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
TTN	7273	broad.mit.edu	37	2	179462331	179462331	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:179462331C>T	ENST00000589042.1	-	294	57702	c.57478G>A	c.(57478-57480)Gtc>Atc	p.V19160I	TTN_ENST00000460472.2_Missense_Mutation_p.V10095I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10287I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16592I|TTN_ENST00000359218.5_Missense_Mutation_p.V10220I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V17519I|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17519	Ig-like 108.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V10287I(1)|p.V16592I(1)|p.V16590I(1)|p.V10095I(1)|p.V10220I(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)			AGAGAATAGACGCCTTGATGG	0.398000													3	39					0	0	0.004672	0	0
BACH1	571	broad.mit.edu	37	21	30699117	30699117	+	Silent	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr21:30699117T>G	ENST00000399921.1	+	3	1215	c.972T>G	c.(970-972)tcT>tcG	p.S324S	BACH1_ENST00000286800.3_Silent_p.S324S	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	324						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S324S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						ATTCTTTGTCTCTTTTACACA	0.413000													10	266					0	0	0.008291	0	0
HTR2B	3357	broad.mit.edu	37	2	231978470	231978470	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:231978470T>G	ENST00000258400.3	-	3	1038	c.526A>C	c.(526-528)Att>Ctt	p.I176L	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	176					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	p.I176L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	ACCACTGTAATCTTGATGAAT	0.428000													14	202					0	0	0.004007	0	0
KIAA0556	23247	broad.mit.edu	37	16	27761348	27761348	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr16:27761348G>C	ENST00000261588.4	+	16	3086	c.3067G>C	c.(3067-3069)Gcc>Ccc	p.A1023P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1023								p.A1023P(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TATTTTACCAGCCTATGGGAA	0.532000													4	43					0	0	0.009096	0	0
OR6T1	219874	broad.mit.edu	37	11	123813872	123813872	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:123813872A>G	ENST00000321252.2	-	1	708	c.674T>C	c.(673-675)gTt>gCt	p.V225A		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V225A(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGCCCTGAGAACAGTGGCAAG	0.527000													6	47					0	0	0.001168	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103484016	103484016	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr13:103484016G>C	ENST00000602836.1	+	6	917	c.917G>C	c.(916-918)aGc>aCc	p.S306T	BIVM_ENST00000448849.2_Missense_Mutation_p.A106P|BIVM_ENST00000419638.1_Intron|BIVM_ENST00000257336.1_Missense_Mutation_p.A335P	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	p.A335P(1)									TGGCTTCGAAGCAACCCCTGT	0.378000													3	66					0	0	0.009096	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173825863	173825863	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:173825863A>G	ENST00000264111.6	+	8	789	c.602A>G	c.(601-603)aAg>aGg	p.K201R	RAPGEF4_ENST00000538974.1_Missense_Mutation_p.K31R|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.K49R|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.K58R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.K49R|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.K202R|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.K202R|RAPGEF4_ENST00000535187.1_5'UTR			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	202					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	p.K202R(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CCTTCAGAGAAGATCCTCAGA	0.413000													8	80					0	0	0.003080	0	0
PALD1	27143	broad.mit.edu	37	10	72292376	72292376	+	Splice_Site	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:72292376G>T	ENST00000263563.6	+	6	901		c.e6-1			NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.?(1)									CCTCCCTCTAGATCCACGACT	0.597000													4	70					0.00909568	0.00996512	0.009096	1	0
KCNA1	3736	broad.mit.edu	37	12	5020706	5020706	+	Silent	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr12:5020706C>A	ENST00000382545.3	+	2	1269	c.162C>A	c.(160-162)acC>acA	p.T54T	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	54					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.T54T(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGCTCAAGACCCTGGCGCAGT	0.637000													23	50					2.21704e-12	2.73007e-12	0.002780	1	0
DRG1	4733	broad.mit.edu	37	22	31816285	31816285	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr22:31816285G>A	ENST00000331457.4	+	5	617	c.456G>A	c.(454-456)ctG>ctA	p.L152L	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	152	G.				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	p.L152L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TGGATGTCCTGAAACCTTTGG	0.408000													8	107					0	0	0.003080	0	0
TRIM42	287015	broad.mit.edu	37	3	140397214	140397214	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:140397214G>A	ENST00000286349.3	+	1	334	c.143G>A	c.(142-144)cGg>cAg	p.R48Q		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	48	Cys-rich.					intracellular	zinc ion binding	p.R48Q(1)|p.R48L(1)		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						AAAGATGAGCGGAACTGCCAG	0.537000													10	158					0	0	0.008291	0	0
FBXO16	157574	broad.mit.edu	37	8	28304779	28304779	+	Missense_Mutation	SNP	C	C	G	rs149234031	byFrequency	TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:28304779C>G	ENST00000380254.2	-	7	900	c.752G>C	c.(751-753)aGa>aCa	p.R251T	FBXO16_ENST00000346498.2_Missense_Mutation_p.R239T|FBXO16_ENST00000518734.1_Missense_Mutation_p.R239T	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	251								p.R251T(1)		large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		CATTTGGTTTCTTTTTCTTCT	0.353000													29	79					0	0	0.008361	0	0
SACS	26278	broad.mit.edu	37	13	23906256	23906256	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr13:23906256C>G	ENST00000382298.3	-	10	12347	c.11759G>C	c.(11758-11760)aGc>aCc	p.S3920T	SACS_ENST00000402364.1_Missense_Mutation_p.S3170T|SACS_ENST00000382292.3_Missense_Mutation_p.S3920T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3920					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.S3773T(1)|p.S3920T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACTAAGATGCTTGACTTTAC	0.438000													9	147					0	0	0.004482	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54930865	54930865	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:54930865G>A	ENST00000474759.1	+	26	2384	c.2336G>A	c.(2335-2337)gGg>gAg	p.G779E	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G779E|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G779E|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G685E	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	779						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G779E(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)		CAGATTCCAGGGAGCTTCGTC	0.557000													4	93					0	0	0.009096	0	0
ABCC9	10060	broad.mit.edu	37	12	22015990	22015990	+	Splice_Site	SNP	T	T	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr12:22015990T>A	ENST00000261200.4	-	18	2237		c.e18-2		ABCC9_ENST00000345162.2_Splice_Site|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Splice_Site	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9						defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.?(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGTTCCTACTGAAAAATGAA	0.318000													4	44					0	0	0.009096	0	0
MAP4K1	11184	broad.mit.edu	37	19	39086328	39086328	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:39086328C>A	ENST00000591517.1	-	28	2249	c.2221G>T	c.(2221-2223)Gga>Tga	p.G741*	MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000589130.1_Nonsense_Mutation_p.G737*|MAP4K1_ENST00000396857.2_Nonsense_Mutation_p.G741*	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	741	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	p.G741*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTGCGAAGTCCCCGGACTGGG	0.592000													11	52					1.08611e-07	1.32648e-07	0.010729	1	0
QKI	9444	broad.mit.edu	37	6	163984654	163984654	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr6:163984654C>T	ENST00000361752.3	+	6	1388	c.837C>T	c.(835-837)ccC>ccT	p.P279P	QKI_ENST00000392127.2_Silent_p.P279P|QKI_ENST00000361195.2_Silent_p.P271P|QKI_ENST00000453779.2_Silent_p.P279P|QKI_ENST00000424802.3_Silent_p.P271P|QKI_ENST00000275262.7_Silent_p.P279P	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	279					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	p.P279P(2)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CTCCAGGGCCCGAAGCTGGTT	0.478000													15	64					0	0	0.002450	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40642597	40642597	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:40642597T>G	ENST00000343619.4	+	11	1239	c.1116T>G	c.(1114-1116)taT>taG	p.Y372*	ATP6V0A1_ENST00000537728.1_Nonsense_Mutation_p.Y329*|ATP6V0A1_ENST00000544137.1_Nonsense_Mutation_p.Y18*|ATP6V0A1_ENST00000393829.2_Nonsense_Mutation_p.Y372*|ATP6V0A1_ENST00000546249.1_Nonsense_Mutation_p.Y372*|ATP6V0A1_ENST00000264649.6_Nonsense_Mutation_p.Y379*|ATP6V0A1_ENST00000585525.1_Nonsense_Mutation_p.Y329*	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	372					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.Y372*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AGTTTACCTATGGCTTTCAGA	0.373000													13	122					0	0	0.001855	0	0
CPA2	1358	broad.mit.edu	37	7	129908841	129908841	+	Silent	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr7:129908841A>G	ENST00000222481.4	+	2	199	c.144A>G	c.(142-144)gaA>gaG	p.E48E		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	48					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	p.E46E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AGGCTCAAGAACATCTCCAGG	0.373000													4	62					0	0	0.009096	0	0
SCN11A	11280	broad.mit.edu	37	3	38945514	38945514	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:38945514G>T	ENST00000302328.3	-	12	1882	c.1684C>A	c.(1684-1686)Cag>Aag	p.Q562K	SCN11A_ENST00000444237.2_Missense_Mutation_p.Q562K|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q562K|SCN11A_ENST00000450244.1_Missense_Mutation_p.Q562K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	562					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q562K(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CACAGCCACTGGGGGCAACAG	0.502000													4	72					0.00024832	0.000280301	0.009096	1	0
UQCRH	7388	broad.mit.edu	37	1	46775859	46775859	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:46775859G>A	ENST00000311672.5	+	3	250	c.114G>A	c.(112-114)gaG>gaA	p.E38E		NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	38					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity	p.E38E(1)		large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					AGCAATGCGAGCAGTTGGAGA	0.468000													3	65					0	0	0.004672	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	59					0	0	0.000602	0	0
FBXO27	126433	broad.mit.edu	37	19	39516069	39516069	+	Silent	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:39516069C>G	ENST00000292853.4	-	6	953	c.834G>C	c.(832-834)gtG>gtC	p.V278V	FBXO27_ENST00000600828.1_Silent_p.V277V|FBXO27_ENST00000509137.2_Silent_p.V278V	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	278	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	p.V278V(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GACGGACTCGCACGATCACAC	0.587000													6	113					0	0	0.001168	0	0
PSG2	5670	broad.mit.edu	37	19	43585371	43585371	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:43585371G>T	ENST00000406487.1	-	2	190	c.92C>A	c.(91-93)cCc>cAc	p.P31H		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	31					cell migration|female pregnancy	extracellular region		p.P31H(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGCAGTGGTGGGCAGGTTCCA	0.498000													5	219					0.000157383	0.000180385	0.003080	1	0
DCHS1	8642	broad.mit.edu	37	11	6661191	6661191	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:6661191C>T	ENST00000299441.3	-	2	2065	c.1654G>A	c.(1654-1656)Gat>Aat	p.D552N		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	552	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D552N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCCACCATCTGTGGCCACC	0.547000													13	82					0	0	0.013537	0	0
ARL4C	10123	broad.mit.edu	37	2	235405159	235405159	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:235405159G>A	ENST00000390645.2	-	1	538	c.72C>T	c.(70-72)gcC>gcT	p.A24A	ARL4C_ENST00000339728.3_Silent_p.A24A	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	24					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity	p.A24A(1)		endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		TGGTCTTGCCGGCCGAGTCCA	0.597000													3	34					0	0	0.004672	0	0
SAMD4B	55095	broad.mit.edu	37	19	39866391	39866391	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:39866391G>C	ENST00000314471.6	+	7	1804	c.769G>C	c.(769-771)Ggg>Cgg	p.G257R	SAMD4B_ENST00000596368.1_Missense_Mutation_p.G257R|SAMD4B_ENST00000598913.1_Missense_Mutation_p.G257R	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	257							protein binding	p.G257R(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AGAGGAGCTTGGGGCCCGGGC	0.647000													30	151					0	0	0.010818	0	0
CUL2	8453	broad.mit.edu	37	10	35360158	35360158	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:35360158C>T	ENST00000374748.1	-	3	401	c.88G>A	c.(88-90)Gtc>Atc	p.V30I	CUL2_ENST00000537177.1_Missense_Mutation_p.V49I|CUL2_ENST00000374746.1_Missense_Mutation_p.V30I|CUL2_ENST00000374742.1_Missense_Mutation_p.V30I|CUL2_ENST00000602371.1_5'UTR|CUL2_ENST00000374749.3_Missense_Mutation_p.V30I|CUL2_ENST00000478044.1_5'UTR|CUL2_ENST00000374751.3_Missense_Mutation_p.V30I			Q13617	CUL2_HUMAN	cullin 2	30					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	p.V30I(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						GCTCTTTCGACGTATTCCAAC	0.358000													12	70					0	0	0.001855	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40652912	40652912	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:40652912T>C	ENST00000343619.4	+	16	1990	c.1867T>C	c.(1867-1869)Tct>Cct	p.S623P	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S580P|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.S269P|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S623P|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S623P|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S630P|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S580P	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	623					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.S623P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTACCCAGAGTCTGGTTATTC	0.438000													7	134					0	0	0.003080	0	0
DNAJB2	3300	broad.mit.edu	37	2	220147644	220147644	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:220147644G>A	ENST00000336576.5	+	6	726	c.438G>A	c.(436-438)ggG>ggA	p.G146G	DNAJB2_ENST00000392086.4_Silent_p.G146G|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	146					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	p.G146G(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTCCCTGGGCACTCCGGTA	0.562000													4	45					0	0	0.009096	0	0
ASCC3	10973	broad.mit.edu	37	6	100966000	100966000	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr6:100966000C>T	ENST00000369162.2	-	38	6138	c.5794G>A	c.(5794-5796)Gca>Aca	p.A1932T		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1932	SEC63 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.A1932T(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCCTGGTTTGCAGCCACGTCC	0.478000													4	43					0	0	0.000602	0	0
NRAS	4893	broad.mit.edu	37	1	115258745	115258745	+	Missense_Mutation	SNP	C	C	G	rs121434595		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:115258745C>G	ENST00000369535.4	-	2	290	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	13			G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G13R(76)|p.G13C(23)|p.G13S(5)|p.G13N(1)|p.G13Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCCAACACCACCTGCTCCA	0.498000	G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			9	97					0	0	0.006214	0	0
THOC1	9984	broad.mit.edu	37	18	252549	252549	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr18:252549G>C	ENST00000261600.6	-	9	674	c.667C>G	c.(667-669)Cca>Gca	p.P223A	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	223					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	p.P223A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CACGTTGTTGGAGCTTCCTCG	0.398000													12	100					0	0	0.003163	0	0
STARD8	9754	broad.mit.edu	37	X	67940175	67940175	+	Silent	SNP	A	A	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chrX:67940175A>C	ENST00000252336.6	+	7	2091	c.1719A>C	c.(1717-1719)ccA>ccC	p.P573P	STARD8_ENST00000374597.3_Silent_p.P573P|STARD8_ENST00000374599.3_Silent_p.P653P	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	573	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.P573P(4)|p.P653P(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TTGGGGTGCCACCCCTCATCC	0.577000													4	4					0	0	0.001168	0	0
PIK3C3	5289	broad.mit.edu	37	18	39584404	39584404	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr18:39584404C>T	ENST00000262039.4	+	10	1155	c.1069C>T	c.(1069-1071)Ccg>Tcg	p.P357S	PIK3C3_ENST00000398870.3_Missense_Mutation_p.P294S	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	357					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	p.P357S(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AAAATGGAAGCCGATGGATGT	0.463000										TSP Lung(28;0.18)			3	42					0	0	0.009096	0	0
TMEM131	23505	broad.mit.edu	37	2	98504542	98504542	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:98504542T>C	ENST00000186436.5	-	4	560	c.332A>G	c.(331-333)gAg>gGg	p.E111G	TMEM131_ENST00000425805.2_Missense_Mutation_p.E62G	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	111						integral to membrane		p.E111G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CATTGGTGGCTCAAATCGTAT	0.333000													3	32					0	0	0.004672	0	0
RNF20	56254	broad.mit.edu	37	9	104314697	104314697	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:104314697G>A	ENST00000389120.3	+	13	1653	c.1563G>A	c.(1561-1563)caG>caA	p.Q521Q		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	521					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q521Q(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCCTCCTGCAGTCCCAGTCTA	0.498000													9	234					0	0	0.006214	0	0
NEK5	341676	broad.mit.edu	37	13	52661488	52661488	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr13:52661488C>T	ENST00000355568.4	-	15	1517	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	460							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.E517K(2)|p.E460K(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TCCTTCATTTCGTTTTTCCTA	0.393000													21	74					0	0	0.002780	0	0
PYGO1	26108	broad.mit.edu	37	15	55841124	55841124	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr15:55841124C>T	ENST00000302000.6	-	2	213	c.119G>A	c.(118-120)cGc>cAc	p.R40H	PYGO1_ENST00000563719.1_Missense_Mutation_p.R40H	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	40					Wnt receptor signaling pathway	nucleus	zinc ion binding	p.R40H(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		ATTTGCCTTGCGCTTTTTCTT	0.368000													4	51					0	0	0.001168	0	0
IL23R	149233	broad.mit.edu	37	1	67666418	67666418	+	Splice_Site	SNP	A	A	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:67666418A>C	ENST00000347310.5	+	5	662		c.e5-1		C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Splice_Site	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor						inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	p.?(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTTTGTTTTAAGTTTAGAGAC	0.373000													5	75					0	0	0.001168	0	0
KIAA0368	23392	broad.mit.edu	37	9	114176711	114176711	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:114176711C>T	ENST00000259335.4	-	20	2518	c.2519G>A	c.(2518-2520)gGa>gAa	p.G840E	KIAA0368_ENST00000338205.5_Missense_Mutation_p.G662E	NM_001080398.1	NP_001073867.1			KIAA0368									p.G840E(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATTCCTACCTCCAACACCTGC	0.413000													7	64					0	0	0.003080	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167956	140167956	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:140167956T>A	ENST00000504120.2	+	1	2081	c.2081T>A	c.(2080-2082)gTg>gAg	p.V694E	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V694E	NM_018900.2	NP_061723.1												p.V694E(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCGCTGGTGGATGTCAAC	0.677000													4	86					0	0	0.000602	0	0
FBXO40	51725	broad.mit.edu	37	3	121341105	121341105	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:121341105G>A	ENST00000338040.4	+	3	1243	c.829G>A	c.(829-831)Gac>Aac	p.D277N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	277					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.D277N(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAAGCAGCAGGACGTTCGTAC	0.483000													6	42					0	0	0.001984	0	0
C11orf87	399947	broad.mit.edu	37	11	109294575	109294575	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:109294575C>T	ENST00000327419.6	+	2	619	c.216C>T	c.(214-216)ttC>ttT	p.F72F	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	72						integral to membrane		p.F72F(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCCTCATCTTCTGCCTCATCG	0.572000													8	71					0	0	0.003080	0	0
PTPRU	10076	broad.mit.edu	37	1	29651735	29651735	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:29651735C>T	ENST00000323874.8	+	30	4273	c.4163C>T	c.(4162-4164)gCc>gTc	p.A1388V	PTPRU_ENST00000373779.3_Missense_Mutation_p.A1382V|PTPRU_ENST00000356870.3_Missense_Mutation_p.A1388V|PTPRU_ENST00000428026.2_Missense_Mutation_p.A1379V|PTPRU_ENST00000460170.2_Missense_Mutation_p.A1386V|PTPRU_ENST00000345512.3_Missense_Mutation_p.A1392V			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1392	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.A1392V(1)|p.A1386V(1)|p.A1388V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACCTTCTGCGCCTGCGCCACG	0.577000													9	89					0	0	0.010729	0	0
DNAH5	1767	broad.mit.edu	37	5	13823473	13823473	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:13823473C>T	ENST00000265104.4	-	40	6690	c.6586G>A	c.(6586-6588)Gag>Aag	p.E2196K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2196					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E2196K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTTCATCCTCATCAATCTAA	0.368000									Kartagener syndrome				11	156					0	0	0.008291	0	0
SLC6A14	11254	broad.mit.edu	37	X	115573895	115573895	+	Silent	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chrX:115573895A>G	ENST00000371900.4	+	4	475	c.387A>G	c.(385-387)acA>acG	p.T129T		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	129					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T129T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TTTTTGTGACAATCTATTACA	0.303000													13	79					0	0	0.001855	0	0
HK1	3098	broad.mit.edu	37	10	71149006	71149006	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:71149006G>A	ENST00000448642.2	+	19	2483	c.2094G>A	c.(2092-2094)atG>atA	p.M698I	HK1_ENST00000298649.3_Missense_Mutation_p.M662I|HK1_ENST00000360289.2_Missense_Mutation_p.M651I|HK1_ENST00000404387.2_Missense_Mutation_p.M667I|HK1_ENST00000359426.6_Missense_Mutation_p.M663I			P19367	HXK1_HUMAN	hexokinase 1	663	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.M667I(1)|p.M662I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GCACCATGATGACCTGTGCTT	0.527000													3	15					0	0	0.004672	0	0
LRRC6	23639	broad.mit.edu	37	8	133584686	133584686	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:133584686G>T	ENST00000519595.1	-	12	1367	c.1269C>A	c.(1267-1269)caC>caA	p.H423Q	LRRC6_ENST00000250173.1_Missense_Mutation_p.H423Q|LRRC6_ENST00000518642.1_3'UTR			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	423						cytoplasm		p.H423Q(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGGGAATGAGTGCTTGCTAG	0.378000													8	208					0.00307968	0.00339905	0.003080	1	0
CHSY3	337876	broad.mit.edu	37	5	129520760	129520760	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:129520760A>G	ENST00000305031.4	+	3	2283	c.1925A>G	c.(1924-1926)gAa>gGa	p.E642G		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	642						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.E642G(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GAGAACTTTGAAAACATGTGT	0.403000													4	69					0	0	0.001168	0	0
TICRR	90381	broad.mit.edu	37	15	90167478	90167478	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr15:90167478A>T	ENST00000268138.7	+	20	4042	c.3937A>T	c.(3937-3939)Acc>Tcc	p.T1313S	TICRR_ENST00000560985.1_Missense_Mutation_p.T1312S|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator									p.T1313S(1)									GAAACTGTTTACCTCTCCTTT	0.433000													5	178					0	0	0.000602	0	0
GOLGA6C	653641	broad.mit.edu	37	15	75562495	75562495	+	Silent	SNP	G	G	T	rs138154232	by1000genomes	TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr15:75562495G>T	ENST00000300576.5	+	18	2037	c.2037G>T	c.(2035-2037)ccG>ccT	p.P679P		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	679										ovary(1)	1						ACAACCCCCCGGTACAGCAGA	0.602000													6	210					3.59834e-05	4.18869e-05	0.001168	1	0
NKTR	4820	broad.mit.edu	37	3	42680096	42680096	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:42680096C>T	ENST00000232978.8	+	13	3088	c.2900C>T	c.(2899-2901)tCg>tTg	p.S967L	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	967					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.S967L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGTTCCAATTCGGAAAACAAT	0.408000													5	70					0	0	0.000602	0	0
STIM1	6786	broad.mit.edu	37	11	3877560	3877560	+	Silent	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:3877560C>G	ENST00000300737.4	+	1	629	c.60C>G	c.(58-60)ggC>ggG	p.G20G	STIM1_ENST00000527651.1_Silent_p.G20G	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	20					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	p.G20G(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGCACCAGGGCCAGAGCCTCA	0.602000													3	63					0	0	0.004672	0	0
IYD	389434	broad.mit.edu	37	6	150713566	150713566	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr6:150713566C>G	ENST00000344419.3	+	3	596	c.456C>G	c.(454-456)atC>atG	p.I152M	IYD_ENST00000392256.2_Missense_Mutation_p.I152M|IYD_ENST00000425615.3_Missense_Mutation_p.I97M|IYD_ENST00000392255.3_Missense_Mutation_p.I152M|IYD_ENST00000500320.3_Missense_Mutation_p.I152M|IYD_ENST00000229447.5_Missense_Mutation_p.I152M	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	152					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		p.I152M(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TTCGAAAGATCATTGAGGAGG	0.522000													8	65					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9085813	9085813	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:9085813G>C	ENST00000397910.4	-	1	6205	c.6002C>G	c.(6001-6003)tCa>tGa	p.S2001*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2001	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S2001*(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATATGGAGTTGACTGTGTCTG	0.468000													9	70					0	0	0.004482	0	0
FLT4	2324	broad.mit.edu	37	5	180057288	180057288	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:180057288C>T	ENST00000261937.6	-	4	528	c.450G>A	c.(448-450)agG>agA	p.R150R	FLT4_ENST00000393347.3_Silent_p.R150R|FLT4_ENST00000502649.1_Silent_p.R150R|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	150					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.R150R(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCGTCCTTCCTGTTGACCA	0.632000													14	30					0	0	0.004007	0	0
HEMGN	55363	broad.mit.edu	37	9	100692795	100692795	+	Silent	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:100692795T>G	ENST00000259456.3	-	4	1025	c.882A>C	c.(880-882)acA>acC	p.T294T		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	294					cell differentiation|multicellular organismal development			p.T294T(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AAAGGCCTTCTGTCTCAGCTA	0.383000													7	219					0	0	0.003080	0	0
NLRP8	126205	broad.mit.edu	37	19	56467116	56467116	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:56467116C>T	ENST00000291971.3	+	3	1763	c.1692C>T	c.(1690-1692)aaC>aaT	p.N564N	NLRP8_ENST00000590542.1_Silent_p.N564N	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	564						cytoplasm	ATP binding	p.N564N(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTTTTCTGAACGAGGCCTGCG	0.473000													4	74					0	0	0.009096	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs142836124	by1000genomes	TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196																		p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000													5	56					0	0	0.001168	0	0
FGD3	89846	broad.mit.edu	37	9	95768370	95768370	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:95768370G>A	ENST00000375482.3	+	6	1241	c.745G>A	c.(745-747)Gag>Aag	p.E249K	FGD3_ENST00000416701.2_Missense_Mutation_p.E249K|FGD3_ENST00000337352.6_Missense_Mutation_p.E249K	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	249	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.E249K(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GATGTACGGCGAGTATGTCAA	0.557000													4	105					0	0	0.009096	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210428	30210428	+	RNA	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:30210428C>A	ENST00000518096.1	+	0	1040																											ATGATGGCTGCCTGTGACCCC	0.592000													4	45					0.00024832	0.000280301	0.009096	1	0
SPNS1	83985	broad.mit.edu	37	16	28993242	28993242	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr16:28993242C>T	ENST00000311008.11	+	7	1207	c.830C>T	c.(829-831)tCc>tTc	p.S277F	SPNS1_ENST00000565975.1_Missense_Mutation_p.S322F|SPNS1_ENST00000323081.8_Missense_Mutation_p.S204F|SPNS1_ENST00000561868.1_Intron|SPNS1_ENST00000334536.8_Intron|SPNS1_ENST00000352260.7_Intron|RP11-264B17.3_ENST00000569969.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	277					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	p.S277F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GTCCTGTCTTCCCTGGGCTTC	0.632000											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	77					0	0	0.000602	0	0
ADHFE1	137872	broad.mit.edu	37	8	67357557	67357557	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:67357557C>T	ENST00000396623.3	+	6	489	c.458C>T	c.(457-459)gCa>gTa	p.A153V	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.A153V|ADHFE1_ENST00000415254.1_Missense_Mutation_p.A105V	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	153					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	p.A153V(1)|p.A105V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AATCTGTATGCATCCAGCCCT	0.488000													10	142					0	0	0.008291	0	0
COL5A1	1289	broad.mit.edu	37	9	137619185	137619185	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:137619185A>T	ENST00000371817.3	+	5	1142	c.728A>T	c.(727-729)gAc>gTc	p.D243V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	243	Laminin G-like.|Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.D243V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TACAGCCCTGACTGTGACACC	0.532000													7	68					0	0	0.001984	0	0
CDCA5	113130	broad.mit.edu	37	11	64846850	64846850	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:64846850T>A	ENST00000275517.3	-	5	825	c.653A>T	c.(652-654)aAg>aTg	p.K218M	CDCA5_ENST00000404147.3_Missense_Mutation_p.K218M	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	218					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	p.K218M(1)		large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TTTCTTCTTCTTACGTTTCTG	0.567000													4	50					0	0	0.000602	0	0
TENM1	10178	broad.mit.edu	37	X	123556134	123556134	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chrX:123556134C>G	ENST00000422452.2	-	24	4522	c.4459G>C	c.(4459-4461)Gac>Cac	p.D1487H	TENM1_ENST00000371130.3_Missense_Mutation_p.D1480H|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.D1482H(1)									GAAAAACAGTCACAGTTTGGA	0.438000													9	46					0	0	0.004482	0	0
CASP4	837	broad.mit.edu	37	11	104825573	104825573	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:104825573G>A	ENST00000444739.2	-	2	1073	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	CASP4_ENST00000393150.3_5'UTR|CASP4_ENST00000531333.1_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	55	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.R55>?(1)|p.R55W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GCCATGACCCGAACTTTGTCT	0.388000													9	86					0	0	0.006214	0	0
ZFAT	57623	broad.mit.edu	37	8	135615035	135615035	+	Silent	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:135615035G>T	ENST00000520727.1	-	7	1190	c.891C>A	c.(889-891)gcC>gcA	p.A297A	ZFAT_ENST00000377838.3_Silent_p.A309A|ZFAT_ENST00000520214.1_Silent_p.A297A|ZFAT_ENST00000523399.1_Silent_p.A247A|ZFAT_ENST00000520356.1_Silent_p.A297A|ZFAT_ENST00000429442.2_Silent_p.A297A	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.A297A(1)|p.A309A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGGCCTTGATGGCACTGGCAT	0.562000													5	49					0.000602214	0.000669626	0.000602	1	0
EAPP	55837	broad.mit.edu	37	14	34985629	34985629	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr14:34985629C>G	ENST00000250454.3	-	6	826	c.745G>C	c.(745-747)Gat>Cat	p.D249H		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	249					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		p.D249H(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TCTTCCACATCTGTCTCTGCC	0.448000													9	195					0	0	0.008291	0	0
KIAA1109	84162	broad.mit.edu	37	4	123160717	123160717	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr4:123160717C>G	ENST00000264501.4	+	29	4253	c.3880C>G	c.(3880-3882)Cag>Gag	p.Q1294E	KIAA1109_ENST00000455637.1_Missense_Mutation_p.Q1294E|KIAA1109_ENST00000388738.3_Missense_Mutation_p.Q1294E|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1294					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.Q1294E(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCCTAATACTCAGGATAAGTC	0.403000													22	40					0	0	0.002780	0	0
TBC1D4	9882	broad.mit.edu	37	13	75936294	75936294	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr13:75936294G>A	ENST00000377636.3	-	2	1294	c.948C>T	c.(946-948)tgC>tgT	p.C316C	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.C316C|TBC1D4_ENST00000431480.2_Silent_p.C316C	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	316	PID 2.					cytoplasm	Rab GTPase activator activity	p.C316C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TGACACTGCTGCACCGAGACC	0.637000													5	46					0	0	0.001168	0	0
SPTA1	6708	broad.mit.edu	37	1	158613184	158613184	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:158613184G>C	ENST00000368147.4	-	31	4550	c.4370C>G	c.(4369-4371)gCt>gGt	p.A1457G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A1457G(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGGCTCTCAGCAAAATGTTC	0.468000													3	53					0	0	0.009096	0	0
CASP4	837	broad.mit.edu	37	11	104825572	104825572	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:104825572C>A	ENST00000444739.2	-	2	1074	c.164G>T	c.(163-165)cGg>cTg	p.R55L	CASP4_ENST00000393150.3_5'UTR|CASP4_ENST00000531333.1_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	55	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.R55>?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGCCATGACCCGAACTTTGTC	0.383000													9	87					7.48243e-07	8.91906e-07	0.006214	1	0
NUP188	23511	broad.mit.edu	37	9	131755675	131755675	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:131755675G>C	ENST00000372577.2	+	26	2861	c.2840G>C	c.(2839-2841)gGc>gCc	p.G947A		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	947					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.G947A(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGCAGTGATGGCTCAAAGGTA	0.522000													3	42					0	0	0.004672	0	0
ROBO1	6091	broad.mit.edu	37	3	78685192	78685192	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:78685192G>C	ENST00000436010.2	-	21	3984	c.2987C>G	c.(2986-2988)tCa>tGa	p.S996*	ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.S990*|ROBO1_ENST00000464233.1_Nonsense_Mutation_p.S1035*			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1035					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.S1035*(1)|p.S990*(1)|p.S1012*(1)|p.S1039*(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATAAACAGTTGACTCAGGGAG	0.378000													4	41					0	0	0.009096	0	0
SGK223	157285	broad.mit.edu	37	8	8185379	8185379	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:8185379G>A	ENST00000520004.1	-	5	3177	c.2913C>T	c.(2911-2913)ctC>ctT	p.L971L	SGK223_ENST00000330777.4_Silent_p.L971L			Q86YV5	SG223_HUMAN		971							ATP binding|non-membrane spanning protein tyrosine kinase activity	p.L973L(1)|p.L971L(1)									CGCCCATGAAGAGGTCCTCAC	0.562000													6	37					0	0	0.003080	0	0
CDH11	1009	broad.mit.edu	37	16	65016031	65016031	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr16:65016031T>G	ENST00000394156.3	-	8	1626	c.1173A>C	c.(1171-1173)gaA>gaC	p.E391D	CDH11_ENST00000566827.1_Missense_Mutation_p.E265D|CDH11_ENST00000268603.4_Missense_Mutation_p.E391D			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	391	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.E391D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTTCTTGGACTTCGTGGATGT	0.498000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			6	90					0	0	0.001984	0	0
RUSC1	23623	broad.mit.edu	37	1	155294949	155294949	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:155294949G>A	ENST00000368352.5	+	4	1664	c.1513G>A	c.(1513-1515)Gcc>Acc	p.A505T	RUSC1_ENST00000368347.4_Missense_Mutation_p.A95T|RUSC1_ENST00000292254.4_Missense_Mutation_p.A36T|RUSC1_ENST00000368349.4_Missense_Mutation_p.A36T|RUSC1_ENST00000368354.3_Missense_Mutation_p.A505T|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	505						cytoplasm|nucleolus	SH3/SH2 adaptor activity	p.A505T(1)|p.A36T(1)|p.A95T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TTTCGGGGCCGCCCGGAACTT	0.622000											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	146					0	0	0.014323	0	0
FKBP7	51661	broad.mit.edu	37	2	179343067	179343067	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:179343067C>T	ENST00000424785.2	-	1	218	c.160G>A	c.(160-162)Gac>Aac	p.D54N	FKBP7_ENST00000434643.2_Missense_Mutation_p.D54N|FKBP7_ENST00000464248.1_5'UTR	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	54	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.D54N(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTTAGTAGGTCTCCCTTCTTG	0.473000													8	78					0	0	0.006214	0	0
C10orf54	64115	broad.mit.edu	37	10	73521607	73521607	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:73521607G>A	ENST00000394957.3	-	2	317	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.2_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	87	Ig-like.					integral to membrane	receptor activity	p.R87W(1)		breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CGGATGGGCCGGCGCTCTGAG	0.652000													3	43					0	0	0.004672	0	0
MMRN1	22915	broad.mit.edu	37	4	90872768	90872768	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr4:90872768G>T	ENST00000394980.1	+	8	3450	c.3131G>T	c.(3130-3132)aGc>aTc	p.S1044I	MMRN1_ENST00000264790.2_Missense_Mutation_p.S1044I|MMRN1_ENST00000394981.1_Missense_Mutation_p.S347I|MMRN1_ENST00000508372.1_Missense_Mutation_p.S786I			Q13201	MMRN1_HUMAN	multimerin 1	1044	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.S1044I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAGTATTCAAGCTGTAGTCGG	0.428000													5	53					3.59834e-05	4.18869e-05	0.001168	1	0
FAM126A	84668	broad.mit.edu	37	7	23016375	23016375	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr7:23016375C>A	ENST00000432176.2	-	6	699	c.467G>T	c.(466-468)gGt>gTt	p.G156V	FAM126A_ENST00000409923.1_Missense_Mutation_p.G156V	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	156						cytoplasm|membrane	signal transducer activity	p.G156V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TTTTGACAAACCATGCTGGGA	0.418000													6	73					2.0095e-06	2.37631e-06	0.001984	1	0
BRCA1	672	broad.mit.edu	37	17	41244840	41244840	+	Missense_Mutation	SNP	C	C	G	rs80357717		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:41244840C>G	ENST00000309486.4	-	9	2847	c.1820G>C	c.(1819-1821)tGt>tCt	p.C607S	BRCA1_ENST00000493795.1_Missense_Mutation_p.C856S|BRCA1_ENST00000471181.2_Missense_Mutation_p.C903S|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.C903S|BRCA1_ENST00000354071.3_Missense_Mutation_p.C903S|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.C903S|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000491747.2_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	903					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.C903S(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTTTGTTCACATTCAAAAGT	0.403000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			12	96					0	0	0.010729	0	0
NEURL4	84461	broad.mit.edu	37	17	7226379	7226379	+	Silent	SNP	C	C	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:7226379C>A	ENST00000399464.2	-	15	2496	c.2481G>T	c.(2479-2481)gcG>gcT	p.A827A	NEURL4_ENST00000570460.1_Silent_p.A805A|NEURL4_ENST00000315614.7_Silent_p.A827A	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4									p.A827A(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGTGCCCAGCGCATCCAGGT	0.602000													7	39					8.12818e-05	9.38837e-05	0.001984	1	0
ITGA4	3676	broad.mit.edu	37	2	182387015	182387015	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:182387015A>G	ENST00000397033.2	+	18	2450	c.2020A>G	c.(2020-2022)Act>Gct	p.T674A		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	674					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.T674A(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATATGAAACGACTCTACATGT	0.363000													4	83					0	0	0.009096	0	0
IMPG2	50939	broad.mit.edu	37	3	100948226	100948226	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:100948226C>G	ENST00000193391.7	-	17	3818	c.3631G>C	c.(3631-3633)Gag>Cag	p.E1211Q		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1211	Hyaluronan-binding motif involved in chondroitin sulfate A- and C-binding motif (By similarity).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	p.E1211Q(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTCCCACCTCTCTGGAAAGC	0.532000													7	38					0	0	0.004482	0	0
SLC41A3	54946	broad.mit.edu	37	3	125735625	125735625	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:125735625T>G	ENST00000383598.2	-	6	1046	c.761A>C	c.(760-762)aAg>aCg	p.K254T	SLC41A3_ENST00000360370.4_Missense_Mutation_p.K280T|SLC41A3_ENST00000346785.5_Missense_Mutation_p.K244T|SLC41A3_ENST00000315891.6_Missense_Mutation_p.K280T|SLC41A3_ENST00000508835.1_Missense_Mutation_p.K163T	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	280						integral to membrane|plasma membrane	cation transmembrane transporter activity	p.K280T(1)|p.K254T(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CTTCAGGATCTTCACGATGGG	0.587000													3	57					0	0	0.009096	0	0
NRXN1	9378	broad.mit.edu	37	2	50724504	50724504	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:50724504C>G	ENST00000404971.1	-	15	4305	c.2966G>C	c.(2965-2967)gGa>gCa	p.G989A	NRXN1_ENST00000405472.3_Missense_Mutation_p.G941A|NRXN1_ENST00000406316.2_Missense_Mutation_p.G949A|NRXN1_ENST00000401669.2_Missense_Mutation_p.G949A|NRXN1_ENST00000406859.3_Missense_Mutation_p.G949A|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.G941A	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	949	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G989A(1)|p.G990A(1)|p.G949A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAAGTCATTTCCATCCCCACT	0.353000													5	63					0	0	0.000602	0	0
SOHLH2	54937	broad.mit.edu	37	13	36744906	36744906	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr13:36744906G>C	ENST00000379881.3	-	10	1107	c.1019C>G	c.(1018-1020)tCa>tGa	p.S340*	CCDC169-SOHLH2_ENST00000511166.1_Nonsense_Mutation_p.S417*|SOHLH2_ENST00000554962.1_Nonsense_Mutation_p.S417*	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2									p.S340*(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		AGCATTCTCTGAGGCGGAGCT	0.398000													5	95					0	0	0.001168	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267519	66267519	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:66267519G>A	ENST00000327268.4	-	6	946	c.782C>T	c.(781-783)cCg>cTg	p.P261L	SLC16A6_ENST00000580666.1_Missense_Mutation_p.P261L|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	261						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.P261L(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GTCGGCCTTCGGCTCCAGTTC	0.468000													4	96					0	0	0.009096	0	0
TTF1	7270	broad.mit.edu	37	9	135276961	135276961	+	Silent	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr9:135276961G>A	ENST00000334270.2	-	2	1287	c.1248C>T	c.(1246-1248)agC>agT	p.S416S		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	416					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	p.S416S(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CAAAGAGTGTGCTCTCAGAGT	0.463000													5	88					0	0	0.001168	0	0
SMC4	10051	broad.mit.edu	37	3	160146645	160146645	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:160146645G>C	ENST00000357388.3	+	18	3161	c.2710G>C	c.(2710-2712)Gac>Cac	p.D904H	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.D904H|SMC4_ENST00000462787.1_Missense_Mutation_p.D904H|SMC4_ENST00000469762.1_Missense_Mutation_p.D879H|SMC4_ENST00000344722.5_Missense_Mutation_p.D904H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	904					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	p.D904H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGCCCAACAAGACAAACTTGA	0.378000													6	90					0	0	0.001984	0	0
VPS13B	157680	broad.mit.edu	37	8	100844794	100844794	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr8:100844794C>G	ENST00000358544.2	+	52	9714	c.9603C>G	c.(9601-9603)agC>agG	p.S3201R	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.S3176R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3201					protein transport			p.S3201R(1)|p.S3176R(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTGCTGGAGCCTGCCAGCTA	0.502000													5	94					0	0	0.001168	0	0
SEC23IP	11196	broad.mit.edu	37	10	121677504	121677504	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:121677504G>C	ENST00000369075.3	+	9	1773	c.1701G>C	c.(1699-1701)atG>atC	p.M567I	SEC23IP_ENST00000543134.1_Missense_Mutation_p.M356I	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	567					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	p.M567I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CACTCTTTATGAGTCGGAACC	0.363000													10	82					0	0	0.010729	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74365122	74365122	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr15:74365122G>T	ENST00000290438.3	-	13	1502	c.1462C>A	c.(1462-1464)Cta>Ata	p.L488I		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	488								p.L488I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TGGGTCTCTAGCTGTTGGTTC	0.612000													7	55					7.48243e-07	8.91906e-07	0.006214	1	0
COIL	8161	broad.mit.edu	37	17	55027860	55027860	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:55027860G>A	ENST00000240316.4	-	2	777	c.743C>T	c.(742-744)tCg>tTg	p.S248L		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	248	2 X 4 AA repeats of A-R-N-S.|Ser/Thr-rich.					Cajal body|nucleolus	protein C-terminus binding	p.S248L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTCAGACTCCGAGGAGGAACT	0.428000													8	124					0	0	0.003080	0	0
REEP2	51308	broad.mit.edu	37	5	137780945	137780945	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:137780945G>A	ENST00000378339.2	+	6	638	c.446G>A	c.(445-447)cGc>cAc	p.R149H	REEP2_ENST00000506158.1_Missense_Mutation_p.R109H|REEP2_ENST00000254901.5_Missense_Mutation_p.R147H	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	147						integral to membrane		p.R147H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGAAGCTCCGCAGCTTCAGC	0.692000													5	56					0	0	0.000602	0	0
NCOR2	9612	broad.mit.edu	37	12	124816920	124816920	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr12:124816920C>G	ENST00000356219.3	-	44	7025	c.6870G>C	c.(6868-6870)aaG>aaC	p.K2290N	NCOR2_ENST00000404621.1_Missense_Mutation_p.K2273N|NCOR2_ENST00000405201.1_Missense_Mutation_p.K2283N|NCOR2_ENST00000429285.2_Missense_Mutation_p.K2273N|NCOR2_ENST00000404121.2_Missense_Mutation_p.K1844N|NCOR2_ENST00000397355.1_Missense_Mutation_p.K2274N	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2294					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.K2283N(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTCTTGCTTCTTGGACTTGA	0.587000											OREG0022237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	111					0	0	0.006214	0	0
SORCS1	114815	broad.mit.edu	37	10	108459108	108459108	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:108459108G>A	ENST00000263054.6	-	9	1284	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V	SORCS1_ENST00000344440.6_Missense_Mutation_p.A426V|SORCS1_ENST00000369698.1_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	426						integral to membrane	neuropeptide receptor activity|protein binding	p.A426V(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTCTTGGACCGCTGCGAACAC	0.478000													5	34					0	0	0.001168	0	0
ZNF282	8427	broad.mit.edu	37	7	148895707	148895707	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr7:148895707A>C	ENST00000262085.3	+	2	553	c.448A>C	c.(448-450)Aag>Cag	p.K150Q	ZNF282_ENST00000479907.1_Missense_Mutation_p.K150Q	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	150					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K150Q(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CATGGAGAGCAAGTGGGCCGT	0.622000													3	95					0	0	0.004672	0	0
C1orf158	93190	broad.mit.edu	37	1	12819342	12819342	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:12819342C>T	ENST00000288048.5	+	3	541	c.325C>T	c.(325-327)Ccg>Tcg	p.P109S	C1orf158_ENST00000376210.3_Missense_Mutation_p.P71S	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	109								p.P109S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTTACAACCCGGGGCTGCC	0.537000													17	182					0	0	0.006122	0	0
NRBP1	29959	broad.mit.edu	37	2	27664633	27664633	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr2:27664633C>T	ENST00000233557.3	+	19	2394	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	NRBP1_ENST00000379863.3_Missense_Mutation_p.A529V|NRBP1_ENST00000379852.3_Missense_Mutation_p.A521V			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	521					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	p.A521V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TTCAATTTTGCCAGGAACAGT	0.572000													4	221					0	0	0.009096	0	0
SEC63	11231	broad.mit.edu	37	6	108193031	108193031	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr6:108193031C>T	ENST00000369002.4	-	21	2339	c.2160G>A	c.(2158-2160)aaG>aaA	p.K720K		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	720					protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.K720K(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CTGGCACAGGCTTAGCCTCAT	0.418000													8	93					0	0	0.004482	0	0
EAPP	55837	broad.mit.edu	37	14	34985718	34985718	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr14:34985718C>G	ENST00000250454.3	-	6	737	c.656G>C	c.(655-657)aGa>aCa	p.R219T		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	219					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		p.R219T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		GGCTTTATATCTTAGAACCTC	0.388000													9	143					0	0	0.004482	0	0
EPRS	2058	broad.mit.edu	37	1	220195731	220195731	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr1:220195731C>T	ENST00000366923.3	-	9	1342	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	358	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	p.R358H(2)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AATTTTGCAGCGATAAAGGGT	0.383000													11	204					0	0	0.008291	0	0
SGOL1	151648	broad.mit.edu	37	3	20225210	20225210	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:20225210C>G	ENST00000412997.1	-	3	580	c.229G>C	c.(229-231)Gaa>Caa	p.E77Q	SGOL1_ENST00000421451.1_Missense_Mutation_p.E77Q|SGOL1_ENST00000419233.2_Missense_Mutation_p.E77Q|SGOL1_ENST00000425061.1_Missense_Mutation_p.E77Q|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412868.1_Missense_Mutation_p.E77Q|SGOL1_ENST00000442720.1_Missense_Mutation_p.E77Q|SGOL1_ENST00000437051.1_Missense_Mutation_p.E77Q|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000263753.4_Missense_Mutation_p.E77Q|SGOL1_ENST00000443724.1_Missense_Mutation_p.E77Q|SGOL1_ENST00000429446.3_Missense_Mutation_p.E77Q|SGOL1_ENST00000417364.1_Missense_Mutation_p.E77Q|SGOL1_ENST00000306698.2_Missense_Mutation_p.E77Q|SGOL1_ENST00000452020.1_Missense_Mutation_p.E77Q|SGOL1_ENST00000383774.1_Missense_Mutation_p.E77Q	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	77	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	p.E77Q(1)		kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TCTTGGGCTTCTTTCACTTTG	0.338000													14	105					0	0	0.001855	0	0
PPFIA3	8541	broad.mit.edu	37	19	49641521	49641521	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:49641521T>G	ENST00000334186.4	+	16	2262	c.1913T>G	c.(1912-1914)gTg>gGg	p.V638G	PPFIA3_ENST00000602351.1_Missense_Mutation_p.V638G	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	638						cell surface|cytoplasm	protein binding	p.V638G(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GAGAGTCGGGTGTCCAGCTCT	0.647000													4	22					0	0	0.003080	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655055	31655055	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr21:31655055C>T	ENST00000340345.4	-	1	221	c.196G>A	c.(196-198)Ggt>Agt	p.G66S		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	66						keratin filament	structural molecule activity	p.G66S(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGTGCTTCACCGTAGGATTCT	0.522000													6	84					0	0	0.001168	0	0
ZNF598	90850	broad.mit.edu	37	16	2052220	2052220	+	Silent	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr16:2052220C>T	ENST00000563630.1	-	5	959	c.717G>A	c.(715-717)tcG>tcA	p.S239S	ZNF598_ENST00000562103.1_Silent_p.S239S|ZNF598_ENST00000431526.1_Silent_p.S294S			Q86UK7	ZN598_HUMAN	zinc finger protein 598	294						intracellular	zinc ion binding	p.S294S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CGTTCCGGCGCGAGTGCCGTG	0.692000													4	15					0	0	0.009096	0	0
OR6S1	341799	broad.mit.edu	37	14	21109226	21109226	+	Missense_Mutation	SNP	C	C	G	rs150042729		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr14:21109226C>G	ENST00000320704.3	-	1	624	c.625G>C	c.(625-627)Gtc>Ctc	p.V209L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V209L(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GATACAATGACGAGGGAGGCC	0.572000													5	98					0	0	0.000602	0	0
ZNF99	7652	broad.mit.edu	37	19	22941848	22941848	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr19:22941848T>G	ENST00000397104.3	-	5	589	c.590A>C	c.(589-591)gAa>gCa	p.E197A	ZNF99_ENST00000596209.1_Missense_Mutation_p.E288A					zinc finger protein 99									p.E197A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCCACATTCTTCACATTTATA	0.363000													5	50					0	0	0.000602	0	0
OPCML	4978	broad.mit.edu	37	11	132306671	132306671	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:132306671G>A	ENST00000331898.7	-	5	1245	c.667C>T	c.(667-669)Cct>Tct	p.P223S	OPCML_ENST00000374778.4_Missense_Mutation_p.P182S|OPCML_ENST00000541867.1_Missense_Mutation_p.P223S|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.P216S	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	223	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.P216S(1)|p.P223S(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ATATAGGGAGGATCTGTGGGA	0.512000													3	20					0	0	0.004672	0	0
RNFT2	84900	broad.mit.edu	37	12	117274059	117274059	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr12:117274059T>C	ENST00000257575.4	+	10	1405	c.1172T>C	c.(1171-1173)tTc>tCc	p.F391S	RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000392549.2_Missense_Mutation_p.F391S|RNFT2_ENST00000551251.1_3'UTR|RNFT2_ENST00000407967.3_Missense_Mutation_p.F391S			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	391						integral to membrane	zinc ion binding	p.F391S(1)|p.F301S(1)		endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CAGGCCGAGTTCCGAGAGCCT	0.602000													3	6					0	0	0.004672	0	0
ECD	11319	broad.mit.edu	37	10	74896575	74896575	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr10:74896575C>T	ENST00000372979.4	-	13	1797	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	ECD_ENST00000454759.2_Missense_Mutation_p.E488K|ECD_ENST00000430082.2_Missense_Mutation_p.E564K	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	531					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	p.E531K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					GAAGCCTCTTCGCCAGGTTCG	0.448000													9	165					0	0	0.006214	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685222	125685222	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chrX:125685222T>G	ENST00000371126.1	-	1	1612	c.1370A>C	c.(1369-1371)aAc>aCc	p.N457T		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	457								p.N457T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCTGCATAGTTCCCATGGAG	0.542000													4	59					0	0	0.009096	0	0
DNAH5	1767	broad.mit.edu	37	5	13753535	13753535	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:13753535T>A	ENST00000265104.4	-	63	10783	c.10679A>T	c.(10678-10680)aAc>aTc	p.N3560I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3560					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.N3560I(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGATTTAGGTTCTTTCCAAA	0.378000									Kartagener syndrome				10	241					0	0	0.006214	0	0
DHX33	56919	broad.mit.edu	37	17	5365692	5365692	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr17:5365692C>G	ENST00000225296.3	-	3	825	c.625G>C	c.(625-627)Gtg>Ctg	p.V209L	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	209	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.V209L(1)		breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTTTCACCACTCCAAAGAGC	0.463000													4	56					0	0	0.009096	0	0
RASA1	5921	broad.mit.edu	37	5	86645099	86645099	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr5:86645099C>T	ENST00000456692.2	+	8	755	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	RASA1_ENST00000512763.1_Missense_Mutation_p.R224W|RASA1_ENST00000506290.1_Missense_Mutation_p.R225W|RASA1_ENST00000274376.6_Missense_Mutation_p.R391W	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	391	SH2 1.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	p.R214W(1)|p.R391W(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACTTTATTTCCGGACCAATGA	0.358000													4	54					0	0	0.000602	0	0
PRCP	5547	broad.mit.edu	37	11	82549509	82549509	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr11:82549509C>G	ENST00000313010.3	-	8	1388	c.1194G>C	c.(1192-1194)tgG>tgC	p.W398C	PRCP_ENST00000535099.1_Missense_Mutation_p.W293C|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Missense_Mutation_p.W419C	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	398					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	p.W398C(1)|p.W419C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GTCTCACACCCCACTGTTGAA	0.418000													11	31					0	0	0.010729	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	65					0	0	0.001168	0	0
CABS1	85438	broad.mit.edu	37	4	71200994	71200994	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr4:71200994G>C	ENST00000273936.5	+	1	312	c.238G>C	c.(238-240)Gat>Cat	p.D80H		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1							flagellum	calcium ion binding	p.D80H(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATCAGAAGATGATATGGGGAC	0.373000													5	71					0	0	0.000602	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92977602	92977602	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr15:92977602T>A	ENST00000268164.3	+	3	524	c.287T>A	c.(286-288)aTc>aAc	p.I96N	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.I75N	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	96					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.I96N(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TCTCTGAGGATCAGGTACTGG	0.453000													18	55					0	0	0.008871	0	0
HECW1	23072	broad.mit.edu	37	7	43508602	43508602	+	Silent	SNP	C	C	G			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr7:43508602C>G	ENST00000395891.2	+	16	3602	c.2997C>G	c.(2995-2997)cgC>cgG	p.R999R	HECW1_ENST00000453890.1_Silent_p.R965R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.R999R(1)|p.R978R(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATTTTGAACGCTACCAGCACA	0.542000													3	68					0	0	0.004672	0	0
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	5	---	---	---	---					
LOC153910	153910	broad.mit.edu	37	6	142860298	142860299	+	RNA	INS	-	-	T	rs143051118	by1000genomes	TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr6:142860298_142860299insT	ENST00000447311.1	-	0	364					NR_027312.1																						ttaggccagtatttttttttta	0.470													2	4	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64532708	64532709	+	RNA	INS	-	-	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr7:64532708_64532709insA	ENST00000426828.1	+	0	1228					NR_033416.1																						AAATGGGGACCAAAAAAAAAAA	0.351													2	4	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91726612	91726613	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr7:91726612_91726613insA	ENST00000359028.2	+	41	10576_10577	c.10351_10352insA	c.(10351-10353)gaafs	p.E3451fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.E3447fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.E3397fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3451					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCAGAAGCAAGAACTAGAACGA	0.376			T	BRAF	papillary thyroid								19	23	---	---	---	---					
TMEM184B	25829	broad.mit.edu	37	22	38626692	38626692	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20W-01A-21D-A14W-08	TCGA-BT-A20W-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ccdf9b-f787-4701-822f-ae0fce5b4fc5	824f6ffa-5c80-43aa-a9ca-3c6b1979e9c4	g.chr22:38626692delG	ENST00000361906.3	-	5	716	c.508delC	c.(508-510)ctgfs	p.L170fs	TMEM184B_ENST00000361684.4_Frame_Shift_Del_p.L170fs	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	170						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CAGAACCTCAGAAATCCGATG	0.607													7	13	---	---	---	---