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
PCDHAC2	56134	broad.mit.edu	37	5	140215137	140215137	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140215137C>T	uc003lhq.2	+	0	1169	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.T390M	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	405	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T390M(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCCTGACGCCCCGCGTT	0.542000													6	293					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr20:62839353A>G	uc002yii.3	+	6	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													3	24					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155532986	155532986	+	Silent	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr4:155532986T>C	uc003ioj.3	-	3	513	c.372A>G	c.(370-372)gcA>gcG	p.A124A	FGG_uc003iog.3_Silent_p.A124A	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	124					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.A124A(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTAAAATCGATGCTTCATATT	0.299000													28	66					0	0	1	0	0
ZMYND12	84217	broad.mit.edu	37	1	42898890	42898890	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:42898890T>G	uc001chj.3	-	6	1169	c.899A>C	c.(898-900)gAc>gCc	p.D300A	ZMYND12_uc010ojt.2_Missense_Mutation_p.D190A	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	Homo sapiens zinc finger, MYND-type containing 12 (ZMYND12), transcript variant 1, mRNA.	300						intracellular	zinc ion binding	p.D300A(2)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGGGCTTTGTCAGATGTAGA	0.408000													33	452					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804629	22804629	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr18:22804629T>C	uc002kvk.2	-	3	3500	c.3253A>G	c.(3253-3255)Atc>Gtc	p.I1085V	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.I1085V|ZNF521_uc002kvl.2_Missense_Mutation_p.I865V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	1085					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.I1085V(3)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGGCCATTGATATCAAGTTTC	0.532000			T	PAX5	ALL								7	120					0	0	1	0	0
GSDMB	55876	broad.mit.edu	37	17	38062140	38062140	+	Silent	SNP	C	C	T	rs144949338		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr17:38062140C>T	uc010cwj.3	-	8	1118	c.987G>A	c.(985-987)gcG>gcA	p.A329A	GSDMB_uc010cwi.3_Silent_p.A76A|GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Silent_p.A307A|GSDMB_uc002hth.3_Silent_p.A316A|GSDMB_uc010wem.2_Silent_p.A320A	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	324						cytoplasm		p.A307A(1)|p.A329A(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CTTTTGCACGCGCTTCTACCA	0.567000													80	191					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50666944	50666944	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr10:50666944G>A	uc001jhs.4	-	20	4553	c.4399C>T	c.(4399-4401)Cga>Tga	p.R1467*	ERCC6_uc009xod.3_Nonsense_Mutation_p.R627*|ERCC6_uc010qgr.2_Nonsense_Mutation_p.R837*|ERCC6_uc001jhr.4_Nonsense_Mutation_p.R835*	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1467					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	p.R1467*(3)		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						AATAGTTCTCGGAAGACACAA	0.458000								Direct reversal of damage;Nucleotide excision repair (NER)					6	287					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61505663	61505663	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:61505663G>A	uc001nsa.3	+	15	1756	c.1640G>A	c.(1639-1641)cGa>cAa	p.R547Q		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	547					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.R547Q(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTCCTGCAGCGAAGCACCAAG	0.637000													4	45					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415644	19415644	+	RNA	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr13:19415644C>A	uc010tcj.1	-	0		c.30466G>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		aaaaaaaaaacccaaacaaaa	0.413000													3	65					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88983485	88983485	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr14:88983485C>T	uc001xwv.4	-	2	632	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	PTPN21_uc010twc.2_5'UTR|PTPN21_uc010atf.1_Missense_Mutation_p.V101M	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	101	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	p.V101M(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAAAACACCACTCCAAAATAG	0.413000													45	117					0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38039665	38039665	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr22:38039665C>A	uc003ati.3	+	6	1226	c.488C>A	c.(487-489)aCc>aAc	p.T163N	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_Missense_Mutation_p.T163N|SH3BP1_uc003ath.1_Missense_Mutation_p.T163N|SH3BP1_uc003atj.1_Missense_Mutation_p.T99N|SH3BP1_uc003atk.1_Missense_Mutation_p.T77N|AK097791_uc003atl.1_Non-coding_Transcript	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	163	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	p.T163N(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGTCAGGCAACCAAGAATTCA	0.587000											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	78					0	0	1	0	0
LOC441666	441666	broad.mit.edu	37	10	42832122	42832122	+	RNA	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr10:42832122C>T	uc010qey.2	-	2		c.1853G>A								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		CAGTAAAAGGCTTTGCCACAT	0.348000													5	14					0	0	1	0	0
KCNK6	9424	broad.mit.edu	37	19	38810914	38810914	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:38810914T>C	uc002oic.3	+	1	429	c.322_splice	c.e1+2	p.G108_splice		NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	Homo sapiens potassium channel, subfamily K, member 6 (KCNK6), mRNA.	108						voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CCACCGTGGGTACGTAAGCGC	0.647000													3	50					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220364491	220364491	+	Missense_Mutation	SNP	G	G	A	rs151225064		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:220364491G>A	uc010puk.1	-	13	1570	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.A469V|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A49V	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	469					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.A469V(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTCTTGGCGCATAGATCAC	0.493000													5	234					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237754089	237754089	+	Silent	SNP	T	T	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:237754089T>A	uc001hyl.1	+	30	4077	c.3957T>A	c.(3955-3957)gcT>gcA	p.A1319A		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1319	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGACGGTGGCTGGAGGGCTCC	0.512000													4	221					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28575417	28575417	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr8:28575417T>C	uc003xgz.1	+	2	2434	c.1841T>C	c.(1840-1842)tTc>tCc	p.F614S		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	614						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.F614S(2)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TTCCATCTTTTCCCCCACACT	0.577000													18	192					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979394	58979394	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:58979394G>T	uc001nnu.4	-	0	1101	c.945C>A	c.(943-945)aaC>aaA	p.N315K		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	315	MACPF.					integral to membrane		p.N315K(2)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GCATGTTGGGGTTGATGAAGA	0.552000													17	74					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48788323	48788323	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr15:48788323T>C	uc001zwx.2	-	19	2788	c.2393A>G	c.(2392-2394)tAc>tGc	p.Y798C		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	798	EGF-like 12; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.Y798C(2)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATCAGGTTTGTAGATAAATCC	0.353000													41	110					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290465	132290465	+	Missense_Mutation	SNP	G	G	T	rs149945224		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:132290465G>T	uc002tta.3	+	5	957	c.905G>T	c.(904-906)gGg>gTg	p.G302V	CCDC74A_uc002ttb.3_Missense_Mutation_p.G236V|CCDC74A_uc021vpq.1_Nonsense_Mutation_p.G238*|CCDC74A_uc021vpr.1_Missense_Mutation_p.G299V	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	302			G -> R (in dbSNP:rs13660).					p.G302V(2)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTCCTGGAAGGGAGCCAGAGG	0.692000													11	110					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263465	140263465	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140263465C>T	uc003lif.2	+	0	1612	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.R538C|PCDHAC2_uc003lid.3_Missense_Mutation_p.R538C	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	552	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R538C(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGACTCTGG	0.682000													5	167					0	0	1	0	0
PGM2L1	283209	broad.mit.edu	37	11	74053512	74053512	+	Silent	SNP	C	C	T	rs151007979		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:74053512C>T	uc001ovb.1	-	11	1922	c.1626G>A	c.(1624-1626)aaG>aaA	p.K542K		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA.	542					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	p.K542K(2)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTACTGATTTCTTATTAGGCT	0.353000													13	163					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49672120	49672120	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr16:49672120G>T	uc002efs.3	-	4	1241	c.943C>A	c.(943-945)Cac>Aac	p.H315N	ZNF423_uc010vgn.2_Missense_Mutation_p.H198N	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	315					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.H315N(4)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGGCTTGGTGGATATGGGCG	0.622000													4	112					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332853	100332853	+	RNA	SNP	T	T	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr15:100332853T>G	uc021sxl.1	-	1		c.300A>C			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.									p.T127T(1)									TCCCGGCCACTGCCCTGAAGC	0.607000													6	100					0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24976626	24976626	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr14:24976626T>C	uc001wpp.1	-	1	175	c.145A>G	c.(145-147)Aaa>Gaa	p.K49E	CMA1_uc010alx.1_Intron	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	49	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.K49E(2)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCACAAAATTTTGAGGGACCG	0.502000													94	274					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42569514	42569514	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:42569514C>T	uc002osj.1	-	1	140	c.105G>A	c.(103-105)gtG>gtA	p.V35V	GRIK5_uc010eib.1_5'UTR	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	35						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.V35V(3)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CGCGGCCACACACTGTCTGAT	0.607000													4	84					0	0	1	0	0
PRG3	10394	broad.mit.edu	37	11	57147239	57147239	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:57147239C>T	uc001njv.2	-	2	213	c.103G>A	c.(103-105)Gac>Aac	p.D35N		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	Homo sapiens proteoglycan 3 (PRG3), mRNA.	35					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	p.D35N(2)|p.A34A(1)		large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						TGGCCTAGGTCTGCCTGTGTC	0.557000													45	115					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71543125	71543125	+	Silent	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr14:71543125C>A	uc001xmo.2	+	27	5772	c.5326C>A	c.(5326-5328)Cga>Aga	p.R1776R	PCNX_uc010are.1_Silent_p.R1665R|PCNX_uc010arf.1_Silent_p.R564R	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1776						integral to membrane		p.R1776R(2)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTGCTCTTCCCGAAGAGCAAA	0.393000													3	94					0	0	1	0	0
MCL1	4170	broad.mit.edu	37	1	150551355	150551355	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:150551355C>T	uc001euz.3	-	0	860	c.652G>A	c.(652-654)Gat>Aat	p.D218N	MCL1_uc010pch.2_Missense_Mutation_p.D108N|MCL1_uc021oyf.1_Missense_Mutation_p.D65N|MCL1_uc001eva.3_Missense_Mutation_p.D218N	NM_021960	NP_068779	Q07820	MCL1_HUMAN	Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related) (MCL1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	218					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	p.D218N(2)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCACGCCATCCCCAACCCGT	0.622000													34	92					0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16091554	16091554	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:16091554G>C	uc001axd.1	+	3	519	c.76G>C	c.(76-78)Gtg>Ctg	p.V26L	FBLIM1_uc001axe.1_Missense_Mutation_p.V26L|FBLIM1_uc001axg.1_Missense_Mutation_p.V26L|FBLIM1_uc001axh.1_Missense_Mutation_p.V26L|FBLIM1_uc001axi.1_Missense_Mutation_p.V26L	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	26	Filamin-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.V26L(2)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CGATGTGGCCGTGGCGGAGGA	0.672000													36	103					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2076132	2076132	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr17:2076132C>T	uc002fub.1	-	12	3232	c.3177G>A	c.(3175-3177)tcG>tcA	p.S1059S	SMG6_uc010vqv.1_Silent_p.S151S|SMG6_uc002fud.2_Silent_p.S1028S	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	1059					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	p.S1059S(3)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAGCCAGCGTCGACCATACAT	0.453000													13	61					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140243660	140243660	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr9:140243660C>G	uc004cmp.2	-	15	1928	c.1732G>C	c.(1732-1734)Gac>Cac	p.D578H	EXD3_uc010ncf.1_Missense_Mutation_p.D258H|EXD3_uc004cmq.1_Non-coding_Transcript	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	578					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	p.D578H(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CCAGCCAGGTCCTCCGACAGG	0.701000													5	17					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070695	141070695	+	Silent	SNP	G	G	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr9:141070695G>A	uc010ncq.3	+	4	1470	c.630G>A	c.(628-630)acG>acA	p.T210T						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.R105H(1)									GCCAAGGGACGCTACACCGAA	0.592000													4	13					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3613171	3613171	+	Silent	SNP	G	G	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr16:3613171G>A	uc010btn.3	-	4	2178	c.1767C>T	c.(1765-1767)agC>agT	p.S589S		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	589					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding	p.S636S(1)|p.A588A(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAGGGCCCCGCTCTCCATGG	0.697000													4	13					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126337635	126337635	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr4:126337635C>G	uc003ifj.4	+	5	6876	c.6876C>G	c.(6874-6876)aaC>aaG	p.N2292K	FAT4_uc011cgp.2_Missense_Mutation_p.N590K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2292	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N2292K(3)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGGATCTAACAGCAAACTCT	0.413000													118	391					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27329050	27329050	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr10:27329050T>C	uc009xku.1	-	20	2391	c.2219A>G	c.(2218-2220)gAa>gGa	p.E740G	ANKRD26_uc001itg.2_Missense_Mutation_p.E426G|ANKRD26_uc001ith.2_Missense_Mutation_p.E739G	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	739						centrosome		p.E740G(2)|p.E740K(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTTTTAAGTTCTAATAATCT	0.294000													7	102					0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6216424	6216424	+	Silent	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:6216424C>T	uc002mek.3	-	7	1463	c.1299G>A	c.(1297-1299)agG>agA	p.R433R		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	433					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	p.R433R(2)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACCTGGAGTCCCTCCCCGGGT	0.711000			T	MLL	AL								3	15					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169483749	169483749	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:169483749G>A	uc003maf.3	+	42	4437	c.4357G>A	c.(4357-4359)Gta>Ata	p.V1453I	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.V945I|DOCK2_uc003mah.3_5'UTR	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1453	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.V1453I(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGGGGACCGTAGACCCAGA	0.557000													18	50					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23191091	23191091	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr8:23191091C>T	uc003xdh.1	-	4	1128	c.789G>A	c.(787-789)atG>atA	p.M263I	LOC100507156_uc003xdj.3_5'Flank	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	263	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	p.M263I(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGGTGCAGTCCATGGAGAATG	0.612000													24	61					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66548462	66548462	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr7:66548462C>A	uc003tvn.3	+	10	1469	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E	TYW1_uc010lai.3_Non-coding_Transcript|TYW1_uc011kef.2_Missense_Mutation_p.D54E	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	440					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.D440E(2)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GGAAGATGGACCAGCCTGAAA	0.443000													5	151					0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1053761	1053761	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr9:1053761C>T	uc003zha.3	+	2	765	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	DMRT2_uc003zhb.4_Missense_Mutation_p.R189C|DMRT2_uc003zgy.4_Missense_Mutation_p.R33C|DMRT2_uc011llt.2_Missense_Mutation_p.R189C|DMRT2_uc022bcw.1_Missense_Mutation_p.R189C|DMRT2_uc011llv.2_Missense_Mutation_p.R189C	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.	189					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.R189C(3)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TAATTTCGAGCGCAAAGCTGT	0.448000													14	158					0	0	1	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979764	12979764	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:12979764G>A	uc001aup.3	+	3	1039	c.956G>A	c.(955-957)cGt>cAt	p.R319H		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	319								p.R319H(2)				Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCGAGCATCCGTCAATTAAAG	0.587000													18	213					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87965133	87965137	+	Frame_Shift_Del	DEL	AGTAA	-	-			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr6:87965133_87965137delAGTAA	uc003plm.4	+	7	1827_1831	c.1786_1790delAGTAA	c.(1786-1791)agtaaafs	p.S596fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAACAATCTAGTAAAGAGAGACTA	0.361													10	76	---	---	---	---					
WNT10B	7480	broad.mit.edu	37	12	49363901	49363902	+	Frame_Shift_Ins	INS	-	GGGG	GGGG	rs143694346	by1000genomes	TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr12:49363901_49363902insGGGG	uc001rss.3	-	2	751_752	c.307_308insCCCC	c.(307-309)ctgfs	p.L103fs	WNT10B_uc001rst.3_Frame_Shift_Ins_p.L103fs	NM_003394	NP_003385	O00744	WN10B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA.	103					Wnt receptor signaling pathway, calcium modulating pathway|axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GTGGTGCGGCAGGCGGCCGCCG	0.752													4	4	---	---	---	---					
