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
NHEJ1	79840	broad.mit.edu	37	2	219942055	219942055	+	Silent	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:219942055C>A	ENST00000356853.5	-	7	871	c.738G>T	c.(736-738)ctG>ctT	p.L246L	NHEJ1_ENST00000483627.1_5'UTR|NHEJ1_ENST00000409720.1_Silent_p.L246L	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	246					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		CGATTCCTTGCAGGGAAGCAC	0.463000								Non-homologous end-joining					12	31					6.53275e-17	7.79575e-17	1	1	0
WDR7	23335	broad.mit.edu	37	18	54385306	54385306	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr18:54385306C>G	ENST00000254442.3	+	13	1901	c.1690C>G	c.(1690-1692)Caa>Gaa	p.Q564E	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.Q564E	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	564										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTTTCCTATTCAAGTAATCAA	0.443000													38	20					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228505639	228505639	+	Silent	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:228505639C>T	ENST00000570156.2	+	64	16841	c.16767C>T	c.(16765-16767)agC>agT	p.S5589S	OBSCN_ENST00000284548.11_Silent_p.S4632S|OBSCN_ENST00000366709.4_Silent_p.S1751S|OBSCN_ENST00000366707.4_Silent_p.S2266S|OBSCN_ENST00000422127.1_Silent_p.S4632S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4632					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCCTGAGAGCCGGCAGGTGG	0.642000													20	45					0	0	1	0	0
MMS19	64210	broad.mit.edu	37	10	99237134	99237134	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:99237134T>C	ENST00000438925.2	-	6	798	c.463A>G	c.(463-465)Atc>Gtc	p.I155V	MMS19_ENST00000370782.2_Missense_Mutation_p.I155V|MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000327238.10_Missense_Mutation_p.I155V|MMS19_ENST00000355839.6_Missense_Mutation_p.I155V	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	155					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AAATTGGTGATGATATTGTAG	0.468000								Direct reversal of damage					35	32					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8824761	8824761	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr18:8824761G>C	ENST00000359865.3	+	15	3395	c.3253G>C	c.(3253-3255)Gag>Cag	p.E1085Q	SOGA2_ENST00000400050.3_Missense_Mutation_p.E1044Q|SOGA2_ENST00000306285.7_Missense_Mutation_p.E410Q|SOGA2_ENST00000306329.11_Missense_Mutation_p.E1404Q|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1044Q|SOGA2_ENST00000518815.1_Missense_Mutation_p.E410Q	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1395																	CTTCCTGCCTGAGAAGGGCCT	0.577000													21	30					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93579718	93579718	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:93579718C>T	ENST00000371627.4	+	6	1035	c.656C>T	c.(655-657)gCa>gTa	p.A219V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	219					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CATTTGGCAGCAGGATATAAC	0.323000													27	33					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1719886	1719886	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chrX:1719886C>G	ENST00000313871.3	+	5	1683	c.1487C>G	c.(1486-1488)cCc>cGc	p.P496R		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	496					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GCCGGTGCCCCCAAGGAGAGC	0.716000													7	12					0	0	1	0	0
TCP10L	140290	broad.mit.edu	37	21	33949207	33949207	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr21:33949207A>C	ENST00000300258.3	-	5	638	c.525T>G	c.(523-525)atT>atG	p.I175M	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCCACGAGCTAATTCTTTCTA	0.353000													74	9					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171405194	171405194	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:171405194C>G	ENST00000356327.5	-	15	1790	c.1720G>C	c.(1720-1722)Gca>Cca	p.A574P	PLD1_ENST00000340989.4_Missense_Mutation_p.A574P|PLD1_ENST00000342215.6_Intron|PLD1_ENST00000351298.4_Missense_Mutation_p.A574P	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	574	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATGCTATCTGCGTCGTGCAGG	0.438000													11	66					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	69064895	69064895	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:69064895G>C	ENST00000342771.4	+	1	577	c.256G>C	c.(256-258)Gac>Cac	p.D86H	AUTS2_ENST00000406775.2_Missense_Mutation_p.D86H|AUTS2_ENST00000403018.2_Missense_Mutation_p.D86H	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	86										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGCAGAAGAGGACATCATTGA	0.627000													12	41					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624086	624086	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:624086G>T	ENST00000321878.5	+	2	171	c.12G>T	c.(10-12)aaG>aaT	p.K4N	PIGQ_ENST00000026218.5_Missense_Mutation_p.K4N|PIGQ_ENST00000409527.2_Missense_Mutation_p.K4N|PIGQ_ENST00000470411.2_Missense_Mutation_p.K4N	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	4					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGGTGCTCAAGGCCTTCTTCC	0.692000													7	43					0.00307968	0.00318649	1	1	0
SAMD14	201191	broad.mit.edu	37	17	48195666	48195666	+	Silent	SNP	C	C	T	rs145637965		TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:48195666C>T	ENST00000330175.4	-	3	386	c.69G>A	c.(67-69)acG>acA	p.T23T	SAMD14_ENST00000503131.1_Silent_p.T23T|SAMD14_ENST00000503734.1_5'UTR	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	23										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						CCAGTCTGGCCGTCTCTGGCA	0.662000													22	36					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118629562	118629562	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:118629562C>G	ENST00000336338.5	-	11	1494	c.1429G>C	c.(1429-1431)Gac>Cac	p.D477H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	477						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTCTGTGGTCTAGCCCGTCT	0.517000													34	74					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428651	10428651	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:10428651G>T	ENST00000245503.5	-	33	4936	c.4552C>A	c.(4552-4554)Ctc>Atc	p.L1518I	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1518I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1518					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGTTCCGTGAGGTCAGAAATC	0.383000													31	31					4.02929e-09	4.56482e-09	1	1	0
WDR88	126248	broad.mit.edu	37	19	33666381	33666381	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:33666381G>A	ENST00000355868.3	+	11	1398	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	WDR88_ENST00000361680.2_3'UTR	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	441										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GTGTTCTGCCGGATAGATACA	0.483000													72	33					0	0	1	0	0
EIF5	1983	broad.mit.edu	37	14	103802403	103802403	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:103802403G>A	ENST00000216554.3	+	4	779	c.103G>A	c.(103-105)Gtt>Att	p.V35I	EIF5_ENST00000560200.1_Intron|EIF5_ENST00000558506.1_Missense_Mutation_p.V35I|EIF5_ENST00000392715.2_Missense_Mutation_p.V35I	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	35					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AATCAAGACAGTTATAGTCAA	0.398000													19	22					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46784249	46784249	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:46784249C>A	ENST00000529230.1	-	31	4001	c.3955G>T	c.(3955-3957)Gtc>Ttc	p.V1319F	CKAP5_ENST00000415402.1_Missense_Mutation_p.V1319F|CKAP5_ENST00000354558.3_Missense_Mutation_p.V1319F|CKAP5_ENST00000312055.5_Missense_Mutation_p.V1319F			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1319					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GCTGGGTAGACAAGGCACATC	0.418000													13	80					0.00185496	0.00194174	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	60					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46774557	46774557	+	Silent	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr22:46774557C>A	ENST00000262738.3	-	23	7313	c.7314G>T	c.(7312-7314)cgG>cgT	p.R2438R		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2438	GPS.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGACATGTGTCCGGTTCCTGG	0.657000													6	12					8.12818e-05	8.66039e-05	1	1	0
COPE	11316	broad.mit.edu	37	19	19014116	19014116	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:19014116C>T	ENST00000600932.1	-	8	796	c.765G>A	c.(763-765)tgG>tgA	p.W255*	COPE_ENST00000262812.4_Nonsense_Mutation_p.W232*|COPE_ENST00000351079.4_Nonsense_Mutation_p.W181*|COPE_ENST00000349893.4_Intron|COPE_ENST00000598969.1_5'UTR			O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	232					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						CAGCGGCCTCCCAGCGGCCCT	0.672000													13	32					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87968364	87968364	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:87968364G>A	ENST00000369577.3	+	8	5060	c.5017G>A	c.(5017-5019)Gta>Ata	p.V1673I	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1668I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCATTCAAATGTAATTCCAAC	0.338000													3	25					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150554015	150554015	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:150554015C>A	ENST00000493429.1	+	4	1041	c.457C>A	c.(457-459)Cac>Aac	p.H153N	AOC1_ENST00000360937.4_Missense_Mutation_p.H153N|AOC1_ENST00000467291.1_Missense_Mutation_p.H153N|AOC1_ENST00000416793.2_Missense_Mutation_p.H153N					amine oxidase, copper containing 1																		CCTCCTCTACCACACCCTGCA	0.602000													26	90					9.90768e-06	1.07483e-05	1	1	0
DMD	1756	broad.mit.edu	37	X	32834617	32834617	+	Silent	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chrX:32834617G>A	ENST00000357033.4	-	6	704	c.498C>T	c.(496-498)ggC>ggT	p.G166G	DMD_ENST00000288447.4_Silent_p.G158G|DMD_ENST00000378677.2_Silent_p.G162G	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	166	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAAAGCCAGGCCATCAGACC	0.388000													19	19					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390522	197390522	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:197390522C>A	ENST00000367400.3	+	6	1699	c.1564C>A	c.(1564-1566)Ctt>Att	p.L522I	CRB1_ENST00000367399.2_Missense_Mutation_p.L410I|CRB1_ENST00000544212.1_Missense_Mutation_p.L3I|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.L522I|CRB1_ENST00000543483.1_Missense_Mutation_p.L221I|CRB1_ENST00000535699.1_Missense_Mutation_p.L453I|CRB1_ENST00000476483.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	522	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						GCCAATGGCTCTTCTACTTTT	0.473000													16	59					6.31663e-08	7.06673e-08	1	1	0
HNRNPF	3185	broad.mit.edu	37	10	43882522	43882522	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:43882522T>A	ENST00000443950.2	-	3	1297	c.811A>T	c.(811-813)Atg>Ttg	p.M271L	HNRNPF_ENST00000357065.4_Missense_Mutation_p.M271L|HNRNPF_ENST00000356053.3_Missense_Mutation_p.M271L|HNRNPF_ENST00000337970.3_Missense_Mutation_p.M271L|HNRNPF_ENST00000544000.1_Missense_Mutation_p.M271L	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	271					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						TGGTCATACATTCCGGAGAGA	0.587000													7	16					0	0	1	0	0
LY6G6D	58530	broad.mit.edu	37	6	31683300	31683300	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:31683300A>G	ENST00000503322.1	+	5	827	c.824A>G	c.(823-825)aAc>aGc	p.N275S	LY6G6F_ENST00000556581.1_Missense_Mutation_p.N275S|LY6G6D_ENST00000375825.3_Missense_Mutation_p.N26S																							CGGTGCTACAACTGTGGTGGA	0.617000													57	53					0	0	1	0	0
DMTN	2039	broad.mit.edu	37	8	21938938	21938938	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr8:21938938G>T	ENST00000358242.3	+	16	1675	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	DMTN_ENST00000443491.2_Missense_Mutation_p.K347N|DMTN_ENST00000265800.5_Missense_Mutation_p.K394N|DMTN_ENST00000432128.1_Missense_Mutation_p.K394N|DMTN_ENST00000523782.2_Missense_Mutation_p.K347N|DMTN_ENST00000415253.1_Missense_Mutation_p.K372N|DMTN_ENST00000517600.1_Missense_Mutation_p.K354N|DMTN_ENST00000519907.1_Missense_Mutation_p.K372N|DMTN_ENST00000381470.3_Missense_Mutation_p.K372N|DMTN_ENST00000523266.1_Missense_Mutation_p.K394N					dematin actin binding protein																		CTCTGTGGAAGCGGAATGAGC	0.602000													30	53					4.11147e-13	4.81016e-13	1	1	0
C6orf1	221491	broad.mit.edu	37	6	34214862	34214862	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:34214862C>T	ENST00000476320.1	-	4	766	c.84G>A	c.(82-84)atG>atA	p.M28I	C6orf1_ENST00000335352.3_Missense_Mutation_p.M8I|C6orf1_ENST00000468145.1_Missense_Mutation_p.M28I|C6orf1_ENST00000481533.1_Missense_Mutation_p.M28I|C6orf1_ENST00000413013.2_Missense_Mutation_p.M8I|C6orf1_ENST00000394990.4_Missense_Mutation_p.M28I	NM_001008703.1	NP_001008703.1	Q86T20	CF001_HUMAN	chromosome 6 open reading frame 1	28						extracellular region				endometrium(1)|prostate(1)	2		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		TGCTCAGCCTCATGCAGTTCC	0.637000											OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	94	111					0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79126276	79126276	+	Silent	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:79126276C>T	ENST00000370747.4	+	7	1135	c.1050C>T	c.(1048-1050)agC>agT	p.S350S	IFI44_ENST00000545124.1_Silent_p.S67S|IFI44_ENST00000495254.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	350					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						ATGTGGATAGCATGGATTTGA	0.373000													22	26					0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41077549	41077549	+	Missense_Mutation	SNP	G	G	A	rs149149384	byFrequency	TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr22:41077549G>A	ENST00000249016.4	+	2	1582	c.886G>A	c.(886-888)Gca>Aca	p.A296T	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.A170T	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	296					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CATCACAGCCGCATACGTGAG	0.622000													76	32					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	60					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123780597	123780597	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chrX:123780597T>G	ENST00000422452.2	-	9	1706	c.1643A>C	c.(1642-1644)cAt>cCt	p.H548P	TENM1_ENST00000371130.3_Missense_Mutation_p.H548P	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGGGAAACAATGACAATGGCC	0.368000													24	2					0	0	1	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122348922	122348922	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:122348922C>T	ENST00000398250.1	+	7	1076	c.724C>T	c.(724-726)Cga>Tga	p.R242*	PPAPDC1A_ENST00000369073.3_Nonsense_Mutation_p.R232*|PPAPDC1A_ENST00000439221.1_Nonsense_Mutation_p.R179*|PPAPDC1A_ENST00000398248.1_Silent_p.C91C	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	242					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CGTTAGTCTGCGAGTCCCAGC	0.557000													17	66					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18221819	18221819	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chrX:18221819T>C	ENST00000380033.4	-	5	841	c.709A>G	c.(709-711)Atc>Gtc	p.I237V	BEND2_ENST00000380030.3_Missense_Mutation_p.I237V	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	237										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CCTCCACTGATAAAGTTCCAT	0.448000													58	5					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25458472	25458472	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr13:25458472C>G	ENST00000381884.4	-	14	3792	c.3607G>C	c.(3607-3609)Gac>Cac	p.D1203H	CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1203					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		ACTCTTTGGTCTGGCATGACC	0.438000													7	26					0	0	1	0	0
SFN	2810	broad.mit.edu	37	1	27190149	27190149	+	Missense_Mutation	SNP	C	C	T	rs78707984		TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:27190149C>T	ENST00000339276.4	+	1	517	c.446C>T	c.(445-447)tCa>tTa	p.S149L		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	149					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		TCAGCCCGGTCAGCCTACCAG	0.602000													22	54					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55452898	55452898	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:55452898G>C	ENST00000588756.1	-	4	668	c.182C>G	c.(181-183)aCc>aGc	p.T61S	NLRP7_ENST00000328092.5_Missense_Mutation_p.T61S|NLRP7_ENST00000448121.2_Missense_Mutation_p.T61S|NLRP7_ENST00000340844.2_Missense_Mutation_p.T61S|NLRP7_ENST00000592784.1_Missense_Mutation_p.T61S|NLRP7_ENST00000590030.1_Missense_Mutation_p.T61S|NLRP7_ENST00000446217.1_Missense_Mutation_p.T89S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	61	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTCTGAGGAGGTGTTGACCAG	0.468000													32	56					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1049416	1049416	+	Silent	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:1049416G>T	ENST00000263094.6	+	18	2763	c.2532G>T	c.(2530-2532)ggG>ggT	p.G844G	ABCA7_ENST00000435683.2_Silent_p.G706G|ABCA7_ENST00000433129.1_Silent_p.G844G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	844	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GCCACAACGGGGCCGGCAAGA	0.711000													20	44					3.8784e-16	4.56733e-16	1	1	0
C9	735	broad.mit.edu	37	5	39364512	39364512	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr5:39364512G>T	ENST00000263408.4	-	1	150	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	19					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGTGCTGTGAGGATGCTTATT	0.507000													4	14					0.184627	0.185665	1	1	0
COL9A3	1299	broad.mit.edu	37	20	61458626	61458626	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:61458626C>T	ENST00000343916.3	+	16	829	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	276	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					AGAAGGGTTCCGCGGCCCCAA	0.612000													31	28					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60640752	60640752	+	Silent	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:60640752G>A	ENST00000278853.5	+	7	1230	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	410	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TTGAGCTGCGGATTGCCAAAG	0.607000													26	155					0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70698201	70698201	+	Silent	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:70698201C>A	ENST00000338779.6	-	15	1897	c.1623G>T	c.(1621-1623)ggG>ggT	p.G541G	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	541					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CGGTGGGCAGCCCAGCAGTGG	0.711000													7	37					0.00307968	0.00318649	1	1	0
HEATR5A	25938	broad.mit.edu	37	14	31790778	31790778	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:31790778A>G	ENST00000543095.2	-	25	4080	c.3896T>C	c.(3895-3897)gTt>gCt	p.V1299A	HEATR5A_ENST00000389961.3_Missense_Mutation_p.V1293A|HEATR5A_ENST00000439348.1_Missense_Mutation_p.V1293A|HEATR5A_ENST00000439727.1_Missense_Mutation_p.V1006A	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1293							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCGCCGAATAACAACTAACAG	0.428000													4	11					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32635161	32635161	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:32635161G>T	ENST00000335185.5	-	16	2746	c.2703C>A	c.(2701-2703)taC>taA	p.Y901*		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	901										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AAAAATTCATGTATACTGGAG	0.398000													82	9					6.14238e-36	7.96729e-36	1	1	0
OR52B6	340980	broad.mit.edu	37	11	5602834	5602834	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:5602834C>A	ENST00000345043.2	+	1	728	c.728C>A	c.(727-729)gCa>gAa	p.A243E	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCTCCAAGCAGTCTTCCGC	0.498000													87	12					7.69131e-47	1.01231e-46	1	1	0
FOXA1	3169	broad.mit.edu	37	14	38060648	38060648	+	Silent	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:38060648C>T	ENST00000250448.2	-	2	1402	c.1341G>A	c.(1339-1341)agG>agA	p.R447R	FOXA1_ENST00000540786.1_Silent_p.R414R|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	447					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGATGGGGCTCCTGGTGGTCA	0.612000													33	30					0	0	1	0	0
PSAT1	29968	broad.mit.edu	37	9	80919820	80919820	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:80919820A>G	ENST00000376588.3	+	4	429	c.361A>G	c.(361-363)Ata>Gta	p.I121V	PSAT1_ENST00000347159.2_Missense_Mutation_p.I121V	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	121					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	GTTTGGGACTATAAATATCGT	0.502000													56	5					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97098980	97098980	+	Silent	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:97098980C>A	ENST00000371247.2	-	29	2964	c.2775G>T	c.(2773-2775)gtG>gtT	p.V925V	SORBS1_ENST00000353505.5_Silent_p.V776V|SORBS1_ENST00000361941.3_Silent_p.V925V|SORBS1_ENST00000371227.4_Silent_p.V879V|SORBS1_ENST00000371239.1_Silent_p.V702V|SORBS1_ENST00000277982.5_Silent_p.V947V|SORBS1_ENST00000371245.3_Silent_p.V776V|SORBS1_ENST00000354106.3_Silent_p.V895V|SORBS1_ENST00000607232.1_Silent_p.V1185V|SORBS1_ENST00000347291.4_Silent_p.V737V|SORBS1_ENST00000371249.2_Silent_p.V707V|SORBS1_ENST00000371246.2_Silent_p.V947V|SORBS1_ENST00000306402.6_Silent_p.V672V|SORBS1_ENST00000393949.1_Silent_p.V895V|SORBS1_ENST00000371241.1_Silent_p.V575V			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	925	SH3 2.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GTCGCTTGATCACATCCACGT	0.557000													49	32					5.7616e-29	7.36662e-29	1	1	0
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr12:113515335T>G	ENST00000257600.3	+	2	869	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	122	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622000													5	62					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179576864	179576864	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:179576864T>A	ENST00000467460.1	-	8	1138	c.808A>T	c.(808-810)Aaa>Taa	p.K270*	PEX5L_ENST00000465751.1_Nonsense_Mutation_p.K246*|PEX5L_ENST00000392649.3_Nonsense_Mutation_p.K162*|PEX5L_ENST00000263962.8_Nonsense_Mutation_p.K268*|PEX5L_ENST00000476138.1_Nonsense_Mutation_p.K227*|PEX5L_ENST00000464614.1_Nonsense_Mutation_p.K162*|PEX5L_ENST00000468741.1_Nonsense_Mutation_p.K78*|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000472994.1_Nonsense_Mutation_p.K211*|PEX5L_ENST00000485199.1_Nonsense_Mutation_p.K235*	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	270					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ACTGCTGCTTTTGCCCTTTCA	0.393000													12	47					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964334	7964334	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:7964334C>A	ENST00000306708.6	+	3	1028	c.927C>A	c.(925-927)ttC>ttA	p.F309L	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	309						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CCCACCTCTTCTCCAAGCTGG	0.557000													19	25					1.33834e-09	1.52587e-09	1	1	0
CLOCK	9575	broad.mit.edu	37	4	56315583	56315583	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr4:56315583T>C	ENST00000309964.4	-	16	1679	c.1429A>G	c.(1429-1431)Agg>Ggg	p.R477G	CLOCK_ENST00000513440.1_Missense_Mutation_p.R477G|CLOCK_ENST00000381322.1_Missense_Mutation_p.R477G	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	477					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AATGATGACCTTCTTTGCACC	0.398000													45	31					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9256432	9256432	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr18:9256432C>T	ENST00000383440.2	+	8	3355	c.3098C>T	c.(3097-3099)tCa>tTa	p.S1033L	ANKRD12_ENST00000262126.3_Missense_Mutation_p.S1056L|ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1033L	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1056						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAACCTAAGTCATCACCAGCA	0.328000													51	56					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37951817	37951817	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:37951817C>T	ENST00000436072.2	-	4	1072	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	232	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R232Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GACTTGAGTTCGAGGGATGGG	0.478000													17	56					0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144314011	144314011	+	Silent	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:144314011C>A	ENST00000295095.6	+	11	1127	c.960C>A	c.(958-960)ggC>ggA	p.G320G	RP11-570L15.1_ENST00000553076.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	320	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GAGTTAGTGGCAATCTGGCAA	0.313000													57	5					1.72039e-30	2.21547e-30	1	1	0
NFS1	9054	broad.mit.edu	37	20	34262286	34262286	+	Silent	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:34262286G>T	ENST00000374092.4	-	10	1192	c.1122C>A	c.(1120-1122)gcC>gcA	p.A374A	NFS1_ENST00000540053.1_Silent_p.A172A|NFS1_ENST00000397425.1_Silent_p.A314A|NFS1_ENST00000374085.1_Silent_p.A314A|NFS1_ENST00000541387.1_Silent_p.A323A	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	374					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CTGAGGATAAGGCAACGTCCT	0.512000													41	76					9.39024e-22	1.15127e-21	1	1	0
WDR3	10885	broad.mit.edu	37	1	118496120	118496120	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:118496120G>T	ENST00000349139.4	+	21	2271	c.2224G>T	c.(2224-2226)Gac>Tac	p.D742Y		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	742						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GACTCAAGGTGACAGTTACTT	0.333000													5	21					0.0215528	0.0219201	1	1	0
PAK2	5062	broad.mit.edu	37	3	196545014	196545014	+	Silent	SNP	A	A	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:196545014A>T	ENST00000327134.3	+	12	1462	c.1140A>T	c.(1138-1140)ggA>ggT	p.G380G		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	380	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		GAATGGAAGGATCTGTTAAGC	0.333000													29	20					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94740703	94740703	+	Splice_Site	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:94740703G>T	ENST00000289495.5	+	2	1744	c.1528_splice	c.e2+1	p.D510_splice	PPP1R9A_ENST00000424654.1_Splice_Site_p.D510_splice|PPP1R9A_ENST00000340694.4_Splice_Site_p.D510_splice|PPP1R9A_ENST00000433360.1_Splice_Site_p.D510_splice|PPP1R9A_ENST00000456331.2_Splice_Site_p.D510_splice|PPP1R9A_ENST00000433881.1_Splice_Site_p.D510_splice	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	510	PDZ.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCTAGAGAAAGGTTCGTGAGT	0.368000										HNSCC(28;0.073)			17	13					2.94398e-08	3.31429e-08	1	1	0
IKZF2	22807	broad.mit.edu	37	2	213878616	213878616	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:213878616T>A	ENST00000457361.1	-	7	923	c.755A>T	c.(754-756)gAc>gTc	p.D252V	IKZF2_ENST00000451136.2_Missense_Mutation_p.D180V|IKZF2_ENST00000434687.1_Missense_Mutation_p.D252V|IKZF2_ENST00000374319.4_Missense_Mutation_p.D226V|IKZF2_ENST00000342002.2_Missense_Mutation_p.D258V|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374327.4_Missense_Mutation_p.D107V|IKZF2_ENST00000421754.2_Intron	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AATATTGTTGTCCATAATAGG	0.383000													38	4					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169507197	169507197	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr5:169507197A>T	ENST00000256935.8	+	50	5277	c.5197A>T	c.(5197-5199)Acc>Tcc	p.T1733S	DOCK2_ENST00000540750.1_Missense_Mutation_p.T794S|DOCK2_ENST00000520908.1_Missense_Mutation_p.T1225S|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1733					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATGAGTGACACCAACCTCTC	0.552000													39	5					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2962292	2962292	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:2962292G>T	ENST00000396946.4	-	17	2648	c.2245C>A	c.(2245-2247)Ctg>Atg	p.L749M		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	749	PDZ.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGTAGTGCAGCGTGACGGGG	0.627000			Mis		DLBCL								32	95					8.16721e-17	9.68166e-17	1	1	0
RTN1	6252	broad.mit.edu	37	14	60193673	60193673	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:60193673C>T	ENST00000267484.5	-	3	2064	c.1729G>A	c.(1729-1731)Gcc>Acc	p.A577T		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	577					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.A577T(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGGGGCGGGGCGCCAGGACCT	0.582000													15	17					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8499688	8499688	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:8499688C>T	ENST00000381196.4	-	22	2824	c.2281G>A	c.(2281-2283)Ggc>Agc	p.G761S	PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.G748S|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.G761S|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.G748S|PTPRD_ENST00000540109.1_Missense_Mutation_p.G761S|PTPRD_ENST00000471274.1_5'UTR	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	761	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGGGCTGGCCCTTGGGCTCA	0.433000										TSP Lung(15;0.13)			18	63					0	0	1	0	0
TXNL4B	54957	broad.mit.edu	37	16	72122887	72122887	+	Splice_Site	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:72122887C>A	ENST00000268483.3	-	3	604	c.284_splice	c.e3+1	p.G95_splice	TXNL4B_ENST00000423037.1_Splice_Site_p.G95_splice|TXNL4B_ENST00000426362.2_Splice_Site_p.G95_splice	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	95					mitosis|mRNA processing|RNA splicing	spliceosomal complex				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						TGCACTTACCCATAATCCACT	0.383000													48	29					4.33383e-22	5.35004e-22	1	1	0
SGMS1-AS1	104355295	broad.mit.edu	37	10	52390368	52390368	+	RNA	SNP	A	A	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:52390368A>G	ENST00000443374.1	+	0	1061																											ACCAAGGATTATACTTCAAAA	0.393000													11	6					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727426	7727426	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:7727426C>A	ENST00000283147.6	+	1	397	c.238C>A	c.(238-240)Cag>Aag	p.Q80K		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	80					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GCGGGAGATGCAGAAGGAGAT	0.746000													8	27					0.00829132	0.00848083	1	1	0
KDM6B	23135	broad.mit.edu	37	17	7752161	7752161	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:7752161C>T	ENST00000254846.5	+	11	2944	c.2555C>T	c.(2554-2556)tCa>tTa	p.S852L	KDM6B_ENST00000448097.2_Missense_Mutation_p.S852L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	852	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCGCCCACCTCAGCGGCCCCT	0.716000													209	14					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22155589	22155589	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:22155589A>C	ENST00000389398.5	+	26	2710	c.2614A>C	c.(2614-2616)Aaa>Caa	p.K872Q	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	872						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ATATGGGCTCAAAAAATTGAA	0.438000													14	10					0	0	1	0	0
IDI2	91734	broad.mit.edu	37	10	1065569	1065569	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:1065569A>T	ENST00000277517.1	-	5	636	c.572T>A	c.(571-573)gTc>gAc	p.V191D	GTPBP4_ENST00000360803.4_3'UTR	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	191	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		GGTGACTTTGACTTCACCCCT	0.562000													25	10					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87588063	87588063	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr8:87588063G>A	ENST00000320005.5	-	18	2446	c.2399C>T	c.(2398-2400)aCt>aTt	p.T800I		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	800					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GACTTCAATAGTAAGAACCTC	0.403000													35	32					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73562574	73562574	+	Splice_Site	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr15:73562574G>A	ENST00000339362.5	+	18	3165	c.2718_splice	c.e18+1	p.K906_splice	NEO1_ENST00000560262.1_Splice_Site_p.K906_splice|NEO1_ENST00000261908.6_Splice_Site_p.K906_splice|NEO1_ENST00000558964.1_Splice_Site_p.K906_splice			Q92859	NEO1_HUMAN	neogenin 1	906	Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCAAGTACAAGGTACTGACAC	0.428000													13	34					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7621799	7621799	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:7621799A>T	ENST00000256861.6	-	9	1415	c.1337T>A	c.(1336-1338)cTg>cAg	p.L446Q	ITIH5_ENST00000397146.2_Missense_Mutation_p.L446Q|ITIH5_ENST00000298441.6_Missense_Mutation_p.L232Q|ITIH5_ENST00000446830.2_Missense_Mutation_p.L228Q|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.L446Q	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	446	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						TTTCTCCAGCAGCCTGAAGTC	0.612000													31	55					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80828234	80828234	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:80828234C>G	ENST00000355528.4	+	14	1583	c.1453C>G	c.(1453-1455)Ccc>Gcc	p.P485A	TBCD_ENST00000397466.2_Missense_Mutation_p.P99A|TBCD_ENST00000539345.2_Missense_Mutation_p.P485A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	485					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GGAGCTGAAGCCCTTTGTGAC	0.647000													27	3					0	0	1	0	0
VEZF1	7716	broad.mit.edu	37	17	56060120	56060120	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:56060120G>C	ENST00000584396.1	-	2	729	c.641C>G	c.(640-642)tCt>tGt	p.S214C	VEZF1_ENST00000581208.1_Missense_Mutation_p.S223C			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	223					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TCCTTCATGAGACCTCACATG	0.448000													55	4					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732795	152732795	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:152732795C>A	ENST00000368773.1	+	2	789	c.731C>A	c.(730-732)aCt>aAt	p.T244N	KPRP_ENST00000606109.1_Missense_Mutation_p.T244N	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	244						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGAGCTTCACTGAACAGCAC	0.607000													69	130					1.08241e-25	1.37412e-25	1	1	0
PPP6R3	55291	broad.mit.edu	37	11	68312325	68312325	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:68312325G>T	ENST00000393799.2	+	4	514	c.247G>T	c.(247-249)Gag>Tag	p.E83*	PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000393800.2_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.E83*|PPP6R3_ENST00000534534.1_5'UTR|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.E83*			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	83					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TATATCTTGTGAGTTGCTCAC	0.343000													36	16					2.51541e-25	3.17083e-25	1	1	0
SEMA4G	57715	broad.mit.edu	37	10	102732979	102732979	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:102732979G>A	ENST00000210633.3	+	2	296	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	SEMA4G_ENST00000517724.1_Missense_Mutation_p.R73Q|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000370250.4_Missense_Mutation_p.R73Q			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	73	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GTGGGAGCCCGAGGTGCCCTG	0.602000													21	23					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87525410	87525410	+	Silent	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:87525410G>A	ENST00000268616.4	-	1	241	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	8					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGTGGAAGCTGAAGGCCGGGT	0.677000													31	17					0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66691249	66691249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:66691249G>A	ENST00000488550.1	+	7	938	c.639G>A	c.(637-639)tgG>tgA	p.W213*	MEIS1_ENST00000495021.2_Nonsense_Mutation_p.W148*|MEIS1_ENST00000272369.9_Nonsense_Mutation_p.W213*|MEIS1_ENST00000398506.2_Nonsense_Mutation_p.W211*|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000560281.2_Nonsense_Mutation_p.W213*|MEIS1_ENST00000444274.2_Nonsense_Mutation_p.W181*|MEIS1_ENST00000407092.2_Nonsense_Mutation_p.W213*			O00470	MEIS1_HUMAN	Meis homeobox 1	213	Ser/Thr-rich.						sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AGCCCTCTTGGAACAGAGATC	0.542000													3	2					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101216286	101216286	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:101216286C>G	ENST00000259455.2	-	7	1672	c.1213G>C	c.(1213-1215)Gag>Cag	p.E405Q		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	405					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AAGTTGGTCTCGTTCATGGCA	0.557000													51	5					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39364513	39364513	+	Silent	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr5:39364513G>T	ENST00000263408.4	-	1	149	c.54C>A	c.(52-54)atC>atA	p.I18I	C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	18					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GTGCTGTGAGGATGCTTATTT	0.512000													4	15					0.184627	0.185665	1	1	0
TSPAN2	10100	broad.mit.edu	37	1	115593159	115593159	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:115593159G>C	ENST00000369516.2	-	8	649	c.618C>G	c.(616-618)ttC>ttG	p.F206L	TSPAN2_ENST00000369515.2_Missense_Mutation_p.F181L|TSPAN2_ENST00000491992.1_5'UTR|TSPAN2_ENST00000369514.2_Missense_Mutation_p.F178L	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	206						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)		GGACCATGCTGAATATCATGC	0.403000													28	21					0	0	1	0	0
NELFB	25920	broad.mit.edu	37	9	140150814	140150814	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:140150814C>G	ENST00000343053.4	+	3	637	c.300C>G	c.(298-300)agC>agG	p.S100R		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		TGGAGAAGAGCTTTTCTCTGG	0.567000													77	91					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147108779	147108779	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:147108779G>T	ENST00000383075.3	-	4	1455	c.943C>A	c.(943-945)Cac>Aac	p.H315N	ZIC4_ENST00000525172.2_Missense_Mutation_p.H365N|ZIC4_ENST00000491672.1_Missense_Mutation_p.H109N|ZIC4_ENST00000473123.1_Missense_Mutation_p.H315N|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Missense_Mutation_p.H315N|ZIC4_ENST00000425731.3_Missense_Mutation_p.H353N	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	315						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGGGACTTGTGGCCGCAGTCC	0.697000													7	48					0.248553	0.248553	1	1	0
BMP6	654	broad.mit.edu	37	6	7727427	7727427	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:7727427A>G	ENST00000283147.6	+	1	398	c.239A>G	c.(238-240)cAg>cGg	p.Q80R		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	80					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CGGGAGATGCAGAAGGAGATC	0.746000													8	28					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230723591	230723591	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:230723591G>C	ENST00000283943.5	-	3	976	c.798C>G	c.(796-798)ttC>ttG	p.F266L	TRIP12_ENST00000409677.1_Missense_Mutation_p.F308L|TRIP12_ENST00000389044.4_Missense_Mutation_p.F308L|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.F308L	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	266					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTTTAGGGCTGAAACGAGCAG	0.468000													40	2					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152621877	152621877	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:152621877T>C	ENST00000367255.5	-	93	18182	c.17581A>G	c.(17581-17583)Act>Gct	p.T5861A	SYNE1_ENST00000341594.5_Missense_Mutation_p.T5473A|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5790A|SYNE1_ENST00000356820.4_Missense_Mutation_p.T385A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5861A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5790A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5861					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACTCCTCAGTGACCGGTGAC	0.493000										HNSCC(10;0.0054)			32	27					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215976396	215976396	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:215976396C>G	ENST00000272895.7	-	2	306	c.87G>C	c.(85-87)ttG>ttC	p.L29F	ABCA12_ENST00000412081.1_Missense_Mutation_p.L29F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	29					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCCATAAGATCAAGACAAGTG	0.303000													35	3					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65260017	65260017	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:65260017G>C	ENST00000389722.3	-	13	2417	c.2364C>G	c.(2362-2364)ttC>ttG	p.F788L	SPTB_ENST00000389721.5_Missense_Mutation_p.F788L|SPTB_ENST00000556626.1_Missense_Mutation_p.F788L|SPTB_ENST00000542895.1_Missense_Mutation_p.F788L|SPTB_ENST00000389720.3_Missense_Mutation_p.F788L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	788					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCTCCTCCAGGAAGTCCTTGT	0.632000													52	117					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63526202	63526202	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr18:63526202A>T	ENST00000536984.2	+	9	2108	c.1414A>T	c.(1414-1416)Ata>Tta	p.I472L	CDH7_ENST00000323011.3_Missense_Mutation_p.I472L|CDH7_ENST00000397968.2_Missense_Mutation_p.I472L			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	472	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGCCATCACTATACTTGACAT	0.428000													17	13					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194061797	194061797	+	Silent	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:194061797G>T	ENST00000323830.3	-	2	1724	c.1635C>A	c.(1633-1635)ccC>ccA	p.P545P	CPN2_ENST00000429275.1_Silent_p.P545P	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	545					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCTGCTACTAGGGCCCTGCTG	0.647000													5	28					5.9392e-07	6.56245e-07	1	1	0
A1BG	1	broad.mit.edu	37	19	58864318	58864318	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:58864318T>A	ENST00000263100.3	-	3	377	c.316A>T	c.(316-318)Aag>Tag	p.K106*	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	106	Ig-like V-type 1.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TCCAGGAGCTTGCTCAGCTGG	0.637000													87	48					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749536	22749536	+	RNA	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr4:22749536G>A	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGGCACTGCTGATTTTTTTGC	0.398000													4	1					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27772766	27772766	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr15:27772766G>C	ENST00000333743.6	+	8	1307	c.1053G>C	c.(1051-1053)aaG>aaC	p.K351N	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	351					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCACGAAGAAGACAACATCGG	0.488000													6	6					0	0	1	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896316	151896316	+	RNA	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chrX:151896316G>A	ENST00000361201.4	-	0	414					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						CTTCCTTGACGGGTCCCTGTT	0.537000													51	8					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172557963	172557963	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:172557963G>C	ENST00000367723.3	+	17	2302	c.2178G>C	c.(2176-2178)gaG>gaC	p.E726D	SUCO_ENST00000263688.3_Missense_Mutation_p.E574D	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CTCCAAAAGAGAGTCCCATTG	0.428000													10	8					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546608	9546608	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:9546608C>G	ENST00000378429.3	-	6	1960	c.1414G>C	c.(1414-1416)Ggg>Cgg	p.G472R	PAK7_ENST00000353224.5_Missense_Mutation_p.G472R|PAK7_ENST00000378423.1_Missense_Mutation_p.G472R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	472	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACTTGTTTCCCTGTGTGTTTC	0.502000													21	87					0	0	1	0	0
CD207	50489	broad.mit.edu	37	2	71060790	71060790	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:71060790C>A	ENST00000410009.3	-	3	597	c.552G>T	c.(550-552)ttG>ttT	p.L184F		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	184					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GTCGTTTGAGCAACTTGCTCA	0.478000													14	7					1.3612e-06	1.49482e-06	1	1	0
SLC30A4	7782	broad.mit.edu	37	15	45778867	45778867	+	Silent	SNP	A	A	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr15:45778867A>G	ENST00000261867.4	-	7	1391	c.1077T>C	c.(1075-1077)gaT>gaC	p.D359D	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	359					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		AGATATTTAAATCTTCGACTG	0.368000													43	70					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747091	94747091	+	Silent	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr8:94747091T>C	ENST00000399300.2	-	3	1761	c.1548A>G	c.(1546-1548)ccA>ccG	p.P516P	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.P516P	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	516							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGTATATTGGTGGGTCTTTTG	0.443000													45	62					0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416329	9416329	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:9416329G>A	ENST00000328089.6	+	2	720	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	SPSB1_ENST00000377399.2_Missense_Mutation_p.V127I|SPSB1_ENST00000357898.3_Missense_Mutation_p.V127I	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	127	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGCACTCTGTCGGGTACAC	0.652000													39	31					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25515919	25515919	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:25515919C>T	ENST00000329474.6	+	21	2017	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	550					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGTCCTTGTCCCTGGCTGAC	0.542000													7	13					0	0	1	0	0
TRIM47	91107	broad.mit.edu	37	17	73872555	73872555	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:73872555G>A	ENST00000254816.2	-	3	816	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Missense_Mutation_p.R26W	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	264						cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCCTCTCCCGCTCTGCTACG	0.652000													8	25					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791302	15791302	+	Silent	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:15791302C>A	ENST00000550308.1	+	5	878	c.498C>A	c.(496-498)atC>atA	p.I166I	CYP4F12_ENST00000324632.9_Silent_p.I166I	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ATATAACGATCTTCAACAAGA	0.532000													38	25					6.5261e-18	7.84008e-18	1	1	0
NRG3	10718	broad.mit.edu	37	10	84733553	84733553	+	Missense_Mutation	SNP	G	G	A	rs142991883	by1000genomes	TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:84733553G>A	ENST00000372142.2	+	8	905	c.631G>A	c.(631-633)Gtg>Atg	p.V211M	NRG3_ENST00000404547.1_Missense_Mutation_p.V432M|NRG3_ENST00000404576.2_Missense_Mutation_p.V236M|NRG3_ENST00000372141.2_Missense_Mutation_p.V432M|NRG3_ENST00000545131.1_Missense_Mutation_p.V82M|NRG3_ENST00000556918.1_Missense_Mutation_p.V262M|NRG3_ENST00000537893.1_Missense_Mutation_p.V82M	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	432	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GTATTCAAAGGTGGAAAGGCA	0.473000													16	27					0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954486	12954486	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:12954486A>G	ENST00000235347.4	-	3	876	c.797T>C	c.(796-798)cTg>cCg	p.L266P		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	266										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGTAGTACAGGCAGAGGAA	0.463000													30	99					0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62459908	62459908	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:62459908C>G	ENST00000433053.1	-	7	1359	c.803G>C	c.(802-804)aGc>aCc	p.S268T	BSCL2_ENST00000360796.5_Missense_Mutation_p.S268T|BSCL2_ENST00000278893.7_Missense_Mutation_p.S204T|BSCL2_ENST00000407022.3_Missense_Mutation_p.S204T|BSCL2_ENST00000403550.1_Missense_Mutation_p.S204T|BSCL2_ENST00000421906.1_Missense_Mutation_p.S204T|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Missense_Mutation_p.S268T			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	204					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GATGCGCTTGCTGTGGATCTC	0.622000													18	47					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135738628	135738628	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:135738628T>C	ENST00000375845.3	-	9	3713	c.3683A>G	c.(3682-3684)cAt>cGt	p.H1228R	MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.H360R|MAP3K19_ENST00000375844.3_Missense_Mutation_p.H410R|MAP3K19_ENST00000315513.3_Missense_Mutation_p.H89R|MAP3K19_ENST00000392918.3_Missense_Mutation_p.H362R|MAP3K19_ENST00000358371.4_Missense_Mutation_p.H1115R	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TGGAGTCCCATGCATGGACTT	0.478000													46	5					0	0	1	0	0
NRF1	4899	broad.mit.edu	37	7	129311379	129311379	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:129311379C>A	ENST00000393232.1	+	3	451	c.334C>A	c.(334-336)Ctt>Att	p.L112I	NRF1_ENST00000539636.1_Intron|NRF1_ENST00000393230.2_Missense_Mutation_p.L112I|NRF1_ENST00000353868.4_Missense_Mutation_p.L112I|NRF1_ENST00000311967.2_Missense_Mutation_p.L112I|NRF1_ENST00000223190.4_Missense_Mutation_p.L112I|NRF1_ENST00000393231.3_Missense_Mutation_p.L112I	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	112					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						AACACGTTTGCTTCGGTGAGG	0.448000													18	5					5.3912e-06	5.8843e-06	1	1	0
MAVS	57506	broad.mit.edu	37	20	3846449	3846449	+	Silent	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:3846449C>A	ENST00000428216.2	+	7	1406	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S	MAVS_ENST00000416600.2_Silent_p.S285S|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	426					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGCTGGCATCCCAGGTAGACA	0.642000													21	30					1.96292e-10	2.25233e-10	1	1	0
OR56B4	196335	broad.mit.edu	37	11	6129291	6129291	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:6129291G>T	ENST00000316529.3	+	1	378	c.283G>T	c.(283-285)Gcc>Tcc	p.A95S		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGTTTGATGCCAAGGCCAT	0.507000													51	11					4.18559e-23	5.20292e-23	1	1	0
MAP3K1	4214	broad.mit.edu	37	5	56177591	56177591	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr5:56177591G>A	ENST00000399503.3	+	14	2564	c.2564G>A	c.(2563-2565)cGt>cAt	p.R855H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	855					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATGCGTCGCCGTTTGATGGCT	0.473000													4	66					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578642	44578642	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:44578642G>C	ENST00000289547.4	-	2	1409	c.1354C>G	c.(1354-1356)Cgg>Ggg	p.R452G	NPC1L1_ENST00000423141.1_Missense_Mutation_p.R452G|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R452G|NPC1L1_ENST00000546276.1_Missense_Mutation_p.R452G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	452					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGGAGGTGCCGCAGCCTCTCC	0.597000													28	18					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K														p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338000													4	73					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77662323	77662323	+	Silent	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr4:77662323G>A	ENST00000296043.6	+	5	3950	c.2997G>A	c.(2995-2997)gtG>gtA	p.V999V		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	999	ASD1.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCAGGCCCGTGCCCCCTGCCG	0.741000													3	1					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70020388	70020388	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:70020388G>A	ENST00000325845.7	-	21	2169	c.100C>T	c.(100-102)Cgt>Tgt	p.R34C	PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR|RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.R49C														p.R49C(2)|p.R34C(1)		breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						TCACGATGACGATGGTCAGCC	0.363000													5	63					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28326847	28326847	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr15:28326847C>A	ENST00000354638.3	-	2	329	c.174G>T	c.(172-174)caG>caT	p.Q58H	OCA2_ENST00000382996.2_Missense_Mutation_p.Q58H|OCA2_ENST00000353809.5_Missense_Mutation_p.Q58H	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	58					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.Q58H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCCAAGAGCTCTGCCCGGCAG	0.597000									Oculocutaneous Albinism				10	20					1.08611e-07	1.20754e-07	1	1	0
OR2B6	26212	broad.mit.edu	37	6	27925464	27925464	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:27925464G>C	ENST00000244623.1	+	1	446	c.446G>C	c.(445-447)tGg>tCg	p.W149S		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTGCATCCTGGGTTACTGGT	0.493000													47	88					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851447	34851447	+	Silent	SNP	C	C	T	rs116733850	byFrequency	TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:34851447C>T	ENST00000360581.1	+	4	578	c.450C>T	c.(448-450)atC>atT	p.I150I	NPSR1_ENST00000359791.1_Silent_p.I150I|NPSR1_ENST00000381539.3_Silent_p.I150I|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Silent_p.I139I	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	150						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ACCATGCCATCGTCTACCCCA	0.468000													49	91					0	0	1	0	0
AK3	50808	broad.mit.edu	37	9	4718523	4718523	+	Silent	SNP	C	C	G			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:4718523C>G	ENST00000381809.3	-	4	689	c.459G>C	c.(457-459)ctG>ctC	p.L153L	AK3_ENST00000359883.2_Silent_p.L83L|AK3_ENST00000447596.4_Silent_p.L113L	NM_016282.3	NP_057366.2	Q9UIJ7	KAD3_HUMAN	adenylate kinase 3	153					blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)		GCTCCCCAGTCAGGTCATCAA	0.378000													21	6					0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201334340	201334340	+	Silent	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:201334340G>A	ENST00000509001.1	-	9	646	c.360C>T	c.(358-360)ctC>ctT	p.L120L	TNNT2_ENST00000367315.2_Silent_p.L120L|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000367322.1_Silent_p.L120L|TNNT2_ENST00000367317.4_Silent_p.L120L|TNNT2_ENST00000421663.2_Silent_p.L122L|TNNT2_ENST00000458432.2_Silent_p.L132L|TNNT2_ENST00000236918.7_Silent_p.L125L|TNNT2_ENST00000360372.4_Silent_p.L115L|TNNT2_ENST00000367318.5_Silent_p.L120L	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	130			F -> I (in CMH2).|F -> V (in CMH2).		ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TGAGAGAAACGAGCTCCTCCT	0.547000													26	139					0	0	1	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416310	57416310	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:57416310G>C	ENST00000565912.1	+	2	3152	c.446G>C	c.(445-447)cGa>cCa	p.R149P	CX3CL1_ENST00000006053.6_Missense_Mutation_p.R187P|CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Missense_Mutation_p.R193P			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	187	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAGCTTTTCCGAGTGCCTCCC	0.682000													21	65					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72267113	72267113	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr8:72267113G>T	ENST00000340726.3	-	3	667	c.28C>A	c.(28-30)Cat>Aat	p.H10N	EYA1_ENST00000303824.7_Missense_Mutation_p.H10N|EYA1_ENST00000419131.1_Missense_Mutation_p.H10N|EYA1_ENST00000388740.3_Intron|EYA1_ENST00000388742.4_Missense_Mutation_p.H10N|EYA1_ENST00000388743.2_Missense_Mutation_p.H10N|EYA1_ENST00000388741.2_Intron	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	10					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGACGGCTATGCGGGCTGGTT	0.453000													55	87					3.21867e-24	4.02897e-24	1	1	0
PLEKHG1	57480	broad.mit.edu	37	6	151152226	151152226	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr6:151152226T>A	ENST00000367328.1	+	16	2291	c.1979T>A	c.(1978-1980)gTc>gAc	p.V660D	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.V660D	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	660					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATAGACCATGTCTATGATAAC	0.473000													18	18					0	0	1	0	0
BTLA	151888	broad.mit.edu	37	3	112198587	112198587	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr3:112198587T>C	ENST00000334529.5	-	2	320	c.118A>G	c.(118-120)Ata>Gta	p.I40V	BTLA_ENST00000383680.4_Missense_Mutation_p.I40V	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	40					T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TGTCTCTTTATATAAAGCTGT	0.358000													24	22					0	0	1	0	0
YAP1	10413	broad.mit.edu	37	11	101981896	101981896	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:101981896G>A	ENST00000282441.5	+	1	705	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	YAP1_ENST00000531439.1_Missense_Mutation_p.R106Q|YAP1_ENST00000526343.1_Missense_Mutation_p.R106Q|YAP1_ENST00000537274.1_Missense_Mutation_p.R106Q|YAP1_ENST00000345877.2_Missense_Mutation_p.R106Q	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Yes-associated protein 1	106					cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TCCCACTCCCGACAGGTAACC	0.701000													21	87					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114640424	114640424	+	Silent	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr1:114640424G>A	ENST00000393296.1	-	6	1517	c.1440C>T	c.(1438-1440)aaC>aaT	p.N480N	SYT6_ENST00000369547.1_Silent_p.N395N			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	480					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.N395K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		CCAGCATCTCGTTCCAGTGGT	0.572000													51	42					0	0	1	0	0
GPHB5	122876	broad.mit.edu	37	14	63784523	63784523	+	RNA	SNP	A	A	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:63784523A>T	ENST00000539258.1	-	0	97							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity	p.L14P(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		AGCCAGAAGGAGGAGGGCCAT	0.577000													30	55					0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90032319	90032319	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:90032319G>A	ENST00000563594.1	+	13	2301	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N	DEF8_ENST00000563795.1_Missense_Mutation_p.S418N|DEF8_ENST00000268676.7_Missense_Mutation_p.S496N|DEF8_ENST00000570182.1_Missense_Mutation_p.S425N|DEF8_ENST00000569453.1_Missense_Mutation_p.S435N|DEF8_ENST00000567874.1_Missense_Mutation_p.S375N	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	496					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GCCCGGCTCAGCCTGAGGAAG	0.652000													15	26					0	0	1	0	0
FAM76B	143684	broad.mit.edu	37	11	95521688	95521688	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr11:95521688A>T	ENST00000358780.5	-	2	439	c.127T>A	c.(127-129)Tgc>Agc	p.C43S	FAM76B_ENST00000538047.1_5'UTR|FAM76B_ENST00000536839.1_Missense_Mutation_p.C43S	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	43										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTGATCTGCAGTAAGTACAT	0.353000													17	56					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718763	42718763	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr5:42718763G>A	ENST00000230882.4	+	10	1344	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.G198E|GHR_ENST00000357703.3_Missense_Mutation_p.G363E	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	385					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGCGACTCTGGACGTACCAGC	0.468000													24	61					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349566	89349566	+	Silent	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr16:89349566G>A	ENST00000301030.4	-	9	3844	c.3384C>T	c.(3382-3384)gaC>gaT	p.D1128D	ANKRD11_ENST00000378330.2_Silent_p.D1128D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1128	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCATGCAGCTGTCTCTGTCGT	0.542000													124	48					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117486782	117486782	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:117486782A>T	ENST00000355044.3	+	27	3946	c.3820A>T	c.(3820-3822)Atg>Ttg	p.M1274L	ATRNL1_ENST00000423111.2_Missense_Mutation_p.M325L|ATRNL1_ENST00000303745.7_Missense_Mutation_p.M67L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1274						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACGACAGCAGATGGCCAGCCG	0.458000													11	19					0	0	1	0	0
SLC2A11	66035	broad.mit.edu	37	22	24224735	24224735	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr22:24224735C>T	ENST00000345044.6	+	7	1043	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000398356.2_Missense_Mutation_p.R266W|SLC2A11_ENST00000316185.8_Missense_Mutation_p.R262W|AP000350.10_ENST00000433835.3_Intron			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	259						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CTGCCGTGCCCGGCGCCCATG	0.697000													11	17					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58238811	58238811	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:58238811G>A	ENST00000317398.6	-	1	181	c.86C>T	c.(85-87)cCg>cTg	p.P29L	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_5'UTR|ZNF671_ENST00000596939.1_Missense_Mutation_p.P29L|ZNF671_ENST00000594803.1_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACAGCTGCCGGGAGCGGCAG	0.687000													8	21					0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42814891	42814891	+	Silent	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr19:42814891G>A	ENST00000499536.2	+	2	1881	c.1070G>A	c.(1069-1071)tGa>tAa	p.*357*	PRR19_ENST00000341747.3_Silent_p.*357*|PRR19_ENST00000598490.1_3'UTR			A6NJB7	PRR19_HUMAN	proline rich 19	0										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				AGACTGTACTGAGGAGAGGCT	0.552000													15	45					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43596020	43596020	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr10:43596020G>A	ENST00000355710.3	+	2	419	c.187G>A	c.(187-189)Gtg>Atg	p.V63M	RET_ENST00000340058.5_Missense_Mutation_p.V63M	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	63					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCCTGAGGAGGTGCCCAGCTT	0.627000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				7	26					0	0	1	0	0
ABCB6	10058	broad.mit.edu	37	2	220082999	220082999	+	Silent	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr2:220082999G>T	ENST00000265316.3	-	1	713	c.397C>A	c.(397-399)Cgg>Agg	p.R133R	ABCB6_ENST00000439002.2_Silent_p.R133R	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	133					cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACGCTGCCGTGCCTGGCTC	0.642000													72	58					7.46257e-40	9.75036e-40	1	1	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103504604	103504604	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr13:103504604G>T	ENST00000602836.1	+	10	1501	c.1501G>T	c.(1501-1503)Gtt>Ttt	p.V501F	ERCC5_ENST00000355739.4_Silent_p.V75V|ERCC5_ENST00000535557.1_Silent_p.V75V	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										CTATTTTTGTGTTTGATGGGG	0.363000													8	15					1.12685e-05	1.2151e-05	1	1	0
COL28A1	340267	broad.mit.edu	37	7	7413146	7413146	+	Silent	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:7413146T>C	ENST00000399429.3	-	32	2531	c.2391A>G	c.(2389-2391)ctA>ctG	p.L797L		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	797					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACACCAGCTCTAGTGGAGTCT	0.458000													29	51					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48164423	48164423	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr20:48164423T>C	ENST00000244043.4	-	3	361	c.332A>G	c.(331-333)cAg>cGg	p.Q111R	PTGIS_ENST00000478971.1_Intron	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	111					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	ATGTGGAAGCTGCACATCAAA	0.567000													106	137					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96418870	96418870	+	Silent	SNP	A	A	C			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:96418870A>C	ENST00000359246.4	+	9	1507	c.1140A>C	c.(1138-1140)gcA>gcC	p.A380A	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	380					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGCTGGAGGCATTCAAAGGTA	0.582000													31	81					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38273972	38273972	+	Silent	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:38273972C>T	ENST00000553443.1	+	21	4117	c.4117C>T	c.(4117-4119)Ctg>Ttg	p.L1373L	TTC6_ENST00000267368.7_Silent_p.L104L|TTC6_ENST00000476979.1_Silent_p.L104L|TTC6_ENST00000382320.3_Silent_p.L87L					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		AGCAGACTGTCTGTATAACTT	0.378000													71	50					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6730867	6730867	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr7:6730867C>T	ENST00000405858.1	-	5	2247	c.1706G>A	c.(1705-1707)aGa>aAa	p.R569K	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.R531K|ZNF12_ENST00000404360.1_Missense_Mutation_p.R495K	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	569					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGAATGAATTCTATGATGTAT	0.408000													4	69					0	0	1	0	0
AJUBA	84962	broad.mit.edu	37	14	23444314	23444314	+	Splice_Site	SNP	C	C	A			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr14:23444314C>A	ENST00000262713.2	-	5	1615		c.e5-1		RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Splice_Site|AJUBA_ENST00000397388.3_Splice_Site	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein						cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CTTGTAGGATCTGGCTCATGG	0.517000													12	33					0.00185496	0.00194174	1	1	0
NOL8	55035	broad.mit.edu	37	9	95077738	95077738	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:95077738delT	ENST00000545558.1	-	7	1661	c.1169delA	c.(1168-1170)atfs	p.N390fs	NOL8_ENST00000535387.1_Frame_Shift_Del_p.N390fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.N322fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.N322fs|NOL8_ENST00000442668.2_Frame_Shift_Del_p.N390fs			Q76FK4	NOL8_HUMAN	nucleolar protein 8	390					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTTAGCAACATTTTTTTTCAT	0.323													2	4	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													7	62	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aag>aa	p.NK168del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596													9	556	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578547	7578547	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:7578547delG	ENST00000420246.2	-	5	515	c.383delC	c.(382-384)ctfs	p.P128fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P128fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P128fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	128	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (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.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.Y126fs*18(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)		GTTGAGGGCAGGGGAGTACTG	0.562		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)			65	8	---	---	---	---					
FOXJ1	2302	broad.mit.edu	37	17	74133646	74133648	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr17:74133646_74133648delGGC	ENST00000322957.6	-	3	1406_1408	c.1052_1054delGCC	c.(1051-1056)cac>c	p.RH351del		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	351					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CAGTCGATGTGGCGGCCGTGGAT	0.690													7	3	---	---	---	---					
PHLPP1	23239	broad.mit.edu	37	18	60646563	60646565	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-D6-A6EP-01A-11D-A31L-08	TCGA-D6-A6EP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0de1af31-a4a8-42a2-92d2-c7087873e307	9a1e384d-40e6-4e8b-9290-fb655463b8e8	g.chr18:60646563_60646565delCAG	ENST00000400316.4	+	17	5298_5300	c.3517_3519delCAG	c.(3517-3519)del	p.Q1177del	PHLPP1_ENST00000262719.5_In_Frame_Del_p.Q1689del	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1689	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						ccaggagcaacagcagcagcagc	0.586													2	4	---	---	---	---					
