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
ZBTB40	9923	broad.mit.edu	37	1	22816908	22816908	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr1:22816908A>G	uc001bft.2	+	3	978	c.467A>G	c.(466-468)GAG>GGG	p.E156G	ZBTB40_uc001bfu.2_Missense_Mutation_p.E156G|ZBTB40_uc009vqi.1_Missense_Mutation_p.E156G	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	156					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GGTGCTGGAGAGCCTCATTCT	0.517000												
SPTA1	6708	broad.mit.edu	37	1	158605726	158605726	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr1:158605726C>A	uc001fst.1	-	38	5608	c.5409G>T	c.(5407-5409)AAG>AAT	p.K1803N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1803	Spectrin 17.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					ACTCTTTGAGCTTCTCCCAGT	0.527000												
FCRL6	343413	broad.mit.edu	37	1	159779403	159779403	+	Silent	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr1:159779403G>A	uc001fud.3	+	5	858	c.816G>A	c.(814-816)GGG>GGA	p.G272G	FCRL6_uc001fuc.2_Silent_p.G279G|FCRL6_uc009wsz.1_Silent_p.G177G|FCRL6_uc009wta.2_Silent_p.G272G	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	272	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)					AGGATGCTGGGAACTACTCCT	0.522000												
ANKRD45	339416	broad.mit.edu	37	1	173628361	173628361	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr1:173628361G>A	uc001gja.1	-	2	258	c.197C>T	c.(196-198)GCC>GTC	p.A66V	ANKRD45_uc001gjb.3_Missense_Mutation_p.A66V	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	82											0						AAGCTGCATGGCCTGTTCATG	0.458000												
LAD1	3898	broad.mit.edu	37	1	201355485	201355485	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr1:201355485C>T	uc001gwm.2	-	3	1239	c.1004G>A	c.(1003-1005)CGC>CAC	p.R335H	LAD1_uc009wzu.1_Missense_Mutation_p.R357H	NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	335						basement membrane	structural molecule activity				0						GGGTGGGAGGCGGGAGGCCAC	0.662000												
TRAF3IP3	80342	broad.mit.edu	37	1	209933490	209933490	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr1:209933490C>T	uc001hho.2	+	3	396	c.106C>T	c.(106-108)CGT>TGT	p.R36C	TRAF3IP3_uc001hhl.2_Missense_Mutation_p.R36C|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.R36C|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.R36C|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.R36C	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	36	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CCGCCGCTGCCGTCCCAATGT	0.637000												
CDH23	64072	broad.mit.edu	37	10	73569654	73569654	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr10:73569654G>T	uc001jrx.3	+	59	9177	c.8800G>T	c.(8800-8802)GCC>TCC	p.A2934S	CDH23_uc001jsg.3_Missense_Mutation_p.A694S|CDH23_uc001jsh.3_Missense_Mutation_p.A694S|CDH23_uc001jsi.3_Missense_Mutation_p.A694S|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2934	Cadherin 27.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						GGACATTGTGGCCCGAGACCT	0.617000												
C10orf12	26148	broad.mit.edu	37	10	98744132	98744132	+	Silent	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr10:98744132C>T	uc001kmv.2	+	1	3092	c.2985C>T	c.(2983-2985)GCC>GCT	p.A995A		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	995										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCACTCCAGCCAGTACCCGGA	0.473000												
DUSP5	1847	broad.mit.edu	37	10	112257894	112257894	+	Silent	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr10:112257894G>A	uc001kzd.2	+	1	270	c.15G>A	c.(13-15)TCG>TCA	p.S5S		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	5					endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AGGTCACGTCGCTCGACGGGC	0.547000												
PDZD8	118987	broad.mit.edu	37	10	119044050	119044050	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr10:119044050C>A	uc001lde.1	-	5	2393	c.2194G>T	c.(2194-2196)GTT>TTT	p.V732F		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	732					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TTTAAACTAACATGCCCCAAA	0.438000												
WEE1	7465	broad.mit.edu	37	11	9610042	9610042	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:9610042G>T	uc001mhs.2	+	11	2087	c.1834G>T	c.(1834-1836)GCA>TCA	p.A612S	WEE1_uc001mht.2_Missense_Mutation_p.A398S	NM_003390	NP_003381	P30291	WEE1_HUMAN	WEE1 tyrosine kinase isoform 1	612					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TGAGGAAAGAGCACTCTTCAC	0.423000												
AMPD3	272	broad.mit.edu	37	11	10515007	10515007	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:10515007C>T	uc001mio.1	+	7	1386	c.1051C>T	c.(1051-1053)CGG>TGG	p.R351W	AMPD3_uc010rbz.1_Missense_Mutation_p.R192W|AMPD3_uc001min.1_Missense_Mutation_p.R360W|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.R358W|AMPD3_uc009yfy.2_Missense_Mutation_p.R351W	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	351					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GAAGCGGGGCCGGAAGATCAC	0.597000												
NELL1	4745	broad.mit.edu	37	11	20907026	20907026	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:20907026C>A	uc001mqe.2	+	5	696	c.543C>A	c.(541-543)AAC>AAA	p.N181K	NELL1_uc001mqf.2_Missense_Mutation_p.N181K|NELL1_uc009yid.2_Missense_Mutation_p.N209K|NELL1_uc010rdo.1_Missense_Mutation_p.N124K|NELL1_uc010rdp.1_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	181	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						CAGATACCAACCTTCCCCCAG	0.408000												
ACCSL	390110	broad.mit.edu	37	11	44077864	44077864	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:44077864C>A	uc001mxw.1	+	11	1371	c.1315C>A	c.(1315-1317)CTC>ATC	p.L439I	ACCSL_uc009ykr.2_Missense_Mutation_p.L258I	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	439							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						GTGTCAACTGCTCCAGAACAC	0.537000												
FOLH1	2346	broad.mit.edu	37	11	49208203	49208203	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:49208203C>A	uc001ngy.2	-	5	893	c.632G>T	c.(631-633)GGA>GTA	p.G211V	FOLH1_uc001ngz.2_Missense_Mutation_p.G211V|FOLH1_uc009yly.2_Missense_Mutation_p.G196V|FOLH1_uc009ylz.2_Missense_Mutation_p.G196V|FOLH1_uc009yma.2_5'UTR	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	211	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TACCTTATTTCCTCTGAAAAC	0.323000												
OR5T2	219464	broad.mit.edu	37	11	56000542	56000542	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:56000542G>T	uc010rjc.1	-	1	120	c.120C>A	c.(118-120)TTC>TTA	p.F40L		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	40	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TCTTCATGTTGAAATCTAGAA	0.358000												
YPEL4	219539	broad.mit.edu	37	11	57413862	57413862	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:57413862C>T	uc001nkv.3	-	4	646	c.202G>A	c.(202-204)GGG>AGG	p.G68R	uc001nkt.1_Intron|YPEL4_uc009ymk.2_RNA	NM_145008	NP_659445	Q96NS1	YPEL4_HUMAN	yippee-like 4	68						nucleolus					0						TCAGCTGGCCCGCAACCCACG	0.567000												
NOP2	4839	broad.mit.edu	37	12	6670140	6670140	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr12:6670140G>A	uc001qph.1	-	12	1472	c.1292C>T	c.(1291-1293)ACC>ATC	p.T431I	NOP2_uc009zeq.1_Missense_Mutation_p.T147I|NOP2_uc001qpi.1_Missense_Mutation_p.T431I|NOP2_uc001qpj.1_Intron	NM_001033714	NP_001028886	P46087	NOP2_HUMAN	nucleolar protein 1, 120kDa	435					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						AATGGTGTTGGTGACTCCCAG	0.547000												
CHD4	1108	broad.mit.edu	37	12	6692406	6692406	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr12:6692406G>A	uc001qpo.2	-	26	4182	c.4018C>T	c.(4018-4020)CGT>TGT	p.R1340C	CHD4_uc001qpn.2_Missense_Mutation_p.R1333C|CHD4_uc001qpp.2_Missense_Mutation_p.R1337C|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1340					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACCTGTTTACGGATTCTTTTT	0.562000												
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr12:25380275T>G	uc001rgp.1	-	3	364	c.183A>C	c.(181-183)CAA>CAC	p.Q61H	KRAS_uc001rgq.1_Missense_Mutation_p.Q61H	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	61	GTP.		Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(140)|p.Q61L(51)|p.Q61R(44)|p.Q61K(24)|p.Q61P(11)|p.Q61E(10)|p.Q61D(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423000	Q61H(T3M4_PANCREAS)|Q61H(HS766T_PANCREAS)|Q61H(NCIH460_LUNG)|Q61H(NCIH1155_LUNG)|Q61H(CL11_LARGE_INTESTINE)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)		
LRP1	4035	broad.mit.edu	37	12	57572341	57572341	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr12:57572341C>A	uc001snd.2	+	27	5027	c.4561C>A	c.(4561-4563)CAG>AAG	p.Q1521K		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1521	LDL-receptor class B 12.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACCAACACCCAGCCCTTTGA	0.627000												
MON2	23041	broad.mit.edu	37	12	62954269	62954269	+	Splice_Site	SNP	A	A	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr12:62954269A>T	uc001sre.2	+	26	3801	c.3410_splice	c.e26-2	p.G1137_splice	MON2_uc009zqj.2_Splice_Site_p.G1137_splice|MON2_uc010ssl.1_Splice_Site_p.G1065_splice|MON2_uc010ssm.1_Splice_Site_p.G1114_splice|MON2_uc010ssn.1_Splice_Site_p.G1137_splice|MON2_uc001srf.2_Splice_Site_p.G900_splice|MON2_uc001srg.2_Silent_p.I11I	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog						Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTCCTAATATAGGAGATTTTT	0.333000												
HVCN1	84329	broad.mit.edu	37	12	111099055	111099055	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr12:111099055C>T	uc001trs.1	-	4	385	c.220G>A	c.(220-222)GTT>ATT	p.V74I	HVCN1_uc001trq.1_Missense_Mutation_p.V74I|HVCN1_uc001trt.1_Missense_Mutation_p.V74I|HVCN1_uc010syd.1_Missense_Mutation_p.V54I	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	74	Cytoplasmic (Potential).				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			skin(1)	1						GCAGGGGCAACGTCAGGGGCT	0.532000												
GCN1L1	10985	broad.mit.edu	37	12	120600695	120600695	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr12:120600695C>T	uc001txo.2	-	20	2132	c.2119G>A	c.(2119-2121)GAT>AAT	p.D707N		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	707					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGATCTGATCCAGGTGCCTG	0.577000												
TMEM132D	121256	broad.mit.edu	37	12	129559375	129559375	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr12:129559375C>T	uc009zyl.1	-	9	2673	c.2345G>A	c.(2344-2346)CGG>CAG	p.R782Q	TMEM132D_uc001uia.2_Missense_Mutation_p.R320Q	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	782	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CACACTCTTCCGCTTGGATTT	0.488000												
ATP8A2	51761	broad.mit.edu	37	13	26106423	26106423	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr13:26106423C>A	uc001uqk.2	+	5	576	c.434C>A	c.(433-435)GCA>GAA	p.A145E	ATP8A2_uc010tdi.1_Missense_Mutation_p.A105E|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.A105E	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	105	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CGACACAAGGCAGACAATGCA	0.328000												
RASA3	22821	broad.mit.edu	37	13	114780806	114780806	+	Silent	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr13:114780806C>T	uc001vui.2	-	14	1415	c.1284G>A	c.(1282-1284)GAG>GAA	p.E428E	RASA3_uc010tkk.1_Silent_p.E396E|RASA3_uc001vuj.2_Silent_p.E45E	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	428	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GCCGTAGGTTCTCCTGCAACG	0.667000												
PRKD1	5587	broad.mit.edu	37	14	30068863	30068863	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr14:30068863T>C	uc001wqh.2	-	14	2247	c.2066A>G	c.(2065-2067)CAG>CGG	p.Q689R		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	689	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATTTCTTACCTGAGTAATTAA	0.348000												
AK7	122481	broad.mit.edu	37	14	96904253	96904253	+	Splice_Site	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr14:96904253G>A	uc001yfn.2	+	6	734	c.690_splice	c.e6+1	p.K230_splice		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7						cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATTTTTTAAGGTATGGCTTTC	0.398000												
TP53BP1	7158	broad.mit.edu	37	15	43712659	43712659	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr15:43712659C>A	uc001zrs.2	-	21	4658	c.4510G>T	c.(4510-4512)GGG>TGG	p.G1504W	TP53BP1_uc010udp.1_Missense_Mutation_p.G1504W|TP53BP1_uc001zrq.3_Missense_Mutation_p.G1509W|TP53BP1_uc001zrr.3_Missense_Mutation_p.G1509W|TP53BP1_uc010udq.1_Missense_Mutation_p.G1509W	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1504	Interaction with dimethylated histone H4.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTGATTTTCCCAGAGTAAAAG	0.473000								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes				
SH3GL3	6457	broad.mit.edu	37	15	84255786	84255786	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr15:84255786C>T	uc002bjw.2	+	7	871	c.676C>T	c.(676-678)CAC>TAC	p.H226Y	SH3GL3_uc010uot.1_Missense_Mutation_p.H226Y|SH3GL3_uc002bjx.2_Missense_Mutation_p.H157Y|SH3GL3_uc002bju.2_Missense_Mutation_p.H234Y|SH3GL3_uc002bjv.2_RNA	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	226	BAR.|Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			pancreas(1)|central_nervous_system(1)|skin(1)	3						ATTAGACTATCACAGACAGTC	0.502000												
AQP8	343	broad.mit.edu	37	16	25228603	25228603	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr16:25228603C>T	uc002doc.2	+	2	179	c.97C>T	c.(97-99)CGG>TGG	p.R33W		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	33	Cytoplasmic (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		CTGGTACGAACGGTTTGTGCA	0.572000												
RLTPR	146206	broad.mit.edu	37	16	67683840	67683840	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr16:67683840G>T	uc002etn.2	+	21	2171	c.2051G>T	c.(2050-2052)CGC>CTC	p.R684L	RLTPR_uc010cel.1_Missense_Mutation_p.R677L|RLTPR_uc010vjr.1_Missense_Mutation_p.R648L	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	684	LRR 16.									breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGCGCAGCCGCCCGGAACTG	0.647000												
CDH1	999	broad.mit.edu	37	16	68844181	68844181	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr16:68844181G>A	uc002ewg.1	+	6	893	c.769G>A	c.(769-771)GAC>AAC	p.D257N	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D257N	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	257	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.D257G(1)|p.D254fs*9(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CGATCAGAATGACAACAAGCC	0.463000			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer			
IL17C	27189	broad.mit.edu	37	16	88705717	88705717	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr16:88705717G>A	uc002fla.2	+	2	384	c.335G>A	c.(334-336)CGT>CAT	p.R112H		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	interleukin 17C precursor	112					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(80;0.0477)		TGGAGATACCGGTGAGGACCT	0.687000												
CCDC42	146849	broad.mit.edu	37	17	8646997	8646997	+	Missense_Mutation	SNP	C	C	T	rs145016058		TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr17:8646997C>T	uc002gln.2	-	3	468	c.241G>A	c.(241-243)GTT>ATT	p.V81I	CCDC42_uc002glo.2_Missense_Mutation_p.V81I	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	81	Potential.									ovary(1)	1						GCTTCCTTAACGCCCAGTTCC	0.587000												
SARM1	23098	broad.mit.edu	37	17	26686415	26686415	+	Silent	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr17:26686415C>T	uc010wah.1	+	3	370	c.363C>T	c.(361-363)AAC>AAT	p.N121N	POLDIP2_uc002haz.2_5'Flank|POLDIP2_uc010wag.1_5'Flank|TMEM199_uc002hba.2_Silent_p.N121N	NM_152464	NP_689677	Q6SZW1	SARM1_HUMAN	transmembrane protein 199	Error:Variant_position_missing_in_Q6SZW1_after_alignment					innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCACCCGCAACGTCACTTGTC	0.468000												
NF1	4763	broad.mit.edu	37	17	29662040	29662040	+	Silent	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr17:29662040C>T	uc002hgg.2	+	40	6330	c.5997C>T	c.(5995-5997)AGC>AGT	p.S1999S	NF1_uc002hgh.2_Silent_p.S1978S|NF1_uc010cso.2_Silent_p.S187S|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1999					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATGGGGAAGCCTTGGGCAGG	0.284000			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
MAPT	4137	broad.mit.edu	37	17	44073913	44073913	+	Silent	SNP	G	G	A	rs115142761	by1000genomes	TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr17:44073913G>A	uc002ijr.3	+	10	1976	c.1656G>A	c.(1654-1656)TCG>TCA	p.S552S	MAPT_uc010dau.2_Silent_p.S570S|MAPT_uc002ijs.3_Silent_p.S235S|MAPT_uc002ijx.3_Silent_p.S206S|MAPT_uc002ijt.3_Silent_p.S177S|MAPT_uc002iju.3_Silent_p.S177S|MAPT_uc002ijv.3_Silent_p.S184S|STH_uc002ijy.2_5'Flank	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	552				S->A: 70% decrease in microtubule-binding after in vitro phosphorylation of mutant protein.|S->E: No association with plasma membrane.	cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				CACCCAAGTCGCCGTCTTCCG	0.662000												
GRIN2C	2905	broad.mit.edu	37	17	72846372	72846372	+	Silent	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr17:72846372G>A	uc002jlt.1	-	6	1620	c.1464C>T	c.(1462-1464)CGC>CGT	p.R488R	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.R488R	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	488	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TCCATACGCCGCGCACCCGCT	0.622000												
LAMA1	284217	broad.mit.edu	37	18	7049076	7049076	+	Splice_Site	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr18:7049076C>T	uc002knm.2	-	5	862	c.768_splice	c.e5+1	p.R256_splice	LAMA1_uc010wzj.1_Splice_Site	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor						axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCATACTCACGCGTCTGGTA	0.413000												
C18orf26	284254	broad.mit.edu	37	18	52265293	52265293	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr18:52265293G>T	uc002lfq.1	+	3	596	c.550G>T	c.(550-552)GCC>TCC	p.A184S	C18orf26_uc002lfp.1_Missense_Mutation_p.A132S	NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	hypothetical protein LOC284254	184	Thr-rich.					integral to membrane					0				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		TGCAAGTACAGCCACTGAATC	0.463000												
ZNF555	148254	broad.mit.edu	37	19	2852504	2852504	+	Silent	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:2852504G>A	uc002lwo.2	+	4	530	c.441G>A	c.(439-441)ACG>ACA	p.T147T	ZNF555_uc002lwn.3_Silent_p.T146T	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AATACAACACGTACGGAAAAG	0.458000												
C3	718	broad.mit.edu	37	19	6707512	6707512	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:6707512C>T	uc002mfm.2	-	16	2074	c.2012G>A	c.(2011-2013)CGT>CAT	p.R671H		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	671					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTGCACGGAACGGCGTCGGCG	0.647000												
OR7D2	162998	broad.mit.edu	37	19	9296503	9296503	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:9296503G>A	uc002mkz.1	+	1	234	c.46G>A	c.(46-48)GGA>AGA	p.G16R		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	16	Extracellular (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						TATCCTTCTCGGACTCTCTGA	0.413000												
ZNF560	147741	broad.mit.edu	37	19	9578204	9578204	+	Silent	SNP	T	T	C			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:9578204T>C	uc002mlp.1	-	10	1629	c.1419A>G	c.(1417-1419)TCA>TCG	p.S473S	ZNF560_uc010dwr.1_Silent_p.S367S	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						CAATAACACCTGAGGATGTAC	0.388000												
C19orf56	51398	broad.mit.edu	37	19	12779424	12779424	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:12779424C>T	uc002mud.2	-	3	412	c.164G>A	c.(163-165)TGG>TAG	p.W55*	MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_5'UTR|WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_5'Flank	NM_016145	NP_057229	Q9Y284	CS056_HUMAN	hypothetical protein LOC51398	55	Helical; (Potential).					integral to membrane					0						CCAAGCACACCACTTCAGCTA	0.522000												
EPHX3	79852	broad.mit.edu	37	19	15342889	15342889	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:15342889G>A	uc002nap.2	-	1	343	c.134C>T	c.(133-135)ACG>ATG	p.T45M	EPHX3_uc002naq.2_Missense_Mutation_p.T45M	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	abhydrolase domain containing 9 precursor	45						extracellular region	hydrolase activity				0						CAGCACGTGCGTGAGCGCTAT	0.736000												
ZNF85	7639	broad.mit.edu	37	19	21131567	21131567	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:21131567G>C	uc002npg.3	+	4	374	c.247G>C	c.(247-249)GCC>CCC	p.A83P	ZNF85_uc010ecn.2_Missense_Mutation_p.A18P|ZNF85_uc010eco.2_Missense_Mutation_p.A31P|ZNF85_uc002npi.2_Missense_Mutation_p.A24P	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	83						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1						TTCTCATTTTGCCCAAGACCT	0.299000												
PPP1R13L	10848	broad.mit.edu	37	19	45888866	45888866	+	Silent	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:45888866G>A	uc002pbn.2	-	11	2279	c.2202C>T	c.(2200-2202)TGC>TGT	p.C734C	PPP1R13L_uc002pbm.2_Silent_p.C313C|PPP1R13L_uc002pbo.2_Silent_p.C734C	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	734					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGTAAGGGTCGCACTTCTCGA	0.682000												
BAX	581	broad.mit.edu	37	19	49464847	49464847	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:49464847C>T	uc002plk.2	+	6	602	c.533C>T	c.(532-534)GCG>GTG	p.A178V	BAX_uc010xzx.1_RNA|BAX_uc002plj.2_Missense_Mutation_p.A165V|BAX_uc002pll.2_Missense_Mutation_p.A129V|BAX_uc002plm.2_Missense_Mutation_p.A100V	NM_138761	NP_620116	Q07812	BAX_HUMAN	BCL2-associated X protein isoform alpha	178	Helical; (Potential).				activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			lung(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		ATCTTTGTGGCGGGAGTGCTC	0.572000												
KLK13	26085	broad.mit.edu	37	19	51563819	51563819	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr19:51563819G>T	uc002pvn.2	-	2	153	c.110C>A	c.(109-111)CCA>CAA	p.P37Q	KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.P37Q|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Intron|KLK13_uc002pvr.2_Missense_Mutation_p.P37Q	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	kallikrein 13 precursor	37	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GTAGCCACCTGGGAGAAACCC	0.577000												
CCDC142	84865	broad.mit.edu	37	2	74709311	74709311	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr2:74709311T>G	uc002slr.2	-	1	1047	c.654A>C	c.(652-654)AAA>AAC	p.K218N	TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.K218N|CCDC142_uc002slp.2_Missense_Mutation_p.K218N	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	218										central_nervous_system(1)	1						GGCTCAAGGCTTTTCTCTGTA	0.682000												
ASTL	431705	broad.mit.edu	37	2	96795681	96795681	+	Silent	SNP	T	T	C			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr2:96795681T>C	uc010yui.1	-	8	756	c.756A>G	c.(754-756)ACA>ACG	p.T252T		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	252					proteolysis		metalloendopeptidase activity|zinc ion binding				0						CCCAAAGTGGTGTGATGGTGG	0.662000												
CNTNAP5	129684	broad.mit.edu	37	2	125204502	125204502	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr2:125204502C>A	uc002tno.2	+	6	1270	c.906C>A	c.(904-906)GAC>GAA	p.D302E	CNTNAP5_uc010flu.2_Missense_Mutation_p.D302E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	302	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATGCCTTAGACATTGACTATG	0.552000												
TTN	7273	broad.mit.edu	37	2	179605938	179605938	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr2:179605938G>C	uc010zfh.1	-	46	11733	c.11509C>G	c.(11509-11511)CTC>GTC	p.L3837V	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L3770V|TTN_uc010zfj.1_Missense_Mutation_p.L3645V|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGATATAGAGGCCACTGTCT	0.458000												
NEUROD1	4760	broad.mit.edu	37	2	182542847	182542847	+	Silent	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr2:182542847G>A	uc002uof.2	-	2	977	c.741C>T	c.(739-741)CAC>CAT	p.H247H	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	247					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGCTGTAGGCGTGCGGCGGAG	0.612000												
ERBB4	2066	broad.mit.edu	37	2	212543834	212543834	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr2:212543834G>A	uc002veg.1	-	13	1663	c.1565C>T	c.(1564-1566)TCG>TTG	p.S522L	ERBB4_uc002veh.1_Missense_Mutation_p.S522L|ERBB4_uc010zji.1_Missense_Mutation_p.S522L|ERBB4_uc010zjj.1_Missense_Mutation_p.S522L|ERBB4_uc010fut.1_Missense_Mutation_p.S522L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	522	Extracellular (Potential).|Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCGGCGACACGACAGACATTG	0.502000										TSP Lung(8;0.080)		
TMC2	117532	broad.mit.edu	37	20	2575516	2575516	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr20:2575516C>A	uc002wgf.1	+	9	994	c.979C>A	c.(979-981)CAG>AAG	p.Q327K	TMC2_uc002wgg.1_Missense_Mutation_p.Q311K|TMC2_uc010zpw.1_Missense_Mutation_p.Q159K|TMC2_uc010zpx.1_Missense_Mutation_p.Q158K	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	327	Extracellular (Potential).					integral to membrane				ovary(3)	3						CTACAACAACCAGAGGACCAT	0.517000												
JPH2	57158	broad.mit.edu	37	20	42744650	42744650	+	Silent	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr20:42744650C>A	uc002xli.1	-	4	2538	c.1665G>T	c.(1663-1665)TCG>TCT	p.S555S		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	555	Pro-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGGCTCCCGCGACGGCGCAG	0.741000												
CDH4	1002	broad.mit.edu	37	20	60485655	60485655	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr20:60485655G>A	uc002ybn.1	+	9	1380	c.1366G>A	c.(1366-1368)GTG>ATG	p.V456M	CDH4_uc002ybp.1_Missense_Mutation_p.V382M	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	456	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CATGGTCACCGTGGTGAAGGT	0.577000												
CCT8	10694	broad.mit.edu	37	21	30434528	30434528	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr21:30434528C>T	uc002ynb.2	-	11	1232	c.1133G>A	c.(1132-1134)CGA>CAA	p.R378Q	CCT8_uc002ymz.2_5'UTR|CCT8_uc011acp.1_Missense_Mutation_p.R359Q|CCT8_uc002yna.2_Missense_Mutation_p.R327Q|CCT8_uc002ync.2_Missense_Mutation_p.R377Q|CCT8_uc010glm.2_Missense_Mutation_p.R319Q|CCT8_uc011acq.1_Missense_Mutation_p.R305Q	NM_006585	NP_006576	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	378					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding				0						TGTAGAGCCTCGAAGTACTAT	0.353000												
FTCD	10841	broad.mit.edu	37	21	47574136	47574136	+	Silent	SNP	C	C	T	rs143451664		TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr21:47574136C>T	uc002zif.2	-	2	209	c.165G>A	c.(163-165)CCG>CCA	p.P55P	FTCD_uc002zig.2_Silent_p.P55P|FTCD_uc002zih.2_Silent_p.P55P|FTCD_uc010gqf.2_Silent_p.P55P|FTCD_uc010gqg.1_5'UTR	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	55	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			pancreas(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCACGCACTCCGGCGGCCCCA	0.657000												
POLR2F	5435	broad.mit.edu	37	22	38352792	38352792	+	Silent	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr22:38352792C>T	uc003aul.2	+	2	154	c.33C>T	c.(31-33)GAC>GAT	p.D11D	POLR2F_uc010gxi.2_Translation_Start_Site|POLR2F_uc003aum.2_RNA	NM_021974	NP_068809	P61218	RPAB2_HUMAN	DNA directed RNA polymerase II polypeptide F	11					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)	1	Melanoma(58;0.045)					TTGATGGCGACGACTTTGATG	0.403000												
EFHB	151651	broad.mit.edu	37	3	19961394	19961394	+	Silent	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:19961394G>A	uc003cbl.3	-	3	1123	c.927C>T	c.(925-927)TAC>TAT	p.Y309Y	EFHB_uc003cbm.2_Silent_p.Y179Y	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	309					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						TTGCTCTTCCGTAAAATACTC	0.348000												
NEK10	152110	broad.mit.edu	37	3	27326409	27326409	+	Silent	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:27326409C>T	uc003cdt.1	-	22	2107	c.1833G>A	c.(1831-1833)CCG>CCA	p.P611P	NEK10_uc003cds.1_Silent_p.P8P	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3	611	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						GCTCTCCAAGCGGGGCTCCTT	0.328000												
ULK4	54986	broad.mit.edu	37	3	41288432	41288432	+	Silent	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:41288432G>A	uc003ckv.3	-	37	4017	c.3816C>T	c.(3814-3816)GCC>GCT	p.A1272A	ULK4_uc003cku.3_RNA	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	1272							ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGTGCCCAACGGCTTGGAGGA	0.537000												
NKTR	4820	broad.mit.edu	37	3	42680413	42680413	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:42680413G>A	uc003clo.2	+	13	3364	c.3217G>A	c.(3217-3219)GTG>ATG	p.V1073M	NKTR_uc003clm.1_Missense_Mutation_p.V820M|NKTR_uc003clp.2_Missense_Mutation_p.V820M|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.V963M|NKTR_uc003clr.1_Missense_Mutation_p.V820M|NKTR_uc003cls.2_Missense_Mutation_p.V773M	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1073					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ACATGATACAGTGACTGTTTC	0.323000												
ARL6IP5	10550	broad.mit.edu	37	3	69134225	69134225	+	Silent	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:69134225C>T	uc003dnr.2	+	1	136	c.27C>T	c.(25-27)CGC>CGT	p.R9R		NM_006407	NP_006398	O75915	PRAF3_HUMAN	ADP-ribosylation-like factor 6 interacting	9	Cytoplasmic (By similarity).				L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		CCCCACTCCGCGCCTGGGACG	0.582000												
MITF	4286	broad.mit.edu	37	3	70014308	70014308	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:70014308A>G	uc003dnz.2	+	10	1588	c.1472A>G	c.(1471-1473)GAT>GGT	p.D491G	MITF_uc011bgb.1_Missense_Mutation_p.D439G|MITF_uc003doa.2_Missense_Mutation_p.D490G|MITF_uc003dob.2_Missense_Mutation_p.D475G|MITF_uc003dod.2_Missense_Mutation_p.D466G|MITF_uc003doe.2_Missense_Mutation_p.D384G|MITF_uc003dof.2_Missense_Mutation_p.D390G	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	497					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GGTGTCACTGATCCACTCCTT	0.542000			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome					
FSTL1	11167	broad.mit.edu	37	3	120128474	120128474	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:120128474G>A	uc003eds.2	-	6	542	c.367C>T	c.(367-369)CGT>TGT	p.R123C	FSTL1_uc011bjh.1_Missense_Mutation_p.R88C	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	follistatin-like 1 precursor	123					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.189)		ATGATGCGACGTCGGAGCTCA	0.502000												
MED12L	116931	broad.mit.edu	37	3	150834128	150834128	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:150834128G>A	uc003eyp.2	+	2	141	c.103G>A	c.(103-105)GAA>AAA	p.E35K	MED12L_uc011bnz.1_Missense_Mutation_p.E35K|MED12L_uc003eym.1_Missense_Mutation_p.E35K|MED12L_uc003eyn.2_Missense_Mutation_p.E35K|MED12L_uc003eyo.2_Missense_Mutation_p.E35K	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	35					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGAACAGGATGAACTTACTGC	0.378000												
IGSF10	285313	broad.mit.edu	37	3	151165492	151165492	+	Silent	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:151165492C>A	uc011bod.1	-	4	2277	c.2277G>T	c.(2275-2277)CTG>CTT	p.L759L		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	759					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTTCTCCAACAGTGCCGCCC	0.507000												
GAK	2580	broad.mit.edu	37	4	877125	877125	+	Missense_Mutation	SNP	C	C	T	rs145652195	byFrequency	TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr4:877125C>T	uc003gbm.3	-	13	1581	c.1382G>A	c.(1381-1383)CGG>CAG	p.R461Q	GAK_uc003gbn.3_Missense_Mutation_p.R382Q|GAK_uc010ibk.1_Missense_Mutation_p.R355Q|GAK_uc003gbl.3_Missense_Mutation_p.R325Q	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	461	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		CCTGGAGGGCCGGTAGGTCCT	0.592000												
HTT	3064	broad.mit.edu	37	4	3134614	3134614	+	Silent	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr4:3134614C>T	uc011bvq.1	+	19	2620	c.2475C>T	c.(2473-2475)TGC>TGT	p.C825C		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	823	HEAT 4.			C -> S (in Ref. 2; BAA36753).	establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTGTTACTTGCAAGTTAGCTT	0.388000												
AFAP1	60312	broad.mit.edu	37	4	7787971	7787971	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr4:7787971G>A	uc003gkg.1	-	12	1753	c.1480C>T	c.(1480-1482)CCC>TCC	p.P494S	AFAP1_uc011bwk.1_Missense_Mutation_p.P494S	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	494						actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						GTCCCGCTGGGGTGGGCATAG	0.498000												
BANK1	55024	broad.mit.edu	37	4	102776247	102776247	+	Silent	SNP	T	T	C			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr4:102776247T>C	uc003hvy.3	+	3	799	c.525T>C	c.(523-525)TCT>TCC	p.S175S	BANK1_uc003hvx.3_Silent_p.S160S|BANK1_uc010ill.2_Silent_p.S42S|BANK1_uc003hvz.3_Silent_p.S145S	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	175					B cell activation					ovary(2)|skin(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CAAAACATTCTGGGGAAATAA	0.373000												
TRPC3	7222	broad.mit.edu	37	4	122800956	122800956	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr4:122800956C>A	uc003ieg.2	-	12	2775	c.2701G>T	c.(2701-2703)GAA>TAA	p.E901*	TRPC3_uc010inr.2_Nonsense_Mutation_p.E773*|TRPC3_uc003ief.2_Nonsense_Mutation_p.E828*|TRPC3_uc011cgl.1_Nonsense_Mutation_p.E565*	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	816	Extracellular (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						ATGGCTAATTCCTCAGTTGCT	0.363000												
PCDH10	57575	broad.mit.edu	37	4	134076167	134076167	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr4:134076167C>A	uc003iha.2	+	3	3612	c.2786C>A	c.(2785-2787)GCC>GAC	p.A929D		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	929	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		ACCAACCGTGCCCAGTCAGCT	0.423000												
LRBA	987	broad.mit.edu	37	4	151242451	151242451	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr4:151242451G>C	uc010ipj.2	-	51	8029	c.7555C>G	c.(7555-7557)CCT>GCT	p.P2519A	LRBA_uc010ipi.2_Missense_Mutation_p.P41A|LRBA_uc003ils.3_Missense_Mutation_p.P414A|LRBA_uc003ilt.3_Missense_Mutation_p.P1167A|LRBA_uc003ilu.3_Missense_Mutation_p.P2508A	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2519						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TGAGTAACAGGGGAGTTGGAG	0.512000												
MTRR	4552	broad.mit.edu	37	5	7897003	7897003	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:7897003A>G	uc003jed.2	+	13	1814	c.1784A>G	c.(1783-1785)GAT>GGT	p.D595G	MTRR_uc003jee.3_Missense_Mutation_p.D568G|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	595					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CAACACCCAGATGGAAATTTT	0.348000												
HTR1A	3350	broad.mit.edu	37	5	63256626	63256626	+	Silent	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:63256626C>A	uc011cqt.1	-	1	921	c.921G>T	c.(919-921)CTG>CTT	p.L307L		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	307	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCTCGCTGGGCAGAGGCAAGT	0.647000												
MAP1B	4131	broad.mit.edu	37	5	71492953	71492953	+	Silent	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:71492953G>A	uc003kbw.3	+	5	4012	c.3771G>A	c.(3769-3771)CCG>CCA	p.P1257P	MAP1B_uc010iyw.1_Silent_p.P1274P|MAP1B_uc010iyx.1_Silent_p.P1131P|MAP1B_uc010iyy.1_Silent_p.P1131P	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1257						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CGAAGAGCCCGTCCCTGAGTC	0.498000												
TNPO1	3842	broad.mit.edu	37	5	72157667	72157667	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:72157667G>C	uc003kck.3	+	5	535	c.388G>C	c.(388-390)GAA>CAA	p.E130Q	TNPO1_uc011csi.1_Intron|TNPO1_uc011csj.1_Missense_Mutation_p.E80Q|TNPO1_uc003kch.2_Missense_Mutation_p.E122Q|TNPO1_uc003kci.3_Missense_Mutation_p.E122Q|TNPO1_uc003kcg.3_Missense_Mutation_p.E122Q	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	130					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTCCAAGGGAGAATTGCAGAA	0.383000												
GPR98	84059	broad.mit.edu	37	5	89938513	89938513	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:89938513G>C	uc003kju.2	+	12	2397	c.2301G>C	c.(2299-2301)TTG>TTC	p.L767F	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	767	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAATTATTTTGGAAAATGATG	0.408000												
ARSK	153642	broad.mit.edu	37	5	94918625	94918625	+	Missense_Mutation	SNP	G	G	A	rs149960886		TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:94918625G>A	uc003kld.2	+	4	580	c.422G>A	c.(421-423)CGT>CAT	p.R141H	ARSK_uc010jbg.2_Translation_Start_Site|ARSK_uc011cum.1_RNA	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	arylsulfatase K precursor	141						extracellular region	arylsulfatase activity|metal ion binding			pancreas(1)	1		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CTCAGTAATCGTGTGGAAGCG	0.373000												
SLCO6A1	133482	broad.mit.edu	37	5	101813546	101813546	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:101813546C>A	uc003knn.2	-	3	808	c.636G>T	c.(634-636)AAG>AAT	p.K212N	SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.K212N|SLCO6A1_uc003knq.2_Intron	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	212	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CACTGACAACCTTTATTTCTT	0.338000												
IRF1	3659	broad.mit.edu	37	5	131823676	131823676	+	Silent	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:131823676C>T	uc003kxa.2	-	3	363	c.129G>A	c.(127-129)AAG>AAA	p.K43K	IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Silent_p.K43K|IRF1_uc010jdt.1_Silent_p.K43K	NM_002198	NP_002189	P10914	IRF1_HUMAN	interferon regulatory factor 1	43	IRF tryptophan pentad repeat.				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm					0		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CCCAGCCATGCTTGGCAGCAT	0.537000												
PCDHB7	56129	broad.mit.edu	37	5	140553614	140553614	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:140553614T>G	uc003lit.2	+	1	1372	c.1198T>G	c.(1198-1200)TTC>GTC	p.F400V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	400	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTCGAAAACTTCTATACTCT	0.478000												
FGF18	8817	broad.mit.edu	37	5	170863172	170863172	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:170863172C>T	uc003mbk.2	+	3	682	c.145C>T	c.(145-147)CGT>TGT	p.R49C		NM_003862	NP_003853	O76093	FGF18_HUMAN	fibroblast growth factor 18 precursor	49					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGATGTGAGCCGTAAGCAGCT	0.627000												
DBN1	1627	broad.mit.edu	37	5	176886156	176886156	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr5:176886156C>T	uc003mgy.2	-	11	1241	c.1069G>A	c.(1069-1071)GAT>AAT	p.D357N	DBN1_uc011dga.1_Missense_Mutation_p.D89N|DBN1_uc003mgx.2_Missense_Mutation_p.D359N|DBN1_uc010jkn.1_Missense_Mutation_p.D307N|DBN1_uc003mgz.1_Missense_Mutation_p.D340N	NM_004395	NP_004386	Q16643	DREB_HUMAN	drebrin 1 isoform a	357					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|ovary(1)|lung(1)|skin(1)	6	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGACCTCATCCAGGGCCCGC	0.677000												
HIVEP1	3096	broad.mit.edu	37	6	12120918	12120918	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr6:12120918A>G	uc003nac.2	+	4	1069	c.890A>G	c.(889-891)CAT>CGT	p.H297R	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	297					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCCAACCAACATAATCAACAG	0.418000												
HIST1H2BD	3017	broad.mit.edu	37	6	26158551	26158551	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr6:26158551G>A	uc003ngr.2	+	1	203	c.154G>A	c.(154-156)GAC>AAC	p.D52N	HIST1H2BD_uc003ngs.2_Missense_Mutation_p.D52N	NM_021063	NP_066407	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	52					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|pancreas(1)	2						GGTCCATCCCGACACCGGCAT	0.557000												
ZNF184	7738	broad.mit.edu	37	6	27420700	27420700	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr6:27420700G>T	uc003njj.2	-	5	1449	c.638C>A	c.(637-639)TCA>TAA	p.S213*	ZNF184_uc010jqv.2_Nonsense_Mutation_p.S213*|ZNF184_uc003nji.2_Nonsense_Mutation_p.S213*	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AACTGGGTTTGAATTCTGTTT	0.363000												
PKHD1	5314	broad.mit.edu	37	6	51910975	51910975	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr6:51910975G>T	uc003pah.1	-	24	2695	c.2419C>A	c.(2419-2421)CAA>AAA	p.Q807K	PKHD1_uc003pai.2_Missense_Mutation_p.Q807K	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	807	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GCAGAAATTTGTACAGGGACA	0.418000												
COL12A1	1303	broad.mit.edu	37	6	75865563	75865563	+	Silent	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr6:75865563C>A	uc003phs.2	-	16	3424	c.3258G>T	c.(3256-3258)CGG>CGT	p.R1086R	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1086	Fibronectin type-III 8.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GAGACTTAAACCGAGAAGCTG	0.398000												
MEOX2	4223	broad.mit.edu	37	7	15652168	15652168	+	Silent	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:15652168C>T	uc003stc.2	-	3	1040	c.759G>A	c.(757-759)GCG>GCA	p.A253A	MEOX2_uc011jxw.1_Silent_p.A253A	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	253					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTTCCCGAGCCGCAGCTCCTT	0.507000												
NOD1	10392	broad.mit.edu	37	7	30492160	30492160	+	Silent	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:30492160C>T	uc003tav.2	-	6	1396	c.873G>A	c.(871-873)TCG>TCA	p.S291S	NOD1_uc010kvs.2_Missense_Mutation_p.R246Q	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	291	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						GGTCCAAGTCCGAGTGCAGCT	0.662000												
GLI3	2737	broad.mit.edu	37	7	42005114	42005114	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:42005114G>A	uc011kbh.1	-	15	3648	c.3557C>T	c.(3556-3558)CCG>CTG	p.P1186L	GLI3_uc011kbg.1_Missense_Mutation_p.P1127L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1186					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCGAGTCTGCGGCACAGCGGG	0.657000									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
ABCB1	5243	broad.mit.edu	37	7	87179298	87179298	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:87179298G>T	uc003uiz.1	-	14	1841	c.1423C>A	c.(1423-1425)CAG>AAG	p.Q475K	ABCB1_uc011khc.1_Missense_Mutation_p.Q411K	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	475	ABC transporter 1.|Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ACAGGTTCCTGACTCACCACA	0.423000												
SAMD9L	219285	broad.mit.edu	37	7	92763591	92763591	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:92763591C>A	uc003umh.1	-	5	2910	c.1694G>T	c.(1693-1695)TGG>TTG	p.W565L	SAMD9L_uc003umj.1_Missense_Mutation_p.W565L|SAMD9L_uc003umi.1_Missense_Mutation_p.W565L|SAMD9L_uc010lfb.1_Missense_Mutation_p.W565L|SAMD9L_uc003umk.1_Missense_Mutation_p.W565L|SAMD9L_uc010lfc.1_Missense_Mutation_p.W565L|SAMD9L_uc010lfd.1_Missense_Mutation_p.W565L|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	565										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATAGAAAGCCCAGAAAGTTTC	0.353000												
NRCAM	4897	broad.mit.edu	37	7	107790508	107790508	+	Silent	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:107790508G>A	uc003vfb.2	-	33	4233	c.3762C>T	c.(3760-3762)AGC>AGT	p.S1254S	NRCAM_uc003vfc.2_Silent_p.S1133S|NRCAM_uc011kmk.1_Silent_p.S1156S|NRCAM_uc003vfd.2_Silent_p.S1137S|NRCAM_uc003vfe.2_Silent_p.S1125S|NRCAM_uc003vez.2_Silent_p.S37S|NRCAM_uc003vfa.2_Silent_p.S98S|NRCAM_uc011kmj.1_Silent_p.S100S	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	1254	Cytoplasmic (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						AGTCAACTAGGCTGTCGTCAC	0.438000												
CPA1	1357	broad.mit.edu	37	7	130022031	130022031	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:130022031G>A	uc003vpx.2	+	4	536	c.464G>A	c.(463-465)CGT>CAT	p.R155H	CPA1_uc011kpf.1_Missense_Mutation_p.R67H|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	155					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TATGAAGGGCGTCCCATTTAC	0.552000												
DENND2A	27147	broad.mit.edu	37	7	140285465	140285465	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:140285465C>A	uc010lnj.2	-	3	1314	c.1169G>T	c.(1168-1170)GGT>GTT	p.G390V	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.G390V|DENND2A_uc003vvw.2_Missense_Mutation_p.G390V|DENND2A_uc003vvx.2_Missense_Mutation_p.G390V	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	390										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					CAGGCAGCGACCATGTAACTC	0.502000												
MLL3	58508	broad.mit.edu	37	7	151927335	151927335	+	Silent	SNP	A	A	G			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr7:151927335A>G	uc003wla.2	-	17	3060	c.2841T>C	c.(2839-2841)TTT>TTC	p.F947F	MLL3_uc003wkz.2_Silent_p.F8F	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	947					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CACTGCTAGAAAACAACACAA	0.338000			N		medulloblastoma							
CSMD1	64478	broad.mit.edu	37	8	2823423	2823423	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr8:2823423C>T	uc011kwk.1	-	59	9547	c.9157G>A	c.(9157-9159)GAC>AAC	p.D3053N	CSMD1_uc011kwj.1_Missense_Mutation_p.D2382N|CSMD1_uc010lrg.2_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3053	Extracellular (Potential).|Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGGTGAAGTCGGTCCCAAAC	0.463000												
CSGALNACT1	55790	broad.mit.edu	37	8	19362779	19362779	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr8:19362779C>A	uc011kyn.1	-	4	1631	c.567G>T	c.(565-567)GAG>GAT	p.E189D	CSGALNACT1_uc011kyo.1_Missense_Mutation_p.E189D|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.E188D|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	189	Lumenal (Potential).				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		TGTTCAGGGTCTCCAAGGCTG	0.537000												
KCTD9	54793	broad.mit.edu	37	8	25287389	25287389	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr8:25287389G>C	uc003xeo.2	-	12	1312	c.1154C>G	c.(1153-1155)TCA>TGA	p.S385*	PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	385						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		GACACTTTGTGACATGTGTAG	0.423000												
TRPA1	8989	broad.mit.edu	37	8	72975180	72975180	+	Splice_Site	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr8:72975180C>A	uc003xza.2	-	6	837	c.662_splice	c.e6-1	p.G221_splice		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1							integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	TGCTCTTCACCTTGAGAAGAA	0.333000												
KCNK9	51305	broad.mit.edu	37	8	140631116	140631116	+	Silent	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr8:140631116C>T	uc003yvf.1	-	2	574	c.510G>A	c.(508-510)ACG>ACA	p.T170T	KCNK9_uc003yvg.1_Silent_p.T170T|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	170	Helical; (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGATGCACAGCGTCCCCATGC	0.567000												
MPDZ	8777	broad.mit.edu	37	9	13122132	13122132	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr9:13122132G>T	uc010mia.1	-	36	5048	c.4991C>A	c.(4990-4992)GCA>GAA	p.A1664E	MPDZ_uc003zkx.3_5'Flank|MPDZ_uc003zky.3_Intron|MPDZ_uc010mib.2_Missense_Mutation_p.A369E|MPDZ_uc010mhx.2_Missense_Mutation_p.A486E|MPDZ_uc011lmm.1_Missense_Mutation_p.A523E|MPDZ_uc003zkz.3_Missense_Mutation_p.A357E|MPDZ_uc010mhy.2_Missense_Mutation_p.A1664E|MPDZ_uc010mhz.2_Missense_Mutation_p.A1631E|MPDZ_uc011lmn.1_Missense_Mutation_p.A1631E|MPDZ_uc003zlb.3_Missense_Mutation_p.A1664E	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1664	PDZ 10.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		TTTACATGCTGCTCCTTCTTC	0.423000												
BNC2	54796	broad.mit.edu	37	9	16436468	16436468	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr9:16436468C>A	uc003zml.2	-	6	1864	c.1724G>T	c.(1723-1725)AGT>ATT	p.S575I	BNC2_uc011lmw.1_Missense_Mutation_p.S480I|BNC2_uc003zmm.2_Missense_Mutation_p.S533I|BNC2_uc003zmq.1_Missense_Mutation_p.S589I|BNC2_uc003zmr.1_Missense_Mutation_p.S612I|BNC2_uc003zmp.1_Missense_Mutation_p.S603I|BNC2_uc010mij.1_Missense_Mutation_p.S497I|BNC2_uc011lmv.1_Missense_Mutation_p.S401I|BNC2_uc003zmo.1_Missense_Mutation_p.S497I|BNC2_uc003zmj.2_Missense_Mutation_p.S340I|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S340I|BNC2_uc003zmn.1_Missense_Mutation_p.S340I	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	575	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		AGTGAGTAAACTTCTATAAAA	0.522000												
LINGO2	158038	broad.mit.edu	37	9	27950590	27950590	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr9:27950590C>A	uc003zqu.1	-	2	274	c.80G>T	c.(79-81)GGC>GTC	p.G27V	LINGO2_uc010mjf.1_Missense_Mutation_p.G27V|LINGO2_uc003zqv.1_Missense_Mutation_p.G27V	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	27						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGCGGGGCAGCCAATGGTGGA	0.527000												
C9orf135	138255	broad.mit.edu	37	9	72435945	72435945	+	Silent	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr9:72435945C>T	uc004ahl.2	+	1	215	c.150C>T	c.(148-150)TCC>TCT	p.S50S	C9orf135_uc011lrw.1_5'UTR|C9orf135_uc010moq.2_5'UTR|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_Silent_p.S50S|uc004ahk.2_5'Flank	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	hypothetical protein LOC138255	50	Extracellular (Potential).					integral to membrane				ovary(1)	1						TGGTGTATTCCTGGTGAGCGA	0.418000												
OR1J2	26740	broad.mit.edu	37	9	125273810	125273810	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr9:125273810C>A	uc004bmj.1	+	4	1585	c.730C>A	c.(730-732)CAT>AAT	p.H244N	OR1J2_uc011lyv.1_Missense_Mutation_p.H244N	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|pancreas(1)|breast(1)	5						ATGTGGCTCCCATCTCTCTGT	0.468000												
KIAA1210	57481	broad.mit.edu	37	X	118220735	118220735	+	Silent	SNP	C	C	T			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chrX:118220735C>T	uc004era.3	-	11	4458	c.4458G>A	c.(4456-4458)TCG>TCA	p.S1486S		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1486										ovary(4)|skin(1)	5						TATACTTCTGCGAGGGAGGGG	0.448000												
ATXN7	6314	broad.mit.edu	37	3	63981543	63981551	+	In_Frame_Del	DEL	CCAAGGAGT	CCAAGGAGT	-			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr3:63981542_63981550CCCAAGGAGT>C	uc003dlv.3	+	11	2597_2605	c.2044_2052CCCAAGGAGT>C	c.(2044-2052)cccaaggag>C	p.PKE682del	ATXN7_uc003dlw.4_In_Frame_Del_p.PKE682del|ATXN7_uc021wzy.1_In_Frame_Del_p.PKE682del|ATXN7_uc011bfn.2_In_Frame_Del_p.PKE537del	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	682	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ATCTTTGAGGCCCAAGGAGTCTTCTGGTA	0.502												
DOCK8	81704	broad.mit.edu	37	9	420473	420474	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr9:420472_420473G>GA	uc003zgf.2	+	30	4024_4025	c.3912_3913G>GA	c.(3910-3915)atgaaafs	p.M1304fs	DOCK8_uc022bcu.1_Frame_Shift_Ins_p.M1236fs|DOCK8_uc010mgv.3_Frame_Shift_Ins_p.M1204fs|DOCK8_uc010mgu.3_Frame_Shift_Ins_p.M606fs|DOCK8_uc003zgk.2_Frame_Shift_Ins_p.M762fs	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1304	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCTGGATCATGAAAAATGCTGA	0.470												
TNKS1BP1	85456	broad.mit.edu	37	11	57087864	57087864	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:57087863_57087863CT>C	uc001njr.3	-	1	730	c.418_418AG>G	c.(418-420)gggfs	p.G140fs	TNKS1BP1_uc001njs.3_Frame_Shift_Del_p.G140fs|TNKS1BP1_uc009ymd.1_5'UTR	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	140	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CGTACACCCCCTGGGGCTGCA	0.652												
OR8B4	283162	broad.mit.edu	37	11	124294266	124294268	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr11:124294265_124294267CAGA>C	uc010sak.2	-	0	501_503	c.501_503TCTG>G	c.(499-504)ttctgt>ttGt	p.167_168FC>L		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTTGGAATCACAGAAGGTCAGTC	0.522												
SMAD4	4089	broad.mit.edu	37	18	48593406	48593407	+	Frame_Shift_Ins	INS	-	-	GT	rs121912580		TCGA-BR-8370-01A-11D-2340-08	TCGA-BR-8370-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb	0d5b7d4e-a500-4ba9-8a39-ea210a62e28a	g.chr18:48593405_48593406G>GGT	uc010xdp.2	+	9	1694_1695	c.1156_1157G>GGT	c.(1156-1158)ggtfs	p.G386fs	SMAD4_uc002lfb.4_Frame_Shift_Ins_p.G231fs	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	386	MH2.		G -> D (in JP/HHT; dbSNP:rs28936393).		BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.G386R(10)|p.G386C(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CATAGGCAAAGGTGTGCAGTTG	0.366												
