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
MPL	4352	broad.mit.edu	37	1	43817973	43817973	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:43817973C>T	uc001ciw.2	+	11	1697	c.1652C>T	c.(1651-1653)CCG>CTG	p.P551L	MPL_uc009vwr.2_Missense_Mutation_p.P544L	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	551	Cytoplasmic (Potential).				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCTGAGCCCGGTGAGTGTG	0.607000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia					
C1orf175	374977	broad.mit.edu	37	1	55119744	55119744	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:55119744G>C	uc010ooe.1	+	3	1469	c.1145G>C	c.(1144-1146)AGC>ACC	p.S382T	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Missense_Mutation_p.S382T|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.S382T|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	382						integral to membrane	binding				0						GAGATGGCCAGCATTAAGGTG	0.602000												
DNAJC6	9829	broad.mit.edu	37	1	65855119	65855119	+	Silent	SNP	G	G	A	rs148673423		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:65855119G>A	uc001dcd.1	+	10	1367	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T	DNAJC6_uc001dcc.1_Silent_p.T432T|DNAJC6_uc010opc.1_Silent_p.T388T|DNAJC6_uc001dce.1_Silent_p.T458T	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	401					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						ATCAAGATACGCTGGCCTTAG	0.413000												
SH3GLB1	51100	broad.mit.edu	37	1	87188235	87188235	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:87188235T>G	uc001dlw.2	+	4	682	c.356T>G	c.(355-357)ATT>AGT	p.I119S	SH3GLB1_uc001dlx.2_Missense_Mutation_p.I119S|SH3GLB1_uc001dly.2_Missense_Mutation_p.I119S|SH3GLB1_uc001dlz.2_Missense_Mutation_p.I19S	NM_016009	NP_057093	Q9Y371	SHLB1_HUMAN	SH3-containing protein SH3GLB1	119	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding				0		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		AATGCCCTTATTAAATGTGGA	0.308000												
ABCA4	24	broad.mit.edu	37	1	94568687	94568687	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:94568687G>A	uc001dqh.2	-	5	558	c.454C>T	c.(454-456)CGA>TGA	p.R152*	ABCA4_uc010otn.1_Nonsense_Mutation_p.R152*	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	152	Extracellular.		R -> Q.		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCCTTATTCGTATTCCTCTT	0.393000												
SLC6A17	388662	broad.mit.edu	37	1	110716597	110716597	+	Silent	SNP	C	C	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:110716597C>A	uc009wfq.2	+	4	908	c.447C>A	c.(445-447)GTC>GTA	p.V149V		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	149	Helical; Name=3; (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTCCCCAGGTCTGTCTCTTTG	0.587000												
SLC16A4	9122	broad.mit.edu	37	1	110925481	110925481	+	Silent	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:110925481G>A	uc001dzo.1	-	3	377	c.195C>T	c.(193-195)ATC>ATT	p.I65I	SLC16A4_uc009wfs.1_Silent_p.I65I|SLC16A4_uc001dzp.1_Silent_p.I65I|SLC16A4_uc010ovy.1_Intron|SLC16A4_uc001dzq.1_Intron|SLC16A4_uc010ovz.1_Intron	NM_004696	NP_004687	O15374	MOT5_HUMAN	solute carrier family 16, member 4	65	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			ovary(3)	3		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GAGATGACATGATGGATCCAA	0.413000												
HIPK1	204851	broad.mit.edu	37	1	114484035	114484035	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:114484035G>A	uc001eem.2	+	2	1191	c.1030G>A	c.(1030-1032)GTT>ATT	p.V344I	HIPK1_uc001eel.2_Missense_Mutation_p.V344I|HIPK1_uc001een.2_Missense_Mutation_p.V344I	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	344	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCTAGTCACGTTTCCAAAGC	0.458000												
HAO2	51179	broad.mit.edu	37	1	119927488	119927488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:119927488C>T	uc001ehq.1	+	5	725	c.373C>T	c.(373-375)CGA>TGA	p.R125*	HAO2_uc001ehr.1_Nonsense_Mutation_p.R125*	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2	125	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(2)|skin(2)	4	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CGAAGGCCTCCGATGGTTCCA	0.488000												
TCHH	7062	broad.mit.edu	37	1	152081617	152081617	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:152081617T>C	uc001ezp.2	-	2	4076	c.4076A>G	c.(4075-4077)GAC>GGC	p.D1359G	TCHH_uc009wne.1_Missense_Mutation_p.D1359G	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1359	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATTTTCTGTCACGCTCTTG	0.567000												
S100A13	6284	broad.mit.edu	37	1	153598898	153598898	+	Silent	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:153598898G>A	uc001fcf.3	-	2	210	c.51C>T	c.(49-51)GTC>GTT	p.V17V	S100A13_uc001fcg.2_Silent_p.V17V|S100A13_uc009woh.2_Silent_p.V17V|S100A13_uc001fch.2_Silent_p.V17V|S100A13_uc001fci.2_Silent_p.V17V|S100A13_uc001fcj.2_Silent_p.V17V|S100A1_uc001fck.1_5'Flank|S100A1_uc001fcl.1_5'Flank	NM_001024213	NP_001019384	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	17					interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	AGAAGGTGGTGACCACGGTCT	0.557000												
PVRL4	81607	broad.mit.edu	37	1	161044471	161044471	+	Silent	SNP	G	G	A	rs147409977	byFrequency	TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:161044471G>A	uc001fxo.2	-	5	1229	c.930C>T	c.(928-930)AGC>AGT	p.S310S	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Silent_p.S44S	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	310	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CGTAGATGCCGCTGTGCTCAG	0.557000												
TOR1AIP2	163590	broad.mit.edu	37	1	179815828	179815828	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:179815828T>A	uc001gnk.2	-	6	1179	c.791A>T	c.(790-792)GAT>GTT	p.D264V	TOR1AIP2_uc001gnl.2_Missense_Mutation_p.D264V	NM_145034	NP_659471	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	264						endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1						TGGAAATTTATCTTCCAATTG	0.502000												
KCNH1	3756	broad.mit.edu	37	1	210857160	210857160	+	Silent	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:210857160G>A	uc001hib.2	-	11	2603	c.2433C>T	c.(2431-2433)CAC>CAT	p.H811H	KCNH1_uc001hic.2_Silent_p.H784H	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	811	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTAGCTTTGCGTGGTCTGGCA	0.672000												
PROX1	5629	broad.mit.edu	37	1	214170542	214170542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:214170542C>T	uc001hkh.2	+	2	936	c.664C>T	c.(664-666)CAG>TAG	p.Q222*	PROX1_uc001hkg.1_Nonsense_Mutation_p.Q222*	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	222					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		ACAGAGTTTCCAGCAGCTGGT	0.537000												
TRIM67	440730	broad.mit.edu	37	1	231335945	231335945	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:231335945G>A	uc009xfn.1	+	4	1357	c.1315G>A	c.(1315-1317)GGA>AGA	p.G439R		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	439						cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TCAGTCCACCGGACTGATGGA	0.517000												
OR2C3	81472	broad.mit.edu	37	1	247695143	247695143	+	Missense_Mutation	SNP	C	C	T	rs146068024	byFrequency	TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:247695143C>T	uc009xgy.2	-	2	1033	c.671G>A	c.(670-672)CGG>CAG	p.R224Q	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAACACGGCCCGGGCAATGTG	0.547000												
OR2L8	391190	broad.mit.edu	37	1	248112179	248112179	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:248112179C>A	uc001idt.1	+	1	20	c.20C>A	c.(19-21)ACA>AAA	p.T7K	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TACAATCAAACATCAACTGAT	0.313000												
OR2M5	127059	broad.mit.edu	37	1	248308649	248308649	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:248308649T>C	uc010pze.1	+	1	200	c.200T>C	c.(199-201)TTC>TCC	p.F67S		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AGTCAACTGTTCCTCATGGAC	0.507000												
ASB13	79754	broad.mit.edu	37	10	5693205	5693205	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr10:5693205G>A	uc001iig.2	-	3	397	c.353C>T	c.(352-354)GCG>GTG	p.A118V	ASB13_uc001iii.2_Intron|ASB13_uc001iih.2_RNA|ASB13_uc009xic.2_Missense_Mutation_p.A118V	NM_024701	NP_078977	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box-containing protein	118	ANK 4.				intracellular signal transduction		protein binding			ovary(1)	1				GBM - Glioblastoma multiforme(2;9.59e-09)		CAGGGGGGACGCTGTGTACAG	0.642000												
FBXO18	84893	broad.mit.edu	37	10	5956183	5956183	+	Silent	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr10:5956183G>A	uc001iis.2	+	8	1442	c.1347G>A	c.(1345-1347)CTG>CTA	p.L449L	FBXO18_uc001iir.2_Silent_p.L375L|FBXO18_uc009xig.2_Silent_p.L375L|FBXO18_uc001iit.2_Silent_p.L500L	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	449					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						AGCTGATTCTGAATCACAAGA	0.433000												
ANKRD30A	91074	broad.mit.edu	37	10	37490214	37490214	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr10:37490214C>A	uc001iza.1	+	31	2761	c.2662C>A	c.(2662-2664)CAT>AAT	p.H888N		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	944						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						CAAGGCTACACATCAAAAAGA	0.308000												
ZNF33A	7581	broad.mit.edu	37	10	38344156	38344156	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr10:38344156T>G	uc001izh.2	+	5	1279	c.1101T>G	c.(1099-1101)GAT>GAG	p.D367E	ZNF33A_uc001izg.2_Missense_Mutation_p.D368E|ZNF33A_uc010qev.1_Missense_Mutation_p.D374E|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	367	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						CTTTCTGGGATAAGTCAAACC	0.433000												
ZNF33A	7581	broad.mit.edu	37	10	38344180	38344180	+	Silent	SNP	A	A	G			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr10:38344180A>G	uc001izh.2	+	5	1303	c.1125A>G	c.(1123-1125)CAA>CAG	p.Q375Q	ZNF33A_uc001izg.2_Silent_p.Q376Q|ZNF33A_uc010qev.1_Silent_p.Q382Q|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	375	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						CTAAACATCAAAGATCACACA	0.433000												
KNDC1	85442	broad.mit.edu	37	10	135013926	135013926	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr10:135013926G>A	uc001llz.1	+	16	2952	c.2951G>A	c.(2950-2952)CGC>CAC	p.R984H	KNDC1_uc001lma.1_Missense_Mutation_p.R919H|KNDC1_uc001lmb.1_Missense_Mutation_p.R396H	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	984					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAAGCCCCCGCTCCCCGTCC	0.706000												
OR51B5	282763	broad.mit.edu	37	11	5364235	5364235	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:5364235G>T	uc001map.1	-	1	520	c.520C>A	c.(520-522)CAT>AAT	p.H174N	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.H174N	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAATGCATGTGAAAGAACA	0.463000												
SBF2	81846	broad.mit.edu	37	11	9801995	9801995	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:9801995G>T	uc001mib.2	-	40	5658	c.5520C>A	c.(5518-5520)GAC>GAA	p.D1840E	uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.D484E|SBF2_uc001mic.2_Missense_Mutation_p.D130E|uc001mie.3_RNA	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1840	PH.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCTGGATCTTGTCCATCCATT	0.473000												
PTPN5	84867	broad.mit.edu	37	11	18754846	18754846	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:18754846C>T	uc001mpd.2	-	11	1585	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H	PTPN5_uc001mpb.2_Missense_Mutation_p.R353H|PTPN5_uc001mpc.2_Missense_Mutation_p.R385H|PTPN5_uc001mpe.2_Missense_Mutation_p.R353H|PTPN5_uc010rdj.1_Missense_Mutation_p.R329H|PTPN5_uc001mpf.2_Missense_Mutation_p.R361H|PTPN5_uc010rdk.1_Missense_Mutation_p.R330H	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	385	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2						CCACACCATGCGCCAGAAGTC	0.597000												
CKAP5	9793	broad.mit.edu	37	11	46774874	46774874	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:46774874C>G	uc001ndi.1	-	37	5153	c.5043G>C	c.(5041-5043)CAG>CAC	p.Q1681H	CKAP5_uc009ylg.1_Missense_Mutation_p.Q1567H|CKAP5_uc001ndj.1_Missense_Mutation_p.Q1621H|CKAP5_uc001ndh.1_Missense_Mutation_p.Q610H	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	1681					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						GGATGTTGGTCTGGTCTGACT	0.468000												
OR4A16	81327	broad.mit.edu	37	11	55111534	55111534	+	Silent	SNP	G	G	A	rs77217348		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:55111534G>A	uc010rie.1	+	1	858	c.858G>A	c.(856-858)TCG>TCA	p.S286S		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						TAATATACTCGTTGAGACAAT	0.303000												
OR4C11	219429	broad.mit.edu	37	11	55371590	55371590	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:55371590T>C	uc010rii.1	-	1	260	c.260A>G	c.(259-261)AAG>AGG	p.K87R		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TATAATTTTCTTTTCAGAGAG	0.398000												
OR5R1	219479	broad.mit.edu	37	11	56185309	56185309	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:56185309T>G	uc010rji.1	-	1	400	c.400A>C	c.(400-402)ACA>CCA	p.T134P		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	134	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GACATCAGTGTTGAATAATGC	0.468000												
OR9G4	283189	broad.mit.edu	37	11	56510658	56510658	+	Silent	SNP	G	G	A	rs149148369		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:56510658G>A	uc010rjo.1	-	1	630	c.630C>T	c.(628-630)TAC>TAT	p.Y210Y		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	210	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GGACTTTTTCGTAGACCCTGG	0.438000												
ANKRD42	338699	broad.mit.edu	37	11	82935914	82935914	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:82935914G>T	uc001ozz.1	+	6	942	c.520G>T	c.(520-522)GAA>TAA	p.E174*	ANKRD42_uc010rsv.1_Nonsense_Mutation_p.E202*|ANKRD42_uc001paa.2_Nonsense_Mutation_p.E202*|ANKRD42_uc001pab.1_Nonsense_Mutation_p.E201*	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	174	ANK 5.									skin(1)	1						AGCAGCCATGGAAGGCCACCT	0.284000												
GPR83	10888	broad.mit.edu	37	11	94134339	94134339	+	Silent	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:94134339G>A	uc001pet.2	-	1	247	c.75C>T	c.(73-75)GAC>GAT	p.D25D		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	25	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CGCTCTGCTCGTCGGCCCGGC	0.652000												
DDI1	414301	broad.mit.edu	37	11	103907697	103907697	+	Silent	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:103907697C>T	uc001phr.2	+	1	390	c.147C>T	c.(145-147)CAC>CAT	p.H49H	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	49	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AGATCATCCACATGGAGCGAC	0.562000												
NFRKB	4798	broad.mit.edu	37	11	129758493	129758493	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr11:129758493G>T	uc001qfi.2	-	4	534	c.333C>A	c.(331-333)TTC>TTA	p.F111L	NFRKB_uc001qfg.2_Missense_Mutation_p.F124L|NFRKB_uc001qfh.2_Missense_Mutation_p.F134L|NFRKB_uc010sbw.1_Missense_Mutation_p.F111L	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	111					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ACAAACCTCGGAAAAGCTTCT	0.463000												
WNT10B	7480	broad.mit.edu	37	12	49364277	49364277	+	Silent	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr12:49364277C>T	uc001rss.2	-	2	382	c.36G>A	c.(34-36)TCG>TCA	p.S12S	WNT10B_uc001rst.2_Silent_p.S12S	NM_003394	NP_003385	O00744	WN10B_HUMAN	wingless-type MMTV integration site family,	12					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			skin(4)|lung(3)	7						CCGCGAGGCCCGAGGGCGGAG	0.682000												
TPH2	121278	broad.mit.edu	37	12	72366481	72366481	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr12:72366481C>T	uc009zrw.1	+	6	932	c.791C>T	c.(790-792)TCC>TTC	p.S264F	TPH2_uc001swy.2_Missense_Mutation_p.S174F	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	264					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)	GAAGATGTCTCCATGTTTCTG	0.438000												
CIT	11113	broad.mit.edu	37	12	120150501	120150501	+	Splice_Site	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr12:120150501C>T	uc001txi.1	-	35	4507	c.4454_splice	c.e35-1	p.A1485_splice	CIT_uc001txh.1_Splice_Site_p.A1004_splice|CIT_uc001txj.1_Splice_Site_p.A1527_splice	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron						intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCTGTCCAGCTTGGTGCaaa	0.294000												
TMEM132D	121256	broad.mit.edu	37	12	129822189	129822189	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr12:129822189G>A	uc009zyl.1	-	4	1617	c.1289C>T	c.(1288-1290)CCG>CTG	p.P430L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	430	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)		CATAGCCAGCGGCACAACTCC	0.612000												
FREM2	341640	broad.mit.edu	37	13	39262163	39262163	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr13:39262163C>A	uc001uwv.2	+	1	991	c.682C>A	c.(682-684)CCT>ACT	p.P228T		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	228	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGGCGCGCTGCCTCGCTATGG	0.667000												
DCAF4	26094	broad.mit.edu	37	14	73425480	73425480	+	Silent	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr14:73425480C>T	uc001xng.2	+	14	1675	c.1455C>T	c.(1453-1455)GTC>GTT	p.V485V	DCAF4_uc001xnj.2_Silent_p.V479V|DCAF4_uc010ttr.1_Silent_p.V464V|DCAF4_uc001xnh.2_Silent_p.V385V|DCAF4_uc010tts.1_Silent_p.V425V|DCAF4_uc010ttt.1_Silent_p.V271V|DCAF4_uc001xni.2_Silent_p.V315V	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4 isoform 1	485						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)|skin(1)	3						TCATGGCTGTCGGGCAGGACC	0.607000												
ABCD4	5826	broad.mit.edu	37	14	74757026	74757026	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr14:74757026C>T	uc001xpr.2	-	12	1447	c.1295G>A	c.(1294-1296)CGG>CAG	p.R432Q	ABCD4_uc001xps.2_Missense_Mutation_p.R273Q|ABCD4_uc001xpt.2_Missense_Mutation_p.R273Q|ABCD4_uc010tur.1_Missense_Mutation_p.R328Q|ABCD4_uc001xpu.2_Missense_Mutation_p.R169Q	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	432	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00153)		ACCCAGAACCCGGAGCAAGGA	0.632000											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NEK9	91754	broad.mit.edu	37	14	75573236	75573236	+	Silent	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr14:75573236C>T	uc001xrl.2	-	12	1651	c.1497G>A	c.(1495-1497)AAG>AAA	p.K499K	NEK9_uc001xrk.2_5'UTR	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	499	RCC1 3.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(2)|stomach(2)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AATAGACTTCCTTGTTTCGTG	0.478000												
KIAA1409	57578	broad.mit.edu	37	14	94088869	94088869	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr14:94088869C>T	uc001ybv.1	+	28	4908	c.4825C>T	c.(4825-4827)CAC>TAC	p.H1609Y	KIAA1409_uc001ybs.1_Missense_Mutation_p.H1587Y	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1764						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GCTGGATGATCACCCTGACCC	0.582000												
TJP1	7082	broad.mit.edu	37	15	30011254	30011254	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr15:30011254G>T	uc001zcr.2	-	21	3567	c.3092C>A	c.(3091-3093)CCA>CAA	p.P1031Q	TJP1_uc010azl.2_Missense_Mutation_p.P1019Q|TJP1_uc001zcq.2_Missense_Mutation_p.P955Q|TJP1_uc001zcs.2_Missense_Mutation_p.P951Q	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1031					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTCTTTGTCTGGCCTGTGCCC	0.483000												
DUOX1	53905	broad.mit.edu	37	15	45433197	45433197	+	Silent	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr15:45433197C>T	uc001zus.1	+	14	1840	c.1494C>T	c.(1492-1494)AGC>AGT	p.S498S	DUOX1_uc001zut.1_Silent_p.S498S|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	498	Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTCTGTTCAGCACCATCGTCC	0.607000												
SALL1	6299	broad.mit.edu	37	16	51173642	51173642	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr16:51173642C>T	uc010vgs.1	-	2	2522	c.2491G>A	c.(2491-2493)GAC>AAC	p.D831N	SALL1_uc010vgr.1_Missense_Mutation_p.D734N|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	831					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCAGGACAGTCTTCCATGTTT	0.502000												
POLR2C	5432	broad.mit.edu	37	16	57503205	57503205	+	Silent	SNP	G	G	A	rs141472105	byFrequency	TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr16:57503205G>A	uc002elt.1	+	5	473	c.387G>A	c.(385-387)CCG>CCA	p.P129P	POLR2C_uc010vhq.1_Silent_p.P129P	NM_032940	NP_116558	P19387	RPB3_HUMAN	DNA directed RNA polymerase II polypeptide C	129					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0						GGGTCATTCCGGTCAGTGCGG	0.562000												
ZNF594	84622	broad.mit.edu	37	17	5085395	5085395	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:5085395C>T	uc010cla.1	-	2	2313	c.2157G>A	c.(2155-2157)TGG>TGA	p.W719*		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	719	C2H2-type 22.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						AAGCCGTGTGCCACATGAAGA	0.463000												
MYH8	4626	broad.mit.edu	37	17	10300223	10300223	+	Missense_Mutation	SNP	G	G	A	rs150344258		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:10300223G>A	uc002gmm.2	-	31	4354	c.4259C>T	c.(4258-4260)ACG>ATG	p.T1420M	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1420	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						CCGCTGCTTCGTCTTCTCAAG	0.493000									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling			
MYH2	4620	broad.mit.edu	37	17	10427134	10427134	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:10427134T>C	uc010coi.2	-	36	5371	c.5243A>G	c.(5242-5244)GAG>GGG	p.E1748G	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1748G|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1748	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GAGAATGTCCTCCATCTCTCC	0.428000												
MYOCD	93649	broad.mit.edu	37	17	12656558	12656558	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:12656558G>T	uc002gnn.2	+	10	2252	c.1953G>T	c.(1951-1953)TTG>TTT	p.L651F	MYOCD_uc002gno.2_Missense_Mutation_p.L651F|MYOCD_uc002gnp.1_Missense_Mutation_p.L555F|MYOCD_uc002gnq.2_Missense_Mutation_p.L370F	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	651					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACATCAGTTTGCCCCCATCAC	0.582000												
EPN2	22905	broad.mit.edu	37	17	19235245	19235245	+	Silent	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:19235245C>T	uc002gvd.3	+	10	1939	c.1491C>T	c.(1489-1491)GTC>GTT	p.V497V	EPN2_uc010cql.1_Silent_p.V206V|EPN2_uc002gve.3_Silent_p.V440V|EPN2_uc002gvf.3_Silent_p.V212V|EPN2_uc010vyo.1_Silent_p.V205V|EPN2_uc010vyp.1_Silent_p.V433V|EPN2_uc010vyq.1_Silent_p.V434V|EPN2_uc002gvh.1_Intron|EPN2_uc002gvj.3_Silent_p.V160V	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	497	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCCTGACTGTCGCCTCAAGCA	0.582000												
ACACA	31	broad.mit.edu	37	17	35545362	35545362	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:35545362C>T	uc002hnm.2	-	39	4711	c.4520G>A	c.(4519-4521)CGC>CAC	p.R1507H	ACACA_uc002hnk.2_Missense_Mutation_p.R1429H|ACACA_uc002hnl.2_Missense_Mutation_p.R1449H|ACACA_uc002hnn.2_Missense_Mutation_p.R1507H|ACACA_uc002hno.2_Missense_Mutation_p.R1544H|ACACA_uc010cuy.2_Missense_Mutation_p.R201H	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1507					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGGAGGACGCGCAATTTCCA	0.483000												
SLC39A11	201266	broad.mit.edu	37	17	70943979	70943979	+	Silent	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:70943979C>T	uc002jjb.2	-	5	457	c.342G>A	c.(340-342)CTG>CTA	p.L114L	SLC39A11_uc002jja.2_Silent_p.L114L|SLC39A11_uc002jjc.1_Silent_p.L114L	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	114					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						AGCCGAAGTTCAGTGCCAGGG	0.537000												
USH1G	124590	broad.mit.edu	37	17	72916569	72916569	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:72916569G>A	uc002jme.1	-	2	545	c.362C>T	c.(361-363)GCG>GTG	p.A121V	USH1G_uc010wro.1_Missense_Mutation_p.A18V	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Usher syndrome 1G protein	121	ANK 3.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton				skin(2)	2	all_lung(278;0.172)|Lung NSC(278;0.207)					CTGCTTGGCCGCGATGGAGTC	0.637000												
EXOC7	23265	broad.mit.edu	37	17	74087260	74087260	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:74087260C>T	uc002jqs.2	-	7	960	c.865G>A	c.(865-867)GGG>AGG	p.G289R	EXOC7_uc010dgv.1_Missense_Mutation_p.G236R|EXOC7_uc002jqq.2_Missense_Mutation_p.G289R|EXOC7_uc010wsw.1_Missense_Mutation_p.G289R|EXOC7_uc010wsx.1_Intron|EXOC7_uc002jqr.2_Intron|EXOC7_uc010wsv.1_Missense_Mutation_p.G248R	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	289					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			CCCTTTTTCCCATCTAGACCA	0.532000												
ENPP7	339221	broad.mit.edu	37	17	77709072	77709072	+	Silent	SNP	G	G	A	rs146147882		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr17:77709072G>A	uc002jxa.2	+	3	650	c.630G>A	c.(628-630)CCG>CCA	p.P210P		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	210					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCGAGTCCCCGGAGAGGAGGG	0.647000												
EVI5L	115704	broad.mit.edu	37	19	7911558	7911558	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:7911558C>A	uc002min.2	+	2	284	c.130C>A	c.(130-132)CAG>AAG	p.Q44K	EVI5L_uc010xjz.1_Missense_Mutation_p.Q44K	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	44						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						GCTCGAAGAGCAGAACCGGTG	0.652000												
PRAM1	84106	broad.mit.edu	37	19	8555622	8555622	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:8555622C>T	uc002mkd.2	-	7	1782	c.1762G>A	c.(1762-1764)GTT>ATT	p.V588I	PRAM1_uc002mkc.2_Missense_Mutation_p.V587I	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	636	SH3.						lipid binding|protein binding				0						TTCGTGTGAACCACGATCTCC	0.617000												
KIRREL2	84063	broad.mit.edu	37	19	36351817	36351817	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:36351817C>T	uc002ocb.3	+	8	1147	c.935C>T	c.(934-936)CCG>CTG	p.P312L	KIRREL2_uc002obz.3_Missense_Mutation_p.P312L|KIRREL2_uc002oca.3_Missense_Mutation_p.P262L|KIRREL2_uc002occ.3_Missense_Mutation_p.P259L|KIRREL2_uc002ocd.3_Missense_Mutation_p.P309L	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	312	Extracellular (Potential).|Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGTTGGGCCGATTCTGCAG	0.647000												
ZNF420	147923	broad.mit.edu	37	19	37619007	37619007	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:37619007T>C	uc002ofl.2	+	5	1329	c.1114T>C	c.(1114-1116)TTT>CTT	p.F372L		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	372	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGGAAGGCCTTTATCCGTGG	0.433000												
IL28B	282617	broad.mit.edu	37	19	39734787	39734787	+	Missense_Mutation	SNP	C	C	T	rs144570763		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:39734787C>T	uc010xut.1	-	3	273	c.269G>A	c.(268-270)CGC>CAC	p.R90H	IL28B_uc010xuu.1_Missense_Mutation_p.R90H	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	90					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGCCACGGGGCGCTCCCTCAC	0.378000												
ARHGEF1	9138	broad.mit.edu	37	19	42396407	42396407	+	Silent	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:42396407C>T	uc002orx.2	+	6	439	c.330C>T	c.(328-330)CTC>CTT	p.L110L	ARHGEF1_uc002orw.1_Silent_p.L110L|ARHGEF1_uc002ory.2_Silent_p.L77L|ARHGEF1_uc002orz.2_5'UTR|ARHGEF1_uc002osa.2_Silent_p.L125L|ARHGEF1_uc002osb.2_Silent_p.L92L	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	110	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGCAGGTTCTCCGGGTGCCGG	0.607000												
PNMAL1	55228	broad.mit.edu	37	19	46973369	46973369	+	Silent	SNP	C	C	T	rs112515812		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:46973369C>T	uc002peq.3	-	2	1230	c.924G>A	c.(922-924)GCG>GCA	p.A308A	PNMAL1_uc002per.3_Silent_p.A308A	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	308											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AGGCACATTTCGCCATGGGCT	0.587000												
PIH1D1	55011	broad.mit.edu	37	19	49954783	49954783	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:49954783T>C	uc002pns.2	-	1	333	c.49A>G	c.(49-51)ATC>GTC	p.I17V	PIH1D1_uc010yap.1_Missense_Mutation_p.I17V|PIH1D1_uc010yaq.1_Missense_Mutation_p.I17V|ALDH16A1_uc002pnt.2_5'Flank|ALDH16A1_uc010yar.1_5'Flank|ALDH16A1_uc010yas.1_5'Flank|ALDH16A1_uc010yat.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	17					box C/D snoRNP assembly	pre-snoRNP complex					0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		TCAGCACCGATCGCCTCCGCC	0.602000												
ZNF549	256051	broad.mit.edu	37	19	58049391	58049391	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr19:58049391C>T	uc002qpb.1	+	4	1268	c.1019C>T	c.(1018-1020)TCA>TTA	p.S340L	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.S327L	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	340	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGGGAAATCATTCCGCCAC	0.428000												
TTC31	64427	broad.mit.edu	37	2	74719180	74719180	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr2:74719180C>A	uc002slt.2	+	9	949	c.926C>A	c.(925-927)GCA>GAA	p.A309E	TTC31_uc002sls.2_3'UTR|TTC31_uc010yrv.1_Intron|TTC31_uc002slu.2_Missense_Mutation_p.A163E	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	309	TPR 1.						binding				0						CAGGAACTGGCAAGTGAGATC	0.577000												
ATOH8	84913	broad.mit.edu	37	2	85981537	85981537	+	Silent	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr2:85981537G>A	uc002sqn.2	+	1	629	c.225G>A	c.(223-225)CCG>CCA	p.P75P	ATOH8_uc002sqm.3_Silent_p.P75P	NM_032827	NP_116216	Q96SQ7	ATOH8_HUMAN	atonal homolog 8	75	Pro-rich.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						TACCGGTGCCGGTGCCAGTCC	0.751000												
NPAS2	4862	broad.mit.edu	37	2	101606898	101606898	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr2:101606898C>T	uc002tap.1	+	18	2294	c.2008C>T	c.(2008-2010)CGG>TGG	p.R670W	NPAS2_uc010yvt.1_Missense_Mutation_p.R735W|NPAS2_uc010fit.1_Intron	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	670					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						CAGCCATGATCGGCAGCTCAG	0.557000												
GALNT13	114805	broad.mit.edu	37	2	155099285	155099285	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr2:155099285C>T	uc002tyr.3	+	6	1120	c.553C>T	c.(553-555)CGC>TGC	p.R185C	GALNT13_uc002tyt.3_Missense_Mutation_p.R185C|GALNT13_uc010foc.1_Missense_Mutation_p.R4C	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	185	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						GATGGAAGAACGCTCTGGGTT	0.388000												
PIKFYVE	200576	broad.mit.edu	37	2	209190439	209190439	+	Silent	SNP	T	T	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr2:209190439T>A	uc002vcz.2	+	20	3062	c.2904T>A	c.(2902-2904)CCT>CCA	p.P968P	PIKFYVE_uc010fun.1_Silent_p.P649P|PIKFYVE_uc002vcy.1_Silent_p.P912P	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	968					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						CGGGTCTCCCTTGTGCTTTCT	0.502000												
C20orf54	113278	broad.mit.edu	37	20	741724	741724	+	Silent	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr20:741724G>A	uc002wed.3	-	5	1695	c.1356C>T	c.(1354-1356)AAC>AAT	p.N452N	C20orf54_uc002wee.2_3'UTR	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	hypothetical protein LOC113278 precursor	452	Helical; (Potential).				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity			ovary(2)	2						GCCGCAGCACGTTGACCAGAG	0.692000												
BFSP1	631	broad.mit.edu	37	20	17474983	17474983	+	Silent	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr20:17474983G>A	uc002wpo.2	-	8	1773	c.1734C>T	c.(1732-1734)CCC>CCT	p.P578P	BFSP1_uc002wpp.2_Silent_p.P453P|BFSP1_uc010zrn.1_Silent_p.P439P|BFSP1_uc010zro.1_Silent_p.P439P	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	578	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1						CCTCTGCACCGGGTGTGACCA	0.577000												
NCOA6	23054	broad.mit.edu	37	20	33329879	33329879	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr20:33329879C>T	uc002xav.2	-	12	6752	c.4181G>A	c.(4180-4182)AGT>AAT	p.S1394N	NCOA6_uc002xaw.2_Missense_Mutation_p.S1394N	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1394					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						ATTCAGCCCACTGTTGTTAGG	0.507000												
CHD6	84181	broad.mit.edu	37	20	40084476	40084476	+	Silent	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr20:40084476G>A	uc002xka.1	-	19	3151	c.2973C>T	c.(2971-2973)ACC>ACT	p.T991T	CHD6_uc002xkd.2_Silent_p.T969T	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	991					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CAGACTGGATGGTGATGGTGT	0.478000												
GRIK1	2897	broad.mit.edu	37	21	31062113	31062113	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr21:31062113G>T	uc002yno.1	-	3	943	c.479C>A	c.(478-480)GCG>GAG	p.A160E	GRIK1_uc002ynn.2_Missense_Mutation_p.A160E|GRIK1_uc011acs.1_Missense_Mutation_p.A160E|GRIK1_uc011act.1_Missense_Mutation_p.A104E|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Missense_Mutation_p.A160E	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	160	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	ATCCAGGATCGCCCTGCTGAT	0.483000												
KRTAP19-1	337882	broad.mit.edu	37	21	31852625	31852625	+	Silent	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr21:31852625G>A	uc011acx.1	-	1	12	c.12C>T	c.(10-12)TAC>TAT	p.Y4Y		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	4						intermediate filament					0						AGTAGCTGCCGTAGTGACTCA	0.547000												
YPEL1	29799	broad.mit.edu	37	22	22057675	22057675	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr22:22057675G>A	uc002zvl.2	-	4	586	c.254C>T	c.(253-255)ACG>ATG	p.T85M	YPEL1_uc002zvm.2_RNA	NM_013313	NP_037445	O60688	YPEL1_HUMAN	yippee-like 1	85						nucleus					0	Colorectal(54;0.105)					CCACCCGAGCGTGGTCTTGCA	0.632000												
CERK	64781	broad.mit.edu	37	22	47091193	47091193	+	Silent	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr22:47091193G>A	uc003bia.2	-	9	1070	c.963C>T	c.(961-963)TCC>TCT	p.S321S	CERK_uc010hae.2_Silent_p.S123S	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	321					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCAGTGGTGGGAGAGGAAGG	0.527000												
TYMP	1890	broad.mit.edu	37	22	50967595	50967595	+	Silent	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr22:50967595G>A	uc003bmb.3	-	2	507	c.387C>T	c.(385-387)CTC>CTT	p.L129L	TYMP_uc003bmc.3_Silent_p.L129L|TYMP_uc003bmd.3_Silent_p.L129L|TYMP_uc010hbd.2_Silent_p.L129L|TYMP_uc003bme.3_Silent_p.L129L|TYMP_uc003bmf.3_Silent_p.L129L|TYMP_uc011arz.1_Silent_p.L129L	NM_001113756	NP_001107228	P19971	TYPH_HUMAN	endothelial cell growth factor 1	129					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			ovary(1)	1		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	GGGCAGGTGCGAGGACCAGGC	0.622000												
WNT7A	7476	broad.mit.edu	37	3	13860757	13860757	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr3:13860757C>T	uc003bye.1	-	4	1039	c.734G>A	c.(733-735)CGC>CAC	p.R245H		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	245					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)|breast(1)	3						CCGCTTGTTGCGGCTGGCACG	0.592000												
KCNH8	131096	broad.mit.edu	37	3	19295169	19295169	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr3:19295169G>T	uc003cbk.1	+	2	295	c.100G>T	c.(100-102)GCC>TCC	p.A34S	KCNH8_uc011awe.1_Missense_Mutation_p.A34S|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	34	Cytoplasmic (Potential).|PAS.					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						CCTTGCCAATGCCCAGGTGGC	0.428000												
ACAD9	28976	broad.mit.edu	37	3	128598625	128598625	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr3:128598625C>T	uc003ela.3	+	1	293	c.91C>T	c.(91-93)CGC>TGC	p.R31C	ACAD9_uc010hsw.1_5'UTR|ACAD9_uc011bks.1_5'UTR|ACAD9_uc003elb.2_5'UTR	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	31						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3						GCGGCTACTGCGCACCAGCCC	0.652000												
PCCB	5096	broad.mit.edu	37	3	136035904	136035904	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr3:136035904C>T	uc003eqy.1	+	10	1139	c.1088C>T	c.(1087-1089)TCA>TTA	p.S363L	PCCB_uc003eqz.1_Missense_Mutation_p.S363L|PCCB_uc011bmc.1_Missense_Mutation_p.S383L|PCCB_uc011bmd.1_Missense_Mutation_p.S280L	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	363	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)	AAGGTGGCCTCAGGTAGGATG	0.468000												
ATR	545	broad.mit.edu	37	3	142275392	142275392	+	Silent	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr3:142275392C>T	uc003eux.3	-	9	2033	c.1911G>A	c.(1909-1911)GTG>GTA	p.V637V		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	637					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TCAGAAGAAACACACATCGTG	0.343000								Other_conserved_DNA_damage_response_genes				
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr3:178916876G>A	uc003fjk.2	+	2	420	c.263G>A	c.(262-264)CGA>CAA	p.R88Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(26)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAACAAGACGACTTTGTGAC	0.363000	R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
PCDH7	5099	broad.mit.edu	37	4	30724035	30724035	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr4:30724035C>T	uc003gsk.1	+	1	1999	c.991C>T	c.(991-993)CGC>TGC	p.R331C	PCDH7_uc011bxw.1_Missense_Mutation_p.R284C|PCDH7_uc011bxx.1_Missense_Mutation_p.R331C	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	331	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						CCTGCAACTGCGCGCAGCCGA	0.662000												
FAT4	79633	broad.mit.edu	37	4	126411905	126411905	+	Missense_Mutation	SNP	G	G	A	rs147961375		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr4:126411905G>A	uc003ifj.3	+	17	13928	c.13928G>A	c.(13927-13929)CGC>CAC	p.R4643H	FAT4_uc011cgp.1_Missense_Mutation_p.R2884H|FAT4_uc003ifi.1_Missense_Mutation_p.R2120H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4643	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AAGCAGTTCCGCAGCCACACA	0.517000												
POU4F2	5458	broad.mit.edu	37	4	147561227	147561227	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr4:147561227C>T	uc003ikv.2	+	2	745	c.497C>T	c.(496-498)GCG>GTG	p.A166V		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	166					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)					CACCCTTCCGCGTTGGCGGGC	0.537000												
CTNND2	1501	broad.mit.edu	37	5	11111072	11111072	+	Silent	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr5:11111072C>T	uc003jfa.1	-	14	2506	c.2361G>A	c.(2359-2361)ACG>ACA	p.T787T	CTNND2_uc010itt.2_Silent_p.T696T|CTNND2_uc011cmy.1_Silent_p.T450T|CTNND2_uc011cmz.1_Silent_p.T354T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.T354T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	787					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						CCAGCTCGTCCGTGCCCATGT	0.547000												
DMXL1	1657	broad.mit.edu	37	5	118470009	118470009	+	Silent	SNP	A	A	G			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr5:118470009A>G	uc003ksd.2	+	13	2482	c.2301A>G	c.(2299-2301)GGA>GGG	p.G767G	DMXL1_uc010jcl.1_Silent_p.G767G	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	767										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCAGTGATGGACAATATCTGA	0.333000												
PCDHB9	56127	broad.mit.edu	37	5	140569054	140569054	+	Silent	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr5:140569054G>A	uc003liw.1	+	3	2163	c.2163G>A	c.(2161-2163)TCG>TCA	p.S721S	PCDHB10_uc003lix.2_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	721	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCGGCCTCGGTGGGTCGCT	0.662000												
TRIM41	90933	broad.mit.edu	37	5	180661295	180661295	+	Silent	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr5:180661295C>T	uc003mne.1	+	6	2107	c.1413C>T	c.(1411-1413)GCC>GCT	p.A471A	TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Silent_p.A471A|TRIM41_uc003mnf.1_RNA|TRIM41_uc003mng.1_Silent_p.A51A	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	471	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTCTCGGCCGACTGCTGCG	0.741000												
NOTCH4	4855	broad.mit.edu	37	6	32163554	32163554	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr6:32163554C>G	uc003obb.2	-	30	5811	c.5672G>C	c.(5671-5673)GGC>GCC	p.G1891A	GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Missense_Mutation_p.G551A|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1891	Cytoplasmic (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						ATAGGCCCCGCCCCCCCGCGC	0.711000												
TULP1	7287	broad.mit.edu	37	6	35477060	35477060	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr6:35477060C>T	uc003okv.3	-	8	760	c.748G>A	c.(748-750)GAA>AAA	p.E250K	TULP1_uc003okw.3_Missense_Mutation_p.E197K	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	250	Poly-Glu.				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						TCCTCCTCTTCTTCCTCCTTC	0.498000												
KIF6	221458	broad.mit.edu	37	6	39507959	39507959	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr6:39507959C>A	uc003oot.2	-	13	1560	c.1465G>T	c.(1465-1467)GCT>TCT	p.A489S	KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.A280S|KIF6_uc011dua.1_Missense_Mutation_p.A489S|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	489	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						GCCTCCTGAGCTTTCTTCTTT	0.423000												
GPR63	81491	broad.mit.edu	37	6	97246870	97246870	+	Silent	SNP	A	A	G			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr6:97246870A>G	uc010kcl.2	-	3	1216	c.738T>C	c.(736-738)ATT>ATC	p.I246I	GPR63_uc003pou.2_Silent_p.I246I	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	246	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AAATGAGAGAAATCAAAATCA	0.478000												
HIVEP2	3097	broad.mit.edu	37	6	143074616	143074616	+	Silent	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr6:143074616C>T	uc003qjd.2	-	10	7712	c.6969G>A	c.(6967-6969)GAG>GAA	p.E2323E		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	2323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTATATTTTCCTCCTGTTCCC	0.562000												
PLEKHG1	57480	broad.mit.edu	37	6	151130381	151130381	+	Silent	SNP	G	G	A	rs148074221		TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr6:151130381G>A	uc003qny.1	+	9	1365	c.1053G>A	c.(1051-1053)ACG>ACA	p.T351T	PLEKHG1_uc011eel.1_Silent_p.T391T|PLEKHG1_uc011eem.1_Silent_p.T410T|PLEKHG1_uc003qnz.2_Silent_p.T351T	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	351	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGCTCATCACGAAGAAGAGAG	0.557000												
ANKIB1	54467	broad.mit.edu	37	7	92027051	92027051	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:92027051G>A	uc003ulw.2	+	19	2786	c.2410G>A	c.(2410-2412)GGC>AGC	p.G804S	ANKIB1_uc010lew.1_Missense_Mutation_p.G73S	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	804							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCCAGAAGGCGGCAGCAGCAG	0.468000												
GNG11	2791	broad.mit.edu	37	7	93555472	93555472	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:93555472G>T	uc003und.2	+	2	600	c.166G>T	c.(166-168)GGA>TGA	p.G56*		NM_004126	NP_004117	P61952	GBG11_HUMAN	guanine nucleotide binding protein gamma 11	56					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			kidney(1)	1	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TCTAGTAAAGGGAATTCCAGA	0.338000												
AGFG2	3268	broad.mit.edu	37	7	100159886	100159886	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:100159886C>A	uc003uvf.2	+	7	1018	c.882C>A	c.(880-882)AGC>AGA	p.S294R	AGFG2_uc010lgy.2_Missense_Mutation_p.A156E	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	294					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						GCCCAGGGAGCAGCCAGGGGA	0.637000												
CBLL1	79872	broad.mit.edu	37	7	107399357	107399357	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:107399357C>T	uc003veq.2	+	6	1540	c.1210C>T	c.(1210-1212)CCA>TCA	p.P404S	CBLL1_uc011kme.1_Missense_Mutation_p.P283S|CBLL1_uc011kmf.1_Missense_Mutation_p.P403S	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Cas-Br-M (murine) ecotropic retroviral	404	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|skin(2)|lung(1)	5						TCATCCTCCTCCAGGACCTCC	0.522000												
LRRN3	54674	broad.mit.edu	37	7	110763825	110763825	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:110763825C>A	uc003vft.3	+	4	2043	c.997C>A	c.(997-999)CTC>ATC	p.L333I	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.L333I|LRRN3_uc003vfs.3_Missense_Mutation_p.L333I	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	333	Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATTTTTCAGACTCCCCAAGCT	0.438000												
PPP1R3A	5506	broad.mit.edu	37	7	113519400	113519400	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:113519400G>A	uc010ljy.1	-	4	1778	c.1747C>T	c.(1747-1749)CAT>TAT	p.H583Y		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	583					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						CTTGGTGAATGAGACACATCT	0.488000												
FOXP2	93986	broad.mit.edu	37	7	114299684	114299684	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:114299684A>C	uc003vhb.2	+	13	1977	c.1603A>C	c.(1603-1605)ACA>CCA	p.T535P	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.T560P|FOXP2_uc003vha.2_Missense_Mutation_p.T443P|FOXP2_uc011kmu.1_Missense_Mutation_p.T552P|FOXP2_uc011kmv.1_Missense_Mutation_p.T534P|FOXP2_uc010ljz.1_Missense_Mutation_p.T350P|FOXP2_uc003vhe.1_Missense_Mutation_p.T105P	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	535	Fork-head.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						CAGCTGGTTTACACGGACATT	0.343000												
OR2A14	135941	broad.mit.edu	37	7	143826573	143826573	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:143826573C>T	uc011kua.1	+	1	368	c.368C>T	c.(367-369)GCG>GTG	p.A123V		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					GATCGCTATGCGGACATCTGC	0.493000												
OR2A1	346528	broad.mit.edu	37	7	144015510	144015510	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr7:144015510C>T	uc011kud.1	+	1	275	c.275C>T	c.(274-276)ACG>ATG	p.T92M	OR2A9P_uc003wec.1_Intron	NM_001001802	NP_001001802	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.14)					GGCTGCATGACGCAGACCTTT	0.577000												
FAM135B	51059	broad.mit.edu	37	8	139164616	139164616	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr8:139164616C>T	uc003yuy.2	-	13	2273	c.2102G>A	c.(2101-2103)CGA>CAA	p.R701Q	FAM135B_uc003yux.2_Missense_Mutation_p.R602Q|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R263Q|FAM135B_uc003yvb.2_Missense_Mutation_p.R263Q	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	701										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGCCCTGCTTCGGGCCTCTGA	0.552000										HNSCC(54;0.14)		
TSNARE1	203062	broad.mit.edu	37	8	143425589	143425589	+	Silent	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr8:143425589G>A	uc003ywk.2	-	4	601	c.483C>T	c.(481-483)TAC>TAT	p.Y161Y	TSNARE1_uc011lju.1_Silent_p.Y161Y|TSNARE1_uc003ywj.2_Silent_p.Y161Y|TSNARE1_uc003ywl.3_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	161					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCACACGCGGTACCTGCGAG	0.662000												
DBC1	1620	broad.mit.edu	37	9	122011382	122011382	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr9:122011382C>T	uc004bkc.2	-	3	721	c.265G>A	c.(265-267)GAT>AAT	p.D89N	DBC1_uc004bkd.2_Missense_Mutation_p.D89N	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	89	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						CGGACCAGATCTCTCCTCTCG	0.542000												
FIGF	2277	broad.mit.edu	37	X	15381403	15381403	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chrX:15381403C>A	uc004cwt.1	-	2	638	c.129G>T	c.(127-129)CAG>CAT	p.Q43H		NM_004469	NP_004460	O43915	VEGFD_HUMAN	vascular endothelial growth factor D	43					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					CAGCCCTGATCTGCTGTTCAG	0.378000												
H2BFWT	158983	broad.mit.edu	37	X	103267818	103267818	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chrX:103267818G>A	uc004elr.2	-	1	439	c.415C>T	c.(415-417)CGG>TGG	p.R139W		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	139					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1						ACAGCCATCCGGGTCTCCCAG	0.642000												
IL1RAPL2	26280	broad.mit.edu	37	X	105011214	105011214	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chrX:105011214A>T	uc004elz.1	+	11	2377	c.1621A>T	c.(1621-1623)AGC>TGC	p.S541C		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	541	Cytoplasmic (Potential).|TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						GGGATCCAAAAGCAGCAAATT	0.408000												
DCAF12L2	340578	broad.mit.edu	37	X	125298874	125298874	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chrX:125298874C>A	uc004euk.1	-	1	1061	c.1034G>T	c.(1033-1035)TGC>TTC	p.C345F		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	345										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CTCTCGAGAGCACAGGGGCCG	0.617000												
MAGEA12	4111	broad.mit.edu	37	X	151900231	151900231	+	Silent	SNP	C	C	A			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chrX:151900231C>A	uc010ntp.2	-	3	924	c.570G>T	c.(568-570)CTG>CTT	p.L190L	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.L190L|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	190	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					GATTGTCGCCCAGCAGGCCAT	0.577000												
SRRM1	10250	broad.mit.edu	37	1	24981344	24981346	+	Splice_Site	DEL	AGA	AGA	-			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:24981343_24981345CAGA>C	uc001bjm.3	+	9	1265	c.1041_splice	c.e9-1	p.R347_splice	SRRM1_uc010oel.2_Splice_Site_p.R347_splice|SRRM1_uc009vrh.1_Splice_Site_p.R308_splice|SRRM1_uc009vri.1_Splice_Site_p.R264_splice|SRRM1_uc010oem.1_Splice_Site	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	347	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CTTTATTCCACAGAAGAAGACGT	0.419												
TM7SF3	51768	broad.mit.edu	37	12	27135767	27135767	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr12:27135767delG	uc010sjl.1	-	7	1132	c.894delC	c.(892-894)TTCfs	p.F298fs		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3 precursor	298	Phe-rich.|Helical; (Potential).					integral to membrane|plasma membrane				upper_aerodigestive_tract(2)	2	Colorectal(261;0.0847)					CAAAAAGAGTGAAGAACACTT	0.318												
LOC646498	646498	broad.mit.edu	37	3	49215093	49215093	+	Frame_Shift_Del	DEL	G	G	-	rs140986532	by1000genomes	TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr3:49215093delG	uc011bcj.1	-	3	597	c.591delC	c.(589-591)TCCfs	p.S197fs		NM_001080528	NP_001073997			hypothetical LOC646498												0				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.00221)|KIRC - Kidney renal clear cell carcinoma(197;0.00247)		TTAATGCTCTGGACCAGTTTA	0.562												
SEMA6A	57556	broad.mit.edu	37	5	115831175	115831175	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr5:115831175delC	uc010jck.2	-	6	1087	c.378delG	c.(376-378)AAGfs	p.K126fs	SEMA6A_uc003krx.3_Frame_Shift_Del_p.K126fs	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	126	Sema.|Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CATCGTTTTTCTTTAGAAGAA	0.368												
SRRM1	10250	broad.mit.edu	37	1	24981344	24981346	+	Splice_Site	DEL	AGA	AGA	-			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:24981343_24981345CAGA>C	uc001bjm.3	+	9	1265	c.1041_splice	c.e9-1	p.R347_splice	SRRM1_uc010oel.2_Splice_Site_p.R347_splice|SRRM1_uc009vrh.1_Splice_Site_p.R308_splice|SRRM1_uc009vri.1_Splice_Site_p.R264_splice|SRRM1_uc010oem.1_Splice_Site	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	347	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CTTTATTCCACAGAAGAAGACGT	0.419												
ARID1A	8289	broad.mit.edu	37	1	27089494	27089494	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8686-01A-11D-2394-08	TCGA-BR-8686-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e2f3833-01ad-4c0e-bbbd-4453b29317dc	14ec5473-f321-4a3a-a230-0293047438b0	g.chr1:27089493_27089493GC>G	uc001bmv.1	+	7	2822	c.2449_2449GC>G	c.(2449-2451)gccfs	p.A817fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.A817fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.A817fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.A434fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	817					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAACTATAATGCCTTGCCCAA	0.532			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
