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
RBBP8	5932	broad.mit.edu	37	18	20581688	20581688	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:20581688A>G	ENST00000399722.2	+	15	2634	c.2283A>G	c.(2281-2283)ctA>ctG	p.L761L	RBBP8_ENST00000360790.5_Silent_p.L766L|RBBP8_ENST00000399725.2_Silent_p.L761L|RBBP8_ENST00000327155.5_Silent_p.L761L	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	761					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CAAAGAAACTACACAGTAAGA	0.373000								Homologous recombination					8	16					0	0	0.003080	0	0
NASP	4678	broad.mit.edu	37	1	46073334	46073334	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:46073334C>A	ENST00000350030.3	+	6	838	c.751C>A	c.(751-753)Caa>Aaa	p.Q251K	NASP_ENST00000402363.3_Missense_Mutation_p.Q253K|NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.Q187K|NASP_ENST00000351223.3_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	251	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AACTGATGTCCAAGAAGAGTG	0.478000													3	16					2.56e-06	2.64951e-06	0.009096	1	0
SCN2A	6326	broad.mit.edu	37	2	166231239	166231239	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:166231239T>G	ENST00000375437.2	+	22	4307	c.4017T>G	c.(4015-4017)aaT>aaG	p.N1339K	SCN2A_ENST00000357398.3_Missense_Mutation_p.N1339K|SCN2A_ENST00000283256.6_Missense_Mutation_p.N1339K|SCN2A_ENST00000375427.2_Missense_Mutation_p.N1339K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1339					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CTATCATGAATGTACTTCTGG	0.363000													13	18					0	0	0.004007	0	0
CHD6	84181	broad.mit.edu	37	20	40049605	40049605	+	Silent	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:40049605T>A	ENST00000373233.3	-	31	5847	c.5670A>T	c.(5668-5670)gtA>gtT	p.V1890V		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1890					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGAGATGCAATACCTCTGGCC	0.483000													23	20					0	0	0.003954	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129564	99129564	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:99129564A>C	ENST00000394170.2	+	7	2463	c.2212A>C	c.(2212-2214)Act>Cct	p.T738P	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.T738P|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.T738P	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	738					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCATTACAGAACTCATACAGC	0.398000													30	32					0	0	0.003271	0	0
HTR2A	3356	broad.mit.edu	37	13	47409473	47409473	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:47409473G>A	ENST00000378688.4	-	3	1046	c.915C>T	c.(913-915)tcC>tcT	p.S305S	HTR2A_ENST00000543956.1_Silent_p.S221S|HTR2A_ENST00000542664.1_Silent_p.S305S			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	305					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGCCTGTGTAGGACCCTGGCT	0.522000													6	4					0	0	0.001168	0	0
WIF1	11197	broad.mit.edu	37	12	65514281	65514281	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:65514281A>G	ENST00000286574.4	-	2	578	c.204T>C	c.(202-204)caT>caC	p.H68H		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	68	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TTCTGAAATCATGTGTAAAAG	0.378000			T	HMGA2	pleomorphic salivary gland adenoma								20	19					0	0	0.004656	0	0
BRI3BP	140707	broad.mit.edu	37	12	125497182	125497182	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:125497182G>A	ENST00000341446.8	+	2	407	c.316G>A	c.(316-318)Gtc>Atc	p.V106I		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	106						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TGGACTTGACGGTAGGTGTAG	0.488000													25	112					0	0	0.009535	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590169	125590169	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:125590169G>C	ENST00000504087.1	-	4	5300	c.4263C>G	c.(4261-4263)ttC>ttG	p.F1421L	ANKRD50_ENST00000515641.1_Missense_Mutation_p.F1242L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1421										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTATAGTTGAAGCTAGGGT	0.383000													4	4					0	0	0.009096	0	0
ESPNP	284729	broad.mit.edu	37	1	17026395	17026395	+	RNA	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:17026395C>G	ENST00000492551.1	-	0	1290					NR_026567.1																						ACCAGCGTCTCGCCGGGGCAG	0.786000													4	6					0	0	0.000602	0	0
TNFSF10	8743	broad.mit.edu	37	3	172227013	172227013	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:172227013A>G	ENST00000241261.2	-	4	534	c.412T>C	c.(412-414)Tct>Cct	p.S138P	TNFSF10_ENST00000420541.2_Intron	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	138					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TTACTTGGAGAAGACAATGTG	0.358000													5	28					0	0	0.001984	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519130	113519130	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:113519130T>G	ENST00000284601.3	-	4	2085	c.2017A>C	c.(2017-2019)Aca>Cca	p.T673P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	673					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATATGCTCTGTTATGTTTGTC	0.378000													43	49					0	0	0.014410	0	0
FRYL	285527	broad.mit.edu	37	4	48577219	48577219	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:48577219T>C	ENST00000358350.4	-	25	3365	c.2761A>G	c.(2761-2763)Ata>Gta	p.I921V	FRYL_ENST00000507711.1_Missense_Mutation_p.I921V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.I921V|FRYL_ENST00000537810.1_Missense_Mutation_p.I921V	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	921					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATTGGAACTATGTGCTTAAAC	0.398000													5	28					0	0	0.000602	0	0
MFSD11	79157	broad.mit.edu	37	17	74737129	74737129	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:74737129C>G	ENST00000588460.1	+	3	2285	c.243C>G	c.(241-243)gcC>gcG	p.A81A	MFSD11_ENST00000590514.1_Silent_p.A81A|MFSD11_ENST00000336509.4_Silent_p.A81A|MFSD11_ENST00000593181.1_Silent_p.A81A|MFSD11_ENST00000355954.3_Silent_p.A81A|MFSD11_ENST00000586622.1_Silent_p.A81A	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	81						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CTATGTTTGCCAGTGGTTTAT	0.363000													26	41					0	0	0.005443	0	0
CARS	833	broad.mit.edu	37	11	3026647	3026647	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:3026647C>T	ENST00000397114.3	-	20	2263	c.1887G>A	c.(1885-1887)gtG>gtA	p.V629V	CARS_ENST00000401769.3_Silent_p.V652V|CARS_ENST00000397111.5_Silent_p.V639V|CARS_ENST00000278224.9_Silent_p.V639V|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000380525.4_Silent_p.V722V			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	639					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTACCAGTTTCACCACTGTGG	0.493000			T	ALK	ALCL								30	39					0	0	0.003755	0	0
MAST2	23139	broad.mit.edu	37	1	46501315	46501315	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:46501315G>C	ENST00000361297.2	+	29	5257	c.4974G>C	c.(4972-4974)tgG>tgC	p.W1658C	MAST2_ENST00000372009.2_Missense_Mutation_p.W1468C	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1658					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGTGGTCCTGGAAATCCCTTA	0.572000													18	49					0	0	0.014323	0	0
PPCDC	60490	broad.mit.edu	37	15	75336745	75336745	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:75336745G>A	ENST00000342932.3	+	4	394	c.250G>A	c.(250-252)Gac>Aac	p.D84N	PPCDC_ENST00000567336.1_Missense_Mutation_p.D52N|PPCDC_ENST00000564923.1_Intron|PPCDC_ENST00000563393.1_5'UTR|PPCDC_ENST00000568649.1_Intron	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	84					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity			breast(1)|cervix(1)	2						GAGCCGCTCTGACCCAGTTCT	0.587000													44	36					0	0	0.014410	0	0
CREBBP	1387	broad.mit.edu	37	16	3900861	3900861	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:3900861C>T	ENST00000262367.5	-	2	1044	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	CREBBP_ENST00000382070.3_Missense_Mutation_p.G79S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	79					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATACTAGAGCCGCTGCCTCCT	0.542000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						21	62					0	0	0.014323	0	0
PRDM9	56979	broad.mit.edu	37	5	23527083	23527083	+	Missense_Mutation	SNP	G	G	C	rs112192848		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:23527083G>C	ENST00000296682.3	+	11	2068	c.1886G>C	c.(1885-1887)aGa>aCa	p.R629T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	629					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACCAGAGGAGACACACAGGG	0.612000										HNSCC(3;0.000094)			5	181					0	0	0.000602	0	0
KATNB1	10300	broad.mit.edu	37	16	57786831	57786831	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:57786831T>C	ENST00000379661.3	+	10	1238	c.846T>C	c.(844-846)aaT>aaC	p.N282N		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	282	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CCATCTGCAATGACCAGTTGG	0.667000													21	58					0	0	0.007291	0	0
LRP1	4035	broad.mit.edu	37	12	57598266	57598266	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:57598266C>T	ENST00000243077.3	+	71	11491	c.11025C>T	c.(11023-11025)ggC>ggT	p.G3675G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3675	LDL-receptor class A 29.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGTGCGATGGCGAGGATGACT	0.632000													30	107					0	0	0.013726	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36277976	36277976	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:36277976C>T	ENST00000258840.6	-	1	456	c.66G>A	c.(64-66)aaG>aaA	p.K22K	RALGAPA1_ENST00000307138.6_Silent_p.K22K|RALGAPA1_ENST00000389698.3_Silent_p.K22K|RALGAPA1_ENST00000382366.3_Silent_p.K22K	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	22					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCAGTGCGTCCTTCTTGGTGT	0.642000													28	25					0	0	0.004289	0	0
DMWD	1762	broad.mit.edu	37	19	46290118	46290118	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:46290118G>T	ENST00000270223.6	-	3	681	c.636C>A	c.(634-636)gaC>gaA	p.D212E	DMWD_ENST00000601370.1_5'UTR|DMWD_ENST00000377735.3_Missense_Mutation_p.D212E	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	212					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CCTTGGTCTTGTCGATCAACC	0.582000													14	32					1.5842e-08	1.65893e-08	0.001855	1	0
NPHP3	27031	broad.mit.edu	37	3	132408036	132408036	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:132408036T>A	ENST00000337331.5	-	20	2851	c.2765A>T	c.(2764-2766)tAc>tTc	p.Y922F	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	922					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAATCGAAGTATTCTGTTGC	0.408000													38	30					0	0	0.010771	0	0
SCFD2	152579	broad.mit.edu	37	4	54232001	54232001	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:54232001C>A	ENST00000401642.3	-	1	241	c.108G>T	c.(106-108)ctG>ctT	p.L36L	SCFD2_ENST00000388940.4_Silent_p.L36L	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	36					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGCCCCAGTGCAGGCTCTCGG	0.652000													67	64					1.43161e-34	1.64672e-34	0.014410	1	0
HIPK1	204851	broad.mit.edu	37	1	114512680	114512680	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:114512680G>A	ENST00000369558.1	+	14	3106	c.2874G>A	c.(2872-2874)ctG>ctA	p.L958L	HIPK1_ENST00000369561.4_Silent_p.L924L|HIPK1_ENST00000369554.2_Silent_p.L913L|HIPK1_ENST00000426820.2_Silent_p.L958L|HIPK1_ENST00000369553.1_Silent_p.L564L|HIPK1_ENST00000369559.4_Silent_p.L958L|HIPK1_ENST00000340480.4_Silent_p.L584L|HIPK1_ENST00000406344.1_Silent_p.L564L|HIPK1_ENST00000369555.2_Silent_p.L913L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	958	Interaction with TP53.|Required for localization to nuclear speckles (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGATACCCTGAGTGCTCTCC	0.507000													49	103					0	0	0.014410	0	0
ZNF485	220992	broad.mit.edu	37	10	44112556	44112556	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:44112556G>A	ENST00000361807.3	+	5	1259	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q	ZNF485_ENST00000374435.3_Silent_p.Q355Q|ZNF485_ENST00000374437.2_Silent_p.Q264Q	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AACCGTATCAGTGTCGTGACT	0.428000													17	69					0	0	0.008871	0	0
GREB1	9687	broad.mit.edu	37	2	11758611	11758611	+	Missense_Mutation	SNP	C	C	T	rs71446422		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:11758611C>T	ENST00000381486.2	+	22	3910	c.3610C>T	c.(3610-3612)Ctc>Ttc	p.L1204F	GREB1_ENST00000234142.5_Missense_Mutation_p.L1204F|GREB1_ENST00000396123.1_Missense_Mutation_p.L202F	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1204	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGACTGTAGCCTCAGGACCGG	0.701000													20	19					0	0	0.012319	0	0
LAMA3	3909	broad.mit.edu	37	18	21485588	21485588	+	Splice_Site	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:21485588G>T	ENST00000313654.9	+	52	6959	c.6718G>T	c.(6718-6720)Gaa>Taa	p.E2240*	LAMA3_ENST00000269217.6_Splice_Site_p.E631*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Splice_Site_p.E575*|LAMA3_ENST00000399516.3_Splice_Site_p.E2184*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2240	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTAAAGCAAGGTATTAGGGG	0.438000													3	19					0.00909568	0.00924138	0.009096	1	0
LRP1	4035	broad.mit.edu	37	12	57572754	57572754	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:57572754G>T	ENST00000243077.3	+	28	5154	c.4688G>T	c.(4687-4689)tGc>tTc	p.C1563F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1563	EGF-like 7.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCGTGTCCTGCGCCTGCCCC	0.632000													87	119					1.39691e-52	1.64517e-52	0.014410	1	0
HPS3	84343	broad.mit.edu	37	3	148889891	148889891	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:148889891C>G	ENST00000296051.2	+	17	3037	c.2897C>G	c.(2896-2898)tCa>tGa	p.S966*	HPS3_ENST00000460120.1_Nonsense_Mutation_p.S801*	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	966						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAAACATTGTCAATTGTTGCT	0.358000									Hermansky-Pudlak syndrome				22	14					0	0	0.003330	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068609	103068609	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:103068609A>G	ENST00000264260.2	+	12	2357	c.1768A>G	c.(1768-1770)Act>Gct	p.T590A	IL18RAP_ENST00000409369.1_Missense_Mutation_p.T448A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	590					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AACAGAAACCACTGGGAGGAG	0.512000													11	33					0	0	0.002450	0	0
SCN4A	6329	broad.mit.edu	37	17	62021113	62021113	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:62021113C>T	ENST00000578147.1	-	22	4086	c.4010G>A	c.(4009-4011)cGg>cAg	p.R1337Q	SCN4A_ENST00000435607.1_Missense_Mutation_p.R1337Q			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1337					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TACCTGGGGCCGGGGAATTGG	0.552000													4	13					0	0	0.001168	0	0
HRASLS5	117245	broad.mit.edu	37	11	63233662	63233662	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:63233662T>C	ENST00000540857.1	-	5	769	c.637A>G	c.(637-639)Atc>Gtc	p.I213V	HRASLS5_ENST00000301790.4_Missense_Mutation_p.I223V|HRASLS5_ENST00000539221.1_Missense_Mutation_p.I223V	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	223										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TACTGCACGATCTTGTTGACC	0.527000													17	46					0	0	0.006122	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101228	27101228	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:27101228G>A	ENST00000359193.2	+	1	397	c.378G>A	c.(376-378)aaG>aaA	p.K126K		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	126					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						GCCACCACAAGGCGAAGGGCA	0.522000													32	61					0	0	0.004289	0	0
EDEM2	55741	broad.mit.edu	37	20	33735053	33735053	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:33735053G>A	ENST00000374492.3	-	1	114	c.9C>T	c.(7-9)ttC>ttT	p.F3F	EDEM2_ENST00000374491.3_Silent_p.F3F|EDEM2_ENST00000540582.1_Intron|EDEM2_ENST00000542871.1_5'UTR	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	3					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGAGCAGCCGGAAAGGCATAG	0.677000													49	34					0	0	0.014410	0	0
RPS7	6201	broad.mit.edu	37	2	3623453	3623453	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:3623453G>A	ENST00000407445.3	+	3	169	c.122G>A	c.(121-123)aGg>aAg	p.R41K	RPS7_ENST00000406376.1_Missense_Mutation_p.R41K|RPS7_ENST00000403564.1_Missense_Mutation_p.R41K|RPS7_ENST00000304921.5_Missense_Mutation_p.R41K			P62081	RS7_HUMAN	ribosomal protein S7	41					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		GCTCAGCTCAGGGAGCTGAAT	0.637000													7	17					0	0	0.006214	0	0
JUNB	3726	broad.mit.edu	37	19	12903008	12903008	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:12903008A>C	ENST00000302754.4	+	1	699	c.423A>C	c.(421-423)aaA>aaC	p.K141N		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	141						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						GCTTTGTCAAAGCCCTGGACG	0.711000													6	13					0	0	0.001168	0	0
SYT2	127833	broad.mit.edu	37	1	202569525	202569525	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:202569525C>T	ENST00000367267.1	-	7	1071	c.879G>A	c.(877-879)gaG>gaA	p.E293E	SYT2_ENST00000367268.4_Silent_p.E293E	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	293	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GGTTCTTAGCCTCCAGGATGC	0.617000											OREG0014101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	55					0	0	0.014410	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499615	104499615	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:104499615A>G	ENST00000361820.3	-	1	1247	c.647T>C	c.(646-648)cTg>cCg	p.L216P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	216					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TGGAATGTGCAGGACTAAGCT	0.627000													38	110					0	0	0.014410	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12251945	12251945	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:12251945G>A	ENST00000376259.3	+	4	511	c.422G>A	c.(421-423)cGc>cAc	p.R141H	TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.R141H	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	141				R -> P (in Ref. 15; AAA63262).	apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GCGCCGCTGCGCAAGTGCCGC	0.687000													69	59					0	0	0.014410	0	0
TFF1	7031	broad.mit.edu	37	21	43786556	43786556	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr21:43786556T>C	ENST00000291527.2	-	1	147	c.49A>G	c.(49-51)Atg>Gtg	p.M17V		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	17					carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						AGGGCCAGCATGGACACCAGG	0.667000													20	46					0	0	0.003330	0	0
ERCC2	2068	broad.mit.edu	37	19	45867687	45867687	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:45867687T>C	ENST00000391945.4	-	8	790	c.713A>G	c.(712-714)aAc>aGc	p.N238S	ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S|ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	238	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.N238S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCAATGTTGTGGGCCTC	0.637000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				15	39					0	0	0.003163	0	0
DHRS4L1	728635	broad.mit.edu	37	14	24518021	24518021	+	RNA	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:24518021G>C	ENST00000558293.1	+	0	668					NR_102693.1																						CAGCAGGATGGTGAGGAAGGG	0.547000													17	109					0	0	0.006320	0	0
SUPT16H	11198	broad.mit.edu	37	14	21834657	21834657	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:21834657G>T	ENST00000216297.2	-	8	1325	c.987C>A	c.(985-987)gtC>gtA	p.V329V		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	329					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	p.V329V(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CCACGTCCATGACAGCGTTAT	0.348000													12	85					4.7546e-09	4.99065e-09	0.004007	1	0
C9orf152	401546	broad.mit.edu	37	9	112963549	112963549	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:112963549G>T	ENST00000400613.4	-	2	1008	c.399C>A	c.(397-399)gaC>gaA	p.D133E	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	133										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GATGACTGGTGTCCTGGGGGG	0.557000													31	129					2.51541e-25	2.84909e-25	0.004878	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65203599	65203599	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:65203599C>G	ENST00000247226.7	+	11	1514	c.1206C>G	c.(1204-1206)ctC>ctG	p.L402L	PLEKHG3_ENST00000394691.1_Silent_p.L458L	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	458					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TCAGGCAACTCAACGAGAAAG	0.617000													27	84					0	0	0.013726	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74835181	74835181	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:74835181G>A	ENST00000370895.1	+	18	1917	c.1882G>A	c.(1882-1884)Gct>Act	p.A628T	FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A628T|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.A641T|TNNI3K_ENST00000370891.2_Missense_Mutation_p.A628T|TNNI3K_ENST00000326637.3_Missense_Mutation_p.A527T			Q59H18	TNI3K_HUMAN		527	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										GTTTGTGGGTGCTTGCTTGAA	0.478000													26	61					0	0	0.010818	0	0
ANKRD28	23243	broad.mit.edu	37	3	15727600	15727600	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:15727600T>G	ENST00000399451.2	-	20	2355	c.1988A>C	c.(1987-1989)aAc>aCc	p.N663T	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.N696T	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	663						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TGTGTGCCCGTTGAGAACAGA	0.468000													5	12					0	0	0.001168	0	0
SCN9A	6335	broad.mit.edu	37	2	167056069	167056069	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:167056069T>C	ENST00000303354.6	-	27	5423	c.5083A>G	c.(5083-5085)Att>Gtt	p.I1695V	SCN9A_ENST00000409435.1_Missense_Mutation_p.I1694V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.I1683V|SCN9A_ENST00000375387.4_Missense_Mutation_p.I1695V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1694						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAGGTTGTAATTTGGAACAGG	0.408000													34	95					0	0	0.008740	0	0
B3GNT1	11041	broad.mit.edu	37	11	66114948	66114948	+	Silent	SNP	C	C	G	rs146812867	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:66114948C>G	ENST00000311181.4	-	1	215	c.69G>C	c.(67-69)gcG>gcC	p.A23A		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	23					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						GCTGCAGCATCGCCACCAGCA	0.647000													17	23					0	0	0.004990	0	0
MAPK4	5596	broad.mit.edu	37	18	48255680	48255680	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:48255680G>A	ENST00000400384.2	+	6	2256	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Missense_Mutation_p.R196H	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	407					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGCTCCGAGCGCTTCCTAGAG	0.692000													14	9					0	0	0.004990	0	0
KCTD8	386617	broad.mit.edu	37	4	44177154	44177154	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:44177154T>C	ENST00000360029.3	-	2	1358	c.1075A>G	c.(1075-1077)Agt>Ggt	p.S359G		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	359						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTGTCACAACTGGAAGTGGAG	0.468000										HNSCC(17;0.042)			17	38					0	0	0.007413	0	0
ACP1	52	broad.mit.edu	37	2	275176	275176	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:275176C>T	ENST00000272067.6	+	4	364	c.268C>T	c.(268-270)Cta>Tta	p.L90L	ACP1_ENST00000272065.5_Silent_p.L90L|ACP1_ENST00000484464.1_3'UTR	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	90						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		TGATTATATACTATGTATGGA	0.343000													4	19					0	0	0.009096	0	0
CDK19	23097	broad.mit.edu	37	6	111136211	111136211	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:111136211C>T	ENST00000368911.3	-	1	308		c.e1+1		CDK19_ENST00000497709.1_Intron|CDK19_ENST00000323817.3_Intron	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19								ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CCTGCTCTTACCCATCTTTCC	0.682000													43	77					0	0	0.014410	0	0
STK4	6789	broad.mit.edu	37	20	43607147	43607147	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:43607147A>T	ENST00000372806.3	+	3	275	c.180A>T	c.(178-180)caA>caT	p.Q60H	STK4_ENST00000372801.1_Missense_Mutation_p.Q60H|STK4_ENST00000499879.2_Missense_Mutation_p.Q60H|STK4_ENST00000396731.4_Missense_Mutation_p.Q60H	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	60	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				CTATTAAGCAAGTTCCTGTGG	0.413000													11	28					0	0	0.001855	0	0
FAT2	2196	broad.mit.edu	37	5	150947267	150947267	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:150947267T>A	ENST00000261800.5	-	1	1238	c.1226A>T	c.(1225-1227)aAt>aTt	p.N409I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	409	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTCGAGCATTAAGTTTAAA	0.537000													30	9					0	0	0.012213	0	0
SLC1A4	6509	broad.mit.edu	37	2	65248205	65248205	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:65248205C>T	ENST00000234256.3	+	8	1767	c.1524C>T	c.(1522-1524)ccC>ccT	p.P508P	SLC1A4_ENST00000531327.1_Silent_p.P210P	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	508					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	AGACATCGCCCCTGGTGACAC	0.587000													21	105					0	0	0.003330	0	0
RIMS2	9699	broad.mit.edu	37	8	105263981	105263981	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:105263981C>T	ENST00000507740.1	+	22	3661	c.3425C>T	c.(3424-3426)cCt>cTt	p.P1142L	RIMS2_ENST00000262231.10_Missense_Mutation_p.P1167L|RIMS2_ENST00000339750.2_Missense_Mutation_p.P264L|RIMS2_ENST00000436393.2_Missense_Mutation_p.P1346L|RIMS2_ENST00000406091.3_Missense_Mutation_p.P1328L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1390					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACCTTGGCCCCTCTGACAAGA	0.448000										HNSCC(12;0.0054)			7	64					0	0	0.006214	0	0
SYT15	83849	broad.mit.edu	37	10	46969378	46969378	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:46969378A>G	ENST00000374325.3	-	2	235	c.83T>C	c.(82-84)cTg>cCg	p.L28P	SYT15_ENST00000503753.1_Missense_Mutation_p.L28P|SYT15_ENST00000374323.4_Intron|SYT15_ENST00000374321.4_Missense_Mutation_p.L28P	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	28						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCTTCTCCACAGACAGCAGCT	0.652000													55	162					0	0	0.014410	0	0
SYK	6850	broad.mit.edu	37	9	93629433	93629433	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:93629433A>G	ENST00000375754.4	+	7	1015	c.867A>G	c.(865-867)atA>atG	p.I289M	SYK_ENST00000375751.4_Intron|SYK_ENST00000375747.1_Intron|SYK_ENST00000375746.1_Missense_Mutation_p.I289M	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	289	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CGGGTGGAATAATCTCAAGAA	0.463000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								33	38					0	0	0.006999	0	0
RASIP1	54922	broad.mit.edu	37	19	49238543	49238543	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:49238543G>A	ENST00000222145.4	-	4	1293	c.1089C>T	c.(1087-1089)ccC>ccT	p.P363P	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	363					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGAAGTCCCCGGGGTCTGCAG	0.672000													19	60					0	0	0.010504	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102605682	102605682	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:102605682C>T	ENST00000334701.7	-	1	341	c.60G>A	c.(58-60)agG>agA	p.R20R	HSP90AA1_ENST00000558600.1_5'UTR	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	0					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CGGGACAGTCCCTGTCCCGAA	0.706000													24	11					0	0	0.003330	0	0
AKAP1	8165	broad.mit.edu	37	17	55195741	55195741	+	Splice_Site	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:55195741G>T	ENST00000337714.3	+	9	2733		c.e9-1		AKAP1_ENST00000539273.1_Splice_Site|AKAP1_ENST00000572557.1_Splice_Site|AKAP1_ENST00000571629.1_Splice_Site	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1						blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TCCTCCTGAAGACGATGACCA	0.532000													32	37					5.71845e-15	6.30023e-15	0.005524	1	0
WDFY3	23001	broad.mit.edu	37	4	85731400	85731400	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:85731400T>C	ENST00000322366.6	-	14	2392	c.1985A>G	c.(1984-1986)gAa>gGa	p.E662G	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Missense_Mutation_p.E662G			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	662						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAAGATCTTTCCATAGCAAC	0.458000													10	29					0	0	0.013537	0	0
ALPI	248	broad.mit.edu	37	2	233322746	233322746	+	Nonsense_Mutation	SNP	C	C	T	rs147248868		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:233322746C>T	ENST00000295463.3	+	8	972	c.895C>T	c.(895-897)Cga>Tga	p.R299*		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	299					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGAGATCCACCGAGACCCCAC	0.617000													62	28					0	0	0.014410	0	0
GON4L	54856	broad.mit.edu	37	1	155796703	155796703	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:155796703G>C	ENST00000437809.1	-	3	744	c.622C>G	c.(622-624)Caa>Gaa	p.Q208E	GON4L_ENST00000368331.1_Missense_Mutation_p.Q208E|GON4L_ENST00000271883.5_Missense_Mutation_p.Q208E|GON4L_ENST00000361040.5_Missense_Mutation_p.Q208E|GON4L_ENST00000471341.1_5'UTR	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	208					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCTTTTCTTGAGGAGAGGCA	0.468000													14	49					0	0	0.006122	0	0
UQCRH	7388	broad.mit.edu	37	1	46769446	46769446	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:46769446T>C	ENST00000311672.5	+	1	144	c.8T>C	c.(7-9)cTg>cCg	p.L3P	UQCRH_ENST00000486951.1_3'UTR	NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	3					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					GACATGGGACTGGAGGACGAG	0.552000													20	60					0	0	0.005443	0	0
MCM3AP	8888	broad.mit.edu	37	21	47700482	47700482	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr21:47700482G>A	ENST00000397708.1	-	4	1705	c.1451C>T	c.(1450-1452)gCa>gTa	p.A484V	MCM3AP_ENST00000291688.1_Missense_Mutation_p.A484V			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	484					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGCCAGGGCTGCAGATGCCTG	0.403000													17	30					0	0	0.014323	0	0
SCNN1A	6337	broad.mit.edu	37	12	6471317	6471317	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:6471317T>C	ENST00000358945.3	-	3	1215	c.775A>G	c.(775-777)Atc>Gtc	p.I259V	SCNN1A_ENST00000228916.2_Missense_Mutation_p.I259V|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000360168.3_Missense_Mutation_p.I318V|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000396966.2_Missense_Mutation_p.I259V|SCNN1A_ENST00000543768.1_Missense_Mutation_p.I282V			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	259					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CTCGACAGGATGTTGATGTAG	0.572000													29	91					0	0	0.010818	0	0
PDZD8	118987	broad.mit.edu	37	10	119044045	119044045	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:119044045A>T	ENST00000334464.5	-	5	2438	c.2199T>A	c.(2197-2199)agT>agA	p.S733R	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	733					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CAAGTTTTAAACTAACATGCC	0.438000													12	4					0	0	0.002450	0	0
COG5	10466	broad.mit.edu	37	7	106921779	106921779	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:106921779G>A	ENST00000393603.2	-	14	1905	c.1634C>T	c.(1633-1635)aCc>aTc	p.T545I	COG5_ENST00000297135.3_Missense_Mutation_p.T545I|COG5_ENST00000347053.3_Missense_Mutation_p.T545I	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	545					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TAACTGGATGGTCTTTGCCAC	0.299000													13	25					0	0	0.010504	0	0
PLCE1	51196	broad.mit.edu	37	10	96025625	96025625	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:96025625C>T	ENST00000371380.3	+	15	4426	c.4191C>T	c.(4189-4191)ccC>ccT	p.P1397P	PLCE1_ENST00000260766.3_Silent_p.P1397P|PLCE1_ENST00000371385.3_Silent_p.P1089P|PLCE1_ENST00000371375.1_Silent_p.P1089P			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1		PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGCAGCTACCCCTCTCATACT	0.413000													18	4					0	0	0.007413	0	0
PRDX5	25824	broad.mit.edu	37	11	64085714	64085714	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:64085714G>A	ENST00000265462.4	+	1	155	c.27G>A	c.(25-27)ctG>ctA	p.L9L	PRDX5_ENST00000352435.4_Silent_p.L9L|PRDX5_ENST00000347941.4_Silent_p.L9L	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	9					cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	TGTGCGCCCTGAGACGCTCAG	0.701000													26	95					0	0	0.012213	0	0
WNK2	65268	broad.mit.edu	37	9	96051184	96051184	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:96051184C>G	ENST00000297954.4	+	20	4259	c.4259C>G	c.(4258-4260)cCt>cGt	p.P1420R	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P1032R|WNK2_ENST00000395477.2_Missense_Mutation_p.P1383R|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P995R	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1420					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCCCAGCCCCTTTGGCCCCC	0.652000													20	13					0	0	0.014323	0	0
LOXL3	84695	broad.mit.edu	37	2	74762468	74762468	+	Silent	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:74762468G>C	ENST00000264094.3	-	9	1601	c.1530C>G	c.(1528-1530)acC>acG	p.T510T	LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409986.1_Silent_p.T365T|LOXL3_ENST00000409549.1_Silent_p.T454T|LOXL3_ENST00000393937.2_Silent_p.T365T	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	510	SRCR 4.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TCCTCTTGCAGGTGATGTGGG	0.582000													38	38					0	0	0.008740	0	0
ZNF786	136051	broad.mit.edu	37	7	148769267	148769267	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:148769267G>A	ENST00000316286.9	-	3	611	c.339C>T	c.(337-339)aaC>aaT	p.N113N	ZNF786_ENST00000491431.1_Silent_p.N199N|ZNF786_ENST00000451334.3_Silent_p.N162N			Q8N393	ZN786_HUMAN	zinc finger protein 786	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTAAATGGTTGTTCTCCCAAC	0.582000													9	22					0	0	0.002450	0	0
LEPREL1	55214	broad.mit.edu	37	3	189690704	189690704	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:189690704T>C	ENST00000319332.5	-	11	1855	c.1658A>G	c.(1657-1659)tAt>tGt	p.Y553C	LEPREL1_ENST00000427335.2_Missense_Mutation_p.Y372C	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	553					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATAGGAAAAATACAGAGTTGA	0.433000													31	21					0	0	0.004289	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277676	140277676	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:140277676C>G	ENST00000458420.3	+	12	2208	c.2018C>G	c.(2017-2019)gCc>gGc	p.A673G		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	673					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AAAACCGAAGCCCCCGGGGAC	0.502000										HNSCC(16;0.037)			17	26					0	0	0.008871	0	0
CAMK2G	818	broad.mit.edu	37	10	75634270	75634270	+	Translation_Start_Site	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:75634270C>T	ENST00000423381.1	-	0	73				CAMK2G_ENST00000351293.3_De_novo_Start_InFrame|CAMK2G_ENST00000394762.2_De_novo_Start_InFrame|CAMK2G_ENST00000322680.3_De_novo_Start_InFrame|CAMK2G_ENST00000322635.3_De_novo_Start_InFrame|CAMK2G_ENST00000444854.2_De_novo_Start_InFrame|CAMK2G_ENST00000472912.1_5'UTR	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma						insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CGTCGGTGCACAGTCACCGCC	0.726000													8	27					0	0	0.010729	0	0
PLXNA4	91584	broad.mit.edu	37	7	131832748	131832748	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:131832748C>G	ENST00000359827.3	-	27	5737	c.4775G>C	c.(4774-4776)gGt>gCt	p.G1592A	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1592A			Q9HCM2	PLXA4_HUMAN	plexin A4	1592						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACCACGGAACCATCTGGCAC	0.507000													12	78					0	0	0.001855	0	0
TAF4	6874	broad.mit.edu	37	20	60581776	60581776	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:60581776G>A	ENST00000252996.4	-	7	2012	c.2013C>T	c.(2011-2013)tcC>tcT	p.S671S		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa		TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TGAAGGCCGCGGAGTCGGGGG	0.657000													99	93					0	0	0.014410	0	0
KMT2A	4297	broad.mit.edu	37	11	118368671	118368671	+	Nonsense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:118368671T>G	ENST00000534358.1	+	21	5708	c.5685T>G	c.(5683-5685)taT>taG	p.Y1895*	KMT2A_ENST00000389506.5_Nonsense_Mutation_p.Y1892*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.Y1854*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GTTTACTATATATTGGCCAAA	0.378000													13	27					0	0	0.003163	0	0
PFKP	5214	broad.mit.edu	37	10	3162099	3162099	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:3162099C>T	ENST00000381075.2	+	18	1746	c.1522C>T	c.(1522-1524)Ctg>Ttg	p.L508L	PFKP_ENST00000381125.4_Silent_p.L516L	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	516					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CCTGGGACTCCTGGAGCTGTC	0.632000											OREG0019976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	72	175					0	0	0.014410	0	0
PIK3C3	5289	broad.mit.edu	37	18	39637870	39637870	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:39637870G>A	ENST00000262039.4	+	22	2373	c.2287G>A	c.(2287-2289)Gga>Aga	p.G763R	PIK3C3_ENST00000588156.1_5'UTR|PIK3C3_ENST00000593098.1_Missense_Mutation_p.G248R|PIK3C3_ENST00000398870.3_Missense_Mutation_p.G700R	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	763	PI3K/PI4K.				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			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CATAGACTTTGGATATATTTT	0.418000										TSP Lung(28;0.18)			9	14					0	0	0.010729	0	0
ALS2	57679	broad.mit.edu	37	2	202593268	202593268	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:202593268G>A	ENST00000264276.6	-	15	3180	c.2808C>T	c.(2806-2808)ttC>ttT	p.F936F	ALS2_ENST00000457679.2_Silent_p.F248F	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	936	PH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TAAAGAGAATGAACCAATTCA	0.488000													6	47					0	0	0.001168	0	0
CDH2	1000	broad.mit.edu	37	18	25532201	25532201	+	Silent	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:25532201A>C	ENST00000269141.3	-	16	3060	c.2637T>G	c.(2635-2637)ggT>ggG	p.G879G	CDH2_ENST00000399380.3_Silent_p.G848G	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	879					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCTGCTCACCACCACTACTTG	0.507000											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	14	68					0	0	0.004007	0	0
GSAP	54103	broad.mit.edu	37	7	77006665	77006665	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:77006665C>T	ENST00000257626.7	-	9	697	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		ACGAAATCCTCAGCTATTCTG	0.323000													17	88					0	0	0.010504	0	0
ZNF136	7695	broad.mit.edu	37	19	12298627	12298627	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:12298627T>C	ENST00000343979.4	+	4	1574	c.1434T>C	c.(1432-1434)tgT>tgC	p.C478C	ZNF136_ENST00000398616.2_Silent_p.C412C	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	478					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CCTTTGAATGTAAGCGATGTG	0.418000													11	9					0	0	0.008291	0	0
AXL	558	broad.mit.edu	37	19	41765721	41765721	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:41765721A>G	ENST00000301178.4	+	20	2787	c.2597A>G	c.(2596-2598)tAt>tGt	p.Y866C	AXL_ENST00000593513.1_Missense_Mutation_p.Y598C|AXL_ENST00000359092.3_Missense_Mutation_p.Y857C	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	866						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCTGGACGCTATGTCCTCTGC	0.652000													61	59					0	0	0.014410	0	0
EFNB2	1948	broad.mit.edu	37	13	107145643	107145643	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:107145643C>T	ENST00000245323.4	-	5	896	c.747G>A	c.(745-747)ttG>ttA	p.L249L		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	249					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GGTACTTCAGCAAGAGGACCA	0.572000													57	111					0	0	0.014410	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728292	20728292	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:20728292G>C	ENST00000427401.4	-	4	811	c.717C>G	c.(715-717)agC>agG	p.S239R		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	239					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						ATGAAAACCGGCTAAAGGCTT	0.428000													5	7					0	0	0.000602	0	0
CYB5R1	51706	broad.mit.edu	37	1	202935955	202935955	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:202935955C>T	ENST00000367249.4	-	2	161	c.87G>A	c.(85-87)ttG>ttA	p.L29L		NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	29					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			ACCTCCGAACCAAGTAGGAGC	0.642000													9	37					0	0	0.004482	0	0
FNIP1	96459	broad.mit.edu	37	5	131008068	131008068	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:131008068T>C	ENST00000307968.7	-	13	1984	c.1985A>G	c.(1984-1986)gAc>gGc	p.D662G	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.D645G|FNIP1_ENST00000510461.1_Missense_Mutation_p.D690G	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TGCACATTTGTCTACTGGAAC	0.418000													75	38					0	0	0.014410	0	0
LRP5	4041	broad.mit.edu	37	11	68207303	68207303	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:68207303G>T	ENST00000294304.7	+	21	4513	c.4407G>T	c.(4405-4407)ggG>ggT	p.G1469G		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1469					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCGGGGCGGGGTGCCCCTCT	0.706000													28	28					9.45814e-24	1.06314e-23	0.004878	1	0
DCT	1638	broad.mit.edu	37	13	95117984	95117984	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:95117984C>T	ENST00000377028.5	-	4	1179	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	DCT_ENST00000446125.1_Missense_Mutation_p.V256M|DCT_ENST00000490854.1_5'UTR	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	256					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCTGTACACACATCACACTCG	0.493000													20	40					0	0	0.004656	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576875	158576875	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:158576875T>C	ENST00000361284.1	+	1	647	c.647T>C	c.(646-648)aTc>aCc	p.I216T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TTCATCACCATCTCCTACGCC	0.532000													30	34					0	0	0.009535	0	0
PCDH18	54510	broad.mit.edu	37	4	138452651	138452651	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:138452651G>A	ENST00000344876.4	-	1	978	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000412923.2_Missense_Mutation_p.L198F|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	198	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACCACTATGAGTTCTGCATAC	0.488000													8	30					0	0	0.003080	0	0
GRSF1	2926	broad.mit.edu	37	4	71693625	71693625	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:71693625T>C	ENST00000254799.6	-	6	1196	c.1079A>G	c.(1078-1080)cAt>cGt	p.H360R	GRSF1_ENST00000502323.1_Missense_Mutation_p.H198R|GRSF1_ENST00000439371.1_Missense_Mutation_p.H198R|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.H242R	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	360					mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			ATTTACTTCATGTTCTTCAAA	0.383000													19	50					0	0	0.014323	0	0
EDEM1	9695	broad.mit.edu	37	3	5229970	5229970	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:5229970C>T	ENST00000600805.1	-	1	12	c.13G>A	c.(13-15)Gca>Aca	p.A5T	EDEM1_ENST00000256497.4_Silent_p.C160C																							CCATCCACTGCCGCGGCCGTG	0.736000													16	31					0	0	0.012319	0	0
ARL6IP6	151188	broad.mit.edu	37	2	153575447	153575447	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:153575447G>A	ENST00000326446.5	+	1	1020	c.309G>A	c.(307-309)cgG>cgA	p.R103R		NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	103						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						AGCCTCGGCGGTGGCCGGTCC	0.632000													25	35					0	0	0.012213	0	0
JUNB	3726	broad.mit.edu	37	19	12903565	12903565	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:12903565A>G	ENST00000302754.4	+	1	1256	c.980A>G	c.(979-981)aAg>aGg	p.K327R		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	327						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CTCAAACAGAAGGTCATGACC	0.652000													22	27					0	0	0.004656	0	0
PIGB	9488	broad.mit.edu	37	15	55632964	55632964	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:55632964C>T	ENST00000164305.5	+	8	1292	c.1001C>T	c.(1000-1002)gCa>gTa	p.A334V	PIGB_ENST00000539642.1_Missense_Mutation_p.A139V|CCPG1_ENST00000563294.1_Intron	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	334					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TGCTATCTAGCACCAAAGAGA	0.378000													4	5					0	0	0.000602	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478519	21478519	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:21478519A>T	ENST00000281523.2	-	5	1134	c.616T>A	c.(616-618)Tgt>Agt	p.C206S	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	206						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CATAGCGAACAGTAAAGAAGC	0.483000													14	44					0	0	0.007413	0	0
TP53	7157	broad.mit.edu	37	17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:7578208T>C	ENST00000420246.2	-	6	773	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000445888.2_Missense_Mutation_p.H214R|TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000269305.4_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	214	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACCACACTATGTCGAAAAGT	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			42	13					0	0	0.014410	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													4	62					0	0	0.009096	0	0
USP40	55230	broad.mit.edu	37	2	234460031	234460031	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:234460031A>G	ENST00000251722.6	-	7	945	c.828T>C	c.(826-828)ttT>ttC	p.F276F	USP40_ENST00000450966.1_Silent_p.F288F|USP40_ENST00000427112.2_Silent_p.F276F			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	276					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCTGTTCACAAAAGGGCTTGA	0.328000													6	1					0	0	0.006214	0	0
PSMD12	5718	broad.mit.edu	37	17	65337149	65337149	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:65337149G>A	ENST00000356126.3	-	11	1288	c.1181C>T	c.(1180-1182)tCa>tTa	p.S394L	PSMD12_ENST00000357146.4_Missense_Mutation_p.S374L	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	394	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TACTAGATTTGAGAGAAAGGC	0.338000													7	18					0	0	0.006214	0	0
ADCY10	55811	broad.mit.edu	37	1	167814903	167814903	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:167814903C>T	ENST00000367848.1	-	21	3126	c.2629G>A	c.(2629-2631)Ggc>Agc	p.G877S	ADCY10_ENST00000545172.1_Missense_Mutation_p.G816S|ADCY10_ENST00000367851.4_Missense_Mutation_p.G969S			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	969					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGTCCCTGCCTCGGCAGTGG	0.463000													15	36					0	0	0.007413	0	0
HLA-C	3107	broad.mit.edu	37	6	31239079	31239079	+	Silent	SNP	G	G	A	rs45558335		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:31239079G>A	ENST00000383329.3	-	3	404	c.390C>T	c.(388-390)gaC>gaT	p.D130D	HLA-C_ENST00000376228.5_Silent_p.D130D			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	130	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GGAGGCGCCCGTCGGGCCCCA	0.741000													25	190					0	0	0.014410	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38390265	38390265	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr21:38390265T>G	ENST00000329553.2	+	4	541	c.331T>G	c.(331-333)Ttc>Gtc	p.F111V	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		CACGATTGACTTCTACGACGA	0.537000													12	29					0	0	0.002450	0	0
IPO5	3843	broad.mit.edu	37	13	98641409	98641409	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:98641409A>G	ENST00000261574.5	+	7	692	c.512A>G	c.(511-513)cAc>cGc	p.H171R	IPO5_ENST00000539640.1_Intron|IPO5_ENST00000490680.1_Missense_Mutation_p.H153R	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	153					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GCTGCCCTTCACATTTTCTGG	0.373000													10	10					0	0	0.010729	0	0
EFS	10278	broad.mit.edu	37	14	23826494	23826494	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:23826494T>A	ENST00000216733.3	-	6	2234	c.1627A>T	c.(1627-1629)Aca>Tca	p.T543S	EFS_ENST00000351354.3_Missense_Mutation_p.T450S|EFS_ENST00000429593.2_Missense_Mutation_p.T374S	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	543					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCCAGTTCTGTTACACACTGC	0.612000													31	101					0	0	0.004289	0	0
KCNC2	3747	broad.mit.edu	37	12	75601613	75601613	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:75601613C>T	ENST00000549446.1	-	2	831	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	KCNC2_ENST00000393288.2_Missense_Mutation_p.G51S|KCNC2_ENST00000350228.2_Missense_Mutation_p.G51S|KCNC2_ENST00000341669.3_Missense_Mutation_p.G51S|KCNC2_ENST00000550433.1_Missense_Mutation_p.G51S|KCNC2_ENST00000298972.1_Missense_Mutation_p.G51S|KCNC2_ENST00000548513.1_Missense_Mutation_p.G51S|KCNC2_ENST00000540018.1_Missense_Mutation_p.G51S	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	51					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						agcTTGTCGCCCGCCGTGGTC	0.736000													41	20					0	0	0.006999	0	0
MOS	4342	broad.mit.edu	37	8	57025641	57025641	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:57025641C>T	ENST00000311923.1	-	1	900	c.901G>A	c.(901-903)Gct>Act	p.A301T		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	301	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AAGACGGCAGCGGAGAGGGAC	0.692000													26	67					0	0	0.005524	0	0
KRT16	3868	broad.mit.edu	37	17	39766722	39766722	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:39766722T>C	ENST00000301653.4	-	6	1205	c.1141A>G	c.(1141-1143)Agt>Ggt	p.S381G		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	381	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TCCTCCACACTGCCAATCAGT	0.577000													59	126					0	0	0.014410	0	0
CNTFR	1271	broad.mit.edu	37	9	34557969	34557969	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:34557969C>A	ENST00000378980.3	-	5	626	c.333G>T	c.(331-333)gaG>gaT	p.E111D	CNTFR_ENST00000351266.4_Missense_Mutation_p.E111D	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	111	Fibronectin type-III 1.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		TGAGCACAGGCTCCCGCGGCG	0.627000													132	252					2.97109e-61	3.50842e-61	0.014410	1	0
SCAP	22937	broad.mit.edu	37	3	47484415	47484415	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:47484415T>C	ENST00000265565.5	-	2	481	c.69A>G	c.(67-69)gcA>gcG	p.A23A	SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000441517.2_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	23					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGGGATAGGATGCACAGAGGA	0.542000													5	18					0	0	0.001168	0	0
MTHFS	10588	broad.mit.edu	37	15	80137594	80137594	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:80137594C>A	ENST00000258874.3	-	3	630	c.570G>T	c.(568-570)atG>atT	p.M190I	ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.M166I	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	190					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		CATCTACCTTCATGTCGTTTT	0.428000													9	50					1.33987e-11	1.44745e-11	0.008291	1	0
CR1	1378	broad.mit.edu	37	1	207679369	207679369	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:207679369C>A	ENST00000367049.4	+	2	242	c.242C>A	c.(241-243)cCg>cAg	p.P81Q	CR1_ENST00000367051.1_Missense_Mutation_p.P81Q|CR1_ENST00000367052.1_Missense_Mutation_p.P81Q|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367053.1_Missense_Mutation_p.P81Q|CR1_ENST00000400960.2_Missense_Mutation_p.P81Q	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	81	Sushi 1.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCGGAAGACCGTTTTCTATC	0.473000													9	44					2.74318e-10	2.92782e-10	0.006214	1	0
DHH	50846	broad.mit.edu	37	12	49488197	49488197	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:49488197G>A	ENST00000266991.2	-	1	405	c.99C>T	c.(97-99)cgC>cgT	p.R33R		NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	33					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						GCGCATAGCGGCGCCGGCCAA	0.706000													11	26					0	0	0.010729	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4047820	4047820	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:4047820C>T	ENST00000322357.4	-	3	1963	c.1685G>A	c.(1684-1686)gGt>gAt	p.G562D	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.G562D	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	562	Poly-Gly.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTCCTCCACCGGCGCCCGC	0.642000													16	69					0	0	0.012319	0	0
UBN2	254048	broad.mit.edu	37	7	138978726	138978726	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:138978726C>A	ENST00000473989.3	+	17	3993	c.3993C>A	c.(3991-3993)caC>caA	p.H1331Q	UBN2_ENST00000288561.8_Splice_Site_p.H1248Q	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAGCATTTCACGGTGAGAACG	0.433000													14	25					2.23348e-06	2.3224e-06	0.004007	1	0
CHST4	10164	broad.mit.edu	37	16	71571354	71571354	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:71571354G>A	ENST00000338482.5	+	3	1117	c.774G>A	c.(772-774)aaG>aaA	p.K258K	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Silent_p.K258K|CHST4_ENST00000572450.1_Silent_p.K258K			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	258					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AGATCTACAAGACCATCCAGT	0.557000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	63					0	0	0.010729	0	0
EEF1A1	1915	broad.mit.edu	37	6	74227942	74227942	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:74227942G>C	ENST00000316292.9	-	6	2066	c.1075C>G	c.(1075-1077)Cct>Gct	p.P359A	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.P359A|EEF1A1_ENST00000331523.2_Missense_Mutation_p.P359A	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	359						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TCCAATACAGGGGCATAGCCG	0.458000													3	57					0	0	0.004672	0	0
E2F8	79733	broad.mit.edu	37	11	19253864	19253864	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:19253864A>G	ENST00000527884.1	-	7	1215	c.983T>C	c.(982-984)aTc>aCc	p.I328T	E2F8_ENST00000250024.4_Missense_Mutation_p.I328T|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	328					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AACTTTCTTGATAAGATCCAG	0.358000													31	21					0	0	0.003755	0	0
DGCR8	54487	broad.mit.edu	37	22	20074109	20074109	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr22:20074109A>G	ENST00000351989.3	+	2	1052	c.623A>G	c.(622-624)aAt>aGt	p.N208S	DGCR8_ENST00000407755.1_Missense_Mutation_p.N208S|DGCR8_ENST00000383024.2_Missense_Mutation_p.N208S	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	208	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTTACTGACAATTTGGAGCTA	0.478000													47	19					0	0	0.014410	0	0
PJA2	9867	broad.mit.edu	37	5	108680459	108680459	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:108680459C>G	ENST00000361189.2	-	8	2065	c.1826G>C	c.(1825-1827)aGt>aCt	p.S609T	PJA2_ENST00000361557.3_Missense_Mutation_p.S609T	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	609	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GCTTTCCTTACTAGCTGGTGG	0.413000													26	22					0	0	0.003755	0	0
MBD6	114785	broad.mit.edu	37	12	57919889	57919889	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:57919889G>C	ENST00000355673.3	+	6	1494	c.1138G>C	c.(1138-1140)Ggc>Cgc	p.G380R	MBD6_ENST00000431731.2_Missense_Mutation_p.G380R	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	380	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGAAGGGAGAGGCCCTCAAAC	0.617000													77	77					0	0	0.014410	0	0
ZNF616	90317	broad.mit.edu	37	19	52619312	52619312	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:52619312C>T	ENST00000600228.1	-	4	1366	c.1105G>A	c.(1105-1107)Gta>Ata	p.V369I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CGGTGACATACAAGATTTGAT	0.418000													47	58					0	0	0.014410	0	0
COL4A3	1285	broad.mit.edu	37	2	228113226	228113226	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:228113226C>T	ENST00000396578.3	+	9	698	c.536C>T	c.(535-537)cCa>cTa	p.P179L	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	179	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCAGGGGCTCCAGGACCCCAG	0.463000													12	6					0	0	0.003163	0	0
CSMD3	114788	broad.mit.edu	37	8	114290867	114290867	+	Silent	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:114290867G>C	ENST00000297405.5	-	3	712	c.468C>G	c.(466-468)acC>acG	p.T156T	CSMD3_ENST00000343508.3_Silent_p.T116T|CSMD3_ENST00000455883.2_Silent_p.T156T|CSMD3_ENST00000352409.3_Silent_p.T156T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	156	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAAATCACTGGTCAAACGTA	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	41					0	0	0.004007	0	0
ACTC1	70	broad.mit.edu	37	15	35084467	35084467	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:35084467A>G	ENST00000290378.4	-	5	1287	c.632T>C	c.(631-633)gTc>gCc	p.V211A	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	211					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AATGTCACGGACAATTTCACG	0.468000													12	8					0	0	0.001855	0	0
ASPA	443	broad.mit.edu	37	17	3379514	3379514	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:3379514C>G	ENST00000263080.2	+	1	219	c.61C>G	c.(61-63)Cat>Gat	p.H21D	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.H21D	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	21			H -> P (in CAND).		aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TGGAGGAACCCATGGGAATGA	0.398000													34	29					0	0	0.008740	0	0
MYH14	79784	broad.mit.edu	37	19	50735294	50735294	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:50735294C>T	ENST00000440075.2	+	10	1128	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	MYH14_ENST00000376970.2_Missense_Mutation_p.R353W|MYH14_ENST00000425460.1_Missense_Mutation_p.R361W|MYH14_ENST00000598205.1_Missense_Mutation_p.R361W|MYH14_ENST00000601313.1_Missense_Mutation_p.R361W|MYH14_ENST00000262269.8_Missense_Mutation_p.R361W|MYH14_ENST00000596571.1_Missense_Mutation_p.R353W			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	353	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGAGTCGCTGCGGGTCCTGGG	0.662000													15	56					0	0	0.010504	0	0
MYO5C	55930	broad.mit.edu	37	15	52534274	52534274	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:52534274C>A	ENST00000261839.7	-	20	2688	c.2527G>T	c.(2527-2529)Gga>Tga	p.G843*	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	843	IQ 4.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCCAGGAATCCTCGGCTGTAG	0.547000													93	100					1.44639e-49	1.69445e-49	0.014410	1	0
ARHGEF1	9138	broad.mit.edu	37	19	42402702	42402702	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:42402702C>G	ENST00000599846.1	+	15	1526	c.1401C>G	c.(1399-1401)ccC>ccG	p.P467P	ARHGEF1_ENST00000378152.4_Silent_p.P393P|ARHGEF1_ENST00000347545.4_Silent_p.P378P|ARHGEF1_ENST00000354532.3_Silent_p.P411P|ARHGEF1_ENST00000337665.4_Silent_p.P426P			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	411	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACAGCCTGCCCAAGAGCCAGG	0.652000													6	16					0	0	0.004482	0	0
FNIP2	57600	broad.mit.edu	37	4	159789770	159789770	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:159789770G>T	ENST00000264433.6	+	13	2057	c.1982G>T	c.(1981-1983)gGc>gTc	p.G661V	FNIP2_ENST00000379346.3_Missense_Mutation_p.G684V	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	661	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	p.G661D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CCGCAAGATGGCTCTTCAAGA	0.522000													14	13					1.49906e-05	1.53714e-05	0.002450	1	0
SASH1	23328	broad.mit.edu	37	6	148865308	148865308	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:148865308C>A	ENST00000367467.3	+	18	3177	c.2702C>A	c.(2701-2703)tCt>tAt	p.S901Y		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	901							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AAGAGATTTTCTGAACCTCAG	0.537000													30	102					4.65686e-17	5.15623e-17	0.003755	1	0
HECW1	23072	broad.mit.edu	37	7	43436489	43436489	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:43436489G>C	ENST00000395891.2	+	7	1236		c.e7+1		HECW1_ENST00000453890.1_Splice_Site|HECW1_ENST00000471043.1_Splice_Site	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			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						TCTCTCTCAGGTATGTTTTGC	0.438000													10	31					0	0	0.010729	0	0
KLHL30	377007	broad.mit.edu	37	2	239054468	239054468	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:239054468T>C	ENST00000409223.1	+	5	1252	c.1145T>C	c.(1144-1146)aTc>aCc	p.I382T	KLHL30_ENST00000305959.4_Missense_Mutation_p.I364T			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	382										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ATCTACGTTATCGGCGGTGAG	0.657000													25	7					0	0	0.012213	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1717398	1717398	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:1717398C>A	ENST00000397412.3	+	17	3198	c.3099C>A	c.(3097-3099)ttC>ttA	p.F1033L	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.F1030L|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.F1033L|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.F411L			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1033						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CAGACAGTTTCCAGGTAGAGT	0.637000													17	58					1.40151e-16	1.54794e-16	0.010504	1	0
JRK	8629	broad.mit.edu	37	8	143745928	143745928	+	RNA	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:143745928C>T	ENST00000507178.2	-	0	1882									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				CACGCAGCGCCCgcagctgcc	0.701000													15	27					0	0	0.007413	0	0
PDZD2	23037	broad.mit.edu	37	5	32048677	32048677	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:32048677T>C	ENST00000438447.1	+	8	1940	c.1552T>C	c.(1552-1554)Tat>Cat	p.Y518H	PDZD2_ENST00000282493.3_Missense_Mutation_p.Y518H			O15018	PDZD2_HUMAN	PDZ domain containing 2	518					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGTTGAAGAATATAACGAGCT	0.527000													51	46					0	0	0.014410	0	0
RPRD2	23248	broad.mit.edu	37	1	150444196	150444196	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:150444196G>T	ENST00000401000.4	+	10	2759	c.2694G>T	c.(2692-2694)ggG>ggT	p.G898G	RPRD2_ENST00000539519.1_Silent_p.G898G|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.G924G			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	924	Ser-rich.						protein binding	p.G924G(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATGAACCTGGGTCTGACCGGT	0.507000													127	119					1.28101e-76	1.51672e-76	0.014410	1	0
C7orf25	79020	broad.mit.edu	37	7	42949751	42949751	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:42949751A>T	ENST00000350427.4	-	2	1024	c.749T>A	c.(748-750)cTg>cAg	p.L250Q	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.L250Q|C7orf25_ENST00000431882.2_Missense_Mutation_p.L308Q|C7orf25_ENST00000447342.1_Missense_Mutation_p.L250Q			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	250										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						AGTAATGTCCAGATTTACTCT	0.413000													18	51					0	0	0.012319	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169985	32169985	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:32169985G>T	ENST00000375023.3	-	21	3761	c.3623C>A	c.(3622-3624)cCa>cAa	p.P1208Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1208					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCAGGGGTCTGGGACTCCCAG	0.637000													79	114					2.84431e-33	3.25483e-33	0.014410	1	0
ITGB5	3693	broad.mit.edu	37	3	124540305	124540305	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:124540305C>T	ENST00000296181.4	-	6	1093	c.797G>A	c.(796-798)cGa>cAa	p.R266Q		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	266	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TGCATCCTTTCGCCAGCCAAT	0.567000													31	149					0	0	0.003755	0	0
MRPS6	64968	broad.mit.edu	37	21	35497670	35497670	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr21:35497670G>A	ENST00000399312.2	+	2	253	c.75G>A	c.(73-75)acG>acA	p.T25T	MRPS6_ENST00000482679.1_3'UTR|AP000320.7_ENST00000362077.4_RNA	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	25					translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						TGAAACGTACGATAGAGGCCC	0.418000													44	44					0	0	0.014410	0	0
STK38	11329	broad.mit.edu	37	6	36483157	36483157	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:36483157G>A	ENST00000229812.7	-	7	912	c.627C>T	c.(625-627)atC>atT	p.I209I		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	209	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTCTCTGTGGATGAATCCAA	0.433000													32	36					0	0	0.006230	0	0
KCND2	3751	broad.mit.edu	37	7	120381638	120381638	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:120381638T>C	ENST00000331113.4	+	3	2294	c.1329T>C	c.(1327-1329)gcT>gcC	p.A443A		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	443					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCGCAAATGCTTACATGCAGA	0.368000													14	24					0	0	0.010504	0	0
FAM129B	64855	broad.mit.edu	37	9	130280165	130280165	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:130280165C>T	ENST00000373312.3	-	6	858	c.645G>A	c.(643-645)atG>atA	p.M215I	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.M202I	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	215							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ACTGTCGGTACATGCGGATGG	0.612000													21	30					0	0	0.005443	0	0
PDZD2	23037	broad.mit.edu	37	5	32089375	32089375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:32089375G>T	ENST00000438447.1	+	20	6209	c.5821G>T	c.(5821-5823)Gag>Tag	p.E1941*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.E1941*			O15018	PDZD2_HUMAN	PDZ domain containing 2	1941					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGCCGACCACGAGGACCCTGA	0.602000													96	88					1.26289e-39	1.46022e-39	0.014410	1	0
PTPN22	26191	broad.mit.edu	37	1	114372323	114372323	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:114372323T>G	ENST00000359785.5	-	18	2276	c.2141A>C	c.(2140-2142)cAg>cCg	p.Q714P	PTPN22_ENST00000538253.1_Missense_Mutation_p.Q470P|PTPN22_ENST00000525799.1_Missense_Mutation_p.Q587P|PTPN22_ENST00000528414.1_Missense_Mutation_p.Q659P|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.Q714P	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	714					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATTGGGCCTGCATACCTTA	0.338000													3	15					0	0	0.004672	0	0
KCNK15	60598	broad.mit.edu	37	20	43374640	43374640	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:43374640A>T	ENST00000372861.3	+	1	220	c.89A>T	c.(88-90)gAg>gTg	p.E30V	RP11-445H22.4_ENST00000427303.1_RNA	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	30						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GACGCGCTCGAGTCCGAGGCG	0.721000													4	17					0	0	0.009096	0	0
KL	9365	broad.mit.edu	37	13	33628356	33628356	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:33628356G>C	ENST00000380099.3	+	2	1280	c.1272G>C	c.(1270-1272)aaG>aaC	p.K424N	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.K117N	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	424	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGACCACCAAGAGAGATGATG	0.393000													22	19					0	0	0.003330	0	0
CRY2	1408	broad.mit.edu	37	11	45891186	45891186	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:45891186C>T	ENST00000443527.2	+	7	1097	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	CRY2_ENST00000417225.2_Missense_Mutation_p.P277S	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	338	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CATCCAGATCCCCTGGGACCG	0.587000													43	161					0	0	0.014410	0	0
MUC20	200958	broad.mit.edu	37	3	195453217	195453217	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:195453217C>G	ENST00000320736.6	+	3	1356	c.1230C>G	c.(1228-1230)ctC>ctG	p.L410L	MUC20_ENST00000445522.2_Silent_p.L546L|MUC20_ENST00000436408.1_Silent_p.L581L|MUC20_ENST00000447234.2_Silent_p.L581L			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	581					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AAGCCGCCCTCAAGAACTTCA	0.597000													14	105					0	0	0.004007	0	0
MROH2B	133558	broad.mit.edu	37	5	41045898	41045898	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:41045898G>C	ENST00000399564.4	-	18	2236	c.1786C>G	c.(1786-1788)Cag>Gag	p.Q596E	MROH2B_ENST00000506092.2_Missense_Mutation_p.Q151E	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.Q596K(1)									TTGAAATCCTGAGTCAGCTGA	0.423000													112	93					0	0	0.014410	0	0
AIM1	202	broad.mit.edu	37	6	107011686	107011686	+	Silent	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:107011686T>G	ENST00000369066.3	+	19	5449	c.4962T>G	c.(4960-4962)tcT>tcG	p.S1654S	AIM1_ENST00000535438.1_Silent_p.S473S	NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1654	Ricin B-type lectin.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGGTAACATCTGGCTCCAAGC	0.493000													30	36					0	0	0.010771	0	0
RNF181	51255	broad.mit.edu	37	2	85823723	85823723	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:85823723G>T	ENST00000441634.1	+	2	207	c.168G>T	c.(166-168)aaG>aaT	p.K56N	RNF181_ENST00000306368.4_Missense_Mutation_p.K56N			Q9P0P0	RN181_HUMAN	ring finger protein 181	56							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						CAGCTGCCAAGACTGTGGTTG	0.537000													20	28					2.98393e-07	3.11001e-07	0.002780	1	0
RGPD3	653489	broad.mit.edu	37	2	107073498	107073498	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:107073498C>T	ENST00000409886.3	-	4	421	c.334G>A	c.(334-336)Gga>Aga	p.G112R	RGPD3_ENST00000304514.7_Missense_Mutation_p.G112R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	112					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCTGCTCTTCCATCAGTAACA	0.343000													19	29					0	0	0.003330	0	0
KIAA1804	84451	broad.mit.edu	37	1	233512183	233512183	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:233512183C>A	ENST00000366624.3	+	8	2095	c.1834C>A	c.(1834-1836)Cct>Act	p.P612T	MLK4_ENST00000366622.1_Missense_Mutation_p.P58T	NM_032435.2	NP_115811.2																					TAGGATAAGACCTCTCTCCGA	0.378000													3	17					0.000602214	0.000613264	0.000602	1	0
ARNT2	9915	broad.mit.edu	37	15	80872758	80872758	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:80872758A>G	ENST00000533983.1	+	17	1926	c.1587A>G	c.(1585-1587)tcA>tcG	p.S529S	RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000303329.4_Silent_p.S540S|ARNT2_ENST00000527771.1_Silent_p.S529S			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	540					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTAGCTCTTCAGTGGTTCATG	0.512000													23	92					0	0	0.006320	0	0
FGF20	26281	broad.mit.edu	37	8	16859521	16859521	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:16859521G>A	ENST00000180166.5	-	1	169	c.21C>T	c.(19-21)gtC>gtT	p.V7V		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	7					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GAAAGCCCCCGACTTCGGCTA	0.637000													6	3					0	0	0.003080	0	0
F2RL1	2150	broad.mit.edu	37	5	76129480	76129480	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:76129480G>C	ENST00000296677.4	+	2	1254	c.1048G>C	c.(1048-1050)Gat>Cat	p.D350H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	350					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGTTTCACATGATTTCAGGGA	0.488000													129	53					0	0	0.014410	0	0
AP5B1	91056	broad.mit.edu	37	11	65547232	65547232	+	Silent	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:65547232T>A	ENST00000532090.2	-	2	942	c.732A>T	c.(730-732)gcA>gcT	p.A244A		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	187	Leu-rich.						protein binding			lung(1)	1						CCTCCTCAGCTGCCGGCCAGC	0.662000													141	115					0	0	0.014410	0	0
TSPAN2	10100	broad.mit.edu	37	1	115601537	115601537	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:115601537T>C	ENST00000369516.2	-	5	442	c.411A>G	c.(409-411)aaA>aaG	p.K137K	TSPAN2_ENST00000369515.2_Silent_p.K112K|TSPAN2_ENST00000369514.2_Silent_p.K137K	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	137						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCCCATTGCCTTTTCCCCTGT	0.418000													3	83					0	0	0.004672	0	0
EPHB4	2050	broad.mit.edu	37	7	100417868	100417868	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:100417868G>C	ENST00000358173.3	-	5	1327	c.859C>G	c.(859-861)Cca>Gca	p.P287A	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.P287A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	287	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCTGGGCATGGCTGGCAGGAC	0.592000													164	335					0	0	0.014410	0	0
ITGAV	3685	broad.mit.edu	37	2	187533614	187533614	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:187533614T>C	ENST00000261023.3	+	25	2833	c.2559T>C	c.(2557-2559)acT>acC	p.T853T	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000474571.1_3'UTR|ITGAV_ENST00000433736.2_Silent_p.T807T|ITGAV_ENST00000374907.3_Silent_p.T817T	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	853					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TGAACTGCACTTCAGATATGG	0.343000													19	27					0	0	0.003330	0	0
BCL11B	64919	broad.mit.edu	37	14	99723962	99723962	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:99723962C>T	ENST00000345514.2	-	2	539	c.273G>A	c.(271-273)aaG>aaA	p.K91K	BCL11B_ENST00000357195.3_Silent_p.K91K|BCL11B_ENST00000443726.2_Intron	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	490						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGTCCAGGGCCTTGTCATAGC	0.587000			T	TLX3	T-ALL								131	84					0	0	0.014410	0	0
ANXA13	312	broad.mit.edu	37	8	124714886	124714886	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:124714886C>A	ENST00000262219.6	-	4	372	c.305G>T	c.(304-306)gGc>gTc	p.G102V	ANXA13_ENST00000419625.1_Missense_Mutation_p.G61V	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	61					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AATCACCTTGCCGTACGTTGC	0.507000													26	102					1.26612e-14	1.39148e-14	0.003271	1	0
MAP3K7	6885	broad.mit.edu	37	6	91254347	91254347	+	Nonsense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:91254347A>C	ENST00000369329.3	-	12	1376	c.1215T>G	c.(1213-1215)taT>taG	p.Y405*	MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000369320.1_Intron|MAP3K7_ENST00000369325.3_Nonsense_Mutation_p.Y405*|MAP3K7_ENST00000369332.3_Intron	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	405					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TAGGCTTGGAATAGGCTGCAA	0.388000													9	34					0	0	0.006214	0	0
STRN4	29888	broad.mit.edu	37	19	47226204	47226204	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:47226204T>C	ENST00000391910.3	-	14	2240	c.1790A>G	c.(1789-1791)cAc>cGc	p.H597R	STRN4_ENST00000263280.6_Missense_Mutation_p.H590R|STRN4_ENST00000539396.1_Missense_Mutation_p.H471R|STRN4_ENST00000594357.2_5'UTR			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	590						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGGGACCCCGTGCTCTGAGGG	0.662000													27	67					0	0	0.009535	0	0
PODN	127435	broad.mit.edu	37	1	53542872	53542872	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:53542872C>G	ENST00000371500.3	+	8	1020	c.679C>G	c.(679-681)Ctg>Gtg	p.L227V	PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.L246V|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	198					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTCTGTGTACCTGCACAACAA	0.627000													66	204					0	0	0.014410	0	0
KEL	3792	broad.mit.edu	37	7	142650920	142650920	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:142650920C>A	ENST00000355265.2	-	9	1522	c.1048G>T	c.(1048-1050)Gtg>Ttg	p.V350L	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	350					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ATCTCCTCCACCAGTTGTGAC	0.537000													109	199					5.88774e-50	6.91576e-50	0.014410	1	0
VPS4A	27183	broad.mit.edu	37	16	69352762	69352762	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:69352762A>G	ENST00000254950.11	+	5	536	c.380A>G	c.(379-381)aAc>aGc	p.N127S	RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.N151S	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	127					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ATACGGTGGAACGACGTGGCC	0.632000													72	239					0	0	0.014410	0	0
NPLOC4	55666	broad.mit.edu	37	17	79580442	79580442	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:79580442G>A	ENST00000374747.5	-	4	417	c.288C>T	c.(286-288)ggC>ggT	p.G96G	NPLOC4_ENST00000539314.1_5'UTR|NPLOC4_ENST00000331134.6_Silent_p.G96G|NPLOC4_ENST00000574344.1_5'UTR			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	96					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AGACTTTGAAGCCCGGTGGAA	0.517000													3	26					0	0	0.004672	0	0
DCDC1	341019	broad.mit.edu	37	11	30914479	30914479	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:30914479T>C	ENST00000597505.1	-	34	4958	c.4959A>G	c.(4957-4959)atA>atG	p.I1653M	DCDC1_ENST00000406071.2_Missense_Mutation_p.I391M			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCTTGACTGCTATACGTTTGG	0.428000													9	34					0	0	0.008291	0	0
IL32	9235	broad.mit.edu	37	16	3119252	3119252	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:3119252C>T	ENST00000525643.2	+	7	795	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	IL32_ENST00000529550.1_Silent_p.L155L|IL32_ENST00000551513.1_Silent_p.L192L|IL32_ENST00000549213.1_Intron|IL32_ENST00000533097.2_Silent_p.L155L|IL32_ENST00000529699.1_Silent_p.L135L|IL32_ENST00000531965.1_Silent_p.L145L|IL32_ENST00000534507.1_Silent_p.L201L|IL32_ENST00000552356.1_Silent_p.L135L|IL32_ENST00000530538.2_Silent_p.L155L|IL32_ENST00000548476.1_Silent_p.L201L|IL32_ENST00000382213.3_Silent_p.L146L|IL32_ENST00000548652.1_Silent_p.L146L|IL32_ENST00000528163.2_Silent_p.L155L|IL32_ENST00000444393.3_Silent_p.L155L|IL32_ENST00000548246.1_Silent_p.L115L|IL32_ENST00000396890.2_Silent_p.L201L|IL32_ENST00000008180.9_Silent_p.L135L|IL32_ENST00000526464.2_Silent_p.L155L|IL32_ENST00000552664.1_Silent_p.L155L|IL32_ENST00000552936.1_Silent_p.L179L|IL32_ENST00000396887.3_Intron|IL32_ENST00000325568.5_Silent_p.L155L|IL32_ENST00000530890.1_Silent_p.L135L|IL32_ENST00000440815.3_Silent_p.L155L|IL32_ENST00000551122.1_Intron			P24001	IL32_HUMAN	interleukin 32	201					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTGCTGCTCTCTGTCAGAGCT	0.592000													11	62					0	0	0.010729	0	0
FH	2271	broad.mit.edu	37	1	241680601	241680601	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:241680601A>T	ENST00000366560.3	-	2	186	c.148T>A	c.(148-150)Ttc>Atc	p.F50I	FH_ENST00000493477.1_5'UTR	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	50					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TCTATCCGGAAGGAATTTTGG	0.383000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				3	16					0	0	0.004672	0	0
ZNF462	58499	broad.mit.edu	37	9	109694734	109694734	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:109694734G>T	ENST00000277225.5	+	5	6309	c.6020G>T	c.(6019-6021)cGt>cTt	p.R2007L	ZNF462_ENST00000457913.1_Missense_Mutation_p.R2067L|ZNF462_ENST00000441147.2_Missense_Mutation_p.R913L|ZNF462_ENST00000497489.1_3'UTR			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2007					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGGGGCTGCGTTCTCATGAG	0.537000													20	59					6.44725e-10	6.81567e-10	0.014323	1	0
CNOT8	9337	broad.mit.edu	37	5	154250228	154250228	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:154250228A>G	ENST00000517876.1	+	5	795	c.319A>G	c.(319-321)Atg>Gtg	p.M107V	CNOT8_ENST00000521450.1_Start_Codon_SNP_p.M1V|CNOT8_ENST00000521583.1_Start_Codon_SNP_p.M1V|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000520671.1_Start_Codon_SNP_p.M1V|CNOT8_ENST00000403027.2_Missense_Mutation_p.M107V|CNOT8_ENST00000523698.1_Start_Codon_SNP_p.M1V|CNOT8_ENST00000285896.6_Missense_Mutation_p.M107V			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	107					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGAGAGGACATGTACTCCCA	0.398000													16	7					0	0	0.006122	0	0
ARID2	196528	broad.mit.edu	37	12	46287258	46287258	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:46287258A>T	ENST00000334344.6	+	19	5375	c.5203A>T	c.(5203-5205)Aat>Tat	p.N1735Y	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.N1586Y|ARID2_ENST00000457135.1_Missense_Mutation_p.N343Y|ARID2_ENST00000444670.1_Missense_Mutation_p.N1345Y	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1735					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGCCATTGTGAATCATCCCAG	0.443000			"""N, S, F"""		hepatocellular carcinoma								3	20					0	0	0.009096	0	0
HIST2H2BA	337875	broad.mit.edu	37	1	120906281	120906281	+	RNA	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:120906281G>A	ENST00000430394.1	+	0	254					NR_027337.1																						GAGGCGTCCCGCCTGGCGCAC	0.652000													53	308					0	0	0.014410	0	0
ZNF23	7571	broad.mit.edu	37	16	71483261	71483261	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:71483261G>A	ENST00000393539.2	-	6	1480	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	ZNF23_ENST00000417828.1_Missense_Mutation_p.P223S|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.P165S|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.P223S|ZNF23_ENST00000564528.1_Missense_Mutation_p.P165S|ZNF23_ENST00000497160.1_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		CATTTGAAGGGTTTCTCCCCA	0.438000													40	32					0	0	0.014410	0	0
COL6A6	131873	broad.mit.edu	37	3	130381085	130381085	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:130381085C>G	ENST00000358511.6	+	34	6466	c.6435C>G	c.(6433-6435)ggC>ggG	p.G2145G	COL6A6_ENST00000453409.2_Silent_p.G2145G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2145	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCAGCTTGGCCGAATTCATA	0.448000													18	116					0	0	0.005443	0	0
ATPAF1	64756	broad.mit.edu	37	1	47110887	47110887	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:47110887A>G	ENST00000576409.1	-	7	761	c.699T>C	c.(697-699)ttT>ttC	p.F233F	ATPAF1_ENST00000329231.4_Intron|ATPAF1_ENST00000532925.1_Silent_p.F122F|ATPAF1_ENST00000574428.1_Intron|ATPAF1_ENST00000371937.4_Silent_p.F210F|ATPAF1_ENST00000542495.1_Silent_p.F59F			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	210					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					ATTGTCCTACAAAAAACTCAT	0.398000													15	48					0	0	0.006122	0	0
RBFOX1	54715	broad.mit.edu	37	16	7743327	7743327	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:7743327G>A	ENST00000547372.1	+	15	1441	c.1135G>A	c.(1135-1137)Gtc>Atc	p.V379I	RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V353I|RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V357I|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000535565.2_Missense_Mutation_p.V293I			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	336					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AAATCAGTTCGTCTTCGTTGC	0.428000													12	53					0	0	0.002450	0	0
PPP1R36	145376	broad.mit.edu	37	14	65031546	65031546	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:65031546C>T	ENST00000298705.1	+	4	356	c.260C>T	c.(259-261)gCt>gTt	p.A87V	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	87																	GATGGTCCAGCTTCAGACAGG	0.408000													41	67					0	0	0.014410	0	0
FOXB2	442425	broad.mit.edu	37	9	79635344	79635344	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:79635344G>A	ENST00000376708.1	+	1	774	c.774G>A	c.(772-774)gcG>gcA	p.A258A		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	258	Poly-Ala.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						ctgccgccgcggccgcGGCGT	0.731000													16	20					0	0	0.004990	0	0
CNKSR3	154043	broad.mit.edu	37	6	154762424	154762424	+	Splice_Site	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:154762424A>C	ENST00000607772.1	-	4	1052		c.e4+1		CNKSR3_ENST00000479339.1_Splice_Site	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3						negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CATACTACTGACCTTCTGGAC	0.378000													5	28					0	0	0.001984	0	0
OR52N5	390075	broad.mit.edu	37	11	5799737	5799737	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:5799737T>A	ENST00000317093.2	-	1	160	c.128A>T	c.(127-129)tAc>tTc	p.Y43F	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAAGATGATGTACATTGTGCA	0.408000													44	36					0	0	0.014410	0	0
MEGF9	1955	broad.mit.edu	37	9	123421791	123421791	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:123421791C>T	ENST00000373930.3	-	2	775	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	MEGF9_ENST00000426959.1_Missense_Mutation_p.G259R	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	222	Laminin EGF-like 1.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TCACACTGCCCTGTGGTCTGG	0.478000													8	11					0	0	0.006214	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68233024	68233024	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:68233024G>A	ENST00000347230.4	-	32	6069	c.5931C>T	c.(5929-5931)gaC>gaT	p.D1977D	ZFYVE26_ENST00000555452.1_Silent_p.D1977D	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1977					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCTTCATGATGTCCGTGAGCA	0.587000													45	128					0	0	0.014410	0	0
HSPA8	3312	broad.mit.edu	37	11	122929417	122929417	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:122929417G>A	ENST00000534624.1	-	7	1721	c.1445C>T	c.(1444-1446)gCc>gTc	p.A482V	HSPA8_ENST00000227378.3_Missense_Mutation_p.A482V|HSPA8_ENST00000533540.1_Missense_Mutation_p.A336V|HSPA8_ENST00000534319.1_Missense_Mutation_p.A246V|HSPA8_ENST00000532636.1_Missense_Mutation_p.A482V|HSPA8_ENST00000526110.1_Missense_Mutation_p.A463V|HSPA8_ENST00000453788.2_Intron	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	482					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TATACCATTGGCATCAATGTC	0.448000													29	35					0	0	0.009535	0	0
RTL1	388015	broad.mit.edu	37	14	101351019	101351019	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:101351019G>A	ENST00000534062.1	-	1	165	c.107C>T	c.(106-108)aCg>aTg	p.T36M		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	36										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						ACTGCCCGACGTCGCCTCGGT	0.587000													12	41					0	0	0.004990	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43218291	43218291	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr22:43218291G>C	ENST00000263245.5	-	9	1016	c.797C>G	c.(796-798)tCt>tGt	p.S266C	ARFGAP3_ENST00000429508.2_Missense_Mutation_p.S194C|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.S222C	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	266					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TTCTTCTTTAGATACCACCTT	0.338000													19	12					0	0	0.012319	0	0
MYO7A	4647	broad.mit.edu	37	11	76915135	76915135	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:76915135A>G	ENST00000409709.3	+	39	5613	c.5341A>G	c.(5341-5343)Atg>Gtg	p.M1781V	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Missense_Mutation_p.M1732V|MYO7A_ENST00000458637.2_Missense_Mutation_p.M1743V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1781	MyTH4 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCTCAAGTACATGGGCGACTA	0.617000													4	13					0	0	0.000602	0	0
ARAP2	116984	broad.mit.edu	37	4	36231078	36231078	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:36231078T>C	ENST00000303965.4	-	2	520	c.31A>G	c.(31-33)Ata>Gta	p.I11V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	11	SAM.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AAATCTTTTATATCCACATTT	0.383000													8	35					0	0	0.010729	0	0
PLCB1	23236	broad.mit.edu	37	20	8862423	8862423	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:8862423T>G	ENST00000338037.6	+	32	3605	c.3578T>G	c.(3577-3579)gTg>gGg	p.V1193G	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1193					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCTGGAAAAGTGAACCACAAG	0.502000													59	68					0	0	0.014410	0	0
PDPN	10630	broad.mit.edu	37	1	13933692	13933692	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:13933692A>T	ENST00000294489.6	+	2	661	c.320A>T	c.(319-321)gAc>gTc	p.D107V	PDPN_ENST00000513143.1_5'UTR|PDPN_ENST00000376057.4_Missense_Mutation_p.D107V|PDPN_ENST00000376061.4_5'UTR|PDPN_ENST00000475043.1_5'UTR|PDPN_ENST00000509009.1_Missense_Mutation_p.D26V|PDPN_ENST00000487038.1_5'UTR			Q86YL7	PDPN_HUMAN	podoplanin	31					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CCAGAAGATGACACTGAGACT	0.517000													34	52					0	0	0.006999	0	0
SEL1L2	80343	broad.mit.edu	37	20	13856714	13856714	+	Silent	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:13856714G>C	ENST00000284951.5	-	12	1148	c.1074C>G	c.(1072-1074)gcC>gcG	p.A358A	SEL1L2_ENST00000378072.5_Silent_p.A358A|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	358						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGTACTTGAAGGCAGTAGCGT	0.388000													23	94					0	0	0.006320	0	0
FBXL5	26234	broad.mit.edu	37	4	15626988	15626988	+	Silent	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:15626988A>C	ENST00000341285.3	-	9	1861	c.1737T>G	c.(1735-1737)ccT>ccG	p.P579P	FBXL5_ENST00000382358.4_Silent_p.P453P|FBXL5_ENST00000412094.2_Silent_p.P562P	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	579					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CTTTTCCCCTAGGCAATCTAG	0.398000													8	10					0	0	0.006214	0	0
FBXL6	26233	broad.mit.edu	37	8	145579794	145579794	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:145579794G>T	ENST00000331890.5	-	8	1370	c.1306C>A	c.(1306-1308)Cag>Aag	p.Q436K	FBXL6_ENST00000455319.2_Missense_Mutation_p.Q430K|FBXL6_ENST00000526524.1_Intron	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	436					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CACCACTTCTGGGTCAAAAAG	0.592000													58	105					1.53134e-21	1.71696e-21	0.014410	1	0
ZNF385A	25946	broad.mit.edu	37	12	54765302	54765302	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:54765302T>C	ENST00000546970.1	-	6	848	c.559A>G	c.(559-561)Aag>Gag	p.K187E	ZNF385A_ENST00000352268.6_Intron|ZNF385A_ENST00000551771.1_Intron|ZNF385A_ENST00000551109.1_Missense_Mutation_p.K187E|ZNF385A_ENST00000338010.5_Missense_Mutation_p.K207E|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000394313.2_Missense_Mutation_p.K187E|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						ACAGCCACCTTGCACAGAGCA	0.612000													96	83					0	0	0.014410	0	0
MCMDC2	157777	broad.mit.edu	37	8	67803255	67803255	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:67803255T>C	ENST00000422365.2	+	10	1400	c.1229T>C	c.(1228-1230)aTa>aCa	p.I410T	MCMDC2_ENST00000541540.1_Missense_Mutation_p.I347T|MCMDC2_ENST00000313616.5_Missense_Mutation_p.I410T|MCMDC2_ENST00000396592.3_Missense_Mutation_p.I410T	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	410					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						ATCTGCTTTATAGGAGACTTG	0.368000													17	12					0	0	0.014323	0	0
STX12	23673	broad.mit.edu	37	1	28099877	28099877	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:28099877G>C	ENST00000373943.4	+	1	184	c.59G>C	c.(58-60)cGg>cCg	p.R20P	STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	20					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCAGCTCCGGGACTTCAGC	0.657000													37	39					0	0	0.006999	0	0
JUP	3728	broad.mit.edu	37	17	39923802	39923802	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:39923802G>A	ENST00000393931.3	-	5	856	c.738C>T	c.(736-738)gcC>gcT	p.A246A	JUP_ENST00000310706.5_Silent_p.A246A|JUP_ENST00000540235.1_Silent_p.A246A|JUP_ENST00000393930.1_Silent_p.A246A	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	246					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCGTGGTGATGGCATAGAACA	0.637000													24	85					0	0	0.003330	0	0
WNK1	65125	broad.mit.edu	37	12	989117	989117	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:989117G>T	ENST00000315939.6	+	11	3395	c.2752G>T	c.(2752-2754)Gca>Tca	p.A918S	WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.A1416S|WNK1_ENST00000340908.4_Missense_Mutation_p.A511S	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	918					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTACAACCAGCAGTTCAGTC	0.512000													39	41					3.86236e-30	4.39715e-30	0.014410	1	0
KDM2B	84678	broad.mit.edu	37	12	121947735	121947735	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:121947735C>A	ENST00000377069.4	-	11	1595	c.1189G>T	c.(1189-1191)Gag>Tag	p.E397*	KDM2B_ENST00000538046.2_Nonsense_Mutation_p.E338*|KDM2B_ENST00000377071.4_Nonsense_Mutation_p.E428*|KDM2B_ENST00000536437.1_Nonsense_Mutation_p.E311*	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	428					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCTCGCcctcctcgtccttc	0.647000													12	34					4.14922e-12	4.4933e-12	0.004007	1	0
ZC3H10	84872	broad.mit.edu	37	12	56515604	56515604	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:56515604T>C	ENST00000257940.2	+	3	1534	c.1258T>C	c.(1258-1260)Tac>Cac	p.Y420H	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	420							nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CATGGTGACTTACCCTATCGC	0.602000													45	31					0	0	0.014410	0	0
GPR75	10936	broad.mit.edu	37	2	54080390	54080390	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:54080390G>T	ENST00000394705.2	-	2	1774	c.1504C>A	c.(1504-1506)Cca>Aca	p.P502T	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	502						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAGTTTACTGGCTGTAAGTTA	0.458000													29	93					2.61193e-14	2.86345e-14	0.009535	1	0
FUT8	2530	broad.mit.edu	37	14	66028339	66028339	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:66028339A>C	ENST00000360689.5	+	3	1785	c.58A>C	c.(58-60)Acc>Ccc	p.T20P	FUT8_ENST00000394585.1_Missense_Mutation_p.T20P|FUT8_ENST00000557164.1_Intron|FUT8_ENST00000394586.2_Missense_Mutation_p.T20P|FUT8_ENST00000358307.2_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	20					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGCCTGGGGGACCTTGCTGTT	0.473000													70	52					0	0	0.014410	0	0
TMEM53	79639	broad.mit.edu	37	1	45120323	45120323	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:45120323C>T	ENST00000372237.3	-	3	905	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.V218M|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372242.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	248						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GCAGATGACACGAAATCCACA	0.592000													118	134					0	0	0.014410	0	0
MAMSTR	284358	broad.mit.edu	37	19	49217717	49217717	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:49217717T>A	ENST00000318083.6	-	7	692	c.629A>T	c.(628-630)gAg>gTg	p.E210V	MAMSTR_ENST00000377367.3_Intron|MAMSTR_ENST00000419611.1_Missense_Mutation_p.E107V|MAMSTR_ENST00000356751.4_Missense_Mutation_p.E107V|MAMSTR_ENST00000594582.1_Intron			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	210	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CTTcggccgctcgcggggcgg	0.766000													8	4					0	0	0.003080	0	0
FAM84A	151354	broad.mit.edu	37	2	14774804	14774804	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:14774804C>T	ENST00000295092.2	+	2	989	c.701C>T	c.(700-702)gCa>gTa	p.A234V	FAM84A_ENST00000331243.4_Missense_Mutation_p.A234V	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	234										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GAGGTGCCGGCAGGCACGCAG	0.642000													11	5					0	0	0.001855	0	0
KIF21A	55605	broad.mit.edu	37	12	39763563	39763563	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:39763563G>T	ENST00000395670.3	-	3	837	c.418C>A	c.(418-420)Cca>Aca	p.P140T	KIF21A_ENST00000541463.2_Missense_Mutation_p.P140T|KIF21A_ENST00000361418.5_Missense_Mutation_p.P140T|KIF21A_ENST00000361961.3_Missense_Mutation_p.P140T|KIF21A_ENST00000544797.2_Missense_Mutation_p.P140T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	140	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTAAAATCTGGAGCAGGAAGC	0.299000													4	8					2.56e-06	2.64951e-06	0.009096	1	0
RNFT1	51136	broad.mit.edu	37	17	58040588	58040588	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:58040588C>T	ENST00000305783.8	-	2	169	c.114G>A	c.(112-114)atG>atA	p.M38I	RNFT1_ENST00000442346.2_Start_Codon_SNP_p.M1I|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	38						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			GATTGGCTTGCATGGCCCTTA	0.453000													11	40					0	0	0.013537	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53698905	53698905	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:53698905G>C	ENST00000262135.4	-	10	1213	c.1120C>G	c.(1120-1122)Cat>Gat	p.H374D	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.H374D|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.H374D|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.H374D	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	374					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGCTCTTCATGGGCAGCACTG	0.438000													15	17					0	0	0.006122	0	0
TNC	3371	broad.mit.edu	37	9	117846585	117846585	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:117846585G>T	ENST00000350763.4	-	4	2445	c.2034C>A	c.(2032-2034)atC>atA	p.I678I	TNC_ENST00000537320.1_Silent_p.I678I|TNC_ENST00000535648.1_Silent_p.I678I|TNC_ENST00000341037.4_Silent_p.I678I|TNC_ENST00000340094.3_Silent_p.I678I|TNC_ENST00000542877.1_Silent_p.I678I|TNC_ENST00000423613.2_Silent_p.I678I|TNC_ENST00000345230.3_Silent_p.I678I|TNC_ENST00000346706.3_Silent_p.I678I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	678	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCTCCTGGATGATGGTGGACG	0.572000													14	43					3.41278e-10	3.63375e-10	0.004990	1	0
CDH23	64072	broad.mit.edu	37	10	73574769	73574769	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:73574769C>T	ENST00000224721.6	+	69	9819	c.9814C>T	c.(9814-9816)Cgc>Tgc	p.R3272C	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R1027C	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3267					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGGTAGCCTGCGCTTCCGCCA	0.667000													15	86					0	0	0.006122	0	0
GPR123	84435	broad.mit.edu	37	10	134912182	134912182	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:134912182T>A	ENST00000607359.1	+	13	2330	c.2330T>A	c.(2329-2331)cTg>cAg	p.L777Q	GPR123_ENST00000392607.3_Missense_Mutation_p.L57Q			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	57						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CACACGCTCCTGAATTTCTGC	0.652000													88	45					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179472309	179472309	+	Silent	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:179472309A>C	ENST00000589042.1	-	277	53330	c.53106T>G	c.(53104-53106)ccT>ccG	p.P17702P	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.P8637P|TTN_ENST00000342992.6_Silent_p.P15134P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.P16061P|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.P8762P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.P8829P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16061	Fibronectin type-III 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTTTTGTAGGTACAGGGC	0.453000													41	134					0	0	0.014410	0	0
AGR2	10551	broad.mit.edu	37	7	16834567	16834567	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:16834567T>C	ENST00000419304.2	-	7	623	c.471A>G	c.(469-471)acA>acG	p.T157T	AGR2_ENST00000419572.2_Silent_p.T177T|AGR2_ENST00000401412.1_Silent_p.T157T	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	157					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TACACAGAGCTGTATCTGCAG	0.448000													14	49					0	0	0.004007	0	0
QRICH2	84074	broad.mit.edu	37	17	74283886	74283886	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:74283886G>A	ENST00000262765.5	-	6	3572	c.3393C>T	c.(3391-3393)gtC>gtT	p.V1131V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1131							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TTTACCTGAGGACACCCAGCT	0.557000													12	49					0	0	0.002450	0	0
R3HDM1	23518	broad.mit.edu	37	2	136409597	136409597	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:136409597C>T	ENST00000264160.4	+	17	2288	c.1918C>T	c.(1918-1920)Cca>Tca	p.P640S	R3HDM1_ENST00000409478.1_Missense_Mutation_p.P512S|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P641S|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P585S|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P511S	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	640							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GCAGCCATCACCACAGGTATA	0.443000													34	33					0	0	0.005524	0	0
BPIFB4	149954	broad.mit.edu	37	20	31688261	31688261	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:31688261A>G	ENST00000375483.3	+	12	1599	c.1599A>G	c.(1597-1599)acA>acG	p.T533T		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	533						cytoplasm|extracellular region	lipid binding										CATTTTCCACAGAAGGAGATA	0.527000													5	33					0	0	0.003163	0	0
ODAM	54959	broad.mit.edu	37	4	71068501	71068501	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:71068501A>G	ENST00000396094.2	+	9	725	c.677A>G	c.(676-678)cAa>cGa	p.Q226R		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	226					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CCATATTTACAAAAAGAAGCG	0.388000													7	13					0	0	0.003080	0	0
CRB1	23418	broad.mit.edu	37	1	197390711	197390711	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:197390711G>C	ENST00000367400.3	+	6	1888	c.1753G>C	c.(1753-1755)Gac>Cac	p.D585H	CRB1_ENST00000538660.1_Missense_Mutation_p.D585H|CRB1_ENST00000544212.1_Missense_Mutation_p.D66H|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.D516H|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.D473H	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	585	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTTAATCGACGACTCCTGTAA	0.453000													20	24					0	0	0.008871	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876847	39876847	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:39876847C>G	ENST00000530275.1	+	1	697	c.502C>G	c.(502-504)Cat>Gat	p.H168D	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	168										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCAGAATTGCATGTTCTCAT	0.522000											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	15					0	0	0.004482	0	0
DDX5	1655	broad.mit.edu	37	17	62499626	62499626	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:62499626A>C	ENST00000225792.5	-	6	972	c.571T>G	c.(571-573)Tgt>Ggt	p.C191G	DDX5_ENST00000578804.1_Missense_Mutation_p.C191G|DDX5_ENST00000450599.2_Missense_Mutation_p.C112G	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	191	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CATGCTCTACAATATTCAGCA	0.463000			T	ETV4	prostate								18	45					0	0	0.002780	0	0
ZFP82	284406	broad.mit.edu	37	19	36883875	36883875	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:36883875C>T	ENST00000392161.3	-	5	1609	c.1367G>A	c.(1366-1368)gGc>gAc	p.G456D	ZFP82_ENST00000392171.1_Missense_Mutation_p.G456D	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAGGCCTTGCCACATTCCTT	0.418000													14	9					0	0	0.001855	0	0
FBXO11	80204	broad.mit.edu	37	2	48061799	48061799	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:48061799C>T	ENST00000403359.3	-	7	925	c.853G>A	c.(853-855)Gat>Aat	p.D285N	FBXO11_ENST00000402508.1_Missense_Mutation_p.D201N|FBXO11_ENST00000316377.4_Missense_Mutation_p.D201N	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	285					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATAAGTCCATCAAAATGAGCC	0.328000			"""Mis, F, D"""		DLBCL								7	14					0	0	0.008291	0	0
RFWD2	64326	broad.mit.edu	37	1	176133011	176133011	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:176133011A>G	ENST00000367669.3	-	4	1096	c.582T>C	c.(580-582)ctT>ctC	p.L194L	RFWD2_ENST00000308769.8_Silent_p.L194L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	194					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCTTCTGTTTAAGAATGAGTT	0.289000													2	7					0	0	0.004672	0	0
MDC1	9656	broad.mit.edu	37	6	30672554	30672554	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:30672554G>T	ENST00000376406.3	-	10	5053	c.4406C>A	c.(4405-4407)cCt>cAt	p.P1469H	MDC1_ENST00000376405.2_Missense_Mutation_p.P1205H|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1469	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTGAGACGTAGGCTCAGGGGT	0.562000								Other conserved DNA damage response genes					81	108					4.21773e-46	4.92809e-46	0.014410	1	0
LLGL2	3993	broad.mit.edu	37	17	73569202	73569202	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:73569202C>T	ENST00000392550.3	+	20	2685	c.2568C>T	c.(2566-2568)gcC>gcT	p.A856A	LLGL2_ENST00000167462.5_Silent_p.A856A|LLGL2_ENST00000577200.1_Silent_p.A856A	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	856					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTCGTCGAGCCGAGGACTACG	0.657000													64	82					0	0	0.014410	0	0
ZNF233	353355	broad.mit.edu	37	19	44777421	44777421	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:44777421T>C	ENST00000391958.2	+	5	735	c.608T>C	c.(607-609)gTa>gCa	p.V203A	ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CAAATTGATGTAAAAAATAAG	0.378000													7	9					0	0	0.003080	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227259910	227259910	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:227259910C>T	ENST00000366769.3	-	20	4117	c.2826G>A	c.(2824-2826)aaG>aaA	p.K942K	CDC42BPA_ENST00000334218.5_Splice_Site_p.K942K|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366767.3_Splice_Site_p.K861K|CDC42BPA_ENST00000366765.3_Splice_Site_p.K942K|CDC42BPA_ENST00000535525.1_Splice_Site_p.K942K|CDC42BPA_ENST00000366766.2_Splice_Site_p.K942K|CDC42BPA_ENST00000366764.2_Splice_Site_p.K942K	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	942					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTCCCATACCCTTTTCAGATC	0.348000													8	18					0	0	0.010729	0	0
CIT	11113	broad.mit.edu	37	12	120288006	120288006	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:120288006G>T	ENST00000392521.2	-	5	543	c.488C>A	c.(487-489)gCc>gAc	p.A163D	CIT_ENST00000261833.7_Missense_Mutation_p.A163D	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	163	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GTCCTGAAAGGCATACTGTAA	0.428000													60	75					2.93416e-43	3.41933e-43	0.014410	1	0
MDN1	23195	broad.mit.edu	37	6	90422326	90422326	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:90422326G>A	ENST00000369393.3	-	48	7513	c.7398C>T	c.(7396-7398)aaC>aaT	p.N2466N	MDN1_ENST00000428876.1_Silent_p.N2466N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2466					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGCTCATCCTGTTGAGACAAT	0.468000													41	52					0	0	0.014410	0	0
ARRDC1	92714	broad.mit.edu	37	9	140508609	140508609	+	Silent	SNP	C	C	G	rs145510266		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:140508609C>G	ENST00000371421.4	+	5	625	c.561C>G	c.(559-561)gcC>gcG	p.A187A	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	187										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		AGCTGCATGCCGACGTTGAGA	0.642000													340	356					0	0	0.014410	0	0
SYNE2	23224	broad.mit.edu	37	14	64408416	64408416	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:64408416A>G	ENST00000358025.3	+	4	375	c.145A>G	c.(145-147)Act>Gct	p.T49A	SYNE2_ENST00000344113.4_Missense_Mutation_p.T49A|SYNE2_ENST00000341472.5_Missense_Mutation_p.T49A|SYNE2_ENST00000554584.1_Missense_Mutation_p.T49A|SYNE2_ENST00000356081.3_Missense_Mutation_p.T49A|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	49	Actin-binding.|CH 1.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTGCAGCACACTTCTCCCTC	0.373000													7	42					0	0	0.004482	0	0
FLVCR1	28982	broad.mit.edu	37	1	213032442	213032442	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:213032442C>T	ENST00000366971.4	+	1	846	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	216					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CCCAGGTGTTCATCCTGGGCT	0.607000													46	67					0	0	0.014410	0	0
SPEF2	79925	broad.mit.edu	37	5	35779431	35779431	+	Nonsense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:35779431T>G	ENST00000440995.2	+	30	4415	c.4415T>G	c.(4414-4416)tTa>tGa	p.L1472*	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_5'UTR|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.L1477*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1477					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATCAGTTCTTAGATATGGCA	0.398000													31	26					0	0	0.004878	0	0
PRG4	10216	broad.mit.edu	37	1	186280667	186280667	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:186280667G>A	ENST00000445192.2	+	10	3777	c.3732G>A	c.(3730-3732)gtG>gtA	p.V1244V	PRG4_ENST00000367484.3_Silent_p.V773V|PRG4_ENST00000367486.3_Silent_p.V1201V|PRG4_ENST00000367483.4_Silent_p.V1203V|PRG4_ENST00000367485.4_Silent_p.V1151V	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1244					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GACAAATAGTGGCAGCGCTTT	0.363000													7	16					0	0	0.003080	0	0
EPB41	2035	broad.mit.edu	37	1	29314319	29314319	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:29314319G>A	ENST00000343067.4	+	2	497	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000373798.1_Missense_Mutation_p.E124K|EPB41_ENST00000373797.1_Missense_Mutation_p.E124K|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.E124K|EPB41_ENST00000356093.2_Missense_Mutation_p.E124K|EPB41_ENST00000347529.3_Missense_Mutation_p.E124K	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	124					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CAGTCTTGATGAAGAGATCAT	0.423000													13	36					0	0	0.003163	0	0
ZNF329	79673	broad.mit.edu	37	19	58639356	58639356	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:58639356A>T	ENST00000598312.1	-	4	1748	c.1515T>A	c.(1513-1515)caT>caA	p.H505Q	ZNF329_ENST00000358067.4_Missense_Mutation_p.H505Q	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		CCTCCCTGCTATGGAGTCTCT	0.512000													64	83					0	0	0.014410	0	0
ZNF697	90874	broad.mit.edu	37	1	120166097	120166097	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:120166097A>T	ENST00000421812.2	-	3	988	c.869T>A	c.(868-870)cTg>cAg	p.L290Q		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GTCGGCGCACAGGTTGGGCCG	0.706000													21	17					0	0	0.004656	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41808694	41808694	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:41808694C>T	ENST00000392006.3	+	12	1985	c.1812C>T	c.(1810-1812)ccC>ccT	p.P604P	HNRNPUL1_ENST00000602130.1_Silent_p.P604P|HNRNPUL1_ENST00000352456.3_Silent_p.P504P|HNRNPUL1_ENST00000593587.1_Silent_p.P504P|HNRNPUL1_ENST00000595018.1_Silent_p.P504P|HNRNPUL1_ENST00000263367.3_Silent_p.P515P|HNRNPUL1_ENST00000378215.4_Silent_p.P490P	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	604	Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGGGCCACCCCCTGAAAAGC	0.627000													18	55					0	0	0.008871	0	0
SLFNL1	200172	broad.mit.edu	37	1	41486281	41486281	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:41486281C>T	ENST00000359345.1	-	1	2628	c.52G>A	c.(52-54)Gag>Aag	p.E18K	SLFNL1_ENST00000372613.2_Missense_Mutation_p.E18K|SLFNL1_ENST00000439569.2_Missense_Mutation_p.E18K|SLFNL1_ENST00000302946.8_Missense_Mutation_p.E18K|SLFNL1_ENST00000372611.1_Missense_Mutation_p.E18K|SLFNL1_ENST00000397197.2_Missense_Mutation_p.E18K	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	18							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CCCCAGGACTCCATGAAGGGC	0.607000													67	62					0	0	0.014410	0	0
LRRC47	57470	broad.mit.edu	37	1	3697775	3697775	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:3697775G>A	ENST00000378251.1	-	7	1656	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	543					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GGGAGGGCCCGTCCTTTCCAG	0.572000													43	101					0	0	0.014410	0	0
MYO1E	4643	broad.mit.edu	37	15	59548521	59548521	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:59548521G>A	ENST00000288235.4	-	4	693	c.294C>T	c.(292-294)aaC>aaT	p.N98N	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	98	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CAATGATCATGTTTCTGTACA	0.348000													10	26					0	0	0.001855	0	0
FASTKD1	79675	broad.mit.edu	37	2	170393745	170393745	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:170393745T>C	ENST00000453153.2	-	12	2526	c.2180A>G	c.(2179-2181)cAc>cGc	p.H727R	FASTKD1_ENST00000453929.2_Missense_Mutation_p.H684R|FASTKD1_ENST00000495505.1_Intron	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	727					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						ACCTACTTTGTGGTAATAAGG	0.333000													27	33					0	0	0.003755	0	0
AFF3	3899	broad.mit.edu	37	2	100343579	100343579	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:100343579C>T	ENST00000409236.2	-	9	1163	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	AFF3_ENST00000356421.2_Missense_Mutation_p.A376T|AFF3_ENST00000409579.1_Missense_Mutation_p.A376T|AFF3_ENST00000317233.4_Missense_Mutation_p.A351T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCTGGCTCTGCATCACCTTTC	0.353000													10	11					0	0	0.010729	0	0
NOTCH2	4853	broad.mit.edu	37	1	120529583	120529583	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:120529583C>T	ENST00000256646.2	-	5	1093	c.874G>A	c.(874-876)Gga>Aga	p.G292R		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	292	EGF-like 7; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTACATACCTGTCCATTGT	0.458000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				37	44					0	0	0.014410	0	0
NECAP1	25977	broad.mit.edu	37	12	8245362	8245362	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:8245362C>G	ENST00000339754.5	+	5	552	c.474C>G	c.(472-474)acC>acG	p.T158T		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	158					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		AAGGACAAACCATCAAGTTGT	0.403000													9	13					0	0	0.013537	0	0
FICD	11153	broad.mit.edu	37	12	108912880	108912880	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:108912880A>G	ENST00000552695.1	+	3	1240	c.1005A>G	c.(1003-1005)gtA>gtG	p.V335V	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	335	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						AGGAGTTTGTACAGTGGCTCA	0.542000													43	38					0	0	0.013114	0	0
RRP8	23378	broad.mit.edu	37	11	6621449	6621449	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:6621449C>T	ENST00000254605.6	-	7	1415	c.1298G>A	c.(1297-1299)gGg>gAg	p.G433E	RRP8_ENST00000534343.1_Missense_Mutation_p.G117E	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	433					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CAGAGGGGGCCCAGTCTTTTG	0.522000													24	21					0	0	0.007291	0	0
CLIC3	9022	broad.mit.edu	37	9	139890163	139890163	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:139890163C>G	ENST00000494426.1	-	2	339	c.80G>C	c.(79-81)cGg>cCg	p.R27P	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	27	GST N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CATGAAGAGCCGCTGGCAGGA	0.697000													11	31					0	0	0.002450	0	0
PKD1L1	168507	broad.mit.edu	37	7	47892757	47892757	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:47892757A>G	ENST00000289672.2	-	31	4978	c.4928T>C	c.(4927-4929)gTg>gCg	p.V1643A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1643					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATAAATCTGCACAATTGACTC	0.388000													24	70					0	0	0.005524	0	0
ZNF749	388567	broad.mit.edu	37	19	57956154	57956154	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:57956154C>G	ENST00000334181.4	+	3	1888	c.1638C>G	c.(1636-1638)caC>caG	p.H546Q	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TCATTCAACACAAGAGGATTG	0.463000													8	22					0	0	0.008291	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142513586	142513586	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:142513586C>G	ENST00000378004.3	+	19	2108	c.1753C>G	c.(1753-1755)Cgg>Ggg	p.R585G	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.R585G	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	585	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACCTGTCTCGGAAGAAGAG	0.537000													125	41					0	0	0.014410	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540952	133540952	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:133540952A>G	ENST00000409261.1	-	14	3805	c.3432T>C	c.(3430-3432)acT>acC	p.T1144T	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1144T|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1144							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTGGAAGGCGAGTTTTCAGTC	0.483000													13	49					0	0	0.003163	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113563350	113563350	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:113563350G>A	ENST00000358160.4	+	2	520	c.28G>A	c.(28-30)Gtg>Atg	p.V10M	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	10						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TTGTTTCCAGGTGATGAATGA	0.323000													9	20					0	0	0.006214	0	0
RB1	5925	broad.mit.edu	37	13	49050846	49050846	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:49050846A>T	ENST00000267163.4	+	25	2668	c.2530A>T	c.(2530-2532)Aag>Tag	p.K844*	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	844	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GACTTCTGAGAAGTTCCAGAA	0.363000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			5	4					0	0	0.001984	0	0
CSF2RB	1439	broad.mit.edu	37	22	37318275	37318275	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr22:37318275C>A	ENST00000262825.5	+	2	243	c.26C>A	c.(25-27)tCc>tAc	p.S9Y	CSF2RB_ENST00000406230.1_Missense_Mutation_p.S9Y|CSF2RB_ENST00000403662.3_Missense_Mutation_p.S9Y	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	9					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGGCTGCTCTCCATGGCCCTG	0.672000													20	6					4.22769e-11	4.54503e-11	0.006320	1	0
APC2	10297	broad.mit.edu	37	19	1462114	1462114	+	Silent	SNP	C	C	T	rs142142534		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:1462114C>T	ENST00000535453.1	+	13	3504	c.1791C>T	c.(1789-1791)atC>atT	p.I597I	APC2_ENST00000238483.4_Silent_p.I323I|C19orf25_ENST00000588427.1_Intron|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Silent_p.I597I			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	597					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCATCATCGAGAGCGGCG	0.667000													37	128					0	0	0.014410	0	0
PKP4	8502	broad.mit.edu	37	2	159517954	159517954	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:159517954G>A	ENST00000389757.3	+	13	2328	c.2203G>A	c.(2203-2205)Gac>Aac	p.D735N	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.D735N	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	735					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ATCCGATTACGACAGCAAGGT	0.572000										HNSCC(62;0.18)			28	140					0	0	0.004878	0	0
USP15	9958	broad.mit.edu	37	12	62785202	62785202	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:62785202G>A	ENST00000280377.5	+	16	2284	c.2226G>A	c.(2224-2226)agG>agA	p.R742R	USP15_ENST00000353364.3_Silent_p.R713R|USP15_ENST00000393654.3_Silent_p.R717R	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	742					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GGCAGCTTAGGCTAGATGGTA	0.343000													17	9					0	0	0.002780	0	0
ITIH5	80760	broad.mit.edu	37	10	7621948	7621948	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:7621948C>A	ENST00000256861.6	-	9	1266	c.1188G>T	c.(1186-1188)cgG>cgT	p.R396R	ITIH5_ENST00000446830.2_Silent_p.R178R|ITIH5_ENST00000397146.2_Silent_p.R396R|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Silent_p.R396R|ITIH5_ENST00000298441.6_Silent_p.R182R	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	396	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGGACACGCTCCGGTCTCCAA	0.632000													44	38					8.20599e-20	9.15442e-20	0.011902	1	0
EFCAB7	84455	broad.mit.edu	37	1	64021038	64021038	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:64021038T>C	ENST00000371088.4	+	9	1312	c.1066T>C	c.(1066-1068)Tgg>Cgg	p.W356R	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	356							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GGTGTTTGGATGGACTGGTGA	0.343000													34	22					0	0	0.014410	0	0
TOP2A	7153	broad.mit.edu	37	17	38560701	38560701	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:38560701C>A	ENST00000423485.1	-	18	2247	c.2089G>T	c.(2089-2091)Gac>Tac	p.D697Y		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	697					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTGATGAAGTCATTATATGTC	0.363000													9	20					0.010729	0.010876	0.010729	1	0
FOXRED2	80020	broad.mit.edu	37	22	36902136	36902136	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr22:36902136T>C	ENST00000397224.4	-	2	427	c.334A>G	c.(334-336)Aga>Gga	p.R112G	FOXRED2_ENST00000216187.6_Missense_Mutation_p.R112G|FOXRED2_ENST00000397223.4_Missense_Mutation_p.R112G	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	112					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAGTAGTGTCTGAAGAGCAGC	0.627000													96	52					0	0	0.014410	0	0
LYZ	4069	broad.mit.edu	37	12	69746950	69746950	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:69746950G>A	ENST00000261267.2	+	4	466	c.398G>A	c.(397-399)cGt>cAt	p.R133H	LYZ_ENST00000549690.1_Missense_Mutation_p.V107I	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	133					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TGGAGAAATCGTTGTCAAAAC	0.398000													27	40					0	0	0.013726	0	0
HEATR4	399671	broad.mit.edu	37	14	73964942	73964942	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:73964942G>T	ENST00000553558.1	-	14	2784	c.2463C>A	c.(2461-2463)atC>atA	p.I821I	HEATR4_ENST00000560393.1_Silent_p.I774I|HEATR4_ENST00000334988.2_Silent_p.I821I	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCAGGGCTAGGATGCTACGGC	0.537000													29	22					4.65686e-17	5.15623e-17	0.003755	1	0
CYP3A4	1576	broad.mit.edu	37	7	99375680	99375680	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:99375680T>G	ENST00000336411.2	-	3	372	c.189A>C	c.(187-189)gaA>gaC	p.E63D	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	63					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTTTATGACATTCCATGTCAA	0.368000													11	18					0	0	0.010729	0	0
LRRN2	10446	broad.mit.edu	37	1	204587882	204587882	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:204587882G>A	ENST00000367175.1	-	1	3451	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	LRRN2_ENST00000367177.3_Silent_p.F413F|LRRN2_ENST00000367176.3_Silent_p.F413F			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	413	LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TCATCTCCCGGAAGGGCACCT	0.662000													20	67					0	0	0.010504	0	0
DPYSL2	1808	broad.mit.edu	37	8	26509890	26509890	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:26509890C>T	ENST00000311151.5	+	12	1811	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	DPYSL2_ENST00000523027.1_Missense_Mutation_p.R431C|DPYSL2_ENST00000521913.1_Missense_Mutation_p.R431C	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	467					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGGCTCTGGACGCTACATTCC	0.522000													19	45					0	0	0.010504	0	0
NDRG4	65009	broad.mit.edu	37	16	58538110	58538110	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:58538110C>T	ENST00000394282.4	+	5	743	c.336C>T	c.(334-336)acC>acT	p.T112T	NDRG4_ENST00000569923.1_Silent_p.T5T|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000568640.1_Silent_p.T78T|NDRG4_ENST00000563799.1_Silent_p.T78T|NDRG4_ENST00000394279.2_Silent_p.T92T|NDRG4_ENST00000258187.5_Silent_p.T92T|NDRG4_ENST00000566192.1_Silent_p.T60T|NDRG4_ENST00000562999.1_Silent_p.T60T|NDRG4_ENST00000356752.4_Silent_p.T90T|NDRG4_ENST00000570248.1_Silent_p.T60T	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	60					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						AGGAGATCACCAAGCACTTTG	0.572000													39	179					0	0	0.008740	0	0
INSL4	3641	broad.mit.edu	37	9	5231528	5231528	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:5231528C>T	ENST00000239316.4	+	1	110	c.5C>T	c.(4-6)gCc>gTc	p.A2V		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	2					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		TCCAGGATGGCCAGCCTGTTC	0.557000													28	31					0	0	0.005524	0	0
PRPF18	8559	broad.mit.edu	37	10	13655788	13655788	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:13655788T>C	ENST00000378572.3	+	7	787	c.627T>C	c.(625-627)taT>taC	p.Y209Y		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	209					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						GAGAAGATTATGTGAAACGCA	0.453000													10	41					0	0	0.010729	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816717	67816717	+	Missense_Mutation	SNP	C	C	T	rs141780643		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:67816717C>T	ENST00000265686.3	+	15	1951	c.1843C>T	c.(1843-1845)Ctc>Ttc	p.L615F	TCIRG1_ENST00000532635.1_Missense_Mutation_p.L399F	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	615					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CAACATGTTCCTCTTCTCCCA	0.657000													51	175					0	0	0.014410	0	0
FNDC3B	64778	broad.mit.edu	37	3	172064198	172064198	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:172064198A>T	ENST00000336824.4	+	20	2431	c.2332A>T	c.(2332-2334)Aca>Tca	p.T778S	FNDC3B_ENST00000415807.2_Missense_Mutation_p.T778S|FNDC3B_ENST00000416957.1_Missense_Mutation_p.T778S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	778	Fibronectin type-III 6.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TATTTCTTGTACACCTGATGG	0.423000													17	68					0	0	0.002780	0	0
AP4B1	10717	broad.mit.edu	37	1	114442966	114442966	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:114442966T>C	ENST00000369569.1	-	5	954	c.674A>G	c.(673-675)tAc>tGc	p.Y225C	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.Y225C|AP4B1_ENST00000369566.3_Missense_Mutation_p.Y132C|AP4B1_ENST00000369567.1_Missense_Mutation_p.Y57C	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	225					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGGGGTTGGTAGCGTAGCAG	0.423000													21	29					0	0	0.006320	0	0
GPR97	222487	broad.mit.edu	37	16	57719645	57719645	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:57719645C>T	ENST00000333493.4	+	11	1508	c.1347C>T	c.(1345-1347)gtC>gtT	p.V449V	GPR97_ENST00000450388.3_Silent_p.V329V|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Silent_p.V239V	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	449					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCATGGTGGTCCTGGCCCTGG	0.592000													21	80					0	0	0.010504	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785276	1785276	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:1785276G>C	ENST00000539485.1	-	27	3677	c.3444C>G	c.(3442-3444)taC>taG	p.Y1148*	ATP8B3_ENST00000310127.6_Nonsense_Mutation_p.Y1138*|ATP8B3_ENST00000525591.1_Nonsense_Mutation_p.Y1101*			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1138					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCGGTCCAGTACTTGATGA	0.607000													4	27					0	0	0.001168	0	0
XIRP2	129446	broad.mit.edu	37	2	168100156	168100156	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:168100156C>T	ENST00000409195.1	+	9	2343	c.2254C>T	c.(2254-2256)Ctg>Ttg	p.L752L	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.L530L|XIRP2_ENST00000295237.9_Silent_p.L752L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	577					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGGCCAAATGCTGGAAATTAA	0.368000													4	24					0	0	0.000602	0	0
UROC1	131669	broad.mit.edu	37	3	126220791	126220791	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:126220791C>G	ENST00000383579.3	-	10	936	c.903G>C	c.(901-903)agG>agC	p.R301S	UROC1_ENST00000290868.2_Intron	NM_001165974.1	NP_001159446.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	301					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCTGAAGGACCCTGTGGGAAC	0.607000													5	61					0	0	0.000602	0	0
ITGA2B	3674	broad.mit.edu	37	17	42455071	42455071	+	Missense_Mutation	SNP	C	C	A	rs146445219		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:42455071C>A	ENST00000262407.5	-	21	2213	c.2182G>T	c.(2182-2184)Gcc>Tcc	p.A728S	ITGA2B_ENST00000353281.4_Missense_Mutation_p.A728S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	728					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CTCACCTGGGCGTTCTTCTTC	0.542000													12	51					0.000308642	0.000315028	0.003163	1	0
NIM1K	167359	broad.mit.edu	37	5	43277375	43277375	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:43277375A>T	ENST00000512796.1	+	3	2008	c.509A>T	c.(508-510)gAa>gTa	p.E170V	NIM1_ENST00000326035.2_Missense_Mutation_p.E170V			Q8IY84	NIM1_HUMAN		170	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										AAGCTCTCTGAACCAGAAAGC	0.532000													29	77					0	0	0.006230	0	0
CPAMD8	27151	broad.mit.edu	37	19	17012070	17012070	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:17012070C>G	ENST00000443236.1	-	36	4895	c.4864G>C	c.(4864-4866)Gag>Cag	p.E1622Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1575						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGGGGCACCTCCAGGACAGCC	0.607000													21	25					0	0	0.004656	0	0
PLA2R1	22925	broad.mit.edu	37	2	160876633	160876633	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:160876633A>G	ENST00000283243.7	-	8	1642	c.1436T>C	c.(1435-1437)gTc>gCc	p.V479A	PLA2R1_ENST00000392771.1_Missense_Mutation_p.V479A	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	479	C-type lectin 2.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTCTGCTGAGACACACAGCTG	0.453000													12	20					0	0	0.002450	0	0
KCTD2	23510	broad.mit.edu	37	17	73043506	73043506	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:73043506C>T	ENST00000322444.6	+	1	167	c.161C>T	c.(160-162)cCg>cTg	p.P54L	KCTD2_ENST00000584767.1_Intron|KCTD2_ENST00000581589.1_Intron	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	54				P -> R (in Ref. 1; BAA11493).		voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					gtcgcgcagccgctggagccg	0.811000													8	5					0	0	0.003080	0	0
FBLN2	2199	broad.mit.edu	37	3	13659771	13659771	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:13659771G>T	ENST00000404922.3	+	6	2044	c.1925G>T	c.(1924-1926)cGc>cTc	p.R642L	FBLN2_ENST00000492059.1_Missense_Mutation_p.R642L|FBLN2_ENST00000295760.7_Missense_Mutation_p.R642L|FBLN2_ENST00000535798.1_Missense_Mutation_p.R668L	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	642	EGF-like 1; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GACGATGGCCGCACTTGCCGC	0.617000													19	50					3.62473e-10	3.85019e-10	0.012319	1	0
ALX1	8092	broad.mit.edu	37	12	85694982	85694982	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:85694982C>A	ENST00000316824.3	+	4	865	c.710C>A	c.(709-711)aCt>aAt	p.T237N		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	237					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TCTGTGGTTACTTCATGCATG	0.408000													30	39					1.04594e-18	1.1639e-18	0.006230	1	0
ZNF28	7576	broad.mit.edu	37	19	53311303	53311303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:53311303G>T	ENST00000457749.2	-	3	218	c.99C>A	c.(97-99)taC>taA	p.Y33*	ZNF28_ENST00000594602.1_Nonsense_Mutation_p.Y33*|ZNF28_ENST00000339844.6_5'UTR|ZNF28_ENST00000360272.4_5'UTR|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000464469.2_5'UTR	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TCACATCCCTGTAAAGAGTCC	0.483000													7	77					5.18039e-06	5.34906e-06	0.003080	1	0
SLC30A7	148867	broad.mit.edu	37	1	101362198	101362198	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:101362198G>A	ENST00000370112.4	+	2	340	c.153G>A	c.(151-153)gtG>gtA	p.V51V	SLC30A7_ENST00000357650.4_Silent_p.V51V	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	51					zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TCGCTTTTGTGGAACTACTCT	0.502000													7	19					0	0	0.003080	0	0
IGHE	3497	broad.mit.edu	37	14	106066348	106066348	+	RNA	SNP	T	T	C	rs1134594		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:106066348T>C	ENST00000412518.1	-	0	28				IGHE_ENST00000576077.1_RNA|IGHE_ENST00000577108.1_RNA																							GTCTGGCCAGTCCTCCCCACT	0.597000													12	185					0	0	0.010504	0	0
MAPRE2	10982	broad.mit.edu	37	18	32621508	32621508	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:32621508C>T	ENST00000300249.5	+	1	185	c.5C>T	c.(4-6)cCt>cTt	p.P2L	MAPRE2_ENST00000436190.2_Intron|MAPRE2_ENST00000588910.1_Missense_Mutation_p.P2L|MAPRE2_ENST00000413393.1_Intron|MAPRE2_ENST00000538170.2_5'UTR	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	2					cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						GCGCCAATGCCTGGGCCGACC	0.612000													75	83					0	0	0.014410	0	0
OR4A16	81327	broad.mit.edu	37	11	55111294	55111294	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:55111294G>A	ENST00000314721.2	+	1	668	c.618G>A	c.(616-618)atG>atA	p.M206I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TAATTTGTATGGTCATCTTTA	0.438000													15	86					0	0	0.002450	0	0
AGO1	26523	broad.mit.edu	37	1	36367599	36367599	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:36367599C>A	ENST00000373204.4	+	10	1404	c.1191C>A	c.(1189-1191)atC>atA	p.I397I	AGO1_ENST00000373206.1_Silent_p.I322I	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		AATTTGGGATCAAAGTGAAGG	0.542000													38	64					1.22674e-20	1.37198e-20	0.008740	1	0
PAH	5053	broad.mit.edu	37	12	103246694	103246694	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:103246694G>A	ENST00000553106.1	-	7	1213	c.741C>T	c.(739-741)ggC>ggT	p.G247G	PAH_ENST00000307000.2_Silent_p.G242G	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	247			G -> V (in PKU; haplotype 4).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AGGAAAGCAGGCCAGCCACAG	0.537000													11	18					0	0	0.003163	0	0
MAST2	23139	broad.mit.edu	37	1	46497147	46497147	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:46497147C>A	ENST00000361297.2	+	24	3360	c.3077C>A	c.(3076-3078)gCc>gAc	p.A1026D	MAST2_ENST00000372009.2_Missense_Mutation_p.A956D	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1026					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GTGCGTAGGGCCCGCCACCGG	0.627000													32	96					1.57351e-24	1.7732e-24	0.003755	1	0
ITPR3	3710	broad.mit.edu	37	6	33623613	33623613	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:33623613T>C	ENST00000374316.5	+	4	1291	c.231T>C	c.(229-231)acT>acC	p.T77T	ITPR3_ENST00000605930.1_Silent_p.T77T			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	77					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCAAGCAGACTAAGCAGGACA	0.572000													52	71					0	0	0.014410	0	0
ICOSLG	23308	broad.mit.edu	37	21	45656811	45656811	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr21:45656811C>A	ENST00000407780.3	-	3	472	c.345G>T	c.(343-345)gtG>gtT	p.V115V	ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Silent_p.V115V|ICOSLG_ENST00000344330.4_Silent_p.V115V	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	115	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		ATTGGCTCAACACCAGGCAGT	0.607000													57	90					7.75977e-34	8.90268e-34	0.014410	1	0
STON1	11037	broad.mit.edu	37	2	48809237	48809237	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:48809237A>G	ENST00000309835.3	+	1	1475	c.1465A>G	c.(1465-1467)Aag>Gag	p.K489E	STON1_ENST00000404752.1_Missense_Mutation_p.K489E|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.K489E|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.K489E|STON1_ENST00000406226.1_Missense_Mutation_p.K489E|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.K489E|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.K489E|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.K489E					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCATTTTCATAAGTGTGTGAA	0.378000													17	14					0	0	0.004007	0	0
CUL9	23113	broad.mit.edu	37	6	43156452	43156452	+	Splice_Site	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:43156452A>C	ENST00000252050.4	+	8	2263	c.2179A>C	c.(2179-2181)Aga>Cga	p.R727R	CUL9_ENST00000354495.3_Splice_Site_p.R617R|CUL9_ENST00000372647.2_Splice_Site_p.R727R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	727					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGATCGCTGAGGTTAGCATA	0.552000													34	67					0	0	0.013114	0	0
MYH11	4629	broad.mit.edu	37	16	15818266	15818266	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:15818266G>C	ENST00000452625.2	-	32	4225	c.4138C>G	c.(4138-4140)Ctc>Gtc	p.L1380V	NDE1_ENST00000396354.1_3'UTR|NDE1_ENST00000571896.1_3'UTR|NDE1_ENST00000396355.1_3'UTR|MYH11_ENST00000396324.3_Splice_Site_p.L1380V|MYH11_ENST00000576790.2_Splice_Site_p.L1373V|MYH11_ENST00000300036.5_Splice_Site_p.L1373V|NDE1_ENST00000342673.5_3'UTR	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1373					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAGTCGGAGAGCTACAAGGAC	0.582000			T	CBFB	AML								14	45					0	0	0.004007	0	0
DCHS1	8642	broad.mit.edu	37	11	6652344	6652344	+	Silent	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:6652344T>A	ENST00000299441.3	-	9	4281	c.3870A>T	c.(3868-3870)acA>acT	p.T1290T	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1290	Cadherin 12.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		GAGCACTCAGTGTCAGCACAT	0.622000													13	21					0	0	0.004007	0	0
FZR1	51343	broad.mit.edu	37	19	3534500	3534500	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:3534500C>T	ENST00000441788.2	+	13	1665	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	FZR1_ENST00000313639.8_Missense_Mutation_p.R388C|FZR1_ENST00000395095.3_Missense_Mutation_p.R477C	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	477					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGCAAAACCCGTTCGACAAA	0.627000													4	12					0	0	0.009096	0	0
NRXN2	9379	broad.mit.edu	37	11	64480980	64480980	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:64480980C>A	ENST00000265459.6	-	2	653	c.192G>T	c.(190-192)gcG>gcT	p.A64A	NRXN2_ENST00000377559.3_Silent_p.A64A|NRXN2_ENST00000377551.1_Silent_p.A64A|NRXN2_ENST00000409571.1_Silent_p.A64A	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	64	Laminin G-like 1.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGAGCAGCAGCGCGCGCGTGG	0.751000													13	5					2.35188e-11	2.53455e-11	0.006122	1	0
ITGA2B	3674	broad.mit.edu	37	17	42455070	42455070	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:42455070G>T	ENST00000262407.5	-	21	2214	c.2183C>A	c.(2182-2184)gCc>gAc	p.A728D	ITGA2B_ENST00000353281.4_Missense_Mutation_p.A728D	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	728					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CCTCACCTGGGCGTTCTTCTT	0.542000													12	49					1.52009e-12	1.65017e-12	0.003163	1	0
YIPF1	54432	broad.mit.edu	37	1	54354635	54354635	+	Silent	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:54354635T>A	ENST00000539954.1	-	2	208	c.51A>T	c.(49-51)atA>atT	p.I17I	YIPF1_ENST00000072644.1_5'UTR|YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000469457.1_5'UTR			Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	0						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TTCTCCCAATTATGAGGAAGA	0.363000													21	16					0	0	0.002780	0	0
RANBP2	5903	broad.mit.edu	37	2	109380497	109380497	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:109380497G>T	ENST00000283195.6	+	20	3628	c.3502G>T	c.(3502-3504)Gac>Tac	p.D1168Y		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1168					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGATGATGATGACGGTCCTCA	0.443000													8	63					1.12685e-05	1.15815e-05	0.004482	1	0
C7	730	broad.mit.edu	37	5	40972587	40972587	+	Silent	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:40972587G>C	ENST00000313164.9	+	15	2324	c.1965G>C	c.(1963-1965)gtG>gtC	p.V655V		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	655	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.V655V(1)					Ovarian(839;0.0112)				GTGAGAAGGTGACTGTTTCCT	0.473000													7	70					0	0	0.003080	0	0
SSTR1	6751	broad.mit.edu	37	14	38679681	38679681	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:38679681T>C	ENST00000267377.2	+	3	1704	c.1087T>C	c.(1087-1089)Tac>Cac	p.Y363H		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	363					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GAGCCGTGCCTACAGTGTGGA	0.617000													118	62					0	0	0.014410	0	0
THAP11	57215	broad.mit.edu	37	16	67876805	67876805	+	Silent	SNP	A	A	G	rs28434205	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:67876805A>G	ENST00000303596.1	+	1	593	c.348A>G	c.(346-348)caA>caG	p.Q116Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	116	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	p.Q116Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		aacagcagcaacagcagcagc	0.682000													20	128					0	0	0.010504	0	0
OCIAD1	54940	broad.mit.edu	37	4	48859275	48859275	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:48859275C>G	ENST00000381473.3	+	8	1011	c.593C>G	c.(592-594)aCa>aGa	p.T198R	OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000264312.7_Missense_Mutation_p.T198R|OCIAD1_ENST00000444354.2_Intron|OCIAD1_ENST00000396448.2_Intron|OCIAD1_ENST00000509122.1_Missense_Mutation_p.T171R|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000508293.1_Missense_Mutation_p.T198R|OCIAD1_ENST00000513391.2_Missense_Mutation_p.T198R|OCIAD1_ENST00000425583.2_Intron	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	198						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AAAAATATTACATATGAGGAA	0.333000													5	6					0	0	0.001984	0	0
SERINC1	57515	broad.mit.edu	37	6	122775333	122775333	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:122775333A>G	ENST00000339697.4	-	4	498	c.414T>C	c.(412-414)atT>atC	p.I138I		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1						phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AGAATGCCCCAATAATAATTG	0.249000													5	6					0	0	0.003080	0	0
ABCA1	19	broad.mit.edu	37	9	107593948	107593948	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:107593948C>T	ENST00000374736.3	-	13	2064	c.1670G>A	c.(1669-1671)cGa>cAa	p.R557Q		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	557					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AATGTCCATTCGGATCTTGTA	0.488000													13	14					0	0	0.001855	0	0
LPO	4025	broad.mit.edu	37	17	56327935	56327935	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:56327935C>G	ENST00000262290.4	+	7	1049	c.733C>G	c.(733-735)Cag>Gag	p.Q245E	LPO_ENST00000582328.1_Missense_Mutation_p.Q162E|LPO_ENST00000421678.2_Missense_Mutation_p.Q162E|LPO_ENST00000543544.1_Missense_Mutation_p.Q186E	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	245					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CTCCAAAGCCCAGTGTGATGA	0.557000													37	27					0	0	0.010771	0	0
CIT	11113	broad.mit.edu	37	12	120288005	120288005	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:120288005G>T	ENST00000392521.2	-	5	544	c.489C>A	c.(487-489)gcC>gcA	p.A163A	CIT_ENST00000261833.7_Silent_p.A163A	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	163	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGTCCTGAAAGGCATACTGTA	0.428000													60	75					4.00405e-42	4.64177e-42	0.014410	1	0
TRIM31	11074	broad.mit.edu	37	6	30071549	30071549	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:30071549C>T	ENST00000376734.3	-	9	1167	c.1042G>A	c.(1042-1044)Ggg>Agg	p.G348R	TRIM31_ENST00000540829.1_Missense_Mutation_p.G348R	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	348						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TTTGGTGGCCCCGATGTAGTT	0.567000													42	128					0	0	0.014410	0	0
PHLPP2	23035	broad.mit.edu	37	16	71706188	71706188	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:71706188C>A	ENST00000393524.2	-	9	2242	c.1509G>T	c.(1507-1509)ctG>ctT	p.L503L	PHLPP2_ENST00000568954.1_Silent_p.L503L|PHLPP2_ENST00000360429.3_Silent_p.L503L|PHLPP2_ENST00000567016.1_Silent_p.L538L|PHLPP2_ENST00000356272.3_Silent_p.L503L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	503						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGAAAGTGAGCAGGCTGGGTA	0.438000													11	26					2.48551e-13	2.71814e-13	0.004990	1	0
KIAA1324	57535	broad.mit.edu	37	1	109731742	109731742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:109731742G>A	ENST00000369939.3	+	10	1457	c.1274G>A	c.(1273-1275)tGg>tAg	p.W425*	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.W338*	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	425					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GAATACAAATGGTGGAACACG	0.527000													30	30					0	0	0.003271	0	0
HSD17B14	51171	broad.mit.edu	37	19	49316713	49316713	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:49316713C>T	ENST00000263278.4	-	8	905	c.639G>A	c.(637-639)caG>caA	p.Q213Q	HSD17B14_ENST00000599157.1_Splice_Site_p.Q189Q	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	213					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CCACTTCTACCTGGGCCAGCA	0.607000													6	3					0	0	0.004482	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6086641	6086641	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:6086641T>C	ENST00000199389.6	-	5	677	c.531A>G	c.(529-531)ggA>ggG	p.G177G	EIF2AK1_ENST00000536084.1_Silent_p.G53G	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	177	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CTCTTCCGTATCCACCTTTTC	0.333000													33	15					0	0	0.009718	0	0
KDM6A	7403	broad.mit.edu	37	X	44922670	44922670	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chrX:44922670A>T	ENST00000377967.4	+	16	1572	c.1531A>T	c.(1531-1533)Aga>Tga	p.R511*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R518*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R432*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R466*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	511					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTGACAGATGAGACCAACAGG	0.433000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								42	8					0	0	0.014410	0	0
FZD7	8324	broad.mit.edu	37	2	202899544	202899544	+	Silent	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:202899544G>C	ENST00000286201.1	+	1	235	c.174G>C	c.(172-174)acG>acC	p.T58T		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	58	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGCTGTGCACGGACATCGCCT	0.672000													61	188					0	0	0.014410	0	0
SV2B	9899	broad.mit.edu	37	15	91769791	91769791	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:91769791G>T	ENST00000394232.1	+	2	768	c.298G>T	c.(298-300)Gat>Tat	p.D100Y	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.D100Y|SV2B_ENST00000545111.2_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	100					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GACCATCATGGATGAGTGTGG	0.587000													14	33					4.36969e-10	4.63041e-10	0.001855	1	0
EPHA2	1969	broad.mit.edu	37	1	16456035	16456035	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:16456035G>T	ENST00000358432.5	-	16	2873	c.2719C>A	c.(2719-2721)Cgc>Agc	p.R907S		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	907	Negatively regulates interaction with ARHGEF16.|SAM.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GACACCGTGCGGAAGGGCACC	0.637000													74	59					1.66795e-42	1.93866e-42	0.014410	1	0
REN	5972	broad.mit.edu	37	1	204124152	204124152	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:204124152C>T	ENST00000367195.2	-	9	1247	c.1204G>A	c.(1204-1206)Gcc>Acc	p.A402T	REN_ENST00000272190.8_Missense_Mutation_p.A405T			P00797	RENI_HUMAN	renin	405					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CCTCAGCGGGCCAAGGCGAAG	0.647000													18	66					0	0	0.003330	0	0
RAD51C	5889	broad.mit.edu	37	17	56780655	56780655	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:56780655T>C	ENST00000337432.4	+	4	741	c.670T>C	c.(670-672)Tat>Cat	p.Y224H	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.Y224H	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	224					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCACAAGTTTATCTTCTTCC	0.348000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				10	27					0	0	0.013537	0	0
ZZZ3	26009	broad.mit.edu	37	1	78050334	78050334	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:78050334C>T	ENST00000370801.3	-	6	1987	c.1512G>A	c.(1510-1512)caG>caA	p.Q504Q	ZZZ3_ENST00000370798.1_Silent_p.Q10Q|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GTAATAGTCTCTGATAACTAC	0.373000													7	17					0	0	0.003080	0	0
FSTL5	56884	broad.mit.edu	37	4	162697123	162697123	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:162697123G>A	ENST00000306100.5	-	5	949	c.513C>T	c.(511-513)gaC>gaT	p.D171D	FSTL5_ENST00000379164.4_Silent_p.D170D|FSTL5_ENST00000427802.2_Silent_p.D170D|FSTL5_ENST00000536695.1_Silent_p.D170D	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	171						extracellular region	calcium ion binding	p.D171D(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GAGATATGTCGTCGCCATTAG	0.303000													5	9					0	0	0.000602	0	0
WASF2	10163	broad.mit.edu	37	1	27745578	27745578	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:27745578C>T	ENST00000430629.2	-	3	357	c.142G>A	c.(142-144)Gag>Aag	p.E48K	WASF2_ENST00000536657.1_Missense_Mutation_p.E48K	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	48					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AAAATGTCCTCTGCATATTTA	0.443000													7	35					0	0	0.008291	0	0
FUZ	80199	broad.mit.edu	37	19	50315535	50315535	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:50315535T>C	ENST00000313777.4	-	3	454	c.291A>G	c.(289-291)agA>agG	p.R97R	FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000526575.1_Intron|FUZ_ENST00000445575.2_Silent_p.R97R|FUZ_ENST00000528094.1_Intron|FUZ_ENST00000533418.1_Silent_p.R47R	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	97					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TTTGGAGTAGTCTCTCCAGCC	0.507000													8	16					0	0	0.004482	0	0
GUSB	2990	broad.mit.edu	37	7	65439384	65439384	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:65439384A>C	ENST00000304895.4	-	8	1419	c.1289T>G	c.(1288-1290)aTg>aGg	p.M430R	GUSB_ENST00000421103.1_Missense_Mutation_p.M284R|GUSB_ENST00000345660.6_Missense_Mutation_p.M379R	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	430					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CACTTCTTCCATCACCTGCAT	0.607000													126	183					0	0	0.014410	0	0
MDN1	23195	broad.mit.edu	37	6	90353822	90353822	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:90353822A>G	ENST00000369393.3	-	102	16808	c.16693T>C	c.(16693-16695)Tac>Cac	p.Y5565H	MDN1_ENST00000428876.1_Missense_Mutation_p.Y5565H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5565	VWFA.				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATGATATAGTATGGGAATGGG	0.448000													12	46					0	0	0.002450	0	0
ATXN3	4287	broad.mit.edu	37	14	92555135	92555135	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:92555135C>G	ENST00000545170.1	-	6	482	c.414G>C	c.(412-414)acG>acC	p.T138T	ATXN3_ENST00000340660.6_Silent_p.T83T|ATXN3_ENST00000502250.1_5'UTR|ATXN3_ENST00000503767.1_Silent_p.T123T|ATXN3_ENST00000532032.1_Silent_p.T138T|ATXN3_ENST00000429774.2_Silent_p.T123T|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_Silent_p.T138T	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	138	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		ATTCTGGACCCGTCAAGAGAG	0.318000													59	43					0	0	0.014410	0	0
S1PR5	53637	broad.mit.edu	37	19	10625203	10625203	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:10625203G>A	ENST00000439028.3	-	2	610	c.485C>T	c.(484-486)tCg>tTg	p.S162L	S1PR5_ENST00000333430.4_Missense_Mutation_p.S162L	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	162						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						GAGGAGCAGCGACACGCCCCA	0.726000													9	9					0	0	0.010729	0	0
GRIN1	2902	broad.mit.edu	37	9	140052946	140052946	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:140052946G>T	ENST00000371561.3	+	7	2181	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.V362L|GRIN1_ENST00000371555.4_Missense_Mutation_p.V383L|GRIN1_ENST00000350902.5_Missense_Mutation_p.V362L|GRIN1_ENST00000371560.3_Missense_Mutation_p.V383L|GRIN1_ENST00000371546.4_Missense_Mutation_p.V383L|GRIN1_ENST00000371550.4_Missense_Mutation_p.V362L|GRIN1_ENST00000371553.3_Missense_Mutation_p.V383L|GRIN1_ENST00000315048.3_Missense_Mutation_p.V362L	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	362					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCGCAAGCTGGTGCAAGTGGG	0.617000													25	80					1.16021e-09	1.22359e-09	0.007291	1	0
POLH	5429	broad.mit.edu	37	6	43571701	43571701	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:43571701C>T	ENST00000372236.4	+	7	1132	c.837C>T	c.(835-837)acC>acT	p.T279T	POLH_ENST00000372226.1_Silent_p.T279T|POLH_ENST00000535400.1_Silent_p.T217T	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	279					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GTGAACTGACCCAGTTCACTG	0.408000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				14	23					0	0	0.007413	0	0
TMBIM4	51643	broad.mit.edu	37	12	66531850	66531850	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:66531850G>A	ENST00000358230.3	-	7	727	c.607C>T	c.(607-609)Cat>Tat	p.H203Y	TMBIM4_ENST00000542724.1_Missense_Mutation_p.H172Y|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000286424.7_Missense_Mutation_p.H250Y|TMBIM4_ENST00000544599.1_Missense_Mutation_p.H26Y	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	203						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		GACAGTTTATGCATCAGTGAG	0.413000													8	33					0	0	0.008291	0	0
WNK1	65125	broad.mit.edu	37	12	994164	994164	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:994164C>T	ENST00000537687.1	+	19	5617	c.4974C>T	c.(4972-4974)ctC>ctT	p.L1658L	WNK1_ENST00000535572.1_Silent_p.L1151L|WNK1_ENST00000315939.6_Silent_p.L1398L|WNK1_ENST00000530271.2_Silent_p.L1896L|WNK1_ENST00000340908.4_Silent_p.L991L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1398					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAGGTGGTCTCCCCATACCAC	0.478000													34	34					0	0	0.004878	0	0
DHX34	9704	broad.mit.edu	37	19	47879304	47879304	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:47879304C>T	ENST00000328771.4	+	11	2780	c.2431C>T	c.(2431-2433)Cag>Tag	p.Q811*		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	811						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCTGTACCCACAGCTGGCCGT	0.657000													31	97					0	0	0.006999	0	0
CHD3	1107	broad.mit.edu	37	17	7788214	7788214	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:7788214G>C	ENST00000380358.4	+	1	91	c.90G>C	c.(88-90)gaG>gaC	p.E30D	LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	445					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				agggcgacgaggaggaggagg	0.682000													2	3					0	0	0.004672	0	0
PRKDC	5591	broad.mit.edu	37	8	48817520	48817520	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:48817520T>C	ENST00000314191.2	-	26	3007	c.2951A>G	c.(2950-2952)tAt>tGt	p.Y984C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Y984C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	984					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TAGTGGCTCATACAGTTGCCT	0.358000								Non-homologous end-joining					19	19					0	0	0.003330	0	0
TOP2A	7153	broad.mit.edu	37	17	38556598	38556598	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:38556598T>C	ENST00000423485.1	-	23	3021	c.2863A>G	c.(2863-2865)Aca>Gca	p.T955A		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	955					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTATAGTCTGTTATGAGAGGA	0.378000													11	15					0	0	0.001855	0	0
CR1	1378	broad.mit.edu	37	1	207679368	207679368	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:207679368C>G	ENST00000367049.4	+	2	241	c.241C>G	c.(241-243)Ccg>Gcg	p.P81A	CR1_ENST00000367051.1_Missense_Mutation_p.P81A|CR1_ENST00000367052.1_Missense_Mutation_p.P81A|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367053.1_Missense_Mutation_p.P81A|CR1_ENST00000400960.2_Missense_Mutation_p.P81A	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	81	Sushi 1.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTCCGGAAGACCGTTTTCTAT	0.473000													8	44					0	0	0.004482	0	0
NELL2	4753	broad.mit.edu	37	12	44917077	44917077	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:44917077A>G	ENST00000429094.2	-	17	2499	c.1995T>C	c.(1993-1995)tgT>tgC	p.C665C	NELL2_ENST00000549027.1_Silent_p.C664C|NELL2_ENST00000452445.2_Silent_p.C665C|NELL2_ENST00000395487.2_Silent_p.C664C|NELL2_ENST00000551601.1_Silent_p.C617C|NELL2_ENST00000437801.2_Silent_p.C715C|NELL2_ENST00000333837.4_Silent_p.C688C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	665	VWFC 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TACCAACCTGACATGAGCACA	0.358000													35	65					0	0	0.004289	0	0
CC2D1B	200014	broad.mit.edu	37	1	52821951	52821951	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:52821951C>G	ENST00000371586.2	-	18	2117	c.1979G>C	c.(1978-1980)cGc>cCc	p.R660P	CC2D1B_ENST00000438831.1_Missense_Mutation_p.R35P|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.R654P	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	660										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTGTTTCTTGCGGTCCTGAGC	0.567000													39	126					0	0	0.008740	0	0
IBTK	25998	broad.mit.edu	37	6	82936933	82936933	+	Silent	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:82936933T>G	ENST00000306270.7	-	5	1179	c.630A>C	c.(628-630)ggA>ggC	p.G210G	IBTK_ENST00000503631.1_Silent_p.G210G|IBTK_ENST00000510291.1_Silent_p.G210G	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	210					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CATCTCCATGTCCTAATCGCC	0.378000													26	47					0	0	0.012213	0	0
SLC1A2	6506	broad.mit.edu	37	11	35287040	35287040	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:35287040T>C	ENST00000606205.1	-	10	1790	c.1687A>G	c.(1687-1689)Ata>Gta	p.I563V	SLC1A2_ENST00000278379.3_Intron|SLC1A2_ENST00000395753.1_Intron|SLC1A2_ENST00000479543.1_Intron|SLC1A2_ENST00000395750.1_Intron			P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	0				CSV -> RVL (in Ref. 3; CAA83532).	D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CACTACTATATACAAGTCTCG	0.353000													5	17					0	0	0.000602	0	0
XIRP2	129446	broad.mit.edu	37	2	168100155	168100155	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:168100155G>A	ENST00000409195.1	+	9	2342	c.2253G>A	c.(2251-2253)atG>atA	p.M751I	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.M529I|XIRP2_ENST00000295237.9_Missense_Mutation_p.M751I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	576					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CGGGCCAAATGCTGGAAATTA	0.368000													4	24					0	0	0.000602	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337541	22337541	+	RNA	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:22337541C>G	ENST00000390436.2	+	0	355																											TTCTGTGCAGCAAGTACACAT	0.488000													17	25					0	0	0.012319	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769651	31769651	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:31769651C>T	ENST00000240587.4	-	2	1375	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	350					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGAAGTGCATCGTTGGTGTCT	0.567000													36	117					0	0	0.009718	0	0
NLRP6	171389	broad.mit.edu	37	11	285201	285201	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:285201A>G	ENST00000534750.1	+	8	2778	c.2573A>G	c.(2572-2574)cAg>cGg	p.Q858R	NLRP6_ENST00000312165.5_Missense_Mutation_p.Q859R	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	859						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGTCACTACAGGAGCTTCAG	0.622000													7	14					0	0	0.006214	0	0
ZNF548	147694	broad.mit.edu	37	19	57910511	57910511	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:57910511T>C	ENST00000366197.5	+	3	1106	c.856T>C	c.(856-858)Tgt>Cgt	p.C286R	ZNF548_ENST00000336128.7_Missense_Mutation_p.C298R|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGCAACACATGTGGGAAATT	0.433000													9	20					0	0	0.008291	0	0
PRR12	57479	broad.mit.edu	37	19	50117835	50117835	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:50117835C>A	ENST00000418929.2	+	7	4831	c.4819C>A	c.(4819-4821)Cag>Aag	p.Q1607K		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	786							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTGGCGAGTCCAGAAGGCCCT	0.592000													10	3					0.0135373	0.0136915	0.013537	1	0
UNC5C	8633	broad.mit.edu	37	4	96222795	96222795	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:96222795C>T	ENST00000453304.1	-	3	800	c.452G>A	c.(451-453)gGt>gAt	p.G151D	UNC5C_ENST00000504962.1_Missense_Mutation_p.G151D|UNC5C_ENST00000506749.1_Missense_Mutation_p.G151D	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	151	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTTTGTGGTACCCGCGGAGCT	0.498000													10	58					0	0	0.001855	0	0
ATP8A2	51761	broad.mit.edu	37	13	26129158	26129158	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:26129158C>A	ENST00000381655.2	+	13	1357	c.1215C>A	c.(1213-1215)gaC>gaA	p.D405E	ATP8A2_ENST00000255283.8_Missense_Mutation_p.D365E	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	365					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TAGGAAATGACACTCCTGCCA	0.408000													7	22					2.74318e-10	2.92782e-10	0.006214	1	0
RAB3B	5865	broad.mit.edu	37	1	52442691	52442691	+	Silent	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:52442691A>C	ENST00000371655.3	-	2	311	c.99T>G	c.(97-99)gtT>gtG	p.V33V		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	33					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						AGGTCTTGCCAACACTGCTGT	0.483000													67	39					0	0	0.014410	0	0
SSNA1	8636	broad.mit.edu	37	9	140083594	140083594	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:140083594G>A	ENST00000322310.5	+	2	209	c.129G>A	c.(127-129)ctG>ctA	p.L43L	SSNA1_ENST00000459860.1_3'UTR	NM_003731.2	NP_003722.2	O43805	SSNA1_HUMAN	Sjogren syndrome nuclear autoantigen 1	43					G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus				breast(2)|kidney(1)|large_intestine(1)|lung(2)	6	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)		AGCAGCGGCTGCAGAATGAGG	0.657000													23	30					0	0	0.003330	0	0
RBM5	10181	broad.mit.edu	37	3	50144929	50144929	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:50144929C>T	ENST00000347869.3	+	12	1143	c.968C>T	c.(967-969)tCa>tTa	p.S323L	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	323	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTGGTCCTCTCAGATGGTAAC	0.478000													9	21					0	0	0.010729	0	0
HGFAC	3083	broad.mit.edu	37	4	3449359	3449359	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:3449359G>A	ENST00000382774.3	+	11	1610		c.e11+1		HGFAC_ENST00000511533.1_Splice_Site	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator						proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CACGACCTCGGTGAGCTCCGG	0.652000													242	339					0	0	0.014410	0	0
PTPRN	5798	broad.mit.edu	37	2	220166979	220166979	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:220166979T>C	ENST00000295718.2	-	6	1114	c.874A>G	c.(874-876)Agg>Ggg	p.R292G	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.R292G|PTPRN_ENST00000423636.2_Missense_Mutation_p.R202G	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	292					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CTTGGCACCCTGGCCCTGCTG	0.632000													37	16					0	0	0.006230	0	0
FANCB	2187	broad.mit.edu	37	X	14863348	14863348	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chrX:14863348C>A	ENST00000398334.1	-	8	1824	c.1557G>T	c.(1555-1557)cgG>cgT	p.R519R	FANCB_ENST00000324138.3_Silent_p.R519R	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	519					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ACTTTAGAAGCCGAAATCTGG	0.388000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	6					4.35082e-09	4.57764e-09	0.010504	1	0
CBFB	865	broad.mit.edu	37	16	67116228	67116228	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:67116228T>A	ENST00000290858.6	+	5	773	c.512T>A	c.(511-513)cTg>cAg	p.L171Q	CBFB_ENST00000561924.2_Missense_Mutation_p.L71Q|CBFB_ENST00000412916.2_Intron	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	171					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GTTTCACAGCTGCTGGCAGTA	0.428000			T	MYH11	AML								38	83					0	0	0.014410	0	0
TAF8	129685	broad.mit.edu	37	6	42019188	42019188	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:42019188G>C	ENST00000372977.3	+	2	157	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	TAF8_ENST00000456846.2_Missense_Mutation_p.E47Q|TAF8_ENST00000372982.4_Missense_Mutation_p.E47Q|TAF8_ENST00000472818.1_Missense_Mutation_p.E47Q|TAF8_ENST00000372978.3_Missense_Mutation_p.E47Q|TAF8_ENST00000465926.1_5'UTR|TAF8_ENST00000482926.1_3'UTR|TAF8_ENST00000494547.1_Missense_Mutation_p.E47Q|TAF8_ENST00000482432.1_5'UTR	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	47	Histone-fold.				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CTTGCTGACAGAGGCAGGGTT	0.537000													23	74					0	0	0.014323	0	0
DHX8	1659	broad.mit.edu	37	17	41598153	41598153	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:41598153A>G	ENST00000262415.3	+	20	3044	c.2972A>G	c.(2971-2973)aAa>aGa	p.K991R	DHX8_ENST00000540306.1_Missense_Mutation_p.K991R	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	991						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATGCTATGCAAAATGCTCATC	0.478000											OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	14					0	0	0.010504	0	0
COL24A1	255631	broad.mit.edu	37	1	86590911	86590911	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:86590911G>A	ENST00000370571.2	-	3	1474	c.1108C>T	c.(1108-1110)Ctc>Ttc	p.L370F	COL24A1_ENST00000436319.1_Missense_Mutation_p.L370F	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	370					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATGTTTAGGAGAGAGCTAAAT	0.378000													21	19					0	0	0.009535	0	0
CHSY3	337876	broad.mit.edu	37	5	129520908	129520908	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:129520908G>A	ENST00000305031.4	+	3	2431	c.2073G>A	c.(2071-2073)atG>atA	p.M691I		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	691						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			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)		TGATCCCAATGAAGGGAGAGT	0.443000													15	5					0	0	0.002450	0	0
NRBF2	29982	broad.mit.edu	37	10	64911926	64911926	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:64911926C>G	ENST00000277746.6	+	3	313	c.132C>G	c.(130-132)gcC>gcG	p.A44A	NRBF2_ENST00000435510.2_Silent_p.A34A	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	44					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding			large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTCTGAAGCCATGAAGCTGA	0.353000													8	43					0	0	0.008291	0	0
ZC3H15	55854	broad.mit.edu	37	2	187371546	187371546	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:187371546A>G	ENST00000337859.6	+	9	1300	c.1073A>G	c.(1072-1074)tAt>tGt	p.Y358C		NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	358						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TTCAGCACATATACTTCAGAT	0.363000													11	33					0	0	0.002450	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46917516	46917516	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:46917516G>A	ENST00000378797.2	-	14	2443	c.1839C>T	c.(1837-1839)gcC>gcT	p.A613A	KIAA0226L_ENST00000429979.1_3'UTR|KIAA0226L_ENST00000409879.2_3'UTR|KIAA0226L_ENST00000378787.3_Silent_p.A613A|KIAA0226L_ENST00000322896.6_3'UTR|KIAA0226L_ENST00000534925.1_3'UTR|KIAA0226L_ENST00000389908.3_3'UTR|KIAA0226L_ENST00000378784.4_3'UTR|KIAA0226L_ENST00000378781.3_3'UTR			Q9H714	CM018_HUMAN	KIAA0226-like	316										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AGTACTCAGGGGCATCATGTT	0.448000													6	11					0	0	0.001984	0	0
MYO1B	4430	broad.mit.edu	37	2	192194756	192194756	+	Splice_Site	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:192194756G>T	ENST00000392318.3	+	4	593		c.e4+1		MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000304164.4_Splice_Site|MYO1B_ENST00000392316.1_Splice_Site	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB							myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GGAAAAACAGGTAAGGCTCCT	0.483000													19	25					5.03518e-11	5.40005e-11	0.007413	1	0
ADGRG1	9289	broad.mit.edu	37	16	57685350	57685350	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:57685350A>T	ENST00000562631.1	+	3	835	c.303A>T	c.(301-303)ttA>ttT	p.L101F	GPR56_ENST00000540164.2_Missense_Mutation_p.L101F|GPR56_ENST00000379696.3_Missense_Mutation_p.L101F|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000567835.1_Missense_Mutation_p.L101F|GPR56_ENST00000388812.4_Missense_Mutation_p.L101F|GPR56_ENST00000568908.1_Missense_Mutation_p.L101F|GPR56_ENST00000538815.1_Missense_Mutation_p.L101F|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000562558.1_Missense_Mutation_p.L101F|GPR56_ENST00000568909.1_Missense_Mutation_p.L101F|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000456916.1_Missense_Mutation_p.L101F|GPR56_ENST00000388813.5_Missense_Mutation_p.L101F			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	101					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CTGGGAGATTACATCTTCTCT	0.602000													19	60					0	0	0.007413	0	0
POLR1C	9533	broad.mit.edu	37	6	43488129	43488129	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:43488129G>A	ENST00000372389.3	+	6	707	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	POLR1C_ENST00000372344.2_Missense_Mutation_p.E207K|POLR1C_ENST00000304004.3_Missense_Mutation_p.E207K	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	207					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCCTGGCCAAGAAATTGACCT	0.562000													22	107					0	0	0.007291	0	0
FMN1	342184	broad.mit.edu	37	15	33360066	33360066	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:33360066G>A	ENST00000334528.9	-	1	19	c.20C>T	c.(19-21)tCt>tTt	p.S7F	FMN1_ENST00000558197.1_Missense_Mutation_p.S7F|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_5'UTR	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	0	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GCCATCCAGAGAATTATCAAC	0.468000													8	26					0	0	0.008291	0	0
SLC39A10	57181	broad.mit.edu	37	2	196581642	196581642	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:196581642G>A	ENST00000409086.3	+	7	2253	c.1978G>A	c.(1978-1980)Gat>Aat	p.D660N	SLC39A10_ENST00000541054.1_Missense_Mutation_p.D210N|SLC39A10_ENST00000359634.5_Missense_Mutation_p.D660N	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	660					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TTCTGGATCCGATCTGAAAGA	0.493000													15	70					0	0	0.004007	0	0
ZNF853	54753	broad.mit.edu	37	7	6662346	6662346	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:6662346G>A	ENST00000457543.3	+	3	2282	c.1724G>A	c.(1723-1725)gGc>gAc	p.G575D		NM_017560.1	NP_060030.1	P0CG23	ZN853_HUMAN	zinc finger protein 853	575						intracellular	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)	2						GGGGACTGTGGCAAGCGCTTC	0.706000													20	5					0	0	0.002780	0	0
C5AR2	27202	broad.mit.edu	37	19	47844239	47844239	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:47844239G>T	ENST00000595464.1	+	2	401	c.183G>T	c.(181-183)ggG>ggT	p.G61G	C5AR2_ENST00000257267.2_Silent_p.G61G|C5AR2_ENST00000600626.1_Silent_p.G61G	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		GGGTGGCTGGGAAGGTGGCCC	0.687000													76	258					6.07207e-39	7.0026e-39	0.014410	1	0
MKI67	4288	broad.mit.edu	37	10	129903242	129903242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:129903242G>A	ENST00000368654.3	-	13	7237	c.6862C>T	c.(6862-6864)Cag>Tag	p.Q2288*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.Q1928*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2288	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCAATTTCTGCACTGGAGTT	0.483000													45	20					0	0	0.014410	0	0
AKAP4	8852	broad.mit.edu	37	X	49957631	49957631	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chrX:49957631A>C	ENST00000376056.2	-	5	1856	c.1706T>G	c.(1705-1707)aTg>aGg	p.M569R	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.M569R|AKAP4_ENST00000376058.2_Missense_Mutation_p.M195R|AKAP4_ENST00000358526.2_Missense_Mutation_p.M578R			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	578					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ACTCTGAGCCATATAGCCCAT	0.483000													16	8					0	0	0.004007	0	0
CD46	4179	broad.mit.edu	37	1	207930506	207930506	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:207930506G>A	ENST00000358170.2	+	2	401	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	CD46_ENST00000367047.1_Intron|CD46_ENST00000361067.1_Missense_Mutation_p.R82Q|CD46_ENST00000441839.2_Missense_Mutation_p.R82Q|CD46_ENST00000360212.2_Missense_Mutation_p.R82Q|CD46_ENST00000480003.1_Missense_Mutation_p.R82Q|CD46_ENST00000367041.1_Missense_Mutation_p.R82Q|CD46_ENST00000357714.1_Missense_Mutation_p.R82Q|CD46_ENST00000322918.5_Missense_Mutation_p.R82Q|CD46_ENST00000322875.4_Missense_Mutation_p.R82Q|CD46_ENST00000367042.1_Missense_Mutation_p.R82Q|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000354848.1_Missense_Mutation_p.R82Q	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	82	Sushi 1.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						ATTTGTGATCGGAATCATACA	0.368000													31	29					0	0	0.006999	0	0
MAP3K6	9064	broad.mit.edu	37	1	27683217	27683233	+	Frame_Shift_Del	DEL	GTGAGACCGCCTCCTTC	GTGAGACCGCCTCCTTC	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:27683217_27683233delGTGAGACCGCCTCCTTC	ENST00000493901.1	-	26	3611_3627	c.3372_3388delGAAGGAGGCGGTCTCAC	c.(3370-3390)gagaaggaggcggtctcaccgfs	p.EKEAVSP1124fs	MAP3K6_ENST00000357582.2_Frame_Shift_Del_p.EKEAVSP1124fs|MAP3K6_ENST00000374040.3_Frame_Shift_Del_p.EKEAVSP1116fs	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1124					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGACCTCGGTGAGACCGCCTCCTTCTCCACCTCTG	0.664													7	64	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	by1000genomes	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)gagdel	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586													10	170	---	---	---	---					
LINC01122	400955	broad.mit.edu	37	2	58688029	58688040	+	RNA	DEL	TCTCGCTCCTGA	TCTCGCTCCTGA	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:58688029_58688040delTCTCGCTCCTGA	ENST00000452840.1	+	0	127																											ccgatctcgttctcgctcctgatctcgttctc	0.538													7	3	---	---	---	---					
ESPNL	339768	broad.mit.edu	37	2	239039530	239039530	+	Frame_Shift_Del	DEL	G	G	-	rs115923307	by1000genomes	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:239039530delG	ENST00000343063.3	+	9	2438	c.2175delG	c.(2173-2175)gcgfs	p.A725fs	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Frame_Shift_Del_p.A357fs|ESPNL_ENST00000409169.1_Frame_Shift_Del_p.A681fs	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	725										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CATCAGAGGCGGGTGCCGCAG	0.682													2	4	---	---	---	---					
PDE5A	8654	broad.mit.edu	37	4	120446823	120446823	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:120446823delG	ENST00000354960.3	-	12	1979	c.1660delC	c.(1660-1662)cttfs	p.L554fs	PDE5A_ENST00000264805.5_Frame_Shift_Del_p.L512fs|PDE5A_ENST00000512739.1_5'UTR|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Frame_Shift_Del_p.L502fs	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	554					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTAATTTTAAGGGTCTGGGCA	0.408													15	47	---	---	---	---					
LINC01033	104355136	broad.mit.edu	37	5	53695958	53695958	+	RNA	DEL	A	A	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:53695958delA	ENST00000504609.3	+	0	205																											cgtctctactaaaaaatacaa	0.443													2	4	---	---	---	---					
MAP3K7	6885	broad.mit.edu	37	6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:91296568_91296570delGAG	ENST00000369329.3	-	1	194_196	c.33_35delCTC	c.(31-36)tcctcg>tcg	p.11_12SS>S	MAP3K7_ENST00000369325.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369332.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369327.3_In_Frame_Del_p.11_12SS>S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	11	Poly-Ser.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGCCGAAGACGAGGAGGAGGAGG	0.655													9	99	---	---	---	---					
SMPD2	6610	broad.mit.edu	37	6	109765030	109765042	+	Frame_Shift_Del	DEL	GGCCCAGGATCTG	GGCCCAGGATCTG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:109765030_109765042delGGCCCAGGATCTG	ENST00000258052.3	+	10	1553_1565	c.1194_1206delGGCCCAGGATCTG	c.(1192-1206)gaggcccaggatctgfs	p.EAQDL398fs		NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	398					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		GGGCAAGGGAGGCCCAGGATCTGGGCCCAGAGC	0.568													9	72	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146755399	146755401	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:146755399_146755401delCAG	ENST00000361719.2	+	9	3522_3524	c.3052_3054delCAG	c.(3052-3054)cagdel	p.Q1022del	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1022	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCTCCTCTCCAGCAGCAGCAGC	0.660													11	471	---	---	---	---					
EZR	7430	broad.mit.edu	37	6	159188477	159188477	+	Frame_Shift_Del	DEL	G	G	-	rs139613796		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:159188477delG	ENST00000367075.3	-	13	1580	c.1412delC	c.(1411-1413)ccgfs	p.P476fs	EZR_ENST00000392177.4_Frame_Shift_Del_p.P444fs|EZR_ENST00000337147.7_Frame_Shift_Del_p.P476fs	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	476	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TGGTGGGGGCGGGGGTGCTGT	0.597			T	ROS1	NSCLC								56	196	---	---	---	---					
RHBDD2	57414	broad.mit.edu	37	7	75513098	75513100	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:75513098_75513100delGAG	ENST00000318622.4	+	4	875_877	c.246_248delGAG	c.(244-249)atgagg>atg	p.R84del	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000006777.6_In_Frame_Del_p.R225del|RHBDD2_ENST00000428119.1_In_Frame_Del_p.R84del	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	225						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TCAGCCTGATGAGGAGGATATCC	0.527													68	176	---	---	---	---					
FAM86B1	85002	broad.mit.edu	37	8	12041205	12041205	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:12041205delC	ENST00000448228.2	-	7	850	c.801delG	c.(799-801)gggfs	p.G267fs	FAM86B1_ENST00000321602.8_Frame_Shift_Del_p.D121fs|FAM86B1_ENST00000533852.2_Frame_Shift_Del_p.G301fs	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	267										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		CCCATCTGATCCCATCCCGGC	0.552													4	2	---	---	---	---					
LOC101929268	101929268	broad.mit.edu	37	8	49465490	49465491	+	RNA	INS	-	-	AG	rs146231733	by1000genomes	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:49465490_49465491insAG	ENST00000522575.1	+	0	356				RP11-567J20.2_ENST00000524011.1_lincRNA																							AGCTGGAGGACGGGGCAGCCAA	0.644													6	2	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21970950	21970951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:21970950_21970951insC	ENST00000304494.5	-	2	677_678	c.407_408insG	c.(406-408)ggcfs	p.G136fs	CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.G85fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.G136fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.G136fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.G85fs|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.G85fs|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.G85fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.G85fs|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	136					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(13)|p.R128fs*12(3)|p.R128fs*9(1)|p.0(1)|p.A118fs*10(1)|p.G136fs*5(1)|p.G136D(1)|p.G136G(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCCTCTGGTGCCCCCCGCAGC	0.649		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	388	---	---	---	---					
SLC46A2	57864	broad.mit.edu	37	9	115652137	115652137	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:115652137delT	ENST00000374228.4	-	1	1056	c.825delA	c.(823-825)aaafs	p.K275fs		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	275						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GGGGTTTTGCTTTTCCAGGAG	0.537													36	84	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139390945	139390947	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:139390945_139390947delGTG	ENST00000277541.6	-	34	7319_7321	c.7244_7246delCAC	c.(7243-7248)ccacag>cag	p.P2415del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2415	Poly-Pro.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.Q2417*(2)|p.P2416fs*11(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCGGCTGTGGTGGTGGTGG	0.650			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			8	157	---	---	---	---					
IFIT2	3433	broad.mit.edu	37	10	91065822	91065822	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:91065822delA	ENST00000371826.3	+	2	278	c.109delA	c.(109-111)aaafs	p.K37fs	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	37					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TTTTGAAGACAAAGTATTTTA	0.438													22	13	---	---	---	---					
LRFN4	78999	broad.mit.edu	37	11	66625231	66625233	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:66625231_66625233delCTG	ENST00000309602.4	+	1	259_261	c.16_18delCTG	c.(16-18)ctgdel	p.L10del	LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del|LRFN4_ENST00000531590.1_3'UTR|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	10						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CCCGCCGCTCCTGCTGCTGCTGC	0.719													7	110	---	---	---	---					
IFFO1	25900	broad.mit.edu	37	12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-	rs144019095		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:6649704_6649706delGGC	ENST00000436152.2	-	11	1273_1275	c.714_716delGCC	c.(712-717)ccgcca>cca	p.238_239PP>P	IFFO1_ENST00000356896.4_In_Frame_Del_p.545_546PP>P|IFFO1_ENST00000336604.4_In_Frame_Del_p.544_545PP>P|IFFO1_ENST00000465801.1_In_Frame_Del_p.237_238PP>P|IFFO1_ENST00000396840.2_In_Frame_Del_p.541_542PP>P			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	541						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601													14	188	---	---	---	---					
CLDN10	9071	broad.mit.edu	37	13	96205153	96205168	+	Frame_Shift_Del	DEL	TGTGGAAGGCGTGCGT	TGTGGAAGGCGTGCGT	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:96205153_96205168delTGTGGAAGGCGTGCGT	ENST00000299339.2	+	1	175_190	c.146_161delTGTGGAAGGCGTGCGT	c.(145-162)ctgtggaaggcgtgcgttfs	p.LWKACV49fs	CLDN10_ENST00000376873.3_Intron	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	49					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TGGGCCAACCTGTGGAAGGCGTGCGTTACCGACTCC	0.644													24	210	---	---	---	---					
FAM155A	728215	broad.mit.edu	37	13	108518687	108518689	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:108518687_108518689delCTG	ENST00000375915.2	-	1	394_396	c.256_258delCAG	c.(256-258)cagdel	p.Q86del		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	86	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						gccgctgcctctgctgctgctgc	0.719													8	83	---	---	---	---					
CHRNA3	1136	broad.mit.edu	37	15	78913068	78913070	+	In_Frame_Del	DEL	CAG	CAG	-	rs72025661		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:78913068_78913070delCAG	ENST00000326828.5	-	1	451_453	c.67_69delCTG	c.(67-69)ctgdel	p.L23del	CHRNA3_ENST00000348639.3_In_Frame_Del_p.L23del	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	23			Missing.		activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						gcagcagagacagcagcagcagc	0.768													4	5	---	---	---	---					
ZNF598	90850	broad.mit.edu	37	16	2049883	2049885	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:2049883_2049885delTCC	ENST00000563630.1	-	9	1742_1744	c.1500_1502delGGA	c.(1498-1503)gaggac>gac	p.E500del	ZNF598_ENST00000431526.1_In_Frame_Del_p.E555del|ZNF598_ENST00000562103.1_In_Frame_Del_p.E500del			Q86UK7	ZN598_HUMAN	zinc finger protein 598	555						intracellular	zinc ion binding	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CGGGCCGCCGTCCTCCTCCTCCT	0.709													4	6	---	---	---	---					
ABCA3	21	broad.mit.edu	37	16	2369649	2369651	+	In_Frame_Del	DEL	AGC	AGC	-	rs145342500		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:2369649_2369651delAGC	ENST00000301732.5	-	8	1504_1506	c.804_806delGCT	c.(802-807)ctgctc>ctc	p.268_269LL>L	ABCA3_ENST00000382381.3_In_Frame_Del_p.268_269LL>L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	268					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGTGAAGCTGAGCAGCAGCAGCA	0.611													9	367	---	---	---	---					
IL27	246778	broad.mit.edu	37	16	28518125	28518126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:28518125_28518126insC	ENST00000356897.1	-	1	29_30	c.7_8insG	c.(7-9)cagfs	p.Q3fs		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	3					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GCCTGCCGTCTGGCCCATGGCG	0.629													40	118	---	---	---	---					
SEPT1	1731	broad.mit.edu	37	16	30390387	30390388	+	Frame_Shift_Ins	INS	-	-	AGCG			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:30390387_30390388insAGCG	ENST00000321367.3	-	10	1063_1064	c.1018_1019insCGCT	c.(1018-1020)tgcfs	p.C340fs	SEPT1_ENST00000571393.1_Frame_Shift_Ins_p.C293fs|SEPT1_ENST00000605106.1_Frame_Shift_Ins_p.C298fs	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	293					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			GCTCTGTAGGCAGCGGGCCCGG	0.658													65	102	---	---	---	---					
AQP4-AS1	147429	broad.mit.edu	37	18	24327265	24327266	+	RNA	INS	-	-	GGGGC	rs71266965		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:24327265_24327266insGGGGC	ENST00000582605.1	+	0	305				AQP4-AS1_ENST00000579964.1_RNA																							TGAGCAACAcgggggcggggcg	0.485													2	4	---	---	---	---					
NOTCH3	4854	broad.mit.edu	37	19	15290217	15290223	+	Frame_Shift_Del	DEL	GGTCAAT	GGTCAAT	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:15290217_15290223delGGTCAAT	ENST00000263388.2	-	21	3487_3493	c.3412_3418delATTGACC	c.(3412-3420)attgacctcfs	p.IDL1138fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1138	EGF-like 29; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGGCCACGAGGTCAATGCATGAACCC	0.594													63	111	---	---	---	---					
LAMA5	3911	broad.mit.edu	37	20	60895697	60895698	+	Frame_Shift_Ins	INS	-	-	G	rs2297587	by1000genomes	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:60895697_60895698insG	ENST00000252999.3	-	50	6742_6743	c.6676_6677insC	c.(6676-6678)cgcfs	p.R2226fs		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2226	Domain II and I.		R -> H (in dbSNP:rs2297587).		angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTCTCATGGCGGGGGCCCAGG	0.708													10	55	---	---	---	---					
TAF9B	51616	broad.mit.edu	37	X	77387128	77387139	+	In_Frame_Del	DEL	ATCATCTTCATG	ATCATCTTCATG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chrX:77387128_77387139delATCATCTTCATG	ENST00000341864.5	-	7	818_829	c.724_735delCATGAAGATGAT	c.(724-735)catgaagatgatdel	p.HEDD242del		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	242					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding	p.H242Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						CATTGTCATCATCATCTTCATGTTTTCTCTTC	0.354													19	11	---	---	---	---					
