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
FLJ00322	0	broad.mit.edu	37	16	15023266	15023266	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr16:15023266C>G	uc010uzk.2	+	5	1111	c.835C>G	c.(835-837)Ctg>Gtg	p.L279V	NPIP_uc002dcx.4_Non-coding_Transcript					SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																		CGAGGAGCCCCTGACGCTGGC	0.701000													3	27					0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40744	40744	+	Silent	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chrGL000218.1:40744G>A	uc011mfn.2	-	2	275	c.186C>T	c.(184-186)tcC>tcT	p.S62S	LOC100233156_uc003jah.2_Silent_p.S62S					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		CCAGGTCCTCGGAGGTGTCGC	0.647000													7	25					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr3:195515449A>T	uc021xjp.1	-	1	3158	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1006	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587000													3	9					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51749089	51749089	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:51749089C>G	uc001jix.4	+	1	643	c.245C>G	c.(244-246)gCc>gGc	p.A82G		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	82					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.A82G(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AACCTTTCTGCCAATCCAGAG	0.343000													7	69					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													5	1					0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000													6	45					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	72					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24901309	24901309	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:24901309G>T	uc010tpc.2	+	2	981	c.965G>T	c.(964-966)tGg>tTg	p.W322L	KHNYN_uc001wph.4_Missense_Mutation_p.W281L|KHNYN_uc010alw.3_Missense_Mutation_p.W281L|CBLN3_uc001wpg.4_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	281								p.W281L(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAGAGGCGTGGGAGAGAGAA	0.622000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	34					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30363692	30363692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr20:30363692G>T	uc002wwp.1	+	7	1329	c.631G>T	c.(631-633)Gag>Tag	p.E211*	TPX2_uc010gdv.1_Nonsense_Mutation_p.E211*	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	211					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.E211*(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAAAAGTACTGAGGAGCAAGA	0.418000													24	54					0	0	1	0	0
RWDD2A	112611	broad.mit.edu	37	6	83905528	83905528	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:83905528A>T	uc003pjx.4	+	2	687	c.416A>T	c.(415-417)aAg>aTg	p.K139M	PGM3_uc003pju.2_5'Flank|PGM3_uc003pjw.3_5'Flank|PGM3_uc011dyz.2_5'Flank|PGM3_uc021zcd.1_5'Flank|RWDD2A_uc011dza.2_Missense_Mutation_p.K64M	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN	Homo sapiens RWD domain containing 2A (RWDD2A), mRNA.	139								p.K139M(2)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		CTGAACAGAAAGCTTGTATAT	0.433000													42	69					0	0	1	0	0
B3GAT3	26229	broad.mit.edu	37	11	62384117	62384117	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:62384117G>A	uc001ntw.3	-	3	998	c.770C>T	c.(769-771)gCc>gTc	p.A257V	B3GAT3_uc001ntx.3_Non-coding_Transcript|B3GAT3_uc009ynz.3_Missense_Mutation_p.A250V|B3GAT3_uc010rlz.2_Missense_Mutation_p.A257V	NM_012200	NP_036332	O94766	B3GA3_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) (B3GAT3), mRNA.	257					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	p.A257V(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CAGGGCCACGGCAAATCCAGC	0.612000													3	52					0	0	1	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:61161357T>G	uc021qkf.1	+	3	409	c.137_splice	c.e3-1	p.G46_splice	TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000													9	39					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54642959	54642959	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr5:54642959A>C	uc003jpy.4	+	10	1493	c.1227A>C	c.(1225-1227)ttA>ttC	p.L409F	SKIV2L2_uc011cqi.2_Missense_Mutation_p.L308F	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	409	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.L409F(2)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGACCAAATTAGATTTCAACA	0.269000													27	68					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32150183	32150183	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:32150183G>A	uc001btk.1	-	30	2466	c.2101C>T	c.(2101-2103)Cgg>Tgg	p.R701W	COL16A1_uc001btj.1_Missense_Mutation_p.R530W|COL16A1_uc001btl.4_Missense_Mutation_p.R701W	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	701	Triple-helical region 6 (COL6) with 1 imperfection.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	p.R701W(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGTCCTGGCCGCCCTGTGGTG	0.637000													11	81					0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7021497	7021497	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:7021497G>C	uc009yfh.1	-	2	1716	c.1417C>G	c.(1417-1419)Cct>Gct	p.P473A	ZNF214_uc001mfa.2_Missense_Mutation_p.P473A|ZNF214_uc010ray.1_Missense_Mutation_p.P473A	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P473A(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CCACATTCAGGACAAGTATAG	0.438000													12	52					0	0	1	0	0
SIX2	10736	broad.mit.edu	37	2	45233549	45233549	+	Silent	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:45233549C>T	uc002ruo.3	-	1	929	c.636G>A	c.(634-636)tcG>tcA	p.S212S		NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	Homo sapiens SIX homeobox 2 (SIX2), mRNA.	212						nucleus	sequence-specific DNA binding transcription factor activity	p.S212S(4)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTCATCCTCCGAGCTGCCTA	0.632000													39	105					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26620449	26620449	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:26620449G>T	uc001mqt.4	+	15	1720	c.1575G>T	c.(1573-1575)gaG>gaT	p.E525D	ANO3_uc010rdr.2_Missense_Mutation_p.E509D|ANO3_uc010rds.2_Missense_Mutation_p.E364D|ANO3_uc010rdt.2_Missense_Mutation_p.E379D	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	525						chloride channel complex	chloride channel activity	p.E525D(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ACAAGATGGAGATTGTAAATC	0.383000													9	31					0	0	1	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138197133	138197133	+	Splice_Site	SNP	A	A	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:138197133A>G	uc003qhr.3	+	5	701	c.635_splice	c.e5-1	p.D212_splice	TNFAIP3_uc003qhs.3_Splice_Site_p.D212_splice|TNFAIP3_uc021zfv.1_Intron	NM_006290	NP_006281	P21580	TNAP3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA.	212	OTU.|TRAF-binding.				B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	DNA binding|caspase inhibitor activity|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.D212G(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTTTGAACAGACAAAATGCTA	0.438000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								20	78					0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36974956	36974956	+	Silent	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr20:36974956C>T	uc002xic.1	+	0	72	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	13					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.L13L(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GTCCATACTGCTGGCATTGCT	0.617000													11	117					0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105349541	105349541	+	Silent	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:105349541G>A	uc001yps.3	+	6	843	c.537G>A	c.(535-537)acG>acA	p.T179T	KIAA0284_uc010axb.3_Silent_p.T179T	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	249						cytoplasm|microtubule		p.T249T(2)|p.T180T(1)|p.T179T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		AGATGCCCACGAAGGATGCAG	0.667000													6	36					0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	796543	796543	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr7:796543G>C	uc010krz.1	+	5	1402	c.1382G>C	c.(1381-1383)cGg>cCg	p.R461P	HEATR2_uc003siz.2_Missense_Mutation_p.R329P	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	461							protein binding	p.R461P(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TCCGCCATGCGGGGTTGCCCC	0.622000													11	84					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200960075	200960075	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:200960075G>T	uc001gvs.2	-	17	2974	c.2657C>A	c.(2656-2658)gCg>gAg	p.A886E	KIF21B_uc009wzl.2_Missense_Mutation_p.A886E|KIF21B_uc001gvr.2_Missense_Mutation_p.A886E|KIF21B_uc010ppn.2_Missense_Mutation_p.A886E	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	886					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A886E(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GACAGTGGGCGCAGGATGGTC	0.632000													7	96					0	0	1	0	0
QKI	9444	broad.mit.edu	37	6	163983069	163983069	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:163983069A>G	uc003qui.3	+	4	1153	c.602A>G	c.(601-603)aAt>aGt	p.N201S	QKI_uc003quj.3_Missense_Mutation_p.N201S|QKI_uc003quh.3_Missense_Mutation_p.N201S|QKI_uc003que.3_Missense_Mutation_p.N201S|QKI_uc003quf.3_Missense_Mutation_p.N201S|QKI_uc003qug.3_Missense_Mutation_p.N201S	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	201					RNA splicing|mRNA processing|mRNA transport|regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	p.N201S(3)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCGATTCTGAATGGCACCTAC	0.448000													20	41					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501649	12501649	+	Silent	SNP	T	T	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:12501649T>A	uc010dyt.3	-	3	1767	c.1563A>T	c.(1561-1563)gtA>gtT	p.V521V	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V308V(1)|p.V521V(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCTTTCATGTACTTTTAAGT	0.388000													5	76					0	0	1	0	0
PFN2	5217	broad.mit.edu	37	3	149686232	149686232	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr3:149686232C>A	uc003ext.1	-	1	336	c.238G>T	c.(238-240)Gtc>Ttc	p.V80F	PFN2_uc003exu.1_Missense_Mutation_p.V80F|PFN2_uc011bnu.1_Missense_Mutation_p.V80F|LOC646903_uc021xfo.1_5'Flank	NM_053024	NP_444252	P35080	PROF2_HUMAN	Homo sapiens profilin 2 (PFN2), transcript variant 1, mRNA.	80					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	p.V80F(3)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCACCATCGACGTATAGACTA	0.473000													70	190					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46915974	46915974	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:46915974T>C	uc002pep.3	-	0	946	c.94A>G	c.(94-96)Acc>Gcc	p.T32A		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	32						plasma membrane		p.T32A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		gcttccttggtggcgggctta	0.637000													3	78					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9739734	9739734	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:9739734T>A	uc002gmd.1	+	2	324	c.324T>A	c.(322-324)caT>caA	p.H108Q	GLP2R_uc010cog.1_Non-coding_Transcript	NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	108					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.H108Q(2)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTTGGCCTCATTCTTCTCCTG	0.428000													15	140					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80129645	80129645	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:80129645T>C	uc002kdx.1	-	11	1851	c.1814A>G	c.(1813-1815)gAt>gGt	p.D605G	CCDC57_uc010dik.1_Missense_Mutation_p.D113G|CCDC57_uc002kdz.1_Missense_Mutation_p.D605G	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	605								p.D605G(3)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTTTAAAGGATCCAACACATC	0.468000													5	92					0	0	1	0	0
RPSA	3921	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:24010294C>G	uc002nrn.3	+	3	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	111	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.Q111E(12)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTTCACTAACCAGATCCAGGC	0.567000													3	59					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	7	38305254	38305254	+	Silent	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr7:38305254G>A	uc003tge.1	-	4	830	c.453C>T	c.(451-453)tcC>tcT	p.S151S	ARPP21_uc022aby.1_5'UTR|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_5'UTR|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						cytoplasm	nucleic acid binding	p.H150Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGGGCTTGGGGGAAACATCTG	0.378000													81	196					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79786791	79786791	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr4:79786791C>T	uc003hlk.3	+	9	1314	c.1148C>T	c.(1147-1149)aCt>aTt	p.T383I	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Missense_Mutation_p.T383I	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	383						nucleus	ATP binding|protein serine/threonine kinase activity	p.T383I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ACTACTGCCACTCCCAGTGTG	0.443000													15	69					0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113822716	113822716	+	Silent	SNP	C	C	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr12:113822716C>G	uc001tve.2	+	7	1214	c.1179C>G	c.(1177-1179)ccC>ccG	p.P393P	PLBD2_uc001tvf.2_Intron	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	393					lipid catabolic process	lysosomal lumen	hydrolase activity	p.P393P(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGCCCAGCCCCGGGAGCCGGG	0.667000													3	39					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124399457	124399457	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr12:124399457A>C	uc001uft.4	+	60	10304	c.10279A>C	c.(10279-10281)Acc>Ccc	p.T3427P		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3427	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T2019P(1)|p.T3427P(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CATCCTCACCACCCGGGCCAG	0.552000													5	10					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220331957	220331957	+	Silent	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:220331957C>T	uc010fwg.3	+	9	2943	c.2943C>T	c.(2941-2943)gcC>gcT	p.A981A		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	981	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.A981A(3)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACGTGGGGGCCGGGGAGATGG	0.692000											OREG0004000	type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	57	104					0	0	1	0	0
AGAP9	642517	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:47207813T>C	uc009xnf.2	-	4	508	c.396_splice	c.e4+1	p.H132_splice	AGAP9_uc001jei.3_Splice_Site	NM_001190810	NP_001177739	D3YTF3	D3YTF3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA.	132					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.H228R(20)									TTTACTTACATGGTTTGTACA	0.294000													3	18					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000													6	55					0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27283058	27283058	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr7:27283058G>A	uc003szd.1	+	0	895	c.409G>A	c.(409-411)Gag>Aag	p.E137K	EVX1_uc011jzn.1_Intron|EVX1_uc010kuy.1_Intron	NM_001989	NP_001980	P49640	EVX1_HUMAN	Homo sapiens even-skipped homeobox 1 (EVX1), mRNA.	137						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E137K(2)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGGGAACGCCGAGTACCAGCA	0.657000													4	41					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064360	9064360	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:9064360C>T	uc002mkp.3	-	2	23290	c.23086G>A	c.(23086-23088)Gtg>Atg	p.V7696M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7698	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V7696M(3)|p.V3329M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGAGGTCACGGCAGGTAAA	0.582000													16	56					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44104060	44104060	+	Splice_Site	SNP	A	A	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:44104060A>T	uc010qfc.2	+	3	219	c.25_splice	c.e3-2	p.G9_splice	ZNF485_uc010qfd.2_Intron	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	Homo sapiens zinc finger protein 485 (ZNF485), mRNA.	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTGGTTTTGCAGGGACCGCTG	0.562000													6	15					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356642	10356642	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:10356642T>G	uc002gmn.3	-	23	3049	c.2938A>C	c.(2938-2940)Aaa>Caa	p.K980Q	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	980					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K980Q(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGAGGTTTTTCACCTTTAGA	0.438000													38	90					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38555127	38555127	+	Silent	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:38555127G>T	uc002huq.3	-	25	3510	c.3351C>A	c.(3349-3351)tcC>tcA	p.S1117S	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	1117					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	p.S1117S(2)|p.S1117C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AATCTGTTACGGAGTCACTCT	0.353000													8	57					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51749117	51749117	+	Silent	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:51749117G>A	uc001jix.4	+	1	671	c.273G>A	c.(271-273)caG>caA	p.Q91Q		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	91					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.Q91Q(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CAATATTCCAGAGGAACTCTC	0.358000													5	66					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65687537	65687537	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr15:65687537G>A	uc002aou.1	-	7	1681	c.1471C>T	c.(1471-1473)Cgg>Tgg	p.R491W	IGDCC4_uc002aot.1_Missense_Mutation_p.R79W	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	491	Fibronectin type-III 1.					integral to membrane|plasma membrane		p.R491W(2)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCCAGGTCCCGAACCTGTAGT	0.572000													18	39					0	0	1	0	0
SLC16A10	117247	broad.mit.edu	37	6	111498553	111498553	+	Silent	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:111498553C>T	uc003pus.3	+	2	802	c.627C>T	c.(625-627)ggC>ggT	p.G209G	SLC16A10_uc003pur.4_Silent_p.G209G|SLC16A10_uc003put.3_5'UTR	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.	209					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	p.G209G(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TCACTGCTGGCAGCAGTGTCT	0.498000													28	78					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91781959	91781959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:91781959C>A	uc001doa.4	-	25	2986	c.2887G>T	c.(2887-2889)Gaa>Taa	p.E963*	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Nonsense_Mutation_p.E642*|HFM1_uc001dob.4_Nonsense_Mutation_p.E151*|HFM1_uc010osv.1_Nonsense_Mutation_p.E647*	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	963	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E963*(2)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATTCAAGTTCCCTTGCATCT	0.303000													7	86					0	0	1	0	0
SIX1	6495	broad.mit.edu	37	14	61115639	61115639	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:61115639G>A	uc001xfb.4	-	0	517	c.269C>T	c.(268-270)gCg>gTg	p.A90V		NM_005982	NP_005973	Q15475	SIX1_HUMAN	Homo sapiens SIX homeobox 1 (SIX1), mRNA.	90					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.A90V(2)|p.A90A(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CACGTAATGCGCCTTCAGCCA	0.627000													6	189					0	0	1	0	0
ADA	100	broad.mit.edu	37	20	43257807	43257807	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr20:43257807C>A	uc002xmj.3	-	2	227	c.99G>T	c.(97-99)agG>agT	p.R33S		NM_000022	NP_000013	P00813	ADA_HUMAN	Homo sapiens adenosine deaminase (ADA), mRNA.	33					T cell activation|adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	p.R33S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CGATCCCTCTCCTCCTGGAAA	0.602000									Adenosine Deaminase Deficiency				14	66					0	0	1	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42538870	42538870	+	Missense_Mutation	SNP	A	A	C	rs2982057	by1000genomes	TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr22:42538870A>C	uc003bci.3	-	2	475	c.94T>G	c.(94-96)Tcg>Gcg	p.S32A	CYP2D7P1_uc003bcg.3_5'Flank|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_5'Flank|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.S32A					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													3	32					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81422160	81422160	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:81422160C>T	uc001xvd.1	+	0	292	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	CEP128_uc001xva.1_Intron|TSHR_uc001xvb.1_Missense_Mutation_p.R46C|TSHR_uc001xvc.3_Missense_Mutation_p.R46C|TSHR_uc010tvs.2_Missense_Mutation_p.R46C	NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	46					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.R46C(4)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGATATTCAACGCATCCCCAG	0.607000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						31	92					0	0	1	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9558813	9558813	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:9558813C>T	uc002qzj.3	-	1	191	c.14G>A	c.(13-15)gGc>gAc	p.G5D	ITGB1BP1_uc002qzm.3_Non-coding_Transcript|ITGB1BP1_uc002qzk.3_Missense_Mutation_p.G5D|ITGB1BP1_uc002qzl.3_Non-coding_Transcript|ITGB1BP1_uc010yiy.2_Intron|ITGB1BP1_uc002qzn.1_Missense_Mutation_p.G5D	NM_004763	NP_004754	O14713	ITBP1_HUMAN	Homo sapiens integrin beta 1 binding protein 1 (ITGB1BP1), transcript variant 1, mRNA.	5					cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	p.G5D(2)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TCGTTTTTTGCCCTTGCGAAA	0.393000													5	231					0	0	1	0	0
FOXL1	2300	broad.mit.edu	37	16	86612373	86612373	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr16:86612373C>T	uc002fjr.3	+	0	259	c.44C>T	c.(43-45)tCg>tTg	p.S15L		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	Homo sapiens forkhead box L1 (FOXL1), mRNA.	15					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of Wnt receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.S15L(2)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTGGCCGCCTCGCCCATGCTG	0.726000													18	73					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739491	62739491	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:62739491C>T	uc001dah.4	-	2	1662	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	429								p.D429N(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ATGCCCTTATCACACGACTCC	0.547000													6	224					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4966872	4966872	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chrY:4966872C>T	uc004fqo.3	+	1	1987	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M	PCDH11Y_uc010nwg.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fql.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fqm.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fqn.1_Missense_Mutation_p.T418M|PCDH11Y_uc004fqp.1_Missense_Mutation_p.T189M	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	418	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T407M(1)|p.T418M(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATAACTGTGACGGATAAGGAT	0.413000													18	25					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173941766	173941767	+	Splice_Site	INS	-	TA	TA			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:173941766_173941767insTA	uc010pmt.2	-	7	1190	c.1103_splice	c.e7-1	p.D368_splice	RC3H1_uc001gju.4_Splice_Site_p.D368_splice|RC3H1_uc010pms.2_Splice_Site_p.D368_splice|RC3H1_uc001gjv.3_Splice_Site_p.D368_splice	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	368					cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGAGGAGCATCTATACAACCAA	0.361													11	69	---	---	---	---					
ERCC6	2074	broad.mit.edu	37	10	50736488	50736492	+	Frame_Shift_Del	DEL	ATCTA	-	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:50736488_50736492delATCTA	uc001jhs.4	-	3	777_781	c.623_627delTAGAT	c.(622-627)ctagatfs	p.L208fs	ERCC6_uc009xoe.3_Frame_Shift_Del_p.L208fs|ERCC6_uc001jhu.3_Frame_Shift_Del_p.L208fs	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	208					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GACTGGCGTGATCTAGTTCAATTTT	0.459								Direct reversal of damage;Nucleotide excision repair (NER)					16	56	---	---	---	---					
ZNF850	342892	broad.mit.edu	37	19	37239224	37239224	+	Frame_Shift_Del	DEL	A	-	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:37239224delA	uc010efc.3	-	4	2877	c.2718delT	c.(2716-2718)tttfs	p.F906fs	ZNF850_uc010xtm.2_Frame_Shift_Del_p.F872fs	NM_001193552	NP_001180481	A8MQ14	ZN850_HUMAN	Homo sapiens zinc finger protein 850 (ZNF850), mRNA.	906					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AACGACGTCTAAAGGCCTTGC	0.418													2	4	---	---	---	---					
KLK2	3817	broad.mit.edu	37	19	51379825	51379826	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:51379825_51379826delAA	uc002ptv.3	+	2	345_346	c.304_305delAA	c.(304-306)aatfs	p.N102fs	KLK2_uc010eog.3_5'UTR|KLK2_uc010yck.2_Frame_Shift_Del_p.N102fs|KLK2_uc002ptt.3_Non-coding_Transcript|KLK2_uc010ycl.2_Frame_Shift_Del_p.N85fs|KLK2_uc010ycm.2_5'UTR|KLK2_uc002ptu.3_Frame_Shift_Del_p.N102fs	NM_005551	NP_005542	P20151	KLK2_HUMAN	Homo sapiens kallikrein-related peptidase 2 (KLK2), transcript variant 1, mRNA.	102	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CCCGCTCTACAATATGAGCCTT	0.554			T	ETV4	prostate								15	34	---	---	---	---					
SFI1	9814	broad.mit.edu	37	22	32007282	32007282	+	Frame_Shift_Del	DEL	G	-	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr22:32007282delG	uc003ale.3	+	22	2801	c.2408delG	c.(2407-2409)aggfs	p.R803fs	SFI1_uc003alf.3_Frame_Shift_Del_p.R772fs|SFI1_uc003alg.3_Frame_Shift_Del_p.R721fs|SFI1_uc011alp.2_Frame_Shift_Del_p.R709fs|SFI1_uc011alq.2_Frame_Shift_Del_p.R748fs|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript|SFI1_uc003ali.3_5'Flank	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	803					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CAGTGTGTCAGGAAGAGGGTG	0.622													10	26	---	---	---	---					
