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
REG1P	5969	broad.mit.edu	37	2	79365098	79365098	+	RNA	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:79365098C>T	uc002soa.1	-	1		c.136G>A			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		CTCACCTTGGCTCAGAGACAG	0.493000													4	32					0	0	1	0	0
FAM222A	84915	broad.mit.edu	37	12	110206636	110206636	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:110206636G>A	uc001tpd.2	+	2	1464	c.902G>A	c.(901-903)cGt>cAt	p.R301H	FAM222A-AS1_uc010sxs.2_Intron|FAM222A-AS1_uc001tpe.3_Intron	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	Homo sapiens chromosome 12 open reading frame 34 (C12orf34), mRNA.	301																	CAGCCACTGCGTGCCTACAGT	0.711000													6	7					0	0	1	0	0
ASB9	140462	broad.mit.edu	37	X	15272961	15272961	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:15272961C>A	uc004cwl.3	-	2	477	c.180G>T	c.(178-180)tgG>tgT	p.W60C	ASB9_uc004cwm.3_Missense_Mutation_p.W60C|ASB9_uc004cwk.3_Missense_Mutation_p.W60C|ASB9_uc010ner.3_Missense_Mutation_p.W60C|ASB9_uc004cwn.2_Missense_Mutation_p.W60C	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 9 (ASB9), transcript variant 1, mRNA.	60					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TGTTCACAGCCCACCCCTGAA	0.502000													5	123					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79653378	79653378	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:79653378C>T	uc002kbg.3	+	2	294	c.159C>T	c.(157-159)gtC>gtT	p.V53V	ARL16_uc002kbf.3_5'Flank|ARL16_uc021ufd.1_5'Flank|HGS_uc010wus.2_Silent_p.V53V	NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	53	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AGAAGAAAGTCAACGACAAGA	0.478000													63	12					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:26880266G>A	uc001ist.3	+	1		c.501G>A								Homo sapiens long intergenic non-protein coding RNA 264 (LINC00264), non-coding RNA.																		ACCAAGCCCAGTGGACAGATG	0.443000													5	76					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110234489	110234489	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:110234489C>T	uc001tpj.2	-	5	1268	c.1173G>A	c.(1171-1173)cgG>cgA	p.R391R	TRPV4_uc001tpg.2_Silent_p.R357R|TRPV4_uc021rdp.1_Intron|TRPV4_uc001tph.2_Silent_p.R344R|TRPV4_uc001tpi.2_Intron|TRPV4_uc001tpk.2_Silent_p.R391R	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	391					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCACCTCCCGCCGGATGATGT	0.622000													28	43					0	0	1	0	0
AK308561	0	broad.mit.edu	37	9	68410224	68410224	+	RNA	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:68410224C>A	uc004aew.1	+	0		c.227C>A								Homo sapiens cDNA, FLJ98602.																		gtgagagggtcgtgatggatt	0.498000													4	3					0	0	1	0	0
ASB9	140462	broad.mit.edu	37	X	15272962	15272962	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:15272962C>A	uc004cwl.3	-	2	476	c.179G>T	c.(178-180)tGg>tTg	p.W60L	ASB9_uc004cwm.3_Missense_Mutation_p.W60L|ASB9_uc004cwk.3_Missense_Mutation_p.W60L|ASB9_uc010ner.3_Missense_Mutation_p.W60L|ASB9_uc004cwn.2_Missense_Mutation_p.W60L	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 9 (ASB9), transcript variant 1, mRNA.	60					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GTTCACAGCCCACCCCTGAAG	0.502000													5	122					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176016580	176016580	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:176016580A>G	uc021yie.1	+	23	3443	c.3169A>G	c.(3169-3171)Aag>Gag	p.K1057E	CDHR2_uc003mem.2_Missense_Mutation_p.K1057E|CDHR2_uc003men.1_Missense_Mutation_p.K1057E	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1057	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.P1056L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTCCACACCGAAGGAGGAGGT	0.647000													16	46					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78923451	78923451	+	Missense_Mutation	SNP	C	C	T	rs149832833	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:78923451C>T	uc002bed.1	-	3	438	c.326G>A	c.(325-327)cGc>cAc	p.R109H	CHRNB4_uc002bee.1_Missense_Mutation_p.R109H|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	109					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CAACCAGATGCGCTTTGCAGG	0.592000													4	104					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45391874	45391874	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:45391874G>A	uc001zun.3	-	24	3604	c.3401C>T	c.(3400-3402)gCt>gTt	p.A1134V	DUOX2_uc010bea.3_Missense_Mutation_p.A1134V	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1134	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGGACAACAGCAGCCATGGC	0.557000													38	63					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140773541	140773541	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:140773541C>T	uc004cog.3	+	1	465	c.320C>T	c.(319-321)gCc>gTc	p.A107V	AK128414_uc004cof.1_Intron|CACNA1B_uc022bqn.1_Missense_Mutation_p.A107V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	107					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACCATCATCGCCAACTGCATC	0.647000													8	39					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49845343	49845343	+	Silent	SNP	G	G	A	rs140312372	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:49845343G>A	uc004dos.1	+	4	734	c.486G>A	c.(484-486)gcG>gcA	p.A162A	CLCN5_uc004dor.1_Silent_p.A232A|CLCN5_uc004doq.1_Silent_p.A232A|CLCN5_uc004dot.1_Silent_p.A162A	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	162					excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AGGTGTTTGCGCCTTATGCCT	0.408000													20	43					0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12952782	12952782	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:12952782G>A	uc001auo.3	-	3	1463	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	464										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCAGATGGCCATGAGCCA	0.517000													30	7					0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123838998	123838998	+	Missense_Mutation	SNP	G	G	T	rs138121113		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:123838998G>T	uc010nqy.3	-	4	944	c.880C>A	c.(880-882)Cct>Act	p.P294T	ODZ1_uc011muj.2_Missense_Mutation_p.P294T|ODZ1_uc004euj.3_Missense_Mutation_p.P294T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	294	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.P293L(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CGAGGAAGAGGCCTGGGAGGG	0.522000													10	193					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44268464	44268464	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:44268464C>T	uc003tkq.2	-	18	1609	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	CAMK2B_uc003tkp.2_Intron|CAMK2B_uc003tkr.2_Intron|CAMK2B_uc003tks.2_Intron|CAMK2B_uc003tku.2_Intron|CAMK2B_uc003tkv.2_Intron|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Intron|CAMK2B_uc003tkn.2_Missense_Mutation_p.E100K	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	467					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AGGGGGCCCTCGGCTTCTGGG	0.652000													16	27					0	0	1	0	0
C6orf70	55780	broad.mit.edu	37	6	170176736	170176736	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:170176736G>A	uc003qxg.1	+	15	1739	c.1706G>A	c.(1705-1707)cGc>cAc	p.R569H	C6orf70_uc011ehb.1_Missense_Mutation_p.R443H|C6orf70_uc003qxh.1_Intron|C6orf70_uc010kky.1_Intron|C6orf70_uc003qxi.1_Missense_Mutation_p.R217H	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	569						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CTGCGGTCTCGCCAGCGGCAG	0.597000													19	29					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr21:14414902G>A	uc002yiy.3	+	1		c.339G>A			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		CCAGCTTGACGTCCTTGATGG	0.443000													6	15					0	0	1	0	0
ASB13	79754	broad.mit.edu	37	10	5693326	5693326	+	Splice_Site	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:5693326C>T	uc001iig.2	-	3	276	c.232_splice	c.e3-1	p.V78_splice	ASB13_uc001iih.2_Splice_Site|ASB13_uc001iii.2_Intron|ASB13_uc009xic.2_Splice_Site_p.V78_splice	NM_024701	NP_078977	Q8WXK3	ASB13_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 13 (ASB13), transcript variant 1, mRNA.	78					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		CGAGCATCCACCTCACGGGAG	0.567000													14	18					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188315	140188315	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:140188315G>A	uc003lhi.2	+	0	1644	c.1543G>A	c.(1543-1545)Ggc>Agc	p.G515S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.G515S|PCDHAC2_uc011daa.2_Missense_Mutation_p.G515S	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	529	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			TGCGGAGAGCGGCAAGGTGTA	0.677000													128	97					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50955098	50955098	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:50955098G>A	uc009xog.3	-	7	1259	c.1225C>T	c.(1225-1227)Cgt>Tgt	p.R409C	OGDHL_uc001jie.3_Missense_Mutation_p.R382C|OGDHL_uc010qgt.2_Missense_Mutation_p.R325C|OGDHL_uc010qgu.2_Missense_Mutation_p.R173C|OGDHL_uc009xoh.2_Missense_Mutation_p.R173C	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	382					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCATCTCCACGGTAGAACTGC	0.642000													44	76					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:24993374C>A	uc001bjm.3	+	12	1921	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	SRRM1_uc010oel.2_Missense_Mutation_p.P578H|SRRM1_uc009vrh.1_Missense_Mutation_p.P539H|SRRM1_uc009vri.1_Missense_Mutation_p.P495H|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding	p.P566H(4)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542000													6	37					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55362885	55362885	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr16:55362885C>T	uc002ehy.3	+	4	1528	c.995C>T	c.(994-996)gCg>gTg	p.A332V	IRX6_uc002ehx.3_Missense_Mutation_p.A332V	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	332						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S331L(1)|p.S331S(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TTCCTCTCGGCGGAGACAGGC	0.632000													5	75					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885521	60885521	+	Silent	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr20:60885521C>A	uc002ycq.3	-	75	10621	c.10554G>T	c.(10552-10554)ctG>ctT	p.L3518L	LAMA5_uc021wfw.1_Silent_p.L3518L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3518					angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCCGCCTCCAGGGGGCCCA	0.682000													22	73					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599134	31599134	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:31599134G>A	uc003nvb.4	+	15	2933	c.2684G>A	c.(2683-2685)gGg>gAg	p.G895E	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.G895E	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	895	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.G895R(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAGCTGACGGGGCCAGAAGCA	0.667000													21	28					0	0	1	0	0
MPV17	4358	broad.mit.edu	37	2	27535950	27535950	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:27535950T>C	uc002rjr.3	-	1	144	c.97A>G	c.(97-99)Atc>Gtc	p.I33V	MPV17_uc002rjs.3_Missense_Mutation_p.I33V|MPV17_uc002rjt.3_Intron	NM_002437	NP_002428	P39210	MPV17_HUMAN	Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), nuclear gene encoding mitochondrial protein, mRNA.	33					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGTGAGATAATGTCACCC	0.592000													37	55					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928766	32928766	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:32928766A>G	uc001zgy.1	+	11	2514	c.1792A>G	c.(1792-1794)Aaa>Gaa	p.K598E	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.K409E|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.K409E	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	598					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GACTTTGGTGAAAGTTCAAAA	0.373000													17	25					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37325831	37325831	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr22:37325831T>C	uc003aqa.4	+	5	917	c.700T>C	c.(700-702)Tgc>Cgc	p.C234R	CSF2RB_uc003aqc.4_Missense_Mutation_p.C234R	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	234					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCAGAGGTTTGCTGGGACTC	0.657000													18	19					0	0	1	0	0
STX3	6809	broad.mit.edu	37	11	59559673	59559673	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr11:59559673C>T	uc001nog.3	+	5	998	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	STX3_uc010rkx.2_Missense_Mutation_p.R151W|STX3_uc010rky.2_Missense_Mutation_p.R54W|STX3_uc009ymt.1_Missense_Mutation_p.R54W	NM_004177	NP_004168	Q13277	STX3_HUMAN	Homo sapiens syntaxin 3 (STX3), transcript variant 1, mRNA.	151					cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	SNARE complex|apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|specific granule	SNAP receptor activity|arachidonic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GCGAATCCAGCGGCAGCTCGA	0.527000													17	37					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27449457	27449457	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:27449457G>T	uc002rji.3	+	13	2258	c.2096G>T	c.(2095-2097)gGt>gTt	p.G699V	CAD_uc010eyw.3_Missense_Mutation_p.G636V	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	699	ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AAGGCCACAGGTTATCCACTG	0.522000													34	43					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17029267	17029267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:17029267G>A	uc001azn.1	-	5	1099	c.985C>T	c.(985-987)Cag>Tag	p.Q329*						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		TCAGCTGCCTGTGGTCCCACA	0.652000													23	165					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61774882	61774882	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr8:61774882G>A	uc003xue.3	+	35	8450	c.7958G>A	c.(7957-7959)cGa>cAa	p.R2653Q	CHD7_uc022aux.1_Missense_Mutation_p.R604Q	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2653					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTCAATAAACGAAATGGGAAG	0.398000													4	14					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419831	19419831	+	RNA	SNP	C	C	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr13:19419831C>G	uc010tcj.1	-	0		c.26279G>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TGCTTTGTTACTAAAGCAAAA	0.274000													3	42					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52521021	52521021	+	Silent	SNP	G	G	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr14:52521021G>T	uc001wzo.3	-	3	1020	c.786C>A	c.(784-786)atC>atA	p.I262I	NID2_uc010tqs.2_Silent_p.I262I|NID2_uc010tqt.1_Silent_p.I262I|NID2_uc001wzp.3_Silent_p.I262I	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	262	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACACTCCAGGGATCCCCAGGT	0.483000													24	5					0	0	1	0	0
HOXA13	3209	broad.mit.edu	37	7	27237844	27237844	+	Silent	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:27237844G>A	uc003szb.1	-	1	1169	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V	HOTTIP_uc022aau.1_5'Flank	NM_000522	NP_000513	P31271	HXA13_HUMAN	Homo sapiens homeobox A13 (HOXA13), mRNA.	380					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GTTTGTTGATGACTTTTTTCT	0.423000			T	NUP98	AML								72	106					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179411904	179411904	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:179411904G>A	uc021vsy.1	-	288	86869	c.86644C>T	c.(86644-86646)Cgt>Tgt	p.R28882C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22577C|TTN_uc021vta.1_Missense_Mutation_p.R22510C|TTN_uc021vtb.1_Missense_Mutation_p.R22385C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29809	Ig-like 133.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R22510C(1)|p.R28880C(1)|p.R28882C(1)|p.R22577C(1)|p.R22385C(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)			ATTGTATTACGTTCTTTCTTC	0.423000													95	135					0	0	1	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138103	138103	+	RNA	SNP	T	T	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrGL000195.1:138103T>C	uc003won.1	+	0		c.137T>C								Homo sapiens cDNA clone IMAGE:3683736.																		TGGGGACGCATAGTTAAGGTG	0.597000													4	10					0	0	1	0	0
FAM123B	139285	broad.mit.edu	37	X	63411431	63411431	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:63411431T>A	uc022byb.1	-	0	1736	c.1736A>T	c.(1735-1737)gAg>gTg	p.E579V	FAM123B_uc004dvo.3_Missense_Mutation_p.E579V	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	579					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)|p.E579D(1)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						CTCCTGGGCCTCAAGCTGCTC	0.612000													4	83					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35035360	35035360	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:35035360G>A	uc003jjf.3	-	4	791	c.548C>T	c.(547-549)gCg>gTg	p.A183V	AGXT2_uc011com.2_Missense_Mutation_p.A183V|AGXT2_uc011con.2_Missense_Mutation_p.A91V	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	183					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.R182T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GTTTGAGTGCGCCCTGGCCAT	0.433000													19	80					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6101114	6101114	+	Silent	SNP	G	G	A	rs149847513	by1000genomes	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:6101114G>A	uc001qnn.1	-	37	6919	c.6669C>T	c.(6667-6669)aaC>aaT	p.N2223N	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2223	E2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGAGCTCACGTTGCCATCAC	0.552000													24	28					0	0	1	0	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr21:44524456G>A	uc002zdb.1	-	1	185	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zda.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F	NM_006758	NP_001020375	Q01081	U2AF1_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 1 (U2AF1), transcript variant a, mRNA.	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	RNA binding|nucleotide binding|zinc ion binding	p.S34F(103)|p.S34Y(27)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								11	30					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134260173	134260173	+	Splice_Site	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:134260173C>A	uc011kpr.2	+	7	813	c.514_splice	c.e7-1	p.A172_splice		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	172							oxidoreductase activity	p.A190V(1)|p.A144V(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTATGATAGGCCATGGAGGAG	0.517000													6	48					0	0	1	0	0
CR627148	0	broad.mit.edu	37	9	66468755	66468755	+	RNA	SNP	T	T	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:66468755T>C	uc004aec.3	+	4		c.2322T>C								Homo sapiens, clone IMAGE:5213378, mRNA.																		gtgatgcctatctgacctctc	0.493000													4	3					0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101804913	101804913	+	RNA	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:101804913A>G	uc004ejf.1	+	0		c.21A>G								Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA.											endometrium(2)|lung(8)	10						GGACTCCCTCAGTGTGTTGTC	0.542000													27	54					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	88318	88318	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrGL000219.1:88318G>A	uc022brb.1	-	2	326	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		AGCTCCCAGGGTAAAAAGACC	0.413000													4	70					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579389	7579389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:7579389G>A	uc002gim.2	-	3	492	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	TP53_uc002gig.1_Nonsense_Mutation_p.Q100*|TP53_uc002gih.3_Nonsense_Mutation_p.Q100*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Nonsense_Mutation_p.Q100*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q100*|TP53_uc002gij.2_Nonsense_Mutation_p.Q100*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Nonsense_Mutation_p.Q61*|TP53_uc010cnk.1_Nonsense_Mutation_p.Q115*	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	100	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q -> R (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q100*(24)|p.0?(8)|p.Q100fs*37(4)|p.S99fs*48(3)|p.G59fs*23(3)|p.S99F(2)|p.V73fs*9(1)|p.S99fs*23(1)|p.S99P(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S99fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TAGGTTTTCTGGGAAGGGACA	0.652000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			71	24					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47050735	47050735	+	Silent	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr3:47050735G>A	uc003cqp.3	+	53	8369	c.8190G>A	c.(8188-8190)aaG>aaA	p.K2730K	NRADDP_uc011bas.1_5'Flank|NBEAL2_uc010hjm.2_Silent_p.K2107K|NBEAL2_uc010hjn.2_Silent_p.K1096K	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	2730							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCGCGCGGAAGCTGTGGCGGT	0.697000													6	5					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109087815	109087815	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:109087815C>G	uc002tec.3	+	5	2184	c.2030C>G	c.(2029-2031)tCt>tGt	p.S677C	GCC2_uc002ted.3_Missense_Mutation_p.S576C	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	677					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAGTTCTCTCTGAAGACAAA	0.333000													57	99					0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84234378	84234378	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:84234378C>T	uc003pjz.3	+	1	1458	c.1218C>T	c.(1216-1218)aaC>aaT	p.N406N	PRSS35_uc010kbm.3_Silent_p.N406N|PRSS35_uc021zce.1_Silent_p.N406N	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	406	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TTCACGGGAACGATGCCAATT	0.498000													21	24					0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131515492	131515492	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:131515492C>A	uc004bwa.1	-	3	1130	c.697G>T	c.(697-699)Gac>Tac	p.D233Y		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	Homo sapiens zer-1 homolog (C. elegans) (ZER1), mRNA.	233					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TCGGACAGGTCCATGTTGTAG	0.642000													11	3					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993983	140993983	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:140993983C>A	uc004fbt.3	+	3	1117	c.793C>A	c.(793-795)Cag>Aag	p.Q265K	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	265							protein binding	p.Q265K(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTTTTGCCCAGTCTTCTCT	0.488000										HNSCC(15;0.026)			5	164					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906237	144906237	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:144906237A>G	uc022cfn.1	+	0	2294	c.2294A>G	c.(2293-2295)gAa>gGa	p.E765G	SLITRK2_uc004fcd.3_Missense_Mutation_p.E765G|SLITRK2_uc010nsp.3_Missense_Mutation_p.E765G|SLITRK2_uc010nso.3_Missense_Mutation_p.E765G|SLITRK2_uc011mwq.2_Missense_Mutation_p.E765G|SLITRK2_uc011mwr.2_Missense_Mutation_p.E765G|SLITRK2_uc011mws.2_Missense_Mutation_p.E765G|SLITRK2_uc004fcg.3_Missense_Mutation_p.E765G|SLITRK2_uc011mwt.2_Missense_Mutation_p.E765G|CXorf1_uc004fch.3_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	765						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CGAGTCAAGGAACTTCCCAGC	0.478000													20	267					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419839	19419839	+	RNA	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr13:19419839A>G	uc010tcj.1	-	0		c.26271T>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TACTAAAGCAAAAAAAAACCT	0.284000													3	46					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188327559	188327559	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr3:188327559C>G	uc003frs.2	+	5	1286	c.1040C>G	c.(1039-1041)cCa>cGa	p.P347R	LPP_uc011bsg.2_Intron|LPP_uc011bsi.2_Missense_Mutation_p.P347R|LPP_uc003frt.3_Missense_Mutation_p.P347R|LPP_uc011bsj.2_Missense_Mutation_p.P184R	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	347	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GGGATGTATCCAGTCACTGGT	0.522000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								33	56					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993386	24993386	+	Missense_Mutation	SNP	G	G	T	rs78787676	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:24993386G>T	uc001bjm.3	+	12	1933	c.1709G>T	c.(1708-1710)cGc>cTc	p.R570L	SRRM1_uc010oel.2_Missense_Mutation_p.R582L|SRRM1_uc009vrh.1_Missense_Mutation_p.R543L|SRRM1_uc009vri.1_Missense_Mutation_p.R499L|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	570	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding	p.R570L(4)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCGACGGCGCAGGACTCCC	0.557000													5	36					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941049	13941049	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr19:13941049T>C	uc002mxh.1	+	12	2344	c.2155T>C	c.(2155-2157)Ttc>Ctc	p.F719L	ZSWIM4_uc010xng.1_Missense_Mutation_p.F642L	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	719							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GTATTCCTTATTCACACCAGT	0.602000													34	11					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30268692	30268692	+	Missense_Mutation	SNP	G	G	T	rs2856741		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:30268692G>T	uc022buh.1	+	0	82	c.82G>T	c.(82-84)Gct>Tct	p.A28S	MAGEB1_uc004dcc.3_Missense_Mutation_p.A28S|MAGEB1_uc004dcd.3_Missense_Mutation_p.A28S|MAGEB1_uc004dce.3_Missense_Mutation_p.A28S	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	28				A -> R (in Ref. 1; CAA57889).						NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TCTCAAGGTTGCTCACGCCAC	0.602000													7	24					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2953022	2953022	+	Missense_Mutation	SNP	C	C	T	rs141681466		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:2953022C>T	uc003smv.3	-	21	3252	c.2918G>A	c.(2917-2919)cGc>cAc	p.R973H		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	973	Guanylate kinase-like.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGGCCGGCGGCGCTCGCAGTA	0.647000			Mis		DLBCL								49	71					0	0	1	0	0
ZRANB1	54764	broad.mit.edu	37	10	126672148	126672148	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:126672148G>A	uc010qug.2	+	8	1981	c.1877G>A	c.(1876-1878)cGa>cAa	p.R626Q	ZRANB1_uc001lic.3_Missense_Mutation_p.R600Q	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 1 (ZRANB1), mRNA.	600	TRAF-binding.				Wnt receptor signaling pathway|positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TATGGCAACCGAGGTGCTGGT	0.468000													24	44					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39981249	39981249	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr20:39981249A>T	uc010ggh.3	+	9	1461	c.1370A>T	c.(1369-1371)aAa>aTa	p.K457I	LPIN3_uc002xjx.3_Missense_Mutation_p.K456I|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	456					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TGCCCAGAGAAATTCAACCAG	0.567000													14	596					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238722	57238722	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr16:57238722G>A	uc002elb.3	+	1	430	c.152G>A	c.(151-153)gGa>gAa	p.G51E	RSPRY1_uc002elc.3_Missense_Mutation_p.G51E|RSPRY1_uc002eld.3_Missense_Mutation_p.G51E|RSPRY1_uc002ele.1_Missense_Mutation_p.G51E	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	51						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GATGACAGTGGAACAGATGAC	0.552000													93	103					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415783	19415783	+	RNA	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr13:19415783G>A	uc010tcj.1	-	0		c.30327C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AGCAGCAGAAGATGTACTATG	0.308000													3	26					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589885	156589885	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:156589885G>A	uc003lwn.3	-	1	1491	c.1391C>T	c.(1390-1392)gCg>gTg	p.A464V		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	464						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGGAAGACGCTTTCTGATT	0.512000													94	72					0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10659423	10659423	+	Splice_Site	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:10659423A>G	uc001arn.3	+	4	319	c.298_splice	c.e4+1	p.S100_splice	PEX14_uc009vmu.1_Intron|PEX14_uc009vmv.3_Splice_Site_p.S36_splice|PEX14_uc010oam.2_Splice_Site_p.S36_splice|PEX14_uc010oan.2_Intron|PEX14_uc009vmw.3_Splice_Site_p.S36_splice	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	100					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGCCATACAGTAAGTCACC	0.557000													16	74					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65916138	65916138	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:65916138C>T	uc002jgf.3	+	12	5497	c.5436C>T	c.(5434-5436)tcC>tcT	p.S1812S	BPTF_uc002jge.3_Silent_p.S1938S	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1938					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAGAAACATCCGAAACTGAAA	0.343000													42	14					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7417153	7417153	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:7417153C>T	uc002ghf.4	+	28	5956	c.5570C>T	c.(5569-5571)tCt>tTt	p.S1857F		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1857	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCCCAACCTCTCCCAAGTAC	0.567000													104	154					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43675666	43675666	+	Silent	SNP	A	A	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:43675666A>C	uc003joe.3	+	17	2943	c.2688A>C	c.(2686-2688)tcA>tcC	p.S896S	NNT_uc003jof.3_Silent_p.S896S	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	896					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GCACCACTTCAACAGCTGGTG	0.403000													21	44					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6031879	6031879	+	Silent	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:6031879G>A	uc001qnm.2	-	1	174	c.102C>T	c.(100-102)ctC>ctT	p.L34L	ANO2_uc021qtt.1_Silent_p.L38L	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	38						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGGCATCTTGAGACACTGCT	0.662000													6	6					0	0	1	0	0
AOC4	90586	broad.mit.edu	37	17	41019567	41019567	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:41019567C>T	uc002ibw.1	+	0	406	c.272C>T	c.(271-273)tCg>tTg	p.S91L	AF047486_uc002ibx.3_5'Flank					Homo sapiens AOC3 pseudogene (AOC4), non-coding RNA.																		GCCCAGCCCTCGGACAACTGT	0.662000													103	38					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17710478	17710478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:17710478C>T	uc011mix.2	+	2	1080	c.742C>T	c.(742-744)Cga>Tga	p.R248*	NHS_uc004cxx.3_Nonsense_Mutation_p.R248*|NHS_uc004cxy.3_Nonsense_Mutation_p.R71*|NHS_uc004cxz.3_Nonsense_Mutation_p.R71*|NHS_uc004cya.3_5'UTR	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	248						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAGCGATCGCCGAGAGCAAAG	0.532000													33	62					0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45948052	45948052	+	Missense_Mutation	SNP	C	C	A	rs142831797		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr11:45948052C>A	uc001nbv.1	+	8	1179	c.1068C>A	c.(1066-1068)ttC>ttA	p.F356L	GYLTL1B_uc001nbw.1_Missense_Mutation_p.F325L|GYLTL1B_uc001nbx.1_Missense_Mutation_p.F356L	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	356					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TGGAATTCTTCCGCAATTTCT	0.582000													36	5					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16872832	16872832	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr19:16872832C>T	uc002neu.4	+	7	2438	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	NWD1_uc002net.4_Silent_p.S537S|NWD1_uc002nev.4_Silent_p.S466S|NWD1_uc021uqg.1_Silent_p.S537S	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	672							ATP binding	p.L672L(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTCAGGATCCGAGAGAGCCA	0.577000													13	38					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57535038	57535038	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:57535038delA	uc009vzx.1	-	7	978	c.658delT	c.(658-660)tatfs	p.Y220fs	DAB1_uc001cyt.1_Frame_Shift_Del_p.Y220fs|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Frame_Shift_Del_p.Y220fs	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	220					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TATACCTGATAAATGTTTTCT	0.423													47	43	---	---	---	---					
RFC1	5981	broad.mit.edu	37	4	39304717	39304718	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr4:39304717_39304718delTC	uc003gty.2	-	15	2307_2308	c.2167_2168delGA	c.(2167-2169)gatfs	p.D723fs	RFC1_uc003gtx.2_Frame_Shift_Del_p.D722fs	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	723					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCCATGCCATCTACTTCATCC	0.416													16	30	---	---	---	---					
MAP3K1	4214	broad.mit.edu	37	5	56178633	56178643	+	Frame_Shift_Del	DEL	CCCCATAGTTC	CCCCATAGTTC	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:56178633_56178643delCCCCATAGTTC	uc003jqw.4	+	13	4107_4117	c.3606_3616delCCCCATAGTTC	c.(3604-3618)ctccccatagttcctfs	p.L1202fs		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	1202					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.D1206H(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGGATGCCCTCCCCATAGTTCCTCAGCTGCA	0.417													18	32	---	---	---	---					
SRPK3	26576	broad.mit.edu	37	X	153050878	153050883	+	In_Frame_Del	DEL	CACAGT	CACAGT	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:153050878_153050883delCACAGT	uc004fik.3	+	20	4230_4235	c.1805_1810delCACAGT	c.(1804-1812)acacagttc>atc	p.602_604TQF>I	SRPK3_uc004fim.3_In_Frame_Del_p.502_504TQF>I|SRPK3_uc004fil.3_In_Frame_Del_p.536_538TQF>I|SRPK3_uc004fin.3_In_Frame_Del_p.535_537TQF>I|SRPK3_uc010nul.3_In_Frame_Del_p.460_462TQF>I	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	536					cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGCAGGCCACACAGTTCAGCGCCTT	0.626													49	97	---	---	---	---					
