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
CYP4F2	8529	broad.mit.edu	37	19	16003198	16003198	+	Missense_Mutation	SNP	C	C	T	rs140630977		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr19:16003198C>T	uc002nbs.1	-	4	496	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	CYP4F2_uc010xot.1_5'UTR|CYP4F2_uc010xou.1_5'UTR	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	149					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.R149Q(4)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGTCAGCATCCGACGGTGGCG	0.567000													27	131					0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24357720	24357720	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:24357720C>T	uc003ndx.3	-	0	561	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	DCDC2_uc003ndy.3_Missense_Mutation_p.V87M|KAAG1_uc003ndz.1_5'UTR	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	87	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration			p.V87M(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCTCCAGCCACGTAATTGCCC	0.587000													40	105					0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67412278	67412278	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:67412278G>A	uc001omq.3	-	6	868	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA.	233					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	p.R233C(2)		endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GCCTCGGTGCGGGGGAAGTCC	0.632000													4	7					0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79094618	79094618	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr17:79094618T>C	uc010dia.3	-	10	3198	c.3118A>G	c.(3118-3120)Agg>Ggg	p.R1040G	AATK_uc010dhz.3_Intron|AATK_uc021ueu.1_Missense_Mutation_p.R937G	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	1040						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R1040G(3)		endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ACCCCAGGCCTGAGACAGACC	0.716000													2	11					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31377922	31377922	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr7:31377922G>A	uc003tch.3	-	1	1314	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	NEUROD6_uc022abi.1_Missense_Mutation_p.R321C	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	321					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R321C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GATTGGCTGCGCAGATGTAAG	0.478000													10	145					0	0	1	0	0
ZNF24	7572	broad.mit.edu	37	18	32917272	32917272	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr18:32917272T>C	uc002kyt.2	-	3	1188	c.1031A>G	c.(1030-1032)tAt>tGt	p.Y344C	ZNF24_uc002kys.2_Missense_Mutation_p.Y344C	NM_006965	NP_008896	P17028	ZNF24_HUMAN	Homo sapiens zinc finger protein 24 (ZNF24), mRNA.	344					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y344C(2)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GCTTTGACTATACGATTTCCC	0.358000													21	169					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111795794	111795794	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:111795794C>T	uc010hqb.2	+	13	1819	c.1649C>T	c.(1648-1650)cCg>cTg	p.P550L	TMPRSS7_uc011bhr.1_Missense_Mutation_p.P405L	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	676	LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	p.P405L(1)|p.P550L(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTGTCTCCCCGGTGAGAAGA	0.453000													121	215					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3661952	3661952	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr19:3661952G>T	uc002lyj.2	-	3	356	c.267C>A	c.(265-267)taC>taA	p.Y89*	PIP5K1C_uc010xhq.2_Nonsense_Mutation_p.Y89*|PIP5K1C_uc010xhr.2_Nonsense_Mutation_p.Y89*	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	89	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	p.Y89*(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCCACGGTGTAGCCGATGC	0.682000													5	15					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942667	144942667	+	Missense_Mutation	SNP	C	C	A	rs111431754		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr8:144942667C>A	uc003zaa.1	-	0	4768	c.4755G>T	c.(4753-4755)atG>atT	p.M1585I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1585						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.M1585I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGGATGCTCATCCTCTCCT	0.647000													33	26					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106691922	106691922	+	RNA	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr14:106691922C>T	uc021ser.1	-	1156		c.25071G>A								Parts of antibodies, mostly variable regions.																		TCAGGGACCCCCCAGGCTTGA	0.587000													9	185					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145530284	145530284	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:145530284G>T	uc001eoa.3	+	5	575	c.499G>T	c.(499-501)Gat>Tat	p.D167Y	ITGA10_uc010oyv.2_Missense_Mutation_p.D36Y|ITGA10_uc009wiw.3_Missense_Mutation_p.D24Y|ITGA10_uc010oyw.2_Missense_Mutation_p.D112Y	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	167	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.D167Y(3)|p.M166I(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACATACATGGATGTTGTCAT	0.498000													7	205					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101374961	101374961	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:101374961G>A	uc001pgk.4	-	1	1164	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	TRPC6_uc009ywy.3_Missense_Mutation_p.R247W|TRPC6_uc009ywz.1_Missense_Mutation_p.R247W	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	247					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.R247W(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCATGAGGCCGTTCAATCCTA	0.478000													79	180					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52595982	52595982	+	Silent	SNP	G	G	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr10:52595982G>T	uc001jjj.3	-	5	644	c.456C>A	c.(454-456)atC>atA	p.I152I	A1CF_uc010qho.2_Silent_p.I160I|A1CF_uc010qhn.2_Silent_p.I160I|A1CF_uc009xov.3_Silent_p.I152I|A1CF_uc001jji.3_Silent_p.I152I|A1CF_uc001jjh.3_Silent_p.I160I	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	152	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.I152I(2)|p.I160I(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TCTCCGATAAGATTTCTTCTC	0.463000													19	196					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	877	877	+	RNA	SNP	T	T	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chrGL000237.1:877T>A	uc011mgu.1	-	1		c.341A>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		tcaccgtggctgccacaaccg	0.582000													3	26					0	0	1	0	0
P2RY1	5028	broad.mit.edu	37	3	152554551	152554551	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:152554551C>T	uc003ezq.3	+	0	1816	c.980C>T	c.(979-981)gCg>gTg	p.A327V		NM_002563	NP_002554	P47900	P2RY1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 1 (P2RY1), mRNA.	327					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A327V(2)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TATTTCTTGGCGGGAGATACT	0.463000													5	129					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83212	83212	+	Splice_Site	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chrGL000219.1:83212C>T	uc022brb.1	-	4	454	c.141_splice	c.e4+1	p.K47_splice	LOC283788_uc011mfq.2_Splice_Site					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GTCATCGTTACCTTGATCATT	0.348000													3	31					0	0	1	0	0
C7orf23	79161	broad.mit.edu	37	7	86848787	86848787	+	Silent	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr7:86848787G>A	uc003uio.3	-	0	245	c.33C>T	c.(31-33)acC>acT	p.T11T		NM_024315	NP_077291	Q9BU79	CG023_HUMAN	Homo sapiens chromosome 7 open reading frame 23 (C7orf23), mRNA.	11						integral to membrane		p.T11T(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(14;0.0058)|all_lung(186;0.191)|Lung NSC(181;0.192)					CCAGGCCACTGGTGCCGTAGG	0.572000										HNSCC(41;0.11)			16	68					0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86215	86215	+	RNA	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chrGL000211.1:86215C>T	uc003bnz.1	+	5		c.963C>T			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAGTTGACCCGCTGTTTGTT	0.423000													4	9					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128521	147128521	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:147128521C>A	uc003ewe.3	+	0	1341	c.622C>A	c.(622-624)Cac>Aac	p.H208N		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	208					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H208N(2)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCCGCGCATCACGGCGCCGG	0.642000													15	64					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329453	88329453	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr13:88329453C>T	uc001vln.3	+	1	2029	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	SLITRK5_uc010tic.1_Missense_Mutation_p.R363C|SLITRK5_uc021rlc.1_Missense_Mutation_p.R604C	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	604	LRRCT 2.					integral to membrane		p.R604C(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACCGACATGCGCTCCATTAA	0.567000													21	208					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179426189	179426189	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr2:179426189T>G	uc021vsy.1	-	274	77191	c.76966A>C	c.(76966-76968)Atg>Ctg	p.M25656L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M19351L|TTN_uc021vta.1_Missense_Mutation_p.M19284L|TTN_uc021vtb.1_Missense_Mutation_p.M19159L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26583	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.M19159L(2)|p.M19351L(1)|p.M25656L(1)|p.M19284L(1)|p.M25654L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTCATACATCAGTCCTTCA	0.398000													74	149					0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66208993	66208993	+	Silent	SNP	G	G	C			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr14:66208993G>C	uc001xin.3	+	10	3320	c.1593G>C	c.(1591-1593)gtG>gtC	p.V531V	FUT8_uc001xio.3_Silent_p.V531V|FUT8_uc010tsp.2_Silent_p.V368V|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Silent_p.V531V|FUT8_uc001xiq.3_Silent_p.V402V|FUT8_uc021ruy.1_Silent_p.V402V	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	531	SH3.				L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity	p.V531V(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TCATTGGTGTGGCTGGAAATC	0.463000													20	181					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22035727	22035727	+	Silent	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr12:22035727G>A	uc001rfh.3	-	13	2012	c.1992C>T	c.(1990-1992)ccC>ccT	p.P664P	ABCC9_uc001rfi.1_Silent_p.P664P	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	664					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.P664P(5)|p.A665fs*57(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGTTTCTGCGGGACGTAGAC	0.383000													56	232					0	0	1	0	0
SOD3	6649	broad.mit.edu	37	4	24801303	24801303	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr4:24801303G>A	uc003gqz.3	+	1	365	c.160G>A	c.(160-162)Gac>Aac	p.D54N	SOD3_uc021xmy.1_Missense_Mutation_p.D54N	NM_003102	NP_003093	P08294	SODE_HUMAN	Homo sapiens superoxide dismutase 3, extracellular (SOD3), mRNA.	54					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding	p.D54N(2)		prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				GCAGCGGCGGGACGACGACGG	0.716000													14	8					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834316	101834316	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr5:101834316G>A	uc003knn.3	-	0	405	c.233C>T	c.(232-234)cCg>cTg	p.P78L	SLCO6A1_uc003kno.3_Missense_Mutation_p.P78L|SLCO6A1_uc003knp.3_Missense_Mutation_p.P78L|SLCO6A1_uc003knq.3_Missense_Mutation_p.P78L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	78				KPG -> NRE (in Ref. 1; AAP33048).		integral to membrane|plasma membrane	transporter activity	p.P78L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CACTTCTCCCGGCTTCTTGGA	0.488000													55	242					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86888856	86888856	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chrX:86888856G>A	uc004efa.2	+	7	1839	c.1657G>A	c.(1657-1659)Gta>Ata	p.V553I	KLHL4_uc004efb.2_Missense_Mutation_p.V553I	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	553						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.V553I(3)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GTGGAATTACGTAGCCAGTAT	0.433000													5	41					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67223061	67223061	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:67223061G>A	uc001olo.3	+	0	244	c.167G>A	c.(166-168)gGc>gAc	p.G56D	GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	56					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	p.G56D(2)		central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AAGCGCACTGGCAGCTCTGGG	0.687000													13	9					0	0	1	0	0
SGSH	6448	broad.mit.edu	37	17	78187975	78187975	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr17:78187975A>G	uc002jxz.4	-	4	746	c.659T>C	c.(658-660)gTg>gCg	p.V220A	SGSH_uc002jya.4_Missense_Mutation_p.V17A|SGSH_uc002jxy.2_Missense_Mutation_p.V220A|SGSH_uc010wue.1_Missense_Mutation_p.C232R	NM_000199	NP_000190	P51688	SPHM_HUMAN	Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.	220					proteoglycan metabolic process	lysosome	N-sulfoglucosamine sulfohydrolase activity|metal ion binding|sulfuric ester hydrolase activity	p.V220A(2)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCCTACCAGCACGTCCAGTGG	0.637000													11	21					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25472740	25472740	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:25472740G>T	uc011djw.2	+	10	1233	c.865G>T	c.(865-867)Gag>Tag	p.E289*	LRRC16A_uc010jpy.3_Nonsense_Mutation_p.E289*|LRRC16A_uc003nez.1_Nonsense_Mutation_p.E128*	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	289					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		p.E289*(2)		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						CAACCCACTGGAGGATAGAGG	0.423000													2	1					0	0	1	0	0
FBXL4	26235	broad.mit.edu	37	6	99323344	99323344	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:99323344T>G	uc003ppf.1	-	7	2007	c.1649A>C	c.(1648-1650)gAc>gCc	p.D550A	FBXL4_uc003ppg.1_Missense_Mutation_p.D550A|FBXL4_uc003pph.1_Missense_Mutation_p.D152A|FBXL4_uc010kcp.3_Missense_Mutation_p.D128A	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 4 (FBXL4), mRNA.	550					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		p.D550A(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTCATCAATGTCTGTGTCACA	0.413000													46	121					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33377450	33377450	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:33377450C>T	uc003oef.4	+	10	2455	c.2005C>T	c.(2005-2007)Cag>Tag	p.Q669*	KIFC1_uc011drf.2_Nonsense_Mutation_p.Q661*|PHF1_uc003oeh.3_5'Flank|PHF1_uc011drh.2_5'Flank|PHF1_uc003oei.3_5'Flank|PHF1_uc010jux.3_5'Flank	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	669					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	p.Q669*(4)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGGTACTGCTCAGGCCAACAG	0.483000													39	259					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77818329	77818329	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr4:77818329G>A	uc003hki.3	-	0	674	c.674C>T	c.(673-675)cCg>cTg	p.P225L		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	225	Ala-rich.							p.P225L(1)									AGCCCGTGCCGGCTTCTCCTC	0.706000													4	9					0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28058051	28058051	+	Silent	SNP	A	A	G			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:28058051A>G	uc001msc.2	-	13	2291	c.2109T>C	c.(2107-2109)atT>atC	p.I703I		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	703					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	p.I703I(2)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GTGTATATACAATAGGCTGAA	0.383000													48	191					0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15512380	15512380	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr19:15512380C>T	uc002naw.1	-	4	496	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Missense_Mutation_p.V72I|AKAP8L_uc002nay.1_Missense_Mutation_p.V133I|AKAP8L_uc002naz.3_5'UTR	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	133						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	p.V133I(3)		central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCACTCAGGACGGCCCTCGAG	0.592000													5	23					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52366398	52366398	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:52366398G>A	uc011bef.2	+	7	1535	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H	DNAH1_uc003ddt.1_Missense_Mutation_p.R425H	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	425	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R425H(3)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTCGGATGCGCAAAGGCCCC	0.582000													5	98					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73061256	73061256	+	RNA	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chrX:73061256C>T	uc004ebm.1	-	0		c.11333G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TACAGCTGTCCGAGGAGCTAG	0.393000													26	21					0	0	1	0	0
DOK2	9046	broad.mit.edu	37	8	21768190	21768190	+	Silent	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr8:21768190C>T	uc003wzx.1	-	3	705	c.612G>A	c.(610-612)cgG>cgA	p.R204R	DOK2_uc003wzy.1_Silent_p.R204R|DOK2_uc003wzz.1_Silent_p.R50R|DOK2_uc010lth.1_Silent_p.R50R	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	204	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	p.R204R(2)|p.R204Q(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCACCTTGTCCCGCCCAAAGC	0.632000													15	23					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47361170	47361170	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:47361170C>T	uc003crd.3	+	1	283	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	KLHL18_uc003crc.2_Missense_Mutation_p.R53W|KLHL18_uc011bav.2_Intron	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	53								p.R53W(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CAGTGCCCACCGGATTGTCTT	0.418000													60	170					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33573723	33573723	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr7:33573723T>C	uc003tdn.1	+	20	2969	c.2456T>C	c.(2455-2457)tTa>tCa	p.L819S	BBS9_uc003tdo.1_Missense_Mutation_p.L784S|BBS9_uc003tdp.1_Missense_Mutation_p.L814S|BBS9_uc003tdq.1_Missense_Mutation_p.L779S|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Missense_Mutation_p.L343S|BBS9_uc003tds.1_Missense_Mutation_p.L242S	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	819					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.L819S(3)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGCGATAGATTATCCAAAGGT	0.493000									Bardet-Biedl syndrome				45	86					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	115005788	115005788	+	Silent	SNP	G	G	A			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:115005788G>A	uc001eew.3	-	3	945	c.861C>T	c.(859-861)ttC>ttT	p.F287F	TRIM33_uc010ows.2_5'UTR|TRIM33_uc001eex.3_Silent_p.F287F	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	287					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding	p.F287F(3)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTTTCACAGAAAAGTTTCA	0.353000			T	RET	papillary thyroid								5	74					0	0	1	0	0
ETV3	2117	broad.mit.edu	37	1	157104016	157104017	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:157104016_157104017insT	uc001fqr.2	-	3	576_577	c.287_288insA	c.(286-288)tacfs	p.Y96fs	ETV3_uc001fqt.3_Frame_Shift_Ins_p.Y96fs	NM_001145312	NP_001138784	P41162	ETV3_HUMAN	Homo sapiens ets variant 3 (ETV3), transcript variant 1, mRNA.	96							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TGTTGTAATAGTATCTGTAAAA	0.371													46	39	---	---	---	---					
DHFR	1719	broad.mit.edu	37	5	79945228	79945232	+	Frame_Shift_Del	DEL	TAAAT	-	-			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr5:79945228_79945232delTAAAT	uc003kgy.1	-	2	710_714	c.218_222delATTTA	c.(217-222)aatttafs	p.N73fs	DHFR_uc011ctl.2_Frame_Shift_Del_p.N231fs|DHFR_uc011ctm.2_Non-coding_Transcript|DHFR_uc010jap.2_Non-coding_Transcript	NM_000791	NP_000782	P00374	DYR_HUMAN	Homo sapiens dihydrofolate reductase (DHFR), mRNA.	73	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	NADP binding|dihydrofolate reductase activity|drug binding|folate reductase activity			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGCTGAGAACTAAATTAATTCTACC	0.332													23	74	---	---	---	---					
NOL8	55035	broad.mit.edu	37	9	95069196	95069199	+	Frame_Shift_Del	DEL	TGTT	-	-			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr9:95069196_95069199delTGTT	uc022bjx.1	-	10	3131_3134	c.2794_2797delAACA	c.(2794-2799)aacagafs	p.N932fs	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Frame_Shift_Del_p.N864fs	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	932					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding	p.N931T(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ACTGATCCTCTGTTTGTAGAATTG	0.338													7	281	---	---	---	---					
NLRP1	22861	broad.mit.edu	37	17	5462267	5462268	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr17:5462267_5462268insT	uc002gci.3	-	3	2303_2304	c.1748_1749insA	c.(1747-1749)aagfs	p.K583fs	NLRP1_uc002gcg.1_Frame_Shift_Ins_p.K583fs|NLRP1_uc002gch.4_Frame_Shift_Ins_p.K583fs|NLRP1_uc002gck.3_Frame_Shift_Ins_p.K583fs|NLRP1_uc002gcj.3_Frame_Shift_Ins_p.K583fs|NLRP1_uc002gcl.3_Frame_Shift_Ins_p.K583fs|NLRP1_uc010clh.3_Frame_Shift_Ins_p.K583fs	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	583	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.K582T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGAAAAGGGTCTTTTTTTGCCA	0.535													7	101	---	---	---	---					
