.5	-	6	843	c.784C>T	c.(784-786)Cca>Tca	p.P262S	UNKL_ENST00000508903.2_Intron|UNKL_ENST00000397462.1_Intron|UNKL_ENST00000389221.4_Intron	NM_001037125.2	NP_001032202.1	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	0						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GCGACCCTTGGGTTGTTGGCC	0.657000													5	0					0	0	1	0	0
C15orf53	400359	broad.mit.edu	37	15	38988833	38988833	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:38988833G>A	ENST00000318792.1	+	1	35	c.25G>A	c.(25-27)Gac>Aac	p.D9N		NM_207444.2	NP_997327.1	Q8NAA6	CO053_HUMAN	chromosome 15 open reading frame 53	9										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		GGCCCAAGAGGACCTGGGCAT	0.557000													34	47					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													4	58					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128628020	128628020	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:128628020C>T	ENST00000429175.2	+	2	293	c.29C>T	c.(28-30)tCg>tTg	p.S10L	FLI1_ENST00000527767.2_3'UTR|FLI1_ENST00000344954.6_5'UTR|FLI1_ENST00000525560.1_5'UTR|FLI1_ENST00000534087.1_5'UTR	NM_002017.3	NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	10					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S10*(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GAGGCTCTGTCGGTGGTGAGC	0.612000			T	EWSR1	Ewing sarcoma								5	2					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42004565	42004565	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:42004565C>T	ENST00000395925.3	-	15	4190	c.4106G>A	c.(4105-4107)gGc>gAc	p.G1369D	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1369					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCTGCCCATGCCGTGAGCCCC	0.642000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				80	62					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47836718	47836718	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr21:47836718C>T	ENST00000359568.5	+	30	6993	c.6886C>T	c.(6886-6888)Ccg>Tcg	p.P2296S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2296					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGAGTCTCCGCCGGCTGACGA	0.697000													66	40					0	0	1	0	0
KCTD9	54793	broad.mit.edu	37	8	25296851	25296851	+	Missense_Mutation	SNP	A	A	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:25296851A>G	ENST00000221200.4	-	6	663	c.443T>C	c.(442-444)aTt>aCt	p.I148T		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	148	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		GTAGTTCAAAATGGGTTCGAA	0.358000													10	50					0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715365	68715365	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:68715365C>T	ENST00000325631.5	+	2	227	c.153C>T	c.(151-153)ctC>ctT	p.L51L	MARVELD2_ENST00000413223.2_Silent_p.L51L	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	51	Poly-Pro.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CACCCCCTCTCCCATTACAGC	0.542000													50	10					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34310700	34310700	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr18:34310700C>T	ENST00000257209.4	+	17	3106	c.2984C>T	c.(2983-2985)cCt>cTt	p.P995L	FHOD3_ENST00000445677.1_Missense_Mutation_p.P957L|FHOD3_ENST00000591635.1_Missense_Mutation_p.P191L|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.P1170L|FHOD3_ENST00000359247.4_Missense_Mutation_p.P978L	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	978	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GTGCTGCCCCCTCCAAGGACG	0.413000													48	44					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73269905	73269905	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr10:73269905G>A	ENST00000224721.6	+	3	217	c.212G>A	c.(211-213)gGg>gAg	p.G71E	CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398809.4_Missense_Mutation_p.G71E|CDH23_ENST00000461841.3_Missense_Mutation_p.G116E|CDH23_ENST00000299366.7_Missense_Mutation_p.G116E|CDH23_ENST00000398842.3_Missense_Mutation_p.G71E	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	71	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGCGTGTCTGGGGAGGAGGCC	0.592000													51	7					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970848	151970848	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:151970848C>T	ENST00000355193.2	-	7	1172	c.954G>A	c.(952-954)caG>caA	p.Q318Q	KMT2C_ENST00000262189.6_Silent_p.Q318Q					lysine (K)-specific methyltransferase 2C																		GACTGAAATCCTGAAAGGTGC	0.423000													15	227					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51117584	51117584	+	Silent	SNP	C	C	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr22:51117584C>G	ENST00000414786.2	+	6	965	c.738C>G	c.(736-738)acC>acG	p.T246T	SHANK3_ENST00000445220.2_Silent_p.T246T|SHANK3_ENST00000262795.3_Silent_p.T246T			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	246										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGGGGATCACCGACGAGAATG	0.667000													9	7					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046551	73046551	+	RNA	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:73046551C>T	ENST00000604411.1	+	0	34512				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CCTCCAGATTCCGGCCGTTAG	0.502000													153	2					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57957188	57957188	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:57957188C>T	ENST00000564448.1	-	18	1674	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	CNGB1_ENST00000251102.8_Silent_p.P544P			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	544					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAGTGTCCTTCGGGGTGGTGG	0.582000													27	3					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099312	169099312	+	Splice_Site	SNP	T	T	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:169099312T>G	ENST00000494292.1	-	2	135	c.37_splice	c.e2-1	p.N13_splice	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	13							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACACTCATTATCTGTGAATAA	0.393000													10	5					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035969	36035969	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:36035969G>A	ENST00000282507.3	-	7	1504	c.1403C>T	c.(1402-1404)gCg>gTg	p.A468V	UGT3A2_ENST00000513300.1_Missense_Mutation_p.A434V|UGT3A2_ENST00000545528.1_Missense_Mutation_p.A166V	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	468						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGGTGCGTCGCGCCCCCTGT	0.632000													23	106					0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32954292	32954292	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:32954292C>T	ENST00000342179.5	+	13	1558	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.S448F|DPY19L3_ENST00000586987.1_Missense_Mutation_p.S448F	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	448						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					AATCAACAATCCGTGGGTAAA	0.338000													18	15					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													6	69					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30500666	30500666	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:30500666G>A	ENST00000356798.6	+	11	1352	c.1172G>A	c.(1171-1173)gGg>gAg	p.G391E	ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.G308E|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	391					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ACATTTATTGGGAATGAACCA	0.542000													66	4					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121930112	121930112	+	Silent	SNP	G	G	A	rs148767782		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr9:121930112G>A	ENST00000265922.3	-	8	1997	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		512					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGAAGGTGTCGAGGCGGATCT	0.562000													51	5					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985048	157985048	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:157985048G>A	ENST00000389413.3	-	5	623	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	PTPRN2_ENST00000389416.4_Missense_Mutation_p.H157Y|PTPRN2_ENST00000404321.2_Missense_Mutation_p.H197Y|PTPRN2_ENST00000389418.4_Missense_Mutation_p.H174Y|PTPRN2_ENST00000409483.1_Missense_Mutation_p.H136Y	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	174						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGCGCCGTATGGGTCCTGGCG	0.692000													45	65					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59750734	59750734	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:59750734G>A	ENST00000361421.1	-	5	1050	c.830C>T	c.(829-831)gCc>gTc	p.A277V		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	277						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CTTGATGGCGGCCTGAGTATC	0.463000													142	9					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19474666	19474666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:19474666C>T	ENST00000396229.2	+	7	1962	c.1213C>T	c.(1213-1215)Cag>Tag	p.Q405*	TMC5_ENST00000564959.1_Nonsense_Mutation_p.Q88*|TMC5_ENST00000541464.1_Nonsense_Mutation_p.Q405*|TMC5_ENST00000561503.1_Nonsense_Mutation_p.Q46*|TMC5_ENST00000381414.4_Nonsense_Mutation_p.Q405*|TMC5_ENST00000219821.5_Nonsense_Mutation_p.Q159*|TMC5_ENST00000542583.2_Nonsense_Mutation_p.Q405*	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	405						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTGCTGTATTCAGTGTCTGAA	0.453000													95	5					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264896	50264896	+	Missense_Mutation	SNP	T	T	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:50264896T>A	ENST00000284509.6	-	13	1267	c.1126A>T	c.(1126-1128)Acg>Tcg	p.T376S	ATP8B4_ENST00000559829.1_Missense_Mutation_p.T376S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	376					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGCGTGGTCGTTCGAGCCACT	0.428000													29	14					0	0	1	0	0
FGF17	8822	broad.mit.edu	37	8	21904051	21904051	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:21904051G>A	ENST00000359441.3	+	4	767	c.264G>A	c.(262-264)gtG>gtA	p.V88V	FGF17_ENST00000518533.1_Silent_p.V77V|FGF17_ENST00000521709.1_Intron	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	88					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AGCTCATAGTGGAGACGGACA	0.602000													67	21					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816956	1816956	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:1816956C>T	ENST00000250894.4	+	25	3226	c.3069C>T	c.(3067-3069)atC>atT	p.I1023I	MAPK8IP3_ENST00000356010.5_Silent_p.I1017I	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1023					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCCTGGCCATCTTCCACCGTG	0.662000													93	5					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57003346	57003346	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:57003346G>A	ENST00000200676.3	+	3	412	c.282G>A	c.(280-282)gtG>gtA	p.V94V	CETP_ENST00000566128.1_Silent_p.V29V|CETP_ENST00000379780.2_Silent_p.V94V|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	94					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TGGAGCTGGTGGAAGCCAAGT	0.552000													58	4					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9057316	9057316	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:9057316G>A	ENST00000383836.3	-	15	2205	c.1778C>T	c.(1777-1779)cCt>cTt	p.P593L	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.P569L|SRGAP3-AS1_ENST00000414633.1_RNA	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	593	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCTTTCCTTAGGAAAGAGTGG	0.393000			T	RAF1	pilocytic astrocytoma								43	29					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101944592	101944592	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:101944592G>A	ENST00000251127.6	-	8	1006	c.925C>T	c.(925-927)Ctc>Ttc	p.L309F	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.L309F	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	309						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCCAGGCGAGGAAGAAAATG	0.468000													13	28					0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79212996	79212996	+	Missense_Mutation	SNP	A	A	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:79212996A>T	ENST00000282003.6	-	4	569	c.511T>A	c.(511-513)Tat>Aat	p.Y171N		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	171							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		ACTTTTTCATAGATTTCATTA	0.313000													28	68					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90605675	90605675	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr6:90605675C>T	ENST00000369352.1	+	1	1488	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	496					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		AAGAGCTGTTCCATTCTGGAT	0.478000													83	7					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143039185	143039185	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:143039185C>T	ENST00000343257.2	+	15	1833	c.1746C>T	c.(1744-1746)atC>atT	p.I582I		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	582					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACAGCATCATCCAGGTCAAGA	0.547000													58	60					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													4	8					0.00909568	0.00909568	1	1	0
ABCC11	85320	broad.mit.edu	37	16	48244916	48244916	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:48244916C>T	ENST00000394747.1	-	10	1900	c.1551G>A	c.(1549-1551)gaG>gaA	p.E517E	ABCC11_ENST00000356608.2_Silent_p.E517E|ABCC11_ENST00000537808.1_Silent_p.E517E|ABCC11_ENST00000394748.1_Silent_p.E517E|ABCC11_ENST00000353782.5_Silent_p.E517E	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	517	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TCCCTTCTTCCTCTGGCCCGA	0.617000													25	4					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37682121	37682121	+	Silent	SNP	T	T	C			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr17:37682121T>C	ENST00000447079.4	+	13	3345	c.3312T>C	c.(3310-3312)ctT>ctC	p.L1104L	CDK12_ENST00000430627.2_Silent_p.L1104L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1104					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAACAGGCCTTGCTGACATCA	0.463000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			39	1					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60687718	60687718	+	Missense_Mutation	SNP	A	A	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:60687718A>G	ENST00000335712.6	-	4	2556	c.2329T>C	c.(2329-2331)Tat>Cat	p.Y777H	BCL11A_ENST00000538214.1_Missense_Mutation_p.Y743H|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.Y743H|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	777					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GCACAGGCATAGTTGCACAGC	0.483000			T	IGH@	B-CLL								53	110					0	0	1	0	0
PLA2G2A	5320	broad.mit.edu	37	1	20304910	20304910	+	Missense_Mutation	SNP	C	C	T	rs142941380		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:20304910C>T	ENST00000375111.3	-	4	419	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	PLA2G2A_ENST00000400520.3_Missense_Mutation_p.V50M|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	50					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCACCCACGCCACAGTGG	0.582000													23	9					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900620	151900620	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:151900620G>A	ENST00000393900.3	-	3	534	c.181C>T	c.(181-183)Cct>Tct	p.P61S	MAGEA12_ENST00000357916.4_Missense_Mutation_p.P61S|MAGEA12_ENST00000393869.3_Missense_Mutation_p.P61S|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	61										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGGGGAGGACTTGGTGAC	0.597000													156	1					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154033433	154033433	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:154033433G>A	ENST00000368559.3	-	19	2804	c.2733C>T	c.(2731-2733)aaC>aaT	p.N911N	NUP210L_ENST00000271854.3_Silent_p.N911N	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	911						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CATCAGGGTGGTTATAGATGG	0.363000													89	22					0	0	1	0	0
ZNF547	284306	broad.mit.edu	37	19	57883188	57883188	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:57883188C>T	ENST00000282282.3	+	3	213	c.63C>T	c.(61-63)tcC>tcT	p.S21S	AC003002.4_ENST00000597658.1_Silent_p.S21S	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATATTTCTCCCAGGAGGAGT	0.463000													95	67					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12300330	12300330	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:12300330G>T	ENST00000261349.4	-	15	3443	c.3367C>A	c.(3367-3369)Ctc>Atc	p.L1123I	LRP6_ENST00000543091.1_Missense_Mutation_p.L1123I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1123	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATTCGCCGGAGATCTGAATCA	0.408000													84	94					6.04572e-29	6.21136e-29	1	1	0
ANLN	54443	broad.mit.edu	37	7	36462323	36462323	+	Missense_Mutation	SNP	A	A	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:36462323A>G	ENST00000265748.2	+	14	2602	c.2381A>G	c.(2380-2382)cAa>cGa	p.Q794R	ANLN_ENST00000396068.2_Missense_Mutation_p.Q757R	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	794	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCTAGTCCCCAAAGTGAATTT	0.398000													118	93					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524205	24524205	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr20:24524205G>A	ENST00000376862.3	+	2	1105	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	158					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GGAGTTCCAGGAGCTGGAGGT	0.532000													59	210					0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435762	7435762	+	Missense_Mutation	SNP	T	T	C			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr4:7435762T>C	ENST00000319098.4	-	1	938	c.845A>G	c.(844-846)aAa>aGa	p.K282R	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	282					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						CTCGCTCTGTTTCCTTGGCAA	0.597000													50	10					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226576422	226576422	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:226576422C>T	ENST00000366794.5	-	5	795	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	218					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTCGCCACTTCATCCACTCCA	0.438000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					14	141					0	0	1	0	0
ZNF410	57862	broad.mit.edu	37	14	74364841	74364841	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:74364841C>T	ENST00000555044.1	+	5	650	c.456C>T	c.(454-456)ttC>ttT	p.F152F	ZNF410_ENST00000442160.3_Silent_p.F169F|ZNF410_ENST00000324593.6_Silent_p.F152F|ZNF410_ENST00000556797.1_Silent_p.F99F|ZNF410_ENST00000334521.4_Silent_p.F99F|ZNF410_ENST00000540593.1_Silent_p.F79F|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000412490.3_3'UTR	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GGAATGATTTCCTCTCCAGTG	0.463000													30	49					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102250644	102250644	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:102250644G>A	ENST00000376180.3	+	7	1229	c.1010G>A	c.(1009-1011)gGg>gAg	p.G337E	ITGBL1_ENST00000545560.2_Missense_Mutation_p.G196E|ITGBL1_ENST00000376162.3_Missense_Mutation_p.G244E	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	337	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTTGCTCTGGGAGGGGTAAG	0.507000													6	18					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	375960	375960	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:375960C>T	ENST00000342640.4	-	1	53	c.11G>A	c.(10-12)aGc>aAc	p.S4N	THEG_ENST00000346878.2_Missense_Mutation_p.S4N	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	4					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCTTCGCCTGCTGTCCCCCAT	0.682000													9	24					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111617273	111617273	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:111617273C>T	ENST00000428084.1	-	8	887	c.615G>A	c.(613-615)caG>caA	p.Q205Q	DOCK4_ENST00000437633.1_Silent_p.Q205Q|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	205					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGCTCTTCATCTGGACAAAGA	0.522000													22	20					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086328	56086328	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:56086328C>T	ENST00000312711.1	+	1	546	c.546C>T	c.(544-546)ctC>ctT	p.L182L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GTGACAGTCTCCCTTTGTTAC	0.333000													29	6					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62455986	62455986	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:62455986G>A	ENST00000371158.2	+	28	3931	c.3817G>A	c.(3817-3819)Gga>Aga	p.G1273R	INADL_ENST00000545929.1_5'UTR|INADL_ENST00000543708.1_Missense_Mutation_p.G57R|INADL_ENST00000316485.6_Missense_Mutation_p.G1273R	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1273	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TAACCCGGAAGGACCTGCTGC	0.438000													71	18					0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74835098	74835098	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:74835098C>T	ENST00000370895.1	+	18	1834	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F	TNNI3K_ENST00000326637.3_Missense_Mutation_p.S499F|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.S600F|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000370891.2_Missense_Mutation_p.S600F|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.S600F			Q59H18	TNI3K_HUMAN		499	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										ACCTACTGCTCCAAGTCAGAT	0.468000													71	14					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824268	54824268	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr20:54824268G>A	ENST00000243911.2	+	1	481	c.369G>A	c.(367-369)atG>atA	p.M123I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	160					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCGACTCCATGATCTGCATCT	0.557000													55	95					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21217491	21217491	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr17:21217491G>A	ENST00000342679.4	+	12	1242	c.993G>A	c.(991-993)aaG>aaA	p.K331K	MAP2K3_ENST00000361818.5_Silent_p.K302K|MAP2K3_ENST00000316920.6_Silent_p.K302K	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	331					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ACAAAACCAAGAAGACGGACA	0.622000													135	261					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114158660	114158660	+	Splice_Site	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr10:114158660G>A	ENST00000393081.1	+	3	465	c.156_splice	c.e3-1	p.G53_splice	ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000354273.4_Splice_Site_p.G53_splice|ACSL5_ENST00000354655.4_Splice_Site_p.G53_splice|ACSL5_ENST00000356116.1_Splice_Site_p.G109_splice|ACSL5_ENST00000433418.1_Splice_Site_p.G53_splice	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	53					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GTGTCTTAGGGAGGAGCACGG	0.438000													47	4					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93119107	93119107	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:93119107C>T	ENST00000216487.7	+	6	1872	c.1713C>T	c.(1711-1713)ccC>ccT	p.P571P	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	571					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGAAGAAGCCCTCCATGATCC	0.597000													16	41					0	0	1	0	0
NDNL2	56160	broad.mit.edu	37	15	29561213	29561213	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:29561213G>A	ENST00000332303.4	-	1	820	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	233	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGGTATTCCAGGTAACGCTGT	0.517000													68	54					0	0	1	0	0
ELP2	55250	broad.mit.edu	37	18	33718315	33718315	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr18:33718315C>T	ENST00000358232.6	+	4	434	c.371C>T	c.(370-372)cCt>cTt	p.P124L	ELP2_ENST00000423854.2_Missense_Mutation_p.P124L|ELP2_ENST00000350494.6_Missense_Mutation_p.P124L|ELP2_ENST00000442325.2_Missense_Mutation_p.P124L|ELP2_ENST00000351393.6_Missense_Mutation_p.P124L|ELP2_ENST00000542824.1_Missense_Mutation_p.P124L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	124					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ACATCAGATCCTGCATTATGT	0.448000													73	45					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174717	63174717	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:63174717C>T	ENST00000322893.7	-	11	2744	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	826					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCCAGTCTTCCTTTTTCTCC	0.433000													25	46					0	0	1	0	0
FOPNL	123811	broad.mit.edu	37	16	15978037	15978037	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:15978037C>T	ENST00000255759.6	-	2	83	c.54G>A	c.(52-54)aaG>aaA	p.K18K	FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000575073.1_Silent_p.K18K|FOPNL_ENST00000573968.1_Silent_p.K18K|FOPNL_ENST00000573396.1_Silent_p.K18K|FOPNL_ENST00000573429.1_Silent_p.K18K	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	18	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding			breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						CTAATACCCCCTTTTTTTCCA	0.378000													14	3					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229252	21229252	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:21229252G>A	ENST00000233242.1	-	26	10615	c.10488C>T	c.(10486-10488)acC>acT	p.T3496T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3496	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATCTCCTTTGGTAGATGACT	0.438000													88	9					0	0	1	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74211431	74211431	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:74211431G>A	ENST00000405086.2	-	16	2609	c.2420C>T	c.(2419-2421)cCc>cTc	p.P807L	GTF2IRD2_ENST00000451013.2_Missense_Mutation_p.P354L	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tttcagggtgggaaagtgggc	0.488000													194	140					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101597174	101597174	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:101597174G>A	ENST00000284395.5	+	29	4837	c.4437G>A	c.(4435-4437)ccG>ccA	p.P1479P	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.P1482P			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1482	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCATCCGCCCGGTTCTGGGGC	0.612000													24	128					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94741786	94741786	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:94741786C>T	ENST00000304338.3	+	24	2679	c.2525C>T	c.(2524-2526)tCc>tTc	p.S842F		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	842						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.S842F(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCGAGTACTTCCCGTGGGACA	0.448000													26	59					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50453359	50453359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:50453359C>T	ENST00000447370.2	-	11	2055	c.1965G>A	c.(1963-1965)tgG>tgA	p.W655*	SIGLEC11_ENST00000426971.2_Nonsense_Mutation_p.W559*|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	655					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CCGCAGGCTCCCAGAGCCTCA	0.657000													17	15					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9407126	9407126	+	Silent	SNP	A	A	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:9407126A>G	ENST00000591998.1	-	6	1182	c.954T>C	c.(952-954)tgT>tgC	p.C318C	ZNF699_ENST00000308650.3_Silent_p.C318C			Q32M78	ZN699_HUMAN	zinc finger protein 699	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGAGGAGGAACAACTGAAGG	0.418000													21	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428362	179428362	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:179428362G>A	ENST00000589042.1	-	326	82721	c.82497C>T	c.(82495-82497)acC>acT	p.T27499T	TTN_ENST00000359218.5_Silent_p.T18559T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.T18434T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.T24931T|TTN_ENST00000342175.6_Silent_p.T18626T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T25858T|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25858	Fibronectin type-III 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T24929T(1)|p.T18626T(1)|p.T18434T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCAATTTCGGTACCTCCGT	0.478000													123	14					0	0	1	0	0
ERICH1	157697	broad.mit.edu	37	8	623733	623733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:623733C>A	ENST00000262109.7	-	4	696	c.619G>T	c.(619-621)Gag>Tag	p.E207*	ERICH1_ENST00000522706.1_Nonsense_Mutation_p.E113*	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	207	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CCATCCTCCTCACAAGCCTCT	0.592000													136	35					7.73745e-69	8.11621e-69	1	1	0
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1																						TCACTGACATCGAAGGCTGCC	0.632000													5	39					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919635	12919635	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:12919635C>T	ENST00000240189.2	+	3	462	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	125										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCTGCTTCCCAGAGGCCA	0.537000													316	208					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25058824	25058824	+	Missense_Mutation	SNP	A	A	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:25058824A>G	ENST00000381989.3	-	12	1520	c.1415T>C	c.(1414-1416)cTt>cCt	p.L472P		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	472	PARP catalytic.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CCCACTTCCAAGGTTTCCGAC	0.428000													53	180					0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3647494	3647494	+	Missense_Mutation	SNP	C	C	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:3647494C>G	ENST00000378295.4	+	12	1504	c.1349C>G	c.(1348-1350)cCc>cGc	p.P450R	TP73_ENST00000354437.4_Missense_Mutation_p.P450R|TP73_ENST00000346387.4_Intron|TP73_ENST00000604479.1_Intron|TP73_ENST00000378280.1_Silent_p.P351P|TP73_ENST00000378288.4_Missense_Mutation_p.P401R|TP73_ENST00000378290.4_Missense_Mutation_p.P379R|TP73_ENST00000357733.3_Silent_p.P400P|TP73_ENST00000378285.1_Missense_Mutation_p.P401R|TP73_ENST00000604074.1_Intron|TP73_ENST00000603362.1_Silent_p.P400P	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	450					cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CACCCAGGCCCCGGGATGCTC	0.682000													18	8					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50584131	50584131	+	Missense_Mutation	SNP	C	C	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr22:50584131C>A	ENST00000262794.5	+	19	2602	c.2519C>A	c.(2518-2520)gCc>gAc	p.A840D	MOV10L1_ENST00000395858.3_Missense_Mutation_p.A840D|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A840D|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A820D	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	840					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTTATTGACGCCGTCAAACCG	0.473000													93	31					4.81362e-53	5.01419e-53	1	1	0
CSAG1	158511	broad.mit.edu	37	X	151909142	151909142	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:151909142C>T	ENST00000370287.3	+	5	499	c.171C>T	c.(169-171)ttC>ttT	p.F57F	CSAG1_ENST00000452779.2_Silent_p.F57F|CSAG1_ENST00000370291.2_3'UTR	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	57										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCAGGTTCCCAAGACAAC	0.512000													114	4					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118344861	118344861	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:118344861C>T	ENST00000534358.1	+	3	3010	c.2987C>T	c.(2986-2988)tCt>tTt	p.S996F	KMT2A_ENST00000389506.5_Missense_Mutation_p.S996F|KMT2A_ENST00000354520.4_Missense_Mutation_p.S996F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		ACTCCTTCATCTAGCACTGTT	0.498000													53	1					0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698383	111698383	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:111698383G>A	ENST00000340433.2	+	1	657	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	143							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CACAAAACAGGAAATCAATCC	0.428000													106	2					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54913067	54913067	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:54913067G>A	ENST00000474759.1	+	19	1781	c.1733G>A	c.(1732-1734)cGa>cAa	p.R578Q	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R578Q|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R578Q|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R484Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	578						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.R578Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ATGGTGAATCGAAAGACGGGG	0.393000													10	18					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	82070612	82070612	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:82070612G>A	ENST00000550584.2	-	3	556	c.261C>T	c.(259-261)tcC>tcT	p.S87S	PPFIA2_ENST00000552948.1_Silent_p.S87S|PPFIA2_ENST00000549325.1_Intron|PPFIA2_ENST00000549396.1_Silent_p.S87S|PPFIA2_ENST00000548586.1_Silent_p.S87S|PPFIA2_ENST00000333447.7_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	345										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTCCTGTTAGGGATTCGATAT	0.423000													20	3					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50489786	50489786	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:50489786G>A	ENST00000267842.5	+	2	800	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	SLC27A2_ENST00000544960.1_5'UTR|SLC27A2_ENST00000380902.4_Missense_Mutation_p.G190R	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	190					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TAACACAGATGGGATTGACTC	0.403000													39	25					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288489	77288489	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr4:77288489C>T	ENST00000388914.3	-	11	1940	c.1788G>A	c.(1786-1788)gaG>gaA	p.E596E		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	596										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TAATTTCTTTCTCCAGTTGAG	0.408000													68	2					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195492214	195492214	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:195492214G>A	ENST00000463781.3	-	9	14184	c.13725C>T	c.(13723-13725)ggC>ggT	p.G4575G	MUC4_ENST00000349607.4_Silent_p.G288G|MUC4_ENST00000346145.4_Silent_p.G339G|MUC4_ENST00000475231.1_Silent_p.G4523G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1332					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGGTTCCAGCCCCAGCTGG	0.622000													26	27					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50468176	50468176	+	Missense_Mutation	SNP	T	T	C			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:50468176T>C	ENST00000331340.3	+	8	1566	c.1411T>C	c.(1411-1413)Ttc>Ctc	p.F471L	IKZF1_ENST00000343574.5_Missense_Mutation_p.F384L|IKZF1_ENST00000346667.4_Missense_Mutation_p.F241L|IKZF1_ENST00000357364.4_Missense_Mutation_p.F384L|IKZF1_ENST00000349824.4_Missense_Mutation_p.F328L|IKZF1_ENST00000439701.1_Missense_Mutation_p.F429L|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.F429L|IKZF1_ENST00000438033.1_Missense_Mutation_p.F384L	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	471	Required for binding PP1CC (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCGGGTGCTCTTCCTGGATCA	0.622000			"""D,T"""	BCL6	"""ALL, DLBCL"""								50	33					0	0	1	0	0
ERCC5	2073	broad.mit.edu	37	13	103498695	103498695	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:103498695C>T	ENST00000355739.4	+	1	1502	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L	BIVM-ERCC5_ENST00000602836.1_Intron|ERCC5_ENST00000535557.1_Silent_p.L27L	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGGAAGATCCTGGCTGTTGG	0.657000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	30					0	0	1	0	0
NDST2	8509	broad.mit.edu	37	10	75562316	75562316	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr10:75562316C>T	ENST00000299641.4	-	16	3146	c.2176G>A	c.(2176-2178)Gat>Aat	p.D726N	NDST2_ENST00000309979.6_Missense_Mutation_p.D849N	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	849	Heparan sulfate N-sulfotransferase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CGGAAAAAATCCGTAAGGAAA	0.517000													28	2					0	0	1	0	0
KCTD9	54793	broad.mit.edu	37	8	25287476	25287476	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:25287476G>A	ENST00000221200.4	-	12	1287	c.1067C>T	c.(1066-1068)tCt>tTt	p.S356F		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	356	Pentapeptide repeat 3.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		ATCACACCCAGACAGATCACA	0.408000													16	126					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9495492	9495492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:9495492C>T	ENST00000402466.1	+	18	2890	c.2122C>T	c.(2122-2124)Cag>Tag	p.Q708*	SETD5_ENST00000402198.1_Nonsense_Mutation_p.Q806*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.Q825*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.Q708*|SETD5_ENST00000406341.1_Nonsense_Mutation_p.Q806*|SETD5_ENST00000488236.1_3'UTR			Q9C0A6	SETD5_HUMAN	SET domain containing 5	806										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GACTAGAACTCAGCACCTATA	0.373000													41	41					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122674711	122674711	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:122674711G>A	ENST00000339777.4	+	5	725	c.697G>A	c.(697-699)Gac>Aac	p.D233N	LRRC43_ENST00000425921.1_Missense_Mutation_p.D48N	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	233										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GGGCTTCAACGACCTGACAGA	0.642000													150	14					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109369912	109369912	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:109369912C>T	ENST00000370001.3	-	11	2119	c.1851G>A	c.(1849-1851)gtG>gtA	p.V617V	AKNAD1_ENST00000369994.1_Silent_p.V587V|AKNAD1_ENST00000369995.3_Silent_p.V617V|AKNAD1_ENST00000357393.4_Silent_p.V324V	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	617										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						CCTTTTTCTCCACGTTTTGCT	0.383000													172	42					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30978850	30978850	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:30978850C>T	ENST00000262519.8	+	10	3397	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	904	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCGGAAATTTCCGAGGCCAGT	0.572000													74	9					0	0	1	0	0
IGLV3-21	28796	broad.mit.edu	37	22	23055591	23055591	+	RNA	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr22:23055591C>T	ENST00000390308.2	+	0	505																											GGCTCCAACTCTGGGAACACG	0.597000													15	52					0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89658686	89658686	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr4:89658686C>T	ENST00000264344.5	-	21	2790	c.2583G>A	c.(2581-2583)cgG>cgA	p.R861R	FAM13A_ENST00000503556.1_Silent_p.R521R|FAM13A_ENST00000513837.1_Silent_p.R507R|FAM13A_ENST00000508369.1_Silent_p.R535R|FAM13A_ENST00000395002.2_Intron|FAM13A_ENST00000511976.1_Silent_p.R447R	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	861					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AAGGGCTTCTCCGCTTGCTGG	0.537000													59	11					0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117383244	117383244	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:117383244C>T	ENST00000455858.2	+	3	374	c.301C>T	c.(301-303)Ccg>Tcg	p.P101S	FBXW8_ENST00000309909.5_Missense_Mutation_p.P167S	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	167							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		AGGGCACCTTCCGGATAGCAG	0.522000													47	1					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038002	62038002	+	Missense_Mutation	SNP	T	T	C			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr20:62038002T>C	ENST00000354587.3	-	17	2814	c.2638A>G	c.(2638-2640)Aag>Gag	p.K880E	KCNQ2_ENST00000370226.1_Missense_Mutation_p.K842E|KCNQ2_ENST00000357249.2_Missense_Mutation_p.K854E|KCNQ2_ENST00000344462.3_Missense_Mutation_p.K868E|KCNQ2_ENST00000359125.2_Missense_Mutation_p.K872E|KCNQ2_ENST00000430658.1_Missense_Mutation_p.K841E|KCNQ2_ENST00000360480.3_Missense_Mutation_p.K844E|KCNQ2_ENST00000359689.1_Missense_Mutation_p.K872E|KCNQ2_ENST00000370224.1_Missense_Mutation_p.K880E			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	872					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCGCCTCACTTCCTGGGCCCG	0.716000													17	16					0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3647495	3647495	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:3647495C>T	ENST00000357733.3	+	11	1311	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	TP73_ENST00000378295.4_Silent_p.P450P|TP73_ENST00000354437.4_Silent_p.P450P|TP73_ENST00000346387.4_Intron|TP73_ENST00000604479.1_Intron|TP73_ENST00000378280.1_Missense_Mutation_p.R352W|TP73_ENST00000378288.4_Silent_p.P401P|TP73_ENST00000378290.4_Silent_p.P379P|TP73_ENST00000378285.1_Silent_p.P401P|TP73_ENST00000604074.1_Intron|TP73_ENST00000603362.1_Missense_Mutation_p.R401W	NM_001204187.1	NP_001191116.1	O15350	P73_HUMAN	tumor protein p73	401					cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		ACCCAGGCCCCGGGATGCTCA	0.682000													18	8					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				81	71					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517378	140517378	+	Missense_Mutation	SNP	T	T	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:140517378T>G	ENST00000231134.5	+	1	2579	c.2362T>G	c.(2362-2364)Ttc>Gtc	p.F788V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		788					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTGCTGCCTTCCGGAATAG	0.473000													94	10					0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206241635	206241635	+	Missense_Mutation	SNP	C	C	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:206241635C>G	ENST00000331555.5	-	4	792	c.154G>C	c.(154-156)Gtt>Ctt	p.V52L		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	52						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GGCCTGGGAACCTGGAGACTG	0.552000													25	76					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76124678	76124678	+	Missense_Mutation	SNP	C	C	T	rs145500939	byFrequency	TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr6:76124678C>T	ENST00000393004.2	-	2	232	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	FILIP1_ENST00000237172.7_Missense_Mutation_p.R4Q			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	4										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACCTTGGTTTCGAGATCTCAT	0.388000													74	4					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19554704	19554704	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:19554704C>T	ENST00000328405.2	+	13	2588	c.2322C>T	c.(2320-2322)tcC>tcT	p.S774S		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	774						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GGTCAAATTCCCCCAAAACCA	0.468000													59	40					0	0	1	0	0
UNKL	64718	broad.mit.edu	37	16	1448894	1448894	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:1448894G>A	ENST00000301712.5	-	6	842	c.783C>T	c.(781-783)aaC>aaT	p.N261N	UNKL_ENST00000508903.2_Intron|UNKL_ENST00000397462.1_Intron|UNKL_ENST00000389221.4_Intron	NM_001037125.2	NP_001032202.1	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	0						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				CGACCCTTGGGTTGTTGGCCC	0.662000													5	0					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	801464	801464	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:801464G>A	ENST00000347755.5	-	8	1604	c.1463C>T	c.(1462-1464)cCt>cTt	p.P488L	PIDD_ENST00000411829.2_Missense_Mutation_p.P488L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	488	ZU5 2.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GACTCGACGAGGCTCCTCAGT	0.667000													8	0					0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3647493	3647493	+	Missense_Mutation	SNP	C	C	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:3647493C>G	ENST00000378295.4	+	12	1503	c.1348C>G	c.(1348-1350)Ccc>Gcc	p.P450A	TP73_ENST00000354437.4_Missense_Mutation_p.P450A|TP73_ENST00000346387.4_Intron|TP73_ENST00000604479.1_Intron|TP73_ENST00000378280.1_Missense_Mutation_p.P351R|TP73_ENST00000378288.4_Missense_Mutation_p.P401A|TP73_ENST00000378290.4_Missense_Mutation_p.P379A|TP73_ENST00000357733.3_Missense_Mutation_p.P400R|TP73_ENST00000378285.1_Missense_Mutation_p.P401A|TP73_ENST00000604074.1_Intron|TP73_ENST00000603362.1_Missense_Mutation_p.P400R	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	450					cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TCACCCAGGCCCCGGGATGCT	0.677000													18	8					0	0	1	0	0
TRGV8	6982	broad.mit.edu	37	7	38370472	38370472	+	RNA	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:38370472G>A	ENST00000390343.2	-	0	64																											AAGAGGAGCAGAAGACCCTCT	0.512000													40	38					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	147					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24826600	24826600	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:24826600G>A	ENST00000395799.3	+	19	4934	c.4805G>A	c.(4804-4806)gGc>gAc	p.G1602D	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000432286.2_Missense_Mutation_p.G80D|TNRC6A_ENST00000315183.7_Missense_Mutation_p.G1553D	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1602					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCGCCTAACGGCTCTAGCAGT	0.433000													67	2					0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33501951	33501951	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr20:33501951G>A	ENST00000360596.2	+	6	907	c.696G>A	c.(694-696)gaG>gaA	p.E232E	ACSS2_ENST00000336325.4_Silent_p.E182E|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Silent_p.E232E	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	232					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGGCTGACGAGGCCCTGCAGA	0.542000													54	26					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73269904	73269904	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr10:73269904G>A	ENST00000224721.6	+	3	216	c.211G>A	c.(211-213)Ggg>Agg	p.G71R	CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398809.4_Missense_Mutation_p.G71R|CDH23_ENST00000461841.3_Missense_Mutation_p.G116R|CDH23_ENST00000299366.7_Missense_Mutation_p.G116R|CDH23_ENST00000398842.3_Missense_Mutation_p.G71R	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	71	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGCGTGTCTGGGGAGGAGGC	0.587000													52	7					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19749133	19749133	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:19749133C>T	ENST00000203556.4	-	9	761	c.624G>A	c.(622-624)gaG>gaA	p.E208E	GMIP_ENST00000445806.2_Silent_p.E208E|GMIP_ENST00000587238.1_Silent_p.E208E	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	208					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCTGCACCGCCTCATTCTGGG	0.657000													14	6					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357409	38357409	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:38357409C>T	ENST00000379705.3	-	2	919	c.62G>A	c.(61-63)aGg>aAg	p.R21K	TRPC4_ENST00000358477.2_Missense_Mutation_p.R21K|TRPC4_ENST00000379679.1_Missense_Mutation_p.R21K|TRPC4_ENST00000338947.5_Missense_Mutation_p.R21K|TRPC4_ENST00000379681.3_Missense_Mutation_p.R21K|TRPC4_ENST00000355779.2_Missense_Mutation_p.R21K|TRPC4_ENST00000379673.2_Missense_Mutation_p.R21K|TRPC4_ENST00000447043.1_Missense_Mutation_p.R21K|TRPC4_ENST00000426868.2_Missense_Mutation_p.R21K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	21					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCTTACTATCCTTAGAGGGAT	0.413000													53	141					0	0	1	0	0
C6orf195	154386	broad.mit.edu	37	6	2623770	2623770	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr6:2623770G>A	ENST00000296847.3	-	3	810	c.287C>T	c.(286-288)aCa>aTa	p.T96I		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	96										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CTTGAAGGGTGTGGGACCCGT	0.567000													44	56					0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21134267	21134267	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr22:21134267G>A	ENST00000215727.5	+	2	950	c.667G>A	c.(667-669)Gac>Aac	p.D223N	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.D223N	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	223					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	GTCAGTCAATGACCTTTATAT	0.443000													71	24					0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41750553	41750553	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr4:41750553G>A	ENST00000226382.2	-	1	434	c.75C>T	c.(73-75)agC>agT	p.S25S	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	25					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTGAAGCCAGGCTCGAGGTGT	0.522000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	21					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129950821	129950821	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:129950821G>A	ENST00000222482.4	+	9	1016	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	CPA4_ENST00000493259.1_Missense_Mutation_p.E226K|CPA4_ENST00000445470.2_Missense_Mutation_p.E297K	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	330					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					AGATGCCGAGGAACTCGTGAG	0.572000													113	115					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93499706	93499706	+	Silent	SNP	T	T	C			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:93499706T>C	ENST00000394196.4	+	16	2895	c.1827T>C	c.(1825-1827)atT>atC	p.I609I	CHD2_ENST00000557381.1_Silent_p.I609I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	609	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGGGCAGTATTAACTGGGCCT	0.418000													42	58					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50303397	50303397	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:50303397C>T	ENST00000354293.5	+	11	1611	c.1445C>T	c.(1444-1446)aCc>aTc	p.T482I	AP2A1_ENST00000359032.5_Missense_Mutation_p.T482I	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	482					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GCCGCCAAGACCGTCTTTGAG	0.632000													9	10					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56297152	56297152	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:56297152C>T	ENST00000443188.1	-	12	3651	c.2941G>A	c.(2941-2943)Gaa>Aaa	p.E981K	NLRP11_ENST00000592953.1_Missense_Mutation_p.E882K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E927K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E981K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E927K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	981							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GACCAAGTTTCAGACAGAAAG	0.398000													11	33					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491125	30491125	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:30491125G>A	ENST00000222823.4	-	6	2433	c.1908C>T	c.(1906-1908)ccC>ccT	p.P636P		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	636					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCTGAACGCGGGGCAGGCTCT	0.637000													23	36					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52579308	52579308	+	Missense_Mutation	SNP	C	C	T	rs142483540		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:52579308C>T	ENST00000313234.5	-	2	461	c.364G>A	c.(364-366)Gac>Aac	p.D122N	KRT80_ENST00000394815.2_Missense_Mutation_p.D122N	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	122	Linker 1.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		ATGGCTGAGTCCTGGCCCTGC	0.637000													50	3					0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45931560	45931560	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:45931560C>T	ENST00000275525.3	+	3	845	c.549C>T	c.(547-549)gtC>gtT	p.V183V	IGFBP1_ENST00000468955.1_Intron|IGFBP1_ENST00000457280.1_Silent_p.V183V	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	183	Thyroglobulin type-1.		V -> I (in dbSNP:rs1065782).			extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TCTACAGAGTCGTAGAGAGTT	0.413000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	34					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39079180	39079180	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:39079180G>A	ENST00000379907.4	+	13	1412	c.1285G>A	c.(1285-1287)Gga>Aga	p.G429R	ADAM32_ENST00000519315.1_Missense_Mutation_p.G323R|ADAM32_ENST00000437682.2_Missense_Mutation_p.G330R	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	429	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ACTGAAAGACGGAGCAAAATG	0.338000													3	34					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59225615	59225615	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:59225615G>A	ENST00000380516.2	-	1	237	c.150C>T	c.(148-150)tcC>tcT	p.S50S	SLTM_ENST00000536328.1_5'UTR|SLTM_ENST00000557950.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	50	SAP.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCTTGAGTCGGGAGATGAGCA	0.642000													10	28					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7700520	7700520	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:7700520C>T	ENST00000303635.7	+	7	778	c.571C>T	c.(571-573)Cct>Tct	p.P191S	CAMTA1_ENST00000439411.2_Missense_Mutation_p.P191S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGCGGCAAGCCTTGCGGCCC	0.597000			T	WWTR1	epitheliod hemangioendothelioma								14	156					0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7975228	7975228	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:7975228C>T	ENST00000545011.1	+	4	608	c.543C>T	c.(541-543)ttC>ttT	p.F181F	MAP2K7_ENST00000397979.3_Silent_p.F139F|MAP2K7_ENST00000397981.3_Silent_p.F139F|MAP2K7_ENST00000397983.3_Silent_p.F155F			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	139	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	AGATGCGCTTCCGGAAGACCG	0.667000													12	6					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7516792	7516792	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:7516792C>T	ENST00000399429.3	-	14	1324	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	395	Collagen-like 3.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCTGGTACTCCCTCAGGACC	0.498000													15	36					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61767069	61767069	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:61767069C>T	ENST00000423902.2	+	32	7402	c.6923C>T	c.(6922-6924)tCg>tTg	p.S2308L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2308					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTTGCCTTCTCGTTTTGGCCT	0.423000													96	2					0	0	1	0	0
HLA-V	352962	broad.mit.edu	37	6	29761676	29761676	+	RNA	SNP	C	C	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr6:29761676C>G	ENST00000457107.1	+	0	902																											gagagggtttcatattcaaga	0.493000													5	17					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54825248	54825248	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:54825248G>A	ENST00000545554.1	+	25	5680	c.5680G>A	c.(5680-5682)Gat>Aat	p.D1894N	UNC13C_ENST00000260323.11_Missense_Mutation_p.D1894N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1892N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1894	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCTCTTATGGATTTTTTGGA	0.343000													9	5					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2538422	2538422	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:2538422C>T	ENST00000288709.6	-	7	835	c.595G>A	c.(595-597)Gag>Aag	p.E199K	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Missense_Mutation_p.E208K	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	208					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCTACGGTCTCGTTCCACCTG	0.642000													18	116					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208495	106208495	+	RNA	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:106208495C>T	ENST00000390548.2	-	0	404																											TCCGGGAGATCATGAGGGTGT	0.602000													27	63					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114508862	114508862	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:114508862C>T	ENST00000369558.1	+	11	2581	c.2349C>T	c.(2347-2349)gcC>gcT	p.A783A	HIPK1_ENST00000406344.1_Silent_p.A389A|HIPK1_ENST00000340480.4_Silent_p.A409A|HIPK1_ENST00000369553.1_Silent_p.A389A|HIPK1_ENST00000369554.2_Silent_p.A738A|HIPK1_ENST00000369555.2_Silent_p.A738A|HIPK1_ENST00000369559.4_Silent_p.A783A|HIPK1_ENST00000369561.4_Silent_p.A749A|HIPK1_ENST00000426820.2_Silent_p.A783A			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCAGAGGCCATGGGGAGTG	0.542000													4	53					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068609	5068609	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:5068609C>T	ENST00000380370.1	+	1	854	c.854C>T	c.(853-855)cCa>cTa	p.P285L		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGATTATCCCACCCTCTCTC	0.383000													50	5					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62289219	62289219	+	Missense_Mutation	SNP	G	G	A	rs143211270	by1000genomes	TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:62289219G>A	ENST00000519846.1	+	4	983	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.E171K			Q8IUQ0	CLVS1_HUMAN	clavesin 1	171	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.E171K(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGTCCTAATCGAAGATCCGGA	0.438000													101	4					0	0	1	0	0
APCDD1	147495	broad.mit.edu	37	18	10471920	10471920	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr18:10471920C>T	ENST00000355285.4	+	3	990	c.636C>T	c.(634-636)atC>atT	p.I212I	APCDD1_ENST00000578882.1_Intron|APCDD1_ENST00000584596.1_3'UTR	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	212					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TTCAGCTCATCCGGGTGGAGA	0.572000													204	155					0	0	1	0	0
VTRNA2-1	100126299	broad.mit.edu	37	5	135416251	135416251	+	RNA	SNP	G	G	C			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:135416251G>C	ENST00000602301.1	-	0	35					NR_030583.2																						AGAAAGTCCGGCATGAGGAGG	0.512000													41	2					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428363	179428363	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:179428363G>A	ENST00000589042.1	-	326	82720	c.82496C>T	c.(82495-82497)aCc>aTc	p.T27499I	TTN_ENST00000359218.5_Missense_Mutation_p.T18559I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T18434I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T24931I|TTN_ENST00000342175.6_Missense_Mutation_p.T18626I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T25858I|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25858	Fibronectin type-III 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAATTTCGGTACCTCCGTC	0.478000													125	14					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50584132	50584132	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr22:50584132C>T	ENST00000262794.5	+	19	2603	c.2520C>T	c.(2518-2520)gcC>gcT	p.A840A	MOV10L1_ENST00000395858.3_Silent_p.A840A|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Silent_p.A840A|MOV10L1_ENST00000540615.1_Silent_p.A820A	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	840					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTATTGACGCCGTCAAACCGT	0.478000													95	33					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212014	131212014	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:131212014G>A	ENST00000298542.4	-	12	2206	c.2031C>T	c.(2029-2031)atC>atT	p.I677I	FRMD7_ENST00000464296.1_Silent_p.I662I|FRMD7_ENST00000370879.1_Silent_p.I557I	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	677					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AAGACAGGCGGATTCTGGCCA	0.403000													101	3					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186692926	186692926	+	Splice_Site	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:186692926G>A	ENST00000343098.5	+	21	20784	c.20784_splice	c.e21+1	p.K6928_splice	FSIP2_ENST00000424728.1_Splice_Site_p.K6839_splice	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACAGTGTTAAGGTAAGTATTT	0.333000													40	5					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40054016	40054016	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr20:40054016G>T	ENST00000373233.3	-	29	4325	c.4148C>A	c.(4147-4149)cCa>cAa	p.P1383Q		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1383					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGATTTGTCTGGGTCGGAGCC	0.488000													39	27					8.69298e-16	8.78079e-16	1	1	0
MIR1185-2	100302209	broad.mit.edu	37	14	101510585	101510585	+	RNA	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:101510585G>A	ENST00000408687.1	+	0	51					NR_031571.1																						GATTAATGGCGAATATACAGG	0.507000													3	9					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204985602	204985602	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:204985602G>A	ENST00000367172.4	+	32	4307	c.3979G>A	c.(3979-3981)Gaa>Aaa	p.E1327K	NFASC_ENST00000367171.4_Missense_Mutation_p.E1312K|NFASC_ENST00000338515.6_Missense_Mutation_p.E1237K|NFASC_ENST00000367170.4_Missense_Mutation_p.E1248K|NFASC_ENST00000338586.6_Missense_Mutation_p.E1204K|NFASC_ENST00000404076.1_Missense_Mutation_p.E1137K|NFASC_ENST00000367169.4_Missense_Mutation_p.E1051K|NFASC_ENST00000539706.1_Missense_Mutation_p.E1154K|NFASC_ENST00000360049.4_Missense_Mutation_p.E1149K|NFASC_ENST00000401399.1_Missense_Mutation_p.E1220K|NFASC_ENST00000513543.1_Missense_Mutation_p.E1149K|NFASC_ENST00000339876.6_Missense_Mutation_p.E1220K|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404907.1_Missense_Mutation_p.E1154K			O94856	NFASC_HUMAN	neurofascin	1327					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGACAAGGAGGAAACAGAGGG	0.567000													16	121					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140406896	140406896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:140406896C>T	ENST00000286349.3	+	3	1563	c.1372C>T	c.(1372-1374)Cag>Tag	p.Q458*		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	458	COS.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGACGGCATCCAGACCACCTA	0.572000													9	35					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57619097	57619097	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711000													3	30					0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3452367	3452367	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:3452367G>A	ENST00000268655.4	+	1	948	c.363G>A	c.(361-363)gtG>gtA	p.V121V	ZNF174_ENST00000572544.1_Silent_p.V121V|ZNF174_ENST00000571936.1_Silent_p.V121V|ZNF174_ENST00000344823.5_Silent_p.V121V|ZNF174_ENST00000575752.1_Silent_p.V121V|LA16c-306E5.2_ENST00000575785.1_RNA	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	121	SCAN box.				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TGACCCTCGTGGAAGATTTTC	0.488000													111	136					0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3452368	3452368	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:3452368G>A	ENST00000268655.4	+	1	949	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	ZNF174_ENST00000572544.1_Missense_Mutation_p.E122K|ZNF174_ENST00000571936.1_Missense_Mutation_p.E122K|ZNF174_ENST00000344823.5_Missense_Mutation_p.E122K|ZNF174_ENST00000575752.1_Missense_Mutation_p.E122K|LA16c-306E5.2_ENST00000575785.1_RNA	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	122	SCAN box.				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GACCCTCGTGGAAGATTTTCA	0.488000													112	133					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74836781	74836781	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:74836781C>T	ENST00000346246.5	+	2	735	c.504C>T	c.(502-504)gtC>gtT	p.V168V		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CACCTTCTGTCTCCACAGCAG	0.517000													14	57					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74973431	74973431	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:74973431C>T	ENST00000261978.4	-	27	4389	c.4003G>A	c.(4003-4005)Gag>Aag	p.E1335K	LTBP2_ENST00000556690.1_Missense_Mutation_p.E1291K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1335	Cys-rich.|EGF-like 15; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGAGAGATCTCGAAGCCCTGG	0.617000													11	30					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57054642	57054642	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:57054642C>T	ENST00000436936.1	+	3	243	c.18C>T	c.(16-18)ctC>ctT	p.L6L	NLRC5_ENST00000262510.6_Silent_p.L6L|NLRC5_ENST00000308149.7_Silent_p.L6L|NLRC5_ENST00000539144.1_Silent_p.L6L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	6					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)				CCGTTGGCCTCCAGCTCGGCA	0.587000													36	5					0	0	1	0	0
IGFALS	3483	broad.mit.edu	37	16	1841005	1841005	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:1841005C>T	ENST00000415638.3	-	2	1607	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	IGFALS_ENST00000215539.3_Missense_Mutation_p.E472K	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	472					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GCCGGCAGCTCTGCCAGGCGG	0.692000													45	3					0	0	1	0	0
IGLV2-14	28815	broad.mit.edu	37	22	23101700	23101700	+	RNA	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr22:23101700C>T	ENST00000390312.2	+	0	395																											GCAGCACTCTCCACAGTGGTC	0.582000													26	138					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038789	11038789	+	RNA	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr21:11038789C>T	ENST00000470054.1	-	0	1414									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTACCCATGCCAGTTTTTTG	0.418000													23	311					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195495930	195495930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:195495930G>A	ENST00000463781.3	-	7	13951	c.13492C>T	c.(13492-13494)Cag>Tag	p.Q4498*	MUC4_ENST00000349607.4_Nonsense_Mutation_p.Q211*|MUC4_ENST00000346145.4_Nonsense_Mutation_p.Q262*|MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q4446*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1255					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGAGCGCTGGGCCACGTCC	0.627000													20	26					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30500667	30500667	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:30500667G>A	ENST00000356798.6	+	11	1353	c.1173G>A	c.(1171-1173)ggG>ggA	p.G391G	ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.G308G|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	391					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CATTTATTGGGAATGAACCAT	0.542000													65	4					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124757664	124757664	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:124757664C>T	ENST00000306534.3	-	13	2506	c.2021G>A	c.(2020-2022)gGa>gAa	p.G674E	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.G529E	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	674					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACCTCTATTTCCTAACTCACA	0.577000													30	2					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119064809	119064809	+	Silent	SNP	A	A	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr4:119064809A>G	ENST00000296499.5	+	6	1912	c.1509A>G	c.(1507-1509)ggA>ggG	p.G503G	NDST3_ENST00000433996.2_Silent_p.G422G	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	503	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TCCAAGGAGGAGAACTTTTCT	0.423000													34	2					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57809031	57809031	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:57809031G>A	ENST00000281282.5	+	9	2535	c.2457G>A	c.(2455-2457)ggG>ggA	p.G819G		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	819						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACCAGGCGGGGACTGAAATGC	0.517000													25	18					0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48834826	48834826	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:48834826G>A	ENST00000376423.4	-	20	1747	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	GRIPAP1_ENST00000376441.1_Missense_Mutation_p.S651L|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.S620L|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.S606L	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	651						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GTTCATCTCTGAGAGAACCAG	0.582000													23	0					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239171671	239171671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:239171671G>A	ENST00000254657.3	-	10	1354	c.1075C>T	c.(1075-1077)Cag>Tag	p.Q359*	PER2_ENST00000440245.1_Nonsense_Mutation_p.Q359*|PER2_ENST00000355768.2_Intron|PER2_ENST00000254658.3_Intron	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	359	PAS 2.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		ATCAGGTCCTGAGGTAGGTAG	0.537000											OREG0015337	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	1					0	0	1	0	0
NFKBIL1	4795	broad.mit.edu	37	6	31525421	31525421	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr6:31525421C>T	ENST00000376148.4	+	3	465	c.351C>T	c.(349-351)ttC>ttT	p.F117F	NFKBIL1_ENST00000376145.4_Silent_p.F117F	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	117					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CCGATTTCTTCCTCCCGCTGC	0.582000													52	3					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345224	20345224	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:20345224C>T	ENST00000298642.2	+	1	834	c.798C>T	c.(796-798)ctC>ctT	p.L266L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCAGCTTTCTCACAGACAAGA	0.403000													14	45					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													5	39					0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145151092	145151092	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:145151092C>T	ENST00000318911.4	+	3	465	c.392C>T	c.(391-393)gCc>gTc	p.A131V		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	131	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACTTCGTGGCCTACCGCCAC	0.617000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	308	124					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44890925	44890925	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:44890925G>A	ENST00000261866.7	-	22	3812	c.3796C>T	c.(3796-3798)Ctc>Ttc	p.L1266F	SPG11_ENST00000427534.2_Missense_Mutation_p.L1266F|SPG11_ENST00000558319.1_Missense_Mutation_p.L1266F|SPG11_ENST00000535302.2_Missense_Mutation_p.L1266F	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1266					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTGAGCTTGAGGCTGTCAAGG	0.423000													31	55					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51673595	51673595	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:51673595C>T	ENST00000409535.1	+	12	2146	c.2021C>T	c.(2020-2022)tCg>tTg	p.S674L	RAD54L2_ENST00000296477.3_Missense_Mutation_p.S368L	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	674						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TTGGCTTCCTCGATGGGAGAG	0.542000													17	14					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30749952	30749952	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:30749952C>T	ENST00000262518.4	+	34	8976	c.8591C>T	c.(8590-8592)cCc>cTc	p.P2864L	SRCAP_ENST00000395059.2_Missense_Mutation_p.P2802L|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2706L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2864	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGGAGGCCCCCCAAGAAGAAC	0.617000													61	1					0	0	1	0	0
TRGV5	6978	broad.mit.edu	37	7	38389439	38389439	+	RNA	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:38389439G>A	ENST00000390344.2	-	0	184																											TTCCTCTCGGGGGCCTTGGAA	0.547000													10	50					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21069510	21069510	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:21069510C>T	ENST00000261383.3	-	27	3820	c.3821G>A	c.(3820-3822)cGa>cAa	p.R1274Q	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1274Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1274	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAGTGATTTCGAGGGACCTG	0.507000													29	2					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21078629	21078629	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:21078629C>T	ENST00000261383.3	-	24	3492	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K	DNAH3_ENST00000415178.1_Missense_Mutation_p.E1165K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1165	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCTTCTTCTCCAAGTAATCA	0.443000													47	4					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39435628	39435628	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:39435628G>A	ENST00000280481.7	+	15	7796	c.7580G>A	c.(7579-7581)cGc>cAc	p.R2527H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2527					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R2527H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCTAAATTGCGCTACACAGGC	0.463000													18	62					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347528	91347528	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:91347528C>T	ENST00000358859.2	-	1	1425	c.992G>A	c.(991-993)gGa>gAa	p.G331E	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		ctcctcctctccctcctccac	0.547000													44	4					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190068053	190068053	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:190068053C>T	ENST00000367462.3	-	8	1627	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.G364S	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		466						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGCATGTAGCCGGTGTTGCAG	0.597000													149	35					0	0	1	0	0
MTMR10	54893	broad.mit.edu	37	15	31234080	31234080	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:31234080C>T	ENST00000435680.1	-	16	2024	c.1927G>A	c.(1927-1929)Ggt>Agt	p.G643S	MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR|FAN1_ENST00000362065.4_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	643	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		AGAATAACACCGTGCAGGTTG	0.507000													58	77					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58007258	58007258	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:58007258G>A	ENST00000286494.4	+	4	904	c.444G>A	c.(442-444)gaG>gaA	p.E148E	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Silent_p.E187E	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	148					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AAGCCCCTGAGAGTGAGGAGG	0.527000													92	7					0	0	1	0	0
ZBTB5	9925	broad.mit.edu	37	9	37441866	37441866	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr9:37441866G>A	ENST00000307750.4	-	2	871	c.683C>T	c.(682-684)tCt>tTt	p.S228F		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CTCCTCCCGAGAATGAACCCC	0.493000													150	7					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61305285	61305285	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr18:61305285C>T	ENST00000341074.5	-	8	956	c.841G>A	c.(841-843)Gat>Aat	p.D281N	SERPINB4_ENST00000356424.6_Missense_Mutation_p.D229N	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AAGTGTAAATCGACACATGTC	0.403000													59	49					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114453658	114453658	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:114453658G>A	ENST00000375478.3	-	3	362	c.182C>T	c.(181-183)tCa>tTa	p.S61L	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TGGCTTTAATGATATCAGTGG	0.428000													32	109					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34192778	34192778	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:34192778G>A	ENST00000297161.2	+	16	2325	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	BMPER_ENST00000426693.1_Missense_Mutation_p.E651K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	651	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAACTGGAATGAAATTGGTCC	0.517000													159	129					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													4	122					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745833	140745833	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:140745833G>A	ENST00000518069.1	+	1	1936	c.1936G>A	c.(1936-1938)Gtc>Atc	p.V646I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGGCCGTCGAAGACCA	0.652000													4	178					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44740025	44740025	+	Missense_Mutation	SNP	T	T	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:44740025T>A	ENST00000313040.7	+	6	1647	c.1442T>A	c.(1441-1443)aTt>aAt	p.I481N	ZNF227_ENST00000391961.2_Missense_Mutation_p.I430N|ZNF227_ENST00000589005.1_Missense_Mutation_p.I430N	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GATCTGCATATTCATTTCAGA	0.448000													46	33					0	0	1	0	0
TPSB2	64499	broad.mit.edu	37	16	1278604	1278604	+	RNA	SNP	G	G	A	rs1060321		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:1278604G>A	ENST00000430512.2	-	0	922				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000339687.6_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				TTTTGAACAGGAGGGGCTGGC	0.617000													69	2					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	98					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773817	140773817	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:140773817C>T	ENST00000398604.2	+	1	1437	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACACGACCCCGACAGCCAGG	0.562000													27	2					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3613800	3613800	+	RNA	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:3613800C>T	ENST00000301749.7	-	0	1543				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGCCTTGCCCTTCTCCTGC	0.637000													35	43					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25433264	25433264	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:25433264C>T	ENST00000255324.5	+	26	3788	c.3736C>T	c.(3736-3738)Cgt>Tgt	p.R1246C	RNF17_ENST00000381921.1_Missense_Mutation_p.R1246C|RNF17_ENST00000339524.3_Missense_Mutation_p.R298C	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1246	Tudor 3.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCTGTGGTATCGTGGCAAGGT	0.393000													14	44					0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879168	209879168	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:209879168G>A	ENST00000367028.2	+	3	270	c.101G>A	c.(100-102)gGa>gAa	p.G34E	RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Missense_Mutation_p.G34E|HSD11B1_ENST00000367027.3_Missense_Mutation_p.G34E	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	34					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	ATGCTCCAAGGAAAGAAAGTG	0.517000													15	101					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160479976	160479976	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr6:160479976C>T	ENST00000356956.1	+	22	3085	c.2937C>T	c.(2935-2937)atC>atT	p.I979I		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	979					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GTGGGACCATCCTGGGAAAAC	0.498000													41	6					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	26					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481888	142481888	+	RNA	SNP	T	T	C	rs138077672	by1000genomes	TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:142481888T>C	ENST00000603901.1	+	0	567					NR_001296.3																						TGGGCTTCCTTGAGGGAGGCA	0.522000													4	84					0	0	1	0	0
HPCA	3208	broad.mit.edu	37	1	33354560	33354560	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:33354560G>A	ENST00000373467.3	+	2	163	c.61G>A	c.(61-63)Gag>Aag	p.E21K	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	21			E -> D (in dbSNP:rs11554958).				actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AGAGAACACAGAGTTCTCAGA	0.587000													88	18					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7026079	7026079	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr18:7026079G>A	ENST00000389658.3	-	17	2394	c.2301C>T	c.(2299-2301)gtC>gtT	p.V767V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	767	Laminin EGF-like 6.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTCACAGTGGACGCCGGTGG	0.557000													20	9					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57054643	57054643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr16:57054643C>T	ENST00000436936.1	+	3	244	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	NLRC5_ENST00000262510.6_Nonsense_Mutation_p.Q7*|NLRC5_ENST00000308149.7_Nonsense_Mutation_p.Q7*|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.Q7*			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	7					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)				CGTTGGCCTCCAGCTCGGCAA	0.582000													36	5					0	0	1	0	0
TSPAN7	7102	broad.mit.edu	37	X	38535027	38535027	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:38535027C>T	ENST00000378482.2	+	5	687	c.510C>T	c.(508-510)atC>atT	p.I170I	TSPAN7_ENST00000545599.1_Silent_p.I144I|TSPAN7_ENST00000422612.2_Silent_p.I196I|TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000286824.6_Silent_p.I187I|TM4SF2_ENST00000465127.1_Silent_p.I200I	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	170					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGCATGGCATCCCCCCCAGCT	0.498000													58	4					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71193335	71193335	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:71193335C>T	ENST00000260382.5	+	4	528	c.268C>T	c.(268-270)Ctt>Ttt	p.L90F	LRRC49_ENST00000443425.2_Missense_Mutation_p.L46F|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.L80F|LRRC49_ENST00000560369.1_Missense_Mutation_p.L95F|LRRC49_ENST00000560691.1_5'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	90						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGAGAAAATTCTTTACTCAGA	0.318000													20	31					0	0	1	0	0
NDNL2	56160	broad.mit.edu	37	15	29561214	29561214	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:29561214G>A	ENST00000332303.4	-	1	819	c.696C>T	c.(694-696)taC>taT	p.Y232Y	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	232	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGTATTCCAGGTAACGCTGTC	0.522000													68	54					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946336	16946336	+	RNA	SNP	G	G	A	rs11586784	by1000genomes	TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:16946336G>A	ENST00000412962.1	-	0	1183																											CAGGGCTCACGAACCTGCTGC	0.662000													4	25					0	0	1	0	0
GLE1	2733	broad.mit.edu	37	9	131289773	131289773	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr9:131289773C>T	ENST00000309971.4	+	9	1387	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	GLE1_ENST00000372770.4_Silent_p.T427T|GLE1_ENST00000494417.1_3'UTR|GLE1_ENST00000539582.1_Silent_p.T173T	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	427					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AGGCTGCTACCATCCCAGTGA	0.433000													19	5					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79940872	79940872	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:79940872G>A	ENST00000438737.2	-	7	1471	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	RBM26_ENST00000267229.7_Missense_Mutation_p.P344L|RBM26_ENST00000438724.1_Missense_Mutation_p.P344L			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	344	Pro-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGGGAGTCCAGGAGGAGGTGG	0.547000													20	53					0	0	1	0	0
TRGV3	6976	broad.mit.edu	37	7	38398594	38398594	+	RNA	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:38398594G>A	ENST00000390346.2	-	0	169																											TTCCTCTCGGGGGCCTTGGAA	0.537000													5	30					0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86915857	86915857	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr4:86915857G>A	ENST00000395184.1	+	9	1516	c.1050G>A	c.(1048-1050)caG>caA	p.Q350Q	ARHGAP24_ENST00000395183.2_Silent_p.Q255Q|ARHGAP24_ENST00000264343.4_Silent_p.Q257Q	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	350					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		ATGAAATTCAGAAGAAAGCCA	0.468000													127	14					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81251256	81251256	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:81251256G>A	ENST00000555265.1	-	15	2569	c.2194C>T	c.(2194-2196)Cat>Tat	p.H732Y	CEP128_ENST00000281129.3_Missense_Mutation_p.H732Y			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	732			H -> R (in dbSNP:rs327463).			centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTCCTGATATGATTCTCAGCC	0.373000													13	31					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71978208	71978208	+	Silent	SNP	G	G	A	rs151206916		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr12:71978208G>A	ENST00000266674.5	+	18	2729	c.2418G>A	c.(2416-2418)ctG>ctA	p.L806L	LGR5_ENST00000540815.2_Silent_p.L782L|LGR5_ENST00000536515.1_Silent_p.L734L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	806						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTATCCTTCTGGTGGTAGTCC	0.433000													59	6					0	0	1	0	0
FAM115A	9747	broad.mit.edu	37	7	143573381	143573381	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:143573381G>A	ENST00000479870.1	-	2	529	c.321C>T	c.(319-321)ggC>ggT	p.G107G	FAM115A_ENST00000355951.2_Silent_p.G107G|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	107										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					CCACTCCAGAGCCCTCGAGGA	0.537000													97	72					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94772502	94772502	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:94772502C>T	ENST00000341584.3	-	4	1084	c.938G>A	c.(937-939)gGa>gAa	p.G313E		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	313					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CAGCACATCTCCGAGGTCATA	0.527000													22	13					0	0	1	0	0
C3orf84	646498	broad.mit.edu	37	3	49215235	49215235	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:49215235G>T	ENST00000545770.2	-	4	535	c.449C>A	c.(448-450)tCc>tAc	p.S150Y	C3orf84_ENST00000432035.2_Missense_Mutation_p.S151Y|C3orf84_ENST00000443990.1_5'UTR	NM_001080528.2	NP_001073997.2			chromosome 3 open reading frame 84																		GCCACCCTGGGATGGGCAGCA	0.632000													8	16					0.00448238	0.00449737	1	1	0
LPAR4	2846	broad.mit.edu	37	X	78010772	78010772	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:78010772C>T	ENST00000435339.2	+	2	811	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	LPAR4_ENST00000373301.2_Missense_Mutation_p.R136C	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	136						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TAGTGTGGATCGTTTCCTGGC	0.483000													130	2					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101944593	101944593	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:101944593G>A	ENST00000251127.6	-	8	1005	c.924C>T	c.(922-924)ttC>ttT	p.F308F	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.F308F	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	308						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.F308L(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCCAGGCGAGGAAGAAAATGA	0.468000													13	29					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5642312	5642312	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr4:5642312C>T	ENST00000310917.2	-	10	1890	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	EVC2_ENST00000344408.5_Missense_Mutation_p.E467K|EVC2_ENST00000344938.1_Missense_Mutation_p.E467K	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	467						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TACTGGTTTTCCATCTTCTTT	0.453000													217	80					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36897386	36897386	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr22:36897386G>A	ENST00000397224.4	-	5	1211	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	FOXRED2_ENST00000216187.6_Missense_Mutation_p.S373F|FOXRED2_ENST00000397223.4_Missense_Mutation_p.S373F	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	373					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCTTCCTTTGGATTCGTAGCT	0.527000													8	63					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644566	20644566	+	RNA	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:20644566G>A	ENST00000428453.1	-	0	3187																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AAGGGAGACGGCCACCCACCT	0.622000													3	2					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621447	32621447	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:32621447C>T	ENST00000338921.4	+	13	1991	c.1474C>T	c.(1474-1476)Cca>Tca	p.P492S	NRG1_ENST00000287845.5_Missense_Mutation_p.P455S|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Missense_Mutation_p.P484S|NRG1_ENST00000287842.3_Missense_Mutation_p.P481S|NRG1_ENST00000519301.1_Missense_Mutation_p.P434S|NRG1_ENST00000356819.4_Missense_Mutation_p.P489S|NRG1_ENST00000405005.2_Missense_Mutation_p.P484S|NRG1_ENST00000539990.1_Missense_Mutation_p.P327S			Q02297	NRG1_HUMAN	neuregulin 1	484					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CGTGACACCACCAAGGCTGCG	0.572000													23	114					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102661500	102661500	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:102661500G>A	ENST00000315274.6	-	9	1301	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	412	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		ATCATTTTGGGATAACCTGGA	0.363000													55	8					0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145151093	145151093	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:145151093C>T	ENST00000318911.4	+	3	466	c.393C>T	c.(391-393)gcC>gcT	p.A131A		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	131	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACTTCGTGGCCTACCGCCACC	0.622000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	310	123					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773813	140773813	+	Missense_Mutation	SNP	A	A	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:140773813A>G	ENST00000398604.2	+	1	1433	c.1433A>G	c.(1432-1434)gAc>gGc	p.D478G	PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCACACGACCCCGACAGC	0.547000													23	1					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	361463	361463	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:361463G>A	ENST00000256509.2	+	3	646	c.4G>A	c.(4-6)Gag>Aag	p.E2K	CHL1_ENST00000397491.2_Missense_Mutation_p.E2K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	2					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAGAGCAATGGAGCCGCTTTT	0.373000													5	18					0	0	1	0	0
PSMA4	5685	broad.mit.edu	37	15	78841258	78841258	+	Missense_Mutation	SNP	A	A	G			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:78841258A>G	ENST00000044462.7	+	9	908	c.758A>G	c.(757-759)gAa>gGa	p.E253G	PSMA4_ENST00000559082.1_Missense_Mutation_p.E253G|PSMA4_ENST00000558281.1_3'UTR|PSMA4_ENST00000560217.1_Missense_Mutation_p.E222G|PSMA4_ENST00000558094.1_3'UTR|PSMA4_ENST00000558341.1_3'UTR|PSMA4_ENST00000413382.2_Missense_Mutation_p.E182G	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	253					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GAGAAGAAAGAAAAAGAACAG	0.368000													14	41					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47045856	47045856	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:47045856G>A	ENST00000450053.3	+	37	6350	c.6171G>A	c.(6169-6171)gaG>gaA	p.E2057E	NBEAL2_ENST00000383740.2_Silent_p.E336E|NBEAL2_ENST00000292309.5_Silent_p.E1873E	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2057	BEACH.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCCCCAGGAGATGCTGCGTG	0.652000													41	24					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83361376	83361376	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:83361376C>T	ENST00000262752.2	-	15	1369	c.1362G>A	c.(1360-1362)gtG>gtA	p.V454V	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Silent_p.V454V	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	454	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ACAATACCTTCACTGCAAATT	0.363000													24	0					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167272464	167272464	+	Missense_Mutation	SNP	A	A	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr3:167272464A>T	ENST00000453925.2	-	6	967	c.933T>A	c.(931-933)gaT>gaA	p.D311E	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000308378.3_Intron|WDR49_ENST00000476376.1_Intron			Q8IV35	WDR49_HUMAN	WD repeat domain 49	255										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATGAGGCATAATCATACCTCT	0.338000													37	33					0	0	1	0	0
FABP6	2172	broad.mit.edu	37	5	159626162	159626162	+	Missense_Mutation	SNP	C	C	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:159626162C>A	ENST00000393980.4	+	2	195	c.49C>A	c.(49-51)Cag>Aag	p.Q17K	FABP6_ENST00000393982.1_Missense_Mutation_p.Q17K|CTB-127C13.1_ENST00000501818.1_RNA	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	0					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCGCTGACTCAGGTAGctcc	0.577000											OREG0016998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	12					8.20599e-20	8.34507e-20	1	1	0
RNASEH2A	10535	broad.mit.edu	37	19	12920946	12920946	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:12920946C>T	ENST00000221486.4	+	5	567	c.473C>T	c.(472-474)cCc>cTc	p.P158L		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	158					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						CAAAGTTTTCCCGGGATTGAG	0.537000													63	34					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186692927	186692927	+	Splice_Site	SNP	G	G	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:186692927G>T	ENST00000343098.5	+	21	20784		c.e21+1		FSIP2_ENST00000424728.1_Splice_Site	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAGTGTTAAGGTAAGTATTTT	0.333000													40	5					8.20599e-20	8.34507e-20	1	1	0
UBXN11	91544	broad.mit.edu	37	1	26620817	26620817	+	Silent	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr1:26620817G>A	ENST00000374222.1	-	9	902	c.438C>T	c.(436-438)ttC>ttT	p.F146F	UBXN11_ENST00000374217.2_Silent_p.F113F|UBXN11_ENST00000436301.2_Silent_p.F71F|UBXN11_ENST00000535108.1_5'UTR|UBXN11_ENST00000374221.3_Silent_p.F146F|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000357089.4_Silent_p.F113F			Q5T124	UBX11_HUMAN	UBX domain protein 11	146						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						AGTCACTGAGGAACCGCTGTG	0.622000													59	27					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59225614	59225614	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr15:59225614G>A	ENST00000380516.2	-	1	238	c.151C>T	c.(151-153)Cga>Tga	p.R51*	SLTM_ENST00000536328.1_5'UTR|SLTM_ENST00000557950.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	51	SAP.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCTTGAGTCGGGAGATGAGC	0.642000													10	27					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45502766	45502766	+	Silent	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr21:45502766C>T	ENST00000291574.4	+	14	1996	c.1821C>T	c.(1819-1821)tgC>tgT	p.C607C		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	607					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GCGTTTTGTGCGTTGAGATAA	0.502000													21	221					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529439	5529439	+	Missense_Mutation	SNP	A	A	C			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr11:5529439A>C	ENST00000311659.4	-	2	1497	c.1350T>G	c.(1348-1350)gaT>gaG	p.D450E	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	450										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTGGCAGAATCTCCCAGCC	0.542000													57	2					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502305	20502305	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:20502305G>A	ENST00000315693.2	-	1	614	c.613C>T	c.(613-615)Ctc>Ttc	p.L205F		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGTGACAGGAGCCCACTGTCA	0.478000													24	29					0	0	1	0	0
AOC4P	90586	broad.mit.edu	37	17	41020498	41020498	+	RNA	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr17:41020498G>A	ENST00000585538.1	+	0	1337					NR_002773.1																						CCCATGGGGTGGACTGCCCCT	0.547000													20	1					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107433700	107433700	+	Missense_Mutation	SNP	G	G	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chrX:107433700G>T	ENST00000394872.2	-	20	1582	c.1351C>A	c.(1351-1353)Cac>Aac	p.H451N	COL4A6_ENST00000545689.1_Missense_Mutation_p.H450N|COL4A6_ENST00000538570.1_Missense_Mutation_p.H450N|COL4A6_ENST00000372216.4_Missense_Mutation_p.H451N|COL4A6_ENST00000334504.7_Missense_Mutation_p.H450N			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	451	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCTTTGTTGTGTAGAGTTTCA	0.428000									Alport syndrome with Diffuse Leiomyomatosis				73	3					6.20995e-33	6.40201e-33	1	1	0
ESRP1	54845	broad.mit.edu	37	8	95677189	95677189	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr8:95677189C>T	ENST00000433389.2	+	8	980	c.790C>T	c.(790-792)Cga>Tga	p.R264*	ESRP1_ENST00000454170.2_Nonsense_Mutation_p.R264*|ESRP1_ENST00000423620.2_Nonsense_Mutation_p.R264*|ESRP1_ENST00000358397.5_Nonsense_Mutation_p.R264*	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	264	RRM 1.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGCTCAGGGTCGAAGGAACGG	0.443000													142	68					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46602930	46602930	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:46602930C>T	ENST00000263734.3	+	8	1498	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	330	PAC.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTACAACCCTCGCAACCTGCA	0.607000													93	2					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416564	105416564	+	Missense_Mutation	SNP	G	G	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:105416564G>A	ENST00000333244.5	-	7	5343	c.5224C>T	c.(5224-5226)Ccc>Tcc	p.P1742S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1742						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCACCTTGGGGAGGTGCCCT	0.647000													54	126					0	0	1	0	0
B3GNT8	374907	broad.mit.edu	37	19	41931804	41931804	+	Missense_Mutation	SNP	C	C	T			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:41931804C>T	ENST00000321702.2	-	3	1333	c.880G>A	c.(880-882)Gag>Aag	p.E294K	CTC-435M10.6_ENST00000598887.1_RNA	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	294					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						AAGAAGGACTCGGGCACATAG	0.677000													11	31					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31215756	31215756	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr2:31215756C>A	ENST00000349752.5	-	2	886	c.247G>T	c.(247-249)Gag>Tag	p.E83*	GALNT14_ENST00000356174.3_Nonsense_Mutation_p.E83*|GALNT14_ENST00000420311.2_Nonsense_Mutation_p.E48*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.E63*|GALNT14_ENST00000324589.5_Intron	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	83						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CGCTCACTCTCCCGCTGGTTG	0.562000													129	5					3.21211e-60	3.35761e-60	1	1	0
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)ttt>t	p.CF23del		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537													10	245	---	---	---	---					
CARD11	84433	broad.mit.edu	37	7	2963941	2963943	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr7:2963941_2963943delGGA	ENST00000396946.4	-	15	2267_2269	c.1864_1866delTCC	c.(1864-1866)del	p.S622del		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	622					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGGATTGGTGGGAGGAGGAGGAG	0.616			Mis		DLBCL								7	195	---	---	---	---					
TRPM3	80036	broad.mit.edu	37	9	73213394	73213418	+	Frame_Shift_Del	DEL	GGAGACGGATATACCAGTAAATGAT	GGAGACGGATATACCAGTAAATGAT	-	rs148097532		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr9:73213394_73213418delGGAGACGGATATACCAGTAAATGAT	ENST00000377110.2	-	20	3172_3196	c.2929_2953delATCATTTACTGGTATATCCGTCTCC	c.(2929-2955)tafs	p.IIYWYIRLL977fs	TRPM3_ENST00000423814.3_Frame_Shift_Del_p.IIYWYIRLL1004fs|TRPM3_ENST00000377105.1_Frame_Shift_Del_p.IIYWYIRLL836fs|TRPM3_ENST00000408909.2_Frame_Shift_Del_p.IIYWYIRLL836fs|TRPM3_ENST00000358082.3_Frame_Shift_Del_p.IIYWYIRLL839fs|TRPM3_ENST00000396280.5_Frame_Shift_Del_p.IIYWYIRLL826fs|TRPM3_ENST00000377111.2_Frame_Shift_Del_p.IIYWYIRLL977fs|TRPM3_ENST00000357533.2_Frame_Shift_Del_p.IIYWYIRLL981fs|TRPM3_ENST00000396285.1_Frame_Shift_Del_p.IIYWYIRLL824fs|TRPM3_ENST00000360823.2_Frame_Shift_Del_p.IIYWYIRLL839fs|TRPM3_ENST00000396292.4_Frame_Shift_Del_p.IIYWYIRLL849fs|TRPM3_ENST00000377106.1_Frame_Shift_Del_p.IIYWYIRLL849fs	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1002						integral to membrane	calcium channel activity	p.I982I(1)|p.R987S(1)|p.R855S(1)|p.I854I(1)|p.R983S(1)|p.I986I(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAGATGTCTAGGAGACGGATATACCAGTAAATGATGTTCACGCAG	0.467													39	42	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48919328	48919329	+	Frame_Shift_Ins	INS	-	-	TGGA	rs66624868		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr13:48919328_48919329insTGGA	ENST00000267163.4	+	4	631_632	c.493_494insTGGA	c.(493-495)ggafs	p.G165fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	165					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTCAGCAAATTGGAAAGGTAA	0.287		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			13	5	---	---	---	---					
JAG2	3714	broad.mit.edu	37	14	105612178	105612178	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr14:105612178delC	ENST00000331782.3	-	23	3245	c.2842delG	c.(2842-2844)agfs	p.E948fs	JAG2_ENST00000347004.2_Frame_Shift_Del_p.E910fs	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	948					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCGCCGCACTCCCCCCAGGCC	0.687													2	4	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498059	18498060	+	RNA	INS	-	-	A	rs66528329		TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr17:18498059_18498060insA	ENST00000442583.1	-	0	898_899																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTAAGTTGTTCATCAGCAACAT	0.406													13	3	---	---	---	---					
KLF2	10365	broad.mit.edu	37	19	16436208	16436208	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:16436208delC	ENST00000248071.5	+	2	364	c.257delC	c.(256-258)gcfs	p.A86fs	KLF2_ENST00000592003.1_Intron	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor 2	86					positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						CCCTACAGCGCCCCCGCGGGT	0.796													2	4	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FW-A5DX-01A-11D-A27K-08	TCGA-FW-A5DX-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cddbac5-d6ce-4d22-bca1-576e53b630ab	07231680-60b4-4fe7-8bda-94265e521b8e	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gac>ga	p.ED710del	SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													7	94	---	---	---	---					
