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
CA6	765	broad.mit.edu	37	1	9017326	9017326	+	Silent	SNP	G	G	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:9017326G>T	uc001apm.2	+	3	414	c.390G>T	c.(388-390)GGG>GGT	p.G130G	CA6_uc009vmn.2_Silent_p.G70G	NM_001215	NP_001206	P23280	CAH6_HUMAN	carbonic anhydrase VI precursor	130					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			ovary(2)	2	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTGGACGGGATCAGACATG	0.478												
KIF17	57576	broad.mit.edu	37	1	21031239	21031239	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:21031239G>A	uc001bdr.3	-	5	942	c.824C>T	c.(823-825)TCG>TTG	p.S275L	KIF17_uc001bds.3_Missense_Mutation_p.S275L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	275					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CACCAGCGCCGAGATGACATT	0.667												
PTPRU	10076	broad.mit.edu	37	1	29641952	29641952	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:29641952G>A	uc001bru.2	+	24	3436	c.3326G>A	c.(3325-3327)GGC>GAC	p.G1109D	PTPRU_uc001brv.2_Missense_Mutation_p.G1105D|PTPRU_uc001brw.2_Missense_Mutation_p.G1099D|PTPRU_uc009vtq.2_Missense_Mutation_p.G1105D|PTPRU_uc009vtr.2_Missense_Mutation_p.G1096D	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1109	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GAGTGTGAGGGCGTCGTGGAC	0.592												
TIE1	7075	broad.mit.edu	37	1	43778820	43778820	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:43778820C>T	uc001ciu.2	+	13	2021	c.1942C>T	c.(1942-1944)CGA>TGA	p.R648*	TIE1_uc010okd.1_Nonsense_Mutation_p.R648*|TIE1_uc010oke.1_Nonsense_Mutation_p.R603*|TIE1_uc009vwq.2_Nonsense_Mutation_p.R604*|TIE1_uc010okf.1_Nonsense_Mutation_p.R293*|TIE1_uc010okg.1_Nonsense_Mutation_p.R293*	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	648	Fibronectin type-III 3.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCAGCCCCCCGACACCTCCA	0.627												
ATG4C	84938	broad.mit.edu	37	1	63282426	63282426	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:63282426G>A	uc001dat.2	+	4	503	c.341G>A	c.(340-342)AGA>AAA	p.R114K	ATG4C_uc001dau.2_Missense_Mutation_p.R114K	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	APG4 autophagy 4 homolog C isoform 8	114					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity			ovary(1)	1						TGCACATTGAGAACTGGCCAG	0.378												
NEGR1	257194	broad.mit.edu	37	1	72400786	72400786	+	Missense_Mutation	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:72400786T>G	uc001dfw.2	-	2	485	c.385A>C	c.(385-387)ATG>CTG	p.M129L	NEGR1_uc001dfv.2_Missense_Mutation_p.M1L|NEGR1_uc010oqs.1_Missense_Mutation_p.M129L	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	129	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TGCACCTGCATTGTTCTGGGT	0.373												
OLFM3	118427	broad.mit.edu	37	1	102302454	102302454	+	Missense_Mutation	SNP	A	A	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:102302454A>G	uc001duf.2	-	2	328	c.257T>C	c.(256-258)CTT>CCT	p.L86P	OLFM3_uc001dug.2_Missense_Mutation_p.L66P|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	86	Potential.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TAGTTGGCGAAGTTGCCTGCT	0.463												
KIRREL	55243	broad.mit.edu	37	1	158057634	158057634	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:158057634G>A	uc001frn.3	+	6	1155	c.751G>A	c.(751-753)GAG>AAG	p.E251K	KIRREL_uc010pib.1_Missense_Mutation_p.E151K|KIRREL_uc009wsq.2_Missense_Mutation_p.E87K|KIRREL_uc001fro.3_Missense_Mutation_p.E49K	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	251	Extracellular (Potential).|Ig-like C2-type 3.					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					AGCCAACCCCGAGATCTTGGG	0.597											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR10X1	128367	broad.mit.edu	37	1	158549035	158549035	+	Missense_Mutation	SNP	A	A	G	rs141124758		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:158549035A>G	uc010pin.1	-	1	655	c.655T>C	c.(655-657)TCA>CCA	p.S219P		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	219	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CCAGACACTGAGATCAGTGTT	0.448												
BAT2L2	23215	broad.mit.edu	37	1	171506531	171506531	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:171506531T>C	uc010pmg.1	+	15	2683	c.2417T>C	c.(2416-2418)CTG>CCG	p.L806P	BAT2L2_uc010pmh.1_5'Flank	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	806							protein C-terminus binding				0						CCTCGTATGCTGTGGGGGTCA	0.458												
TNN	63923	broad.mit.edu	37	1	175066623	175066623	+	Silent	SNP	G	G	A	rs147951218		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:175066623G>A	uc001gkl.1	+	8	1772	c.1659G>A	c.(1657-1659)CCG>CCA	p.P553P	TNN_uc010pmx.1_Intron	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	553	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTGGGACCCGGTACAGGCCA	0.542												
NPHS2	7827	broad.mit.edu	37	1	179544780	179544780	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:179544780C>T	uc001gmq.3	-	1	305	c.220G>A	c.(220-222)GGC>AGC	p.G74S	NPHS2_uc009wxi.2_Missense_Mutation_p.G74S	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	podocin	74	Cytoplasmic (Potential).				excretion	integral to plasma membrane	protein binding				0						CCCTCCTCGCCGGAGCCTCGG	0.706												
FAM5C	339479	broad.mit.edu	37	1	190234081	190234081	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:190234081G>A	uc001gse.1	-	4	764	c.532C>T	c.(532-534)CAT>TAT	p.H178Y	FAM5C_uc010pot.1_Missense_Mutation_p.H76Y	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	178						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					GCTAGCTGATGTAGCGTCTCC	0.468												
PTPRC	5788	broad.mit.edu	37	1	198719705	198719705	+	Silent	SNP	A	A	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:198719705A>C	uc001gur.1	+	29	3331	c.3151A>C	c.(3151-3153)AGA>CGA	p.R1051R	PTPRC_uc001gus.1_Silent_p.R1003R|PTPRC_uc001gut.1_Silent_p.R890R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1051	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						GATCTTCCAAAGAAAAGTCAA	0.388												
CAMSAP1L1	23271	broad.mit.edu	37	1	200823978	200823978	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:200823978G>A	uc001gvl.2	+	15	4160	c.3890G>A	c.(3889-3891)GGT>GAT	p.G1297D	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.G1286D|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.G1270D	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	1297						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						CTGAACACGGGTGATAACGAG	0.343												
LEFTY1	10637	broad.mit.edu	37	1	226075298	226075298	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:226075298C>T	uc001hpo.2	-	3	608	c.538G>A	c.(538-540)GTG>ATG	p.V180M	LEFTY1_uc010pvj.1_Missense_Mutation_p.R288H|LEFTY1_uc009xej.1_3'UTR	NM_020997	NP_066277	O75610	LFTY1_HUMAN	left-right determination, factor B	180					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)					GCCTCGGTCACGTCGAAGGCC	0.697												
OR2G2	81470	broad.mit.edu	37	1	247752495	247752495	+	Silent	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:247752495T>C	uc010pyy.1	+	1	834	c.834T>C	c.(832-834)TCT>TCC	p.S278S		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	278	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGTTTGTTTCTCTCTTCTACA	0.363												
OR2T12	127064	broad.mit.edu	37	1	248458004	248458004	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr1:248458004T>C	uc010pzj.1	-	1	877	c.877A>G	c.(877-879)AGT>GGT	p.S293G		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S293N(1)		skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TTGACCTCACTGTTCCTCACA	0.483												
CUBN	8029	broad.mit.edu	37	10	16957886	16957886	+	Missense_Mutation	SNP	A	A	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:16957886A>G	uc001ioo.2	-	46	7196	c.7144T>C	c.(7144-7146)TTT>CTT	p.F2382L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2382	CUB 17.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAAGGTTAAAGTCTTCAAAA	0.423												
GPR158	57512	broad.mit.edu	37	10	25861698	25861698	+	Silent	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:25861698T>G	uc001isj.2	+	7	1695	c.1635T>G	c.(1633-1635)ACT>ACG	p.T545T		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	545	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						TTGGCTGGACTTCATCTGTGT	0.473												
MASTL	84930	broad.mit.edu	37	10	27459533	27459533	+	Missense_Mutation	SNP	T	T	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:27459533T>A	uc001itm.2	+	8	2284	c.1645T>A	c.(1645-1647)TTA>ATA	p.L549I	MASTL_uc001itl.2_Missense_Mutation_p.L549I|MASTL_uc009xkw.1_Missense_Mutation_p.L549I|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	549	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						GAGGGACTACTTAAGTTCTAG	0.318												
KIAA1462	57608	broad.mit.edu	37	10	30316027	30316027	+	Missense_Mutation	SNP	G	G	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:30316027G>C	uc001iux.2	-	2	3109	c.3050C>G	c.(3049-3051)GCG>GGG	p.A1017G	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.A879G|KIAA1462_uc009xle.1_Missense_Mutation_p.A1017G	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1017										ovary(4)	4						CCGAGGGACCGCTTCACTTGG	0.572												
ZNF25	219749	broad.mit.edu	37	10	38241394	38241394	+	Silent	SNP	A	A	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:38241394A>G	uc001ize.1	-	6	1137	c.1032T>C	c.(1030-1032)TGT>TGC	p.C344C	ZNF25_uc001izf.1_Silent_p.C308C	NM_145011	NP_659448	P17030	ZNF25_HUMAN	zinc finger protein 25	344	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|central_nervous_system(1)	4		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				CACATTTATTACATTCAAAGG	0.408												
ZNF33A	7581	broad.mit.edu	37	10	38345147	38345147	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:38345147G>A	uc001izh.2	+	5	2270	c.2092G>A	c.(2092-2094)GGG>AGG	p.G698R	ZNF33A_uc001izg.2_Missense_Mutation_p.G699R|ZNF33A_uc010qev.1_Missense_Mutation_p.G705R|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	698	C2H2-type 14.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						CAATGAATGTGGGAAATTCTT	0.383												
STOX1	219736	broad.mit.edu	37	10	70644497	70644497	+	Silent	SNP	C	C	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:70644497C>G	uc001jos.2	+	3	1032	c.945C>G	c.(943-945)CTC>CTG	p.L315L	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Silent_p.L205L	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	315						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						GTTTTAGTCTCTTATGGCGCA	0.463												
AIFM2	84883	broad.mit.edu	37	10	71876494	71876494	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:71876494T>C	uc010qjg.1	-	6	666	c.653A>G	c.(652-654)AAT>AGT	p.N218S	AIFM2_uc001jqp.1_Missense_Mutation_p.N218S	NM_032797	NP_116186	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor (AIF)-like	218					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)	1						TCGATACTCATTGAGAGGCAG	0.582											OREG0020234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KCNMA1	3778	broad.mit.edu	37	10	78674744	78674744	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:78674744C>T	uc001jxn.2	-	24	3143	c.2966G>A	c.(2965-2967)CGT>CAT	p.R989H	KCNMA1_uc001jxj.2_Missense_Mutation_p.R935H|KCNMA1_uc001jxk.1_Missense_Mutation_p.R607H|KCNMA1_uc009xrt.1_Missense_Mutation_p.R780H|KCNMA1_uc001jxl.1_Missense_Mutation_p.R614H|KCNMA1_uc001jxo.2_Missense_Mutation_p.R972H|KCNMA1_uc001jxm.2_Missense_Mutation_p.R931H|KCNMA1_uc001jxq.2_Missense_Mutation_p.R934H	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	989	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GGATGGTTGACGTAACATCCC	0.483												
ZMIZ1	57178	broad.mit.edu	37	10	81052014	81052014	+	Silent	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:81052014G>A	uc001kaf.2	+	11	1430	c.858G>A	c.(856-858)GCG>GCA	p.A286A	ZMIZ1_uc001kag.2_Silent_p.A162A|ZMIZ1_uc001kah.1_Silent_p.A162A	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	286	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ctgcagcagcggcagtggcag	0.502												
CDHR1	92211	broad.mit.edu	37	10	85974024	85974024	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:85974024C>T	uc001kcv.2	+	17	2227	c.2227C>T	c.(2227-2229)CGG>TGG	p.R743W	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.R447W|CDHR1_uc001kcx.2_Missense_Mutation_p.R57W	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	743	Cytoplasmic (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						GCTCCGCAAGCGGCCCAGCCC	0.602												
ATRNL1	26033	broad.mit.edu	37	10	117026352	117026352	+	Silent	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:117026352T>C	uc001lcg.2	+	12	2237	c.1851T>C	c.(1849-1851)GCT>GCC	p.A617A		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	617	PSI 1.|Kelch 6.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATTGCAAGGCTTTCAGAGATG	0.333												
MUC6	4588	broad.mit.edu	37	11	1017663	1017663	+	Missense_Mutation	SNP	T	T	A	rs72022620		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:1017663T>A	uc001lsw.2	-	31	5189	c.5138A>T	c.(5137-5139)AAC>ATC	p.N1713I		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1713	Thr-rich.|1; truncated.|Approximate repeats.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGGGTGATGTTGGTGGTAGA	0.527												
OR52I2	143502	broad.mit.edu	37	11	4608534	4608534	+	Missense_Mutation	SNP	A	A	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:4608534A>T	uc010qyh.1	+	1	492	c.492A>T	c.(490-492)AGA>AGT	p.R164S		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I,	164	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTACAAGAGAATTCTCACGC	0.493												
LMO2	4005	broad.mit.edu	37	11	33886163	33886163	+	Missense_Mutation	SNP	C	C	T	rs111991485		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:33886163C>T	uc001mve.2	-	2	681	c.242G>A	c.(241-243)CGG>CAG	p.R81Q	LMO2_uc001mvc.2_Missense_Mutation_p.R74Q|LMO2_uc001mvd.2_Missense_Mutation_p.R74Q|LMO2_uc010rel.1_Missense_Mutation_p.R81Q|LMO2_uc010rem.1_Missense_Mutation_p.R150Q	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	LIM domain only 2 isoform 2	81	LIM zinc-binding 1.				multicellular organismal development	nucleus	protein binding|zinc ion binding			lung(1)	1						ATAGTCTCTCCGGCAGAGCTT	0.647			T	TRD@	T-ALL							
ACCSL	390110	broad.mit.edu	37	11	44074565	44074565	+	Missense_Mutation	SNP	T	T	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:44074565T>A	uc001mxw.1	+	7	951	c.895T>A	c.(895-897)TTC>ATC	p.F299I	ACCSL_uc009ykr.2_Missense_Mutation_p.F118I	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	299							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						CACCCATCCTTTCCAGCTCAC	0.453												
OR5D13	390142	broad.mit.edu	37	11	55541187	55541187	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:55541187A>T	uc010ril.1	+	1	274	c.274A>T	c.(274-276)AGA>TGA	p.R92*		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				TGTGGAATACAGAACCATCTC	0.393												
OR5T3	390154	broad.mit.edu	37	11	56019837	56019837	+	Silent	SNP	A	A	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:56019837A>G	uc010rjd.1	+	1	162	c.162A>G	c.(160-162)CAA>CAG	p.Q54Q		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	54	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					TTGAGCTGCAAGTCTTCCTAT	0.393												
GPR137	56834	broad.mit.edu	37	11	64055814	64055814	+	Silent	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:64055814G>A	uc001nzg.1	+	6	1094	c.786G>A	c.(784-786)GCG>GCA	p.A262A	GPR137_uc010rni.1_Silent_p.A320A|GPR137_uc001nzf.2_Silent_p.A212A|GPR137_uc001nzi.2_Silent_p.A262A|GPR137_uc010rnj.1_Silent_p.A262A|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	262	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1						TCCCACAGGCGGACCTGGTGA	0.627												
FOLH1B	219595	broad.mit.edu	37	11	89431691	89431691	+	Missense_Mutation	SNP	G	G	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:89431691G>T	uc001pda.2	+	14	1779	c.1253G>T	c.(1252-1254)GGA>GTA	p.G418V		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	418					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						AAGGCCTGGGGAGATGTGAAG	0.473												
GLB1L2	89944	broad.mit.edu	37	11	134214955	134214955	+	Silent	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr11:134214955C>T	uc001qhp.2	+	4	569	c.381C>T	c.(379-381)ATC>ATT	p.I127I	GLB1L2_uc009zdg.1_5'Flank	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	127					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCGCAGAGATCGGGCTGTGGG	0.662												
FGF6	2251	broad.mit.edu	37	12	4543436	4543436	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:4543436C>T	uc001qmr.1	-	3	616	c.572G>A	c.(571-573)CGG>CAG	p.R191Q		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	191					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CTTGCTGCCCCGCTTTACCCG	0.493												
KCNA5	3741	broad.mit.edu	37	12	5154932	5154932	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:5154932G>A	uc001qni.2	+	1	1848	c.1619G>A	c.(1618-1620)GGC>GAC	p.G540D		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	540						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GAAGAGCAGGGCACTCAGAGC	0.622												
BCAT1	586	broad.mit.edu	37	12	25002867	25002867	+	Missense_Mutation	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:25002867T>G	uc001rgd.3	-	6	969	c.527A>C	c.(526-528)AAG>ACG	p.K176T	BCAT1_uc001rgc.2_Missense_Mutation_p.K175T|BCAT1_uc010six.1_Missense_Mutation_p.K188T|BCAT1_uc010siy.1_Missense_Mutation_p.K139T|BCAT1_uc001rge.3_Missense_Mutation_p.K115T	NM_005504	NP_005495	P54687	BCAT1_HUMAN	branched chain aminotransferase 1, cytosolic	176					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	GGTAGGCTTCTTGACTCCAAG	0.428												
LRRK2	120892	broad.mit.edu	37	12	40697927	40697927	+	Missense_Mutation	SNP	A	A	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:40697927A>C	uc001rmg.3	+	27	3889	c.3768A>C	c.(3766-3768)AAA>AAC	p.K1256N	LRRK2_uc001rmh.1_Missense_Mutation_p.K878N|LRRK2_uc009zjw.2_Missense_Mutation_p.K94N|LRRK2_uc001rmi.2_Missense_Mutation_p.K89N	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1256	LRR 11.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTCACAATAAACTGAAAGAGG	0.308												
MLL2	8085	broad.mit.edu	37	12	49416540	49416540	+	Silent	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:49416540G>A	uc001rta.3	-	51	16171	c.16171C>T	c.(16171-16173)CTG>TTG	p.L5391L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5391					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TCGGTGCGCAGCCGCCGGTAC	0.552			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
C1QL4	338761	broad.mit.edu	37	12	49729959	49729959	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:49729959G>A	uc001rtz.1	-	1	1013	c.302C>T	c.(301-303)GCG>GTG	p.A101V		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	101						collagen					0						GGCAGCGGGCGCCACCCCGCC	0.746												
NAV3	89795	broad.mit.edu	37	12	78443852	78443852	+	Silent	SNP	C	C	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:78443852C>A	uc001syp.2	+	10	2276	c.2103C>A	c.(2101-2103)TCC>TCA	p.S701S	NAV3_uc001syo.2_Silent_p.S701S|NAV3_uc010sub.1_Silent_p.S201S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	701	Potential.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AGACTATGTCCAGTCTTCGTG	0.328										HNSCC(70;0.22)		
MGAT4C	25834	broad.mit.edu	37	12	86373864	86373864	+	Missense_Mutation	SNP	C	C	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:86373864C>A	uc001tai.3	-	8	1890	c.640G>T	c.(640-642)GCC>TCC	p.A214S	MGAT4C_uc001tal.3_Missense_Mutation_p.A214S|MGAT4C_uc001taj.3_Missense_Mutation_p.A214S|MGAT4C_uc001tak.3_Missense_Mutation_p.A214S|MGAT4C_uc010sum.1_Missense_Mutation_p.A238S|MGAT4C_uc001tah.3_Missense_Mutation_p.A214S	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	214	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						GAAGTATTGGCACAAAAATTA	0.333												
KSR2	283455	broad.mit.edu	37	12	118105417	118105417	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:118105417C>T	uc001two.2	-	5	1001	c.946G>A	c.(946-948)GTA>ATA	p.V316I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	345					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCTGCCTACGCTGCTGTGG	0.542												
EP400	57634	broad.mit.edu	37	12	132546656	132546656	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr12:132546656C>T	uc001ujn.2	+	45	7921	c.7886C>T	c.(7885-7887)ACG>ATG	p.T2629M	EP400_uc001ujl.2_Missense_Mutation_p.T2628M|EP400_uc001ujm.2_Missense_Mutation_p.T2548M|EP400_uc001ujp.2_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2665	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTTTTCTAGACGCCGGGAGGC	0.617												
MTUS2	23281	broad.mit.edu	37	13	29608101	29608101	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr13:29608101C>T	uc001usl.3	+	2	2373	c.2315C>T	c.(2314-2316)TCA>TTA	p.S772L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	762	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						TTCTATCGGTCAGCCATGCTC	0.463												
NBEA	26960	broad.mit.edu	37	13	35644947	35644947	+	Missense_Mutation	SNP	A	A	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr13:35644947A>T	uc001uvb.2	+	11	1735	c.1529A>T	c.(1528-1530)GAT>GTT	p.D510V		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	510						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCCCAATTGGATAATAGGCAG	0.368												
POSTN	10631	broad.mit.edu	37	13	38137480	38137480	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr13:38137480C>T	uc001uwo.3	-	23	2619	c.2501G>A	c.(2500-2502)CGT>CAT	p.R834H	POSTN_uc010tet.1_Missense_Mutation_p.R335H|POSTN_uc001uwp.3_Missense_Mutation_p.R777H|POSTN_uc001uwr.2_Missense_Mutation_p.R779H|POSTN_uc001uwq.2_Missense_Mutation_p.R749H	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	834					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TCACTGAGAACGACCTTCCCT	0.308												
MTRF1	9617	broad.mit.edu	37	13	41834883	41834883	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr13:41834883C>T	uc001uxx.2	-	4	631	c.161G>A	c.(160-162)AGT>AAT	p.S54N	MTRF1_uc001uxy.2_Missense_Mutation_p.S54N|MTRF1_uc001uxz.2_5'UTR|MTRF1_uc010tff.1_Missense_Mutation_p.S67N|MTRF1_uc001uyc.1_Missense_Mutation_p.S54N	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	54					regulation of translational termination	mitochondrion	translation release factor activity, codon specific				0		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CCAATTCTTACTTAACAGATG	0.388												
PCDH8	5100	broad.mit.edu	37	13	53420277	53420277	+	Silent	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr13:53420277G>A	uc001vhi.2	-	1	2498	c.2295C>T	c.(2293-2295)GCC>GCT	p.A765A	PCDH8_uc001vhj.2_Silent_p.A765A	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	765	Helical; (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGATGATGGCGGCCAGCAGCA	0.607												
MYCBP2	23077	broad.mit.edu	37	13	77664288	77664288	+	Missense_Mutation	SNP	G	G	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr13:77664288G>T	uc001vkf.2	-	61	10455	c.10364C>A	c.(10363-10365)GCA>GAA	p.A3455E	MYCBP2_uc010aev.2_Missense_Mutation_p.A2859E|MYCBP2_uc001vke.2_Missense_Mutation_p.A75E	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTAACTCGTGCAGGTAAAAT	0.358												
OCA2	4948	broad.mit.edu	37	15	28261279	28261279	+	Silent	SNP	C	C	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr15:28261279C>G	uc001zbh.3	-	8	971	c.861G>C	c.(859-861)GTG>GTC	p.V287V	OCA2_uc010ayv.2_Silent_p.V287V	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	287	Extracellular (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TCCTGCTCATCACTGAGTGCT	0.502									Oculocutaneous_Albinism			
FMN1	342184	broad.mit.edu	37	15	33261648	33261648	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr15:33261648G>A	uc001zhf.3	-	4	1585	c.1585C>T	c.(1585-1587)CGG>TGG	p.R529W		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	752	Potential.|Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGCTCGCCCCGGATATGAAAT	0.403												
RPAP1	26015	broad.mit.edu	37	15	41812627	41812627	+	Missense_Mutation	SNP	C	C	T	rs143725774	by1000genomes	TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr15:41812627C>T	uc001zod.2	-	22	3881	c.3757G>A	c.(3757-3759)GTG>ATG	p.V1253M	RPAP1_uc001zoc.2_Missense_Mutation_p.V272M	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1253	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAGGCTCCCACGTGTTCCCCA	0.642												
MYO5A	4644	broad.mit.edu	37	15	52667640	52667640	+	Missense_Mutation	SNP	C	C	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr15:52667640C>A	uc002aby.2	-	20	2682	c.2438G>T	c.(2437-2439)CGC>CTC	p.R813L	MYO5A_uc002abx.3_Missense_Mutation_p.R813L|MYO5A_uc010uge.1_Missense_Mutation_p.R682L	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	813	IQ 2.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTTGGTTCTGCGCAGAAACTT	0.413												
CILP	8483	broad.mit.edu	37	15	65491108	65491108	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr15:65491108G>A	uc002aon.2	-	9	1697	c.1516C>T	c.(1516-1518)CGC>TGC	p.R506C		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	506					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						TGGCCAAAGCGCATGGGCTCC	0.607												
C15orf59	388135	broad.mit.edu	37	15	74032739	74032739	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr15:74032739C>T	uc002avy.2	-	2	746	c.401G>A	c.(400-402)GGG>GAG	p.G134E		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	hypothetical protein LOC388135	134										pancreas(1)	1						AGGGCCAGCCCCTGGCCGAGT	0.627												
ARNT2	9915	broad.mit.edu	37	15	80806710	80806710	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr15:80806710C>T	uc002bfr.2	+	8	1007	c.841C>T	c.(841-843)CAC>TAC	p.H281Y	ARNT2_uc010unm.1_Missense_Mutation_p.H270Y|ARNT2_uc002bfs.2_Missense_Mutation_p.H270Y	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	281					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGCTGTGGTCCACTGTACAGG	0.493												
ADAMTSL3	57188	broad.mit.edu	37	15	84539669	84539669	+	Silent	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr15:84539669T>G	uc002bjz.3	+	9	1142	c.918T>G	c.(916-918)ACT>ACG	p.T306T	ADAMTSL3_uc010bmt.1_Silent_p.T306T|ADAMTSL3_uc010bmu.1_Silent_p.T306T	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	306						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGAGGCAAACTTTTAAGATTC	0.438												
ADAMTS18	170692	broad.mit.edu	37	16	77327095	77327095	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr16:77327095C>T	uc002ffc.3	-	20	3486	c.3067G>A	c.(3067-3069)GCA>ACA	p.A1023T	ADAMTS18_uc010chc.1_Missense_Mutation_p.A611T	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1023	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						AGGGTTTCTGCGGCAGAGCCC	0.562												
DNAH2	146754	broad.mit.edu	37	17	7689646	7689646	+	Missense_Mutation	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr17:7689646T>G	uc002giu.1	+	39	6348	c.6334T>G	c.(6334-6336)TTC>GTC	p.F2112V		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2112	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGACCCTAACTTCAACATTGT	0.597												
ZNF287	57336	broad.mit.edu	37	17	16470856	16470856	+	Missense_Mutation	SNP	G	G	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr17:16470856G>C	uc002gqi.2	-	2	643	c.190C>G	c.(190-192)CGA>GGA	p.R64G		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	57	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		AATGCCTTTCGAGGACCAGCC	0.463												
ERBB2	2064	broad.mit.edu	37	17	37863285	37863285	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr17:37863285C>T	uc002hso.2	+	2	354	c.116C>T	c.(115-117)CCC>CTC	p.P39L	ERBB2_uc002hsm.2_Missense_Mutation_p.P9L|ERBB2_uc010cwa.2_Missense_Mutation_p.P24L|ERBB2_uc002hsp.2_5'UTR|ERBB2_uc010cwb.2_Missense_Mutation_p.P39L|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.P9L|ERBB2_uc002hsn.1_Missense_Mutation_p.P39L	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	39	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CCTGCCAGTCCCGAGACCCAC	0.642		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)		
ERBB2	2064	broad.mit.edu	37	17	37880998	37880998	+	Missense_Mutation	SNP	G	G	T	rs144434331		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr17:37880998G>T	uc002hso.2	+	20	2565	c.2327G>T	c.(2326-2328)GGT>GTT	p.G776V	ERBB2_uc002hsm.2_Missense_Mutation_p.G746V|ERBB2_uc010cwa.2_Missense_Mutation_p.G761V|ERBB2_uc002hsp.2_Missense_Mutation_p.G579V|ERBB2_uc010cwb.2_Missense_Mutation_p.G776V|ERBB2_uc010wek.1_Missense_Mutation_p.G500V	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	776	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A775_G776insYVMA(19)|p.G776>VC(8)|p.G776>LC(3)|p.G776V(2)|p.G776S(2)		lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GTGATGGCTGGTGTGGGCTCC	0.577		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)		
ATP6V0A1	535	broad.mit.edu	37	17	40650953	40650953	+	Silent	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr17:40650953T>C	uc002hzr.2	+	15	1739	c.1572T>C	c.(1570-1572)ATT>ATC	p.I524I	ATP6V0A1_uc002hzq.2_Silent_p.I524I|ATP6V0A1_uc002hzs.2_Silent_p.I531I|ATP6V0A1_uc010wgj.1_Silent_p.I481I|ATP6V0A1_uc010wgk.1_Silent_p.I481I|ATP6V0A1_uc010cyg.2_Silent_p.I170I|ATP6V0A1_uc010wgl.1_Silent_p.I383I	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	524	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTTGGAACATTGCTACCAATA	0.328												
INTS2	57508	broad.mit.edu	37	17	59946443	59946443	+	Missense_Mutation	SNP	G	G	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr17:59946443G>C	uc002izn.2	-	23	3296	c.3220C>G	c.(3220-3222)CTT>GTT	p.L1074V	INTS2_uc002izm.2_Missense_Mutation_p.L1066V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1074					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						GCCACACTAAGTGACTTTGGT	0.343												
AATK	9625	broad.mit.edu	37	17	79095778	79095778	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr17:79095778G>A	uc010dia.2	-	11	2038	c.1958C>T	c.(1957-1959)GCG>GTG	p.A653V	AATK_uc010dhz.2_RNA	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	653						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAGCGGGGGCGCCCCTGAGCT	0.706												
LAMA1	284217	broad.mit.edu	37	18	6977748	6977748	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr18:6977748T>C	uc002knm.2	-	44	6417	c.6323A>G	c.(6322-6324)CAG>CGG	p.Q2108R	LAMA1_uc010wzj.1_Missense_Mutation_p.Q1584R	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2108	Domain II and I.|Potential.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTGCGGGCCTGGCTGATCAA	0.488												
TCEB3B	51224	broad.mit.edu	37	18	44559804	44559804	+	Missense_Mutation	SNP	A	A	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr18:44559804A>G	uc002lcr.1	-	1	2185	c.1832T>C	c.(1831-1833)CTT>CCT	p.L611P	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	611	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GGCGTCCGGAAGCCGCAGGTA	0.502												
CXXC1	30827	broad.mit.edu	37	18	47813192	47813192	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr18:47813192C>T	uc002leq.3	-	2	773	c.40G>A	c.(40-42)GGG>AGG	p.G14R	CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Missense_Mutation_p.G14R|CXXC1_uc010doy.2_Missense_Mutation_p.G14R|CXXC1_uc002les.2_Missense_Mutation_p.G14R	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	14					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CTGTCCTCCCCGGCATCTGGA	0.597												
DCC	1630	broad.mit.edu	37	18	50985613	50985613	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr18:50985613C>T	uc002lfe.1	+	24	3991	c.3404C>T	c.(3403-3405)ACC>ATC	p.T1135I	DCC_uc010dpf.1_Missense_Mutation_p.T770I	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1135	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAACGGGCCACCCACAGTGCT	0.448												
ADAMTSL5	339366	broad.mit.edu	37	19	1508022	1508022	+	Missense_Mutation	SNP	G	G	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:1508022G>C	uc002ltd.2	-	7	1020	c.576C>G	c.(574-576)TTC>TTG	p.F192L	ADAMTSL5_uc010dsl.2_5'UTR|ADAMTSL5_uc010xgq.1_Missense_Mutation_p.F202L	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5 precursor	192						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGCTGCACGAAAAGGCACG	0.652												
C3	718	broad.mit.edu	37	19	6694539	6694539	+	Silent	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:6694539C>T	uc002mfm.2	-	24	3119	c.3057G>A	c.(3055-3057)ACG>ACA	p.T1019T	C3_uc002mfl.2_5'Flank	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1019					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGACCGTGGGCGTCATGCCGA	0.607												
OR2Z1	284383	broad.mit.edu	37	19	8841424	8841424	+	Missense_Mutation	SNP	T	T	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:8841424T>A	uc010xkg.1	+	1	34	c.34T>A	c.(34-36)TTC>ATC	p.F12I		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2						GGCCTCAGACTTCATTCTGGT	0.502												
OR7D4	125958	broad.mit.edu	37	19	9324989	9324989	+	Silent	SNP	C	C	T	rs111293642	byFrequency	TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:9324989C>T	uc002mla.1	-	1	525	c.525G>A	c.(523-525)CCG>CCA	p.P175P		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	175	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AGAAGAAATGCGGAATCTCAG	0.507												
CALR3	125972	broad.mit.edu	37	19	16590003	16590003	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:16590003G>A	uc002ned.2	-	9	1157	c.1094C>T	c.(1093-1095)TCG>TTG	p.S365L	MED26_uc002nee.2_RNA	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	calreticulin 3 precursor	365	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0						AATTTTTCCCGACAGCAGCTC	0.443												
MAP1S	55201	broad.mit.edu	37	19	17838295	17838295	+	Missense_Mutation	SNP	C	C	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:17838295C>G	uc002nhe.1	+	5	2111	c.2102C>G	c.(2101-2103)TCC>TGC	p.S701C	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_5'UTR|MAP1S_uc010xpv.1_Missense_Mutation_p.S675C	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	701	Pro-rich.|Necessary for the microtubule-organizing center localization.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						CTGTCGGTGTCCTTTGAGCAG	0.711												
FKBP8	23770	broad.mit.edu	37	19	18652694	18652694	+	Silent	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:18652694C>T	uc002njk.1	-	2	200	c.87G>A	c.(85-87)GGG>GGA	p.G29G	FKBP8_uc002nji.1_5'Flank|FKBP8_uc010xqi.1_Silent_p.G58G|FKBP8_uc002njj.1_Silent_p.G29G|FKBP8_uc002njl.1_Silent_p.G29G|FKBP8_uc002njm.1_Silent_p.G29G|FKBP8_uc010ebr.1_5'UTR|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	29	Glu-rich.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			ovary(1)	1						CATCCTCAACCCCATCCAGTA	0.547												
ZNF486	90649	broad.mit.edu	37	19	20295168	20295168	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:20295168T>C	uc002nou.2	+	2	91	c.34T>C	c.(34-36)TCA>CCA	p.S12P		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	zinc finger protein 486	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTTTCAGGAATCATTGCAATT	0.398												
PAK4	10298	broad.mit.edu	37	19	39664631	39664631	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:39664631G>A	uc002okj.1	+	6	1540	c.1079G>A	c.(1078-1080)CGC>CAC	p.R360H	PAK4_uc002okl.1_Missense_Mutation_p.R360H|PAK4_uc002okn.1_Missense_Mutation_p.R360H|PAK4_uc002okm.1_Missense_Mutation_p.R207H|PAK4_uc002oko.1_Missense_Mutation_p.R207H|PAK4_uc002okp.1_Missense_Mutation_p.R270H	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	360	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CAGCAGAGGCGCGAGCTGCTC	0.517												
ZC3H4	23211	broad.mit.edu	37	19	47597703	47597703	+	Missense_Mutation	SNP	C	C	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:47597703C>G	uc002pga.3	-	3	362	c.324G>C	c.(322-324)AAG>AAC	p.K108N	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	108	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCCGCTCTTTCTTCCGTTTCC	0.552												
RCN3	57333	broad.mit.edu	37	19	50031892	50031892	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:50031892G>A	uc002poj.2	+	2	610	c.163G>A	c.(163-165)GAC>AAC	p.D55N		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	55						endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CTTCCAGTACGACCATGAGGC	0.642												
ZNF347	84671	broad.mit.edu	37	19	53644890	53644890	+	Silent	SNP	T	T	C	rs145023051		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:53644890T>C	uc002qbb.1	-	5	1260	c.1191A>G	c.(1189-1191)GGA>GGG	p.G397G	ZNF347_uc010eql.1_Silent_p.G398G|ZNF347_uc002qbc.1_Silent_p.G398G	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCACTGTGGG	0.413												
VN1R2	317701	broad.mit.edu	37	19	53762323	53762323	+	Missense_Mutation	SNP	C	C	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:53762323C>A	uc002qbi.2	+	1	779	c.695C>A	c.(694-696)ACT>AAT	p.T232N		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	232	Extracellular (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)		ATTTATACAACTGGCAAATGG	0.423												
VN1R4	317703	broad.mit.edu	37	19	53770580	53770580	+	Silent	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:53770580T>C	uc010ydu.1	-	1	339	c.339A>G	c.(337-339)AAA>AAG	p.K113K		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	113	Cytoplasmic (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)		CCCACCTGGATTTCCTGGAGC	0.498										HNSCC(26;0.072)		
VN1R4	317703	broad.mit.edu	37	19	53770593	53770593	+	Missense_Mutation	SNP	A	A	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:53770593A>C	uc010ydu.1	-	1	326	c.326T>G	c.(325-327)GTC>GGC	p.V109G		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	109	Helical; Name=3; (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)		CCTGGAGCTGACCGTGATCAC	0.502										HNSCC(26;0.072)		
TMC4	147798	broad.mit.edu	37	19	54664210	54664210	+	Silent	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:54664210T>C	uc010erf.2	-	14	2196	c.2064A>G	c.(2062-2064)AGA>AGG	p.R688R	LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Silent_p.R402R|TMC4_uc002qdo.2_Silent_p.R682R	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	688	Cytoplasmic (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCACCGTCTGTCTCtgacgtt	0.473												
ZNF471	57573	broad.mit.edu	37	19	57037314	57037314	+	Silent	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:57037314T>G	uc002qnh.2	+	5	2011	c.1878T>G	c.(1876-1878)CCT>CCG	p.P626P		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GAGAAGAACCTTAAGAATGTA	0.388												
ZNF71	58491	broad.mit.edu	37	19	57133214	57133214	+	Missense_Mutation	SNP	G	G	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:57133214G>T	uc002qnm.3	+	3	797	c.559G>T	c.(559-561)GCC>TCC	p.A187S		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	187	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GAAGCCCTATGCCTGCGGGGA	0.632												
ZNF329	79673	broad.mit.edu	37	19	58639918	58639918	+	Missense_Mutation	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:58639918T>G	uc002qrn.2	-	4	1190	c.953A>C	c.(952-954)AAC>ACC	p.N318T	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	318	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		CCCACATTCGTTACATCTATA	0.428												
SNTG2	54221	broad.mit.edu	37	2	1241710	1241710	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:1241710T>C	uc002qwq.2	+	10	898	c.770T>C	c.(769-771)CTC>CCC	p.L257P	SNTG2_uc010ewi.2_Missense_Mutation_p.L130P	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	257					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TCTGGGATCCTCCGGTTTTAC	0.642												
ATP6V1C2	245973	broad.mit.edu	37	2	10917808	10917808	+	Missense_Mutation	SNP	G	G	A	rs117054621	by1000genomes	TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:10917808G>A	uc002ras.2	+	11	1032	c.923G>A	c.(922-924)GGG>GAG	p.G308E	ATP6V1C2_uc002rat.2_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	308					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CCTGCTGCGGGGCAGACCGAC	0.597												
ADCY3	109	broad.mit.edu	37	2	25141312	25141312	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:25141312G>A	uc002rfs.3	-	1	744	c.545C>T	c.(544-546)ACG>ATG	p.T182M	ADCY3_uc010ykm.1_Missense_Mutation_p.T182M	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	182	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAGGGGCAGCGTGATGAAGAA	0.627												
ALMS1	7840	broad.mit.edu	37	2	73716933	73716933	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:73716933G>A	uc002sje.1	+	12	7961	c.7850G>A	c.(7849-7851)CGG>CAG	p.R2617Q	ALMS1_uc002sjf.1_Missense_Mutation_p.R2573Q|ALMS1_uc002sjg.2_Missense_Mutation_p.R2003Q|ALMS1_uc002sjh.1_Missense_Mutation_p.R2003Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2615					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						ACCAGAGGACGGCAGAACCCA	0.453												
LRP2	4036	broad.mit.edu	37	2	170131608	170131608	+	Missense_Mutation	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:170131608T>G	uc002ues.2	-	14	2126	c.1913A>C	c.(1912-1914)TAC>TCC	p.Y638S	LRP2_uc010zdf.1_Missense_Mutation_p.Y569S	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	638	LDL-receptor class B 5.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCCTGGTAGTACACTTGTGG	0.493												
GAD1	2571	broad.mit.edu	37	2	171700589	171700589	+	Missense_Mutation	SNP	A	A	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:171700589A>G	uc002ugi.2	+	7	1095	c.673A>G	c.(673-675)ATG>GTG	p.M225V		NM_000817	NP_000808	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 isoform GAD67	225					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTTTGTCCTCATGGAACAAAT	0.373												
SLC25A12	8604	broad.mit.edu	37	2	172690559	172690559	+	Missense_Mutation	SNP	A	A	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:172690559A>T	uc002uhh.2	-	8	848	c.759T>A	c.(757-759)TTT>TTA	p.F253L	SLC25A12_uc010fqh.2_Missense_Mutation_p.F146L|SLC25A12_uc010zdv.1_RNA	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	253					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CACTCTGGGCAAATTCCTCTG	0.328												
HOXD8	3234	broad.mit.edu	37	2	176995668	176995668	+	Missense_Mutation	SNP	C	C	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:176995668C>A	uc002uko.2	+	1	1192	c.574C>A	c.(574-576)CAA>AAA	p.Q192K	uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Missense_Mutation_p.Q8K|HOXD8_uc002ukp.2_Missense_Mutation_p.Q192K	NM_019558	NP_062458	P13378	HXD8_HUMAN	homeobox D8	192					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GATGAGACCACAAGGTTGGGA	0.463												
TTN	7273	broad.mit.edu	37	2	179472135	179472135	+	Missense_Mutation	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:179472135T>G	uc010zfg.1	-	226	45800	c.45576A>C	c.(45574-45576)GAA>GAC	p.E15192D	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E8887D|TTN_uc010zfi.1_Missense_Mutation_p.E8820D|TTN_uc010zfj.1_Missense_Mutation_p.E8695D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16119							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCAAAAACTTCTACCCTGG	0.383												
CWC22	57703	broad.mit.edu	37	2	180815583	180815583	+	Missense_Mutation	SNP	A	A	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:180815583A>C	uc010frh.1	-	18	2188	c.1888T>G	c.(1888-1890)TTC>GTC	p.F630V	CWC22_uc002uno.2_Missense_Mutation_p.F152V|CWC22_uc002unp.2_Missense_Mutation_p.F630V	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	630						catalytic step 2 spliceosome	protein binding|RNA binding				0						GAAGTAAAGAAGTTGATGGCA	0.313												
PLCL1	5334	broad.mit.edu	37	2	198950817	198950817	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:198950817G>A	uc010fsp.2	+	2	2867	c.2576G>A	c.(2575-2577)CGC>CAC	p.R859H	PLCL1_uc002uuv.3_Missense_Mutation_p.R780H	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	859					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	GCACAGAAGCGCAGTCTTTCA	0.438												
NBEAL1	65065	broad.mit.edu	37	2	204055113	204055113	+	Splice_Site	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:204055113G>A	uc002uzt.3	+	45	7167	c.6834_splice	c.e45+1	p.K2278_splice	NBEAL1_uc002uzs.3_Splice_Site_p.K988_splice	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3								binding			ovary(1)|skin(1)	2						ATTATTAAAGGTAAGTCAACA	0.338												
NPPC	4880	broad.mit.edu	37	2	232790333	232790333	+	Silent	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:232790333G>A	uc002vsl.1	-	2	183	c.183C>T	c.(181-183)GGC>GGT	p.G61G		NM_024409	NP_077720	P23582	ANFC_HUMAN	natriuretic peptide precursor C precursor	61					cGMP biosynthetic process|growth plate cartilage chondrocyte differentiation|growth plate cartilage chondrocyte proliferation|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vasoconstriction		hormone activity				0		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;9.35e-14)|BRCA - Breast invasive adenocarcinoma(100;0.00119)|LUSC - Lung squamous cell carcinoma(224;0.00746)|Lung(119;0.00834)		TGAGATTGGCGCCCCCGCCCC	0.731												
COL6A3	1293	broad.mit.edu	37	2	238283448	238283448	+	Missense_Mutation	SNP	G	G	A	rs114852262	by1000genomes	TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr2:238283448G>A	uc002vwl.2	-	8	3571	c.3286C>T	c.(3286-3288)CGC>TGC	p.R1096C	COL6A3_uc002vwo.2_Missense_Mutation_p.R890C|COL6A3_uc010znj.1_Missense_Mutation_p.R489C|COL6A3_uc002vwq.2_Missense_Mutation_p.R890C|COL6A3_uc002vwr.2_Missense_Mutation_p.R689C	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1096	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTCAGCTGGCGGACAGCGTTG	0.637												
ProSAPiP1	9762	broad.mit.edu	37	20	3146889	3146889	+	Missense_Mutation	SNP	G	G	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr20:3146889G>C	uc002wia.1	-	2	1975	c.577C>G	c.(577-579)CCT>GCT	p.P193A	ProSAPiP1_uc002wib.1_Missense_Mutation_p.P193A	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	193						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						AGGCCACCAGGGCCCTGCCGT	0.622												
C20orf196	149840	broad.mit.edu	37	20	5843951	5843951	+	Missense_Mutation	SNP	C	C	T	rs140278441		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr20:5843951C>T	uc002wmf.2	+	3	547	c.460C>T	c.(460-462)CGG>TGG	p.R154W		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	hypothetical protein LOC149840	154											0						GATCTTCAACCGGGACGGCTG	0.522												
REM1	28954	broad.mit.edu	37	20	30064147	30064147	+	Translation_Start_Site	SNP	C	C	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr20:30064147C>G	uc002wwa.2	+	2	183	c.-101C>G	c.(-103--99)ATCAG>ATGAG			NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM						small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGCAGCTCATCAGGACACTAT	0.507												
REM1	28954	broad.mit.edu	37	20	30064401	30064401	+	Silent	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr20:30064401C>T	uc002wwa.2	+	2	437	c.153C>T	c.(151-153)TCC>TCT	p.S51S		NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	51					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AATCAGCCTCCCTCAACCCTC	0.642												
KCNG1	3755	broad.mit.edu	37	20	49626407	49626407	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr20:49626407C>T	uc002xwa.3	-	2	764	c.469G>A	c.(469-471)GCG>ACG	p.A157T	KCNG1_uc002xwb.2_Missense_Mutation_p.A157T	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	157	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						TGGTCCTCCGCGATGCCCCAG	0.657												
BRWD1	54014	broad.mit.edu	37	21	40571563	40571563	+	Silent	SNP	A	A	G	rs2234546		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr21:40571563A>G	uc002yxk.1	-	40	4918	c.4779T>C	c.(4777-4779)TGT>TGC	p.C1593C	BRWD1_uc010goc.1_Silent_p.C236C|BRWD1_uc002yxl.2_Silent_p.C1593C	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTTTCTGCCACATCCATTTG	0.318											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
ARVCF	421	broad.mit.edu	37	22	19960533	19960533	+	Missense_Mutation	SNP	G	G	A	rs115199082	by1000genomes	TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr22:19960533G>A	uc002zqz.2	-	15	2736	c.2465C>T	c.(2464-2466)GCG>GTG	p.A822V	ARVCF_uc002zqy.2_Missense_Mutation_p.A338V	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	822	ARM 10.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					CACGTGTGACGCCGCCTTCGC	0.687												
TOM1	10043	broad.mit.edu	37	22	35743071	35743071	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr22:35743071C>T	uc003ann.2	+	15	1473	c.1348C>T	c.(1348-1350)CGG>TGG	p.R450W	TOM1_uc011ami.1_Missense_Mutation_p.R418W|TOM1_uc011amj.1_Missense_Mutation_p.R293W|TOM1_uc003ans.2_Missense_Mutation_p.R293W|TOM1_uc011amk.1_Missense_Mutation_p.R412W|TOM1_uc003anp.2_Missense_Mutation_p.R451W|TOM1_uc011aml.1_Missense_Mutation_p.R405W|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.R444W|TOM1_uc003anr.2_Missense_Mutation_p.R293W	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	450					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1						CCTGGAAGAACGGGCCAAAGC	0.672												
APOL2	23780	broad.mit.edu	37	22	36624137	36624137	+	Silent	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr22:36624137G>A	uc003aoz.2	-	5	663	c.327C>T	c.(325-327)GTC>GTT	p.V109V	APOL2_uc011amm.1_Silent_p.V221V|APOL2_uc003apa.2_Silent_p.V109V	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	109					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding				0						TGCCTCTGTGGACCTGCTCAA	0.552												
SCN5A	6331	broad.mit.edu	37	3	38651268	38651268	+	Silent	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr3:38651268G>A	uc003cio.2	-	7	1085	c.891C>T	c.(889-891)GAC>GAT	p.D297D	SCN5A_uc003cin.2_Silent_p.D297D|SCN5A_uc003cil.3_Silent_p.D297D|SCN5A_uc010hhi.2_Silent_p.D297D|SCN5A_uc010hhk.2_Silent_p.D297D|SCN5A_uc011ayr.1_Silent_p.D297D|SCN5A_uc010hhl.1_Silent_p.D120D	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	297					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGACCAAGCCGTCGGCCTCCA	0.602												
SCN10A	6336	broad.mit.edu	37	3	38783917	38783917	+	Missense_Mutation	SNP	A	A	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr3:38783917A>C	uc003ciq.2	-	13	1971	c.1971T>G	c.(1969-1971)ATT>ATG	p.I657M		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	657					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCCCAAAGAGAATTGTCTTGA	0.532												
GRM2	2912	broad.mit.edu	37	3	51746690	51746690	+	Missense_Mutation	SNP	G	G	A	rs143196180		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr3:51746690G>A	uc010hlv.2	+	3	891	c.652G>A	c.(652-654)GAG>AAG	p.E218K	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	218	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CGACTATGGCGAGACAGGCAT	0.592												
PPP4R2	151987	broad.mit.edu	37	3	73108206	73108206	+	Missense_Mutation	SNP	G	G	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr3:73108206G>T	uc003dph.1	+	4	376	c.306G>T	c.(304-306)CAG>CAT	p.Q102H	PPP4R2_uc003dpi.1_Missense_Mutation_p.Q45H|FLJ10213_uc003dpj.2_5'Flank	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	102					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			lung(1)	1		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		TTACTATTCAGCGACTATGTG	0.308												
CNTN3	5067	broad.mit.edu	37	3	74411082	74411082	+	Silent	SNP	A	A	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr3:74411082A>C	uc003dpm.1	-	10	1403	c.1323T>G	c.(1321-1323)TCT>TCG	p.S441S		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	441	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCTTCCAGGAAGAGAGTGCCC	0.478												
ROBO1	6091	broad.mit.edu	37	3	78649331	78649331	+	Silent	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr3:78649331T>G	uc003dqe.2	-	30	5081	c.4873A>C	c.(4873-4875)AGA>CGA	p.R1625R	ROBO1_uc003dqb.2_Silent_p.R1586R|ROBO1_uc003dqc.2_Silent_p.R1525R|ROBO1_uc003dqd.2_Silent_p.R1580R|ROBO1_uc010hoh.2_Silent_p.R817R	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1625	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GCAATATTTCTTCGACCTACA	0.373												
BCHE	590	broad.mit.edu	37	3	165503945	165503945	+	Missense_Mutation	SNP	A	A	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr3:165503945A>C	uc003fem.3	-	3	1832	c.1672T>G	c.(1672-1674)TTG>GTG	p.L558V	BCHE_uc003fen.3_RNA	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	558					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GTCATTTCCAAGACTTTTGGA	0.358												
ATP11B	23200	broad.mit.edu	37	3	182631761	182631761	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr3:182631761G>A	uc003flb.2	+	29	3688	c.3431G>A	c.(3430-3432)TGT>TAT	p.C1144Y	ATP11B_uc003flc.2_Missense_Mutation_p.C728Y|ATP11B_uc010hxg.2_RNA|ATP11B_uc010hxh.1_3'UTR	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1144	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATAGGAAGATGTAGTCCAACC	0.483												
MAEA	10296	broad.mit.edu	37	4	1316182	1316182	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr4:1316182T>C	uc003gda.2	+	4	500	c.470T>C	c.(469-471)ATT>ACT	p.I157T	MAEA_uc010ibs.1_Intron|MAEA_uc003gdb.2_Intron|MAEA_uc011bvb.1_Missense_Mutation_p.I89T|MAEA_uc003gdc.2_Intron|MAEA_uc003gdd.2_Intron|MAEA_uc011bvc.1_Missense_Mutation_p.I156T|MAEA_uc011bvd.1_Missense_Mutation_p.I109T|MAEA_uc010ibt.2_Intron	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	157					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CTAGTGAATATTGAGATGTTC	0.607												
PSAPL1	768239	broad.mit.edu	37	4	7436039	7436039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr4:7436039G>A	uc011bwj.1	-	1	662	c.568C>T	c.(568-570)CAG>TAG	p.Q190*	SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	prosaposin-like protein 1	190	Saposin B-type 2.				sphingolipid metabolic process	extracellular region|lysosome					0						CGGGAGACCTGCCGTACACAG	0.632												
ADAMTS3	9508	broad.mit.edu	37	4	73148877	73148877	+	Silent	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr4:73148877T>G	uc003hgk.1	-	22	3631	c.3594A>C	c.(3592-3594)ACA>ACC	p.T1198T		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1198					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGATGATCTTGTCGGACGTC	0.443												
MMRN1	22915	broad.mit.edu	37	4	90849051	90849051	+	Missense_Mutation	SNP	A	A	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr4:90849051A>C	uc003hst.2	+	5	1132	c.1061A>C	c.(1060-1062)AAC>ACC	p.N354T	MMRN1_uc010iku.2_Missense_Mutation_p.N320T|MMRN1_uc011cds.1_Missense_Mutation_p.N96T	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	354	Potential.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GATGTAAGGAACACTTACTCC	0.333												
TTC29	83894	broad.mit.edu	37	4	147724808	147724808	+	Missense_Mutation	SNP	A	A	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr4:147724808A>C	uc003ikw.3	-	11	1358	c.1131T>G	c.(1129-1131)TTT>TTG	p.F377L	TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.F403L|TTC29_uc010ipd.1_Missense_Mutation_p.F377L	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	377	TPR 5.						binding				0	all_hematologic(180;0.151)					AAGCTTGCTGAAAGCATTCAG	0.353												
TRIML2	205860	broad.mit.edu	37	4	189012589	189012589	+	Missense_Mutation	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr4:189012589T>G	uc003izl.2	-	7	1138	c.1102A>C	c.(1102-1104)AGT>CGT	p.S368R	TRIML2_uc003izj.1_Missense_Mutation_p.S196R|TRIML2_uc003izk.1_Missense_Mutation_p.S176R|TRIML2_uc011cle.1_Missense_Mutation_p.S443R	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	368	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GAGTCTGGACTTGTGTCTCCA	0.473												
MYO10	4651	broad.mit.edu	37	5	16701398	16701398	+	Missense_Mutation	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr5:16701398T>G	uc003jft.3	-	25	3574	c.3106A>C	c.(3106-3108)ATG>CTG	p.M1036L	MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Missense_Mutation_p.M393L|MYO10_uc011cne.1_Missense_Mutation_p.M393L|MYO10_uc010itx.2_Missense_Mutation_p.M659L	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1036					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GTGTCGTTCATGTATGGGTCC	0.642												
CDH18	1016	broad.mit.edu	37	5	19503122	19503122	+	Missense_Mutation	SNP	A	A	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr5:19503122A>C	uc003jgc.2	-	10	1986	c.1609T>G	c.(1609-1611)TTC>GTC	p.F537V	CDH18_uc003jgd.2_Missense_Mutation_p.F537V|CDH18_uc011cnm.1_Missense_Mutation_p.F537V	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	537	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTCAGAGTGAAGTTTGGATTT	0.343												
ADAMTS12	81792	broad.mit.edu	37	5	33891855	33891855	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr5:33891855C>T	uc003jia.1	-	1	270	c.107G>A	c.(106-108)CGC>CAC	p.R36H	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R36H|ADAMTS12_uc003jib.1_Missense_Mutation_p.R36H	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	36					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GTCCGGGAAGCGAACCGGGCC	0.532										HNSCC(64;0.19)		
SPEF2	79925	broad.mit.edu	37	5	35807336	35807336	+	Missense_Mutation	SNP	A	A	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr5:35807336A>G	uc003jjo.2	+	36	5471	c.5360A>G	c.(5359-5361)TAT>TGT	p.Y1787C	SPEF2_uc003jjp.1_Missense_Mutation_p.Y1273C|SPEF2_uc003jjr.2_Missense_Mutation_p.Y842C	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1787					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTTCAAATTATTCAGACTAT	0.403												
C5orf42	65250	broad.mit.edu	37	5	37198821	37198821	+	Silent	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr5:37198821T>G	uc011cpa.1	-	20	3886	c.3655A>C	c.(3655-3657)AGA>CGA	p.R1219R	C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.R294R|C5orf42_uc011cpb.1_Silent_p.R100R	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1219										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATGACTTTTCTTGCCCACCTC	0.363												
PCDHB10	56126	broad.mit.edu	37	5	140572774	140572774	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr5:140572774G>A	uc003lix.2	+	1	823	c.649G>A	c.(649-651)GGT>AGT	p.G217S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	217	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCGCTGGATGGTGGGTCTCC	0.547												
IRF4	3662	broad.mit.edu	37	6	401485	401485	+	Silent	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr6:401485C>T	uc003msz.3	+	7	920	c.807C>T	c.(805-807)TCC>TCT	p.S269S	IRF4_uc010jne.1_Silent_p.S269S|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.S268S|IRF4_uc003mtc.1_Silent_p.S99S	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	269					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TGACCACGTCCAGCCCCGAGG	0.602			T	IGH@	MM 							
KIAA1949	170954	broad.mit.edu	37	6	30652350	30652350	+	Silent	SNP	A	A	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr6:30652350A>C	uc003nra.2	-	2	1677	c.1446T>G	c.(1444-1446)CCT>CCG	p.P482P	KIAA1949_uc003nrb.3_Silent_p.P482P	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	482						cytoplasm|cytoskeleton	actin binding				0						CTGGGGTCGCAGGGGGCACAG	0.677												
DNAH8	1769	broad.mit.edu	37	6	38834386	38834386	+	Missense_Mutation	SNP	G	G	A	rs139579198		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr6:38834386G>A	uc003ooe.1	+	44	6467	c.5867G>A	c.(5866-5868)CGC>CAC	p.R1956H		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TATGCTGGGCGCCAGGAACTA	0.323												
HTR1E	3354	broad.mit.edu	37	6	87725376	87725376	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr6:87725376C>A	uc003pli.2	+	2	1027	c.324C>A	c.(322-324)TGC>TGA	p.C108*		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	108	Helical; Name=3; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GCTGCACCTGCTCCATCCTCC	0.562												
SFRS13B	135295	broad.mit.edu	37	6	89816961	89816961	+	Missense_Mutation	SNP	G	G	A	rs138061111	by1000genomes	TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr6:89816961G>A	uc003pmy.3	-	2	276	c.82C>T	c.(82-84)CGT>TGT	p.R28C		NM_080743	NP_542781	Q8WXF0	SRS12_HUMAN	serine-arginine repressor protein	28	RRM.				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding				0						CCAAACTCACGGCGCAAGTCC	0.398												
IGF2R	3482	broad.mit.edu	37	6	160485874	160485874	+	Missense_Mutation	SNP	G	G	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr6:160485874G>C	uc003qta.2	+	29	4204	c.4056G>C	c.(4054-4056)TTG>TTC	p.L1352F		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1352	9.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GTTCCTACTTGTTTGAGTGGC	0.378												
SDK1	221935	broad.mit.edu	37	7	4014046	4014046	+	Silent	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:4014046G>A	uc003smx.2	+	13	2002	c.1863G>A	c.(1861-1863)ACG>ACA	p.T621T		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	621	Ig-like C2-type 6.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CATCGAGCACGTCTAGGATCG	0.547												
ABCA13	154664	broad.mit.edu	37	7	48654929	48654929	+	Silent	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:48654929C>T	uc003toq.2	+	59	14818	c.14793C>T	c.(14791-14793)AAC>AAT	p.N4931N	ABCA13_uc010kys.1_Silent_p.N2006N|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Silent_p.N661N	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4931	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TAATGGTTAACGGCAGCTTCA	0.423												
MAGI2	9863	broad.mit.edu	37	7	77885499	77885499	+	Missense_Mutation	SNP	A	A	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:77885499A>G	uc003ugx.2	-	10	2062	c.1808T>C	c.(1807-1809)CTT>CCT	p.L603P	MAGI2_uc003ugy.2_Missense_Mutation_p.L603P|MAGI2_uc010ldx.1_Missense_Mutation_p.L212P|MAGI2_uc010ldy.1_Missense_Mutation_p.L212P|MAGI2_uc011kgr.1_Missense_Mutation_p.L435P|MAGI2_uc011kgs.1_Missense_Mutation_p.L440P	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	603						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAAGGTCATAAGTTCAGCTTG	0.522												
PCLO	27445	broad.mit.edu	37	7	82582248	82582248	+	Missense_Mutation	SNP	A	A	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:82582248A>G	uc003uhx.2	-	5	8310	c.8021T>C	c.(8020-8022)GTT>GCT	p.V2674A	PCLO_uc003uhv.2_Missense_Mutation_p.V2674A|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2605					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AGTCTTGGAAACTTCAGTAGT	0.458												
PCLO	27445	broad.mit.edu	37	7	82584865	82584865	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:82584865T>C	uc003uhx.2	-	5	5693	c.5404A>G	c.(5404-5406)AGT>GGT	p.S1802G	PCLO_uc003uhv.2_Missense_Mutation_p.S1802G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1733					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TTACTAGAACTCTTTCTTTGT	0.373												
SAMD9L	219285	broad.mit.edu	37	7	92760645	92760645	+	Missense_Mutation	SNP	G	G	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:92760645G>T	uc003umh.1	-	5	5856	c.4640C>A	c.(4639-4641)CCA>CAA	p.P1547Q	SAMD9L_uc003umj.1_Missense_Mutation_p.P1547Q|SAMD9L_uc003umi.1_Missense_Mutation_p.P1547Q|SAMD9L_uc010lfb.1_Missense_Mutation_p.P1547Q|SAMD9L_uc003umk.1_Missense_Mutation_p.P1547Q|SAMD9L_uc010lfc.1_Missense_Mutation_p.P1547Q|SAMD9L_uc010lfd.1_Missense_Mutation_p.P1547Q|SAMD9L_uc011khx.1_3'UTR	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1547										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGATATTACTGGTATTTTTAT	0.393												
TRRAP	8295	broad.mit.edu	37	7	98574180	98574180	+	Silent	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:98574180G>A	uc003upp.2	+	54	8222	c.8013G>A	c.(8011-8013)GCG>GCA	p.A2671A	TRRAP_uc011kis.1_Silent_p.A2653A|TRRAP_uc003upr.2_Silent_p.A2370A	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2671					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCCAGCGCGCTGAACTGCT	0.587												
PCOLCE	5118	broad.mit.edu	37	7	100204069	100204069	+	Silent	SNP	C	C	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:100204069C>A	uc003uvo.2	+	6	954	c.756C>A	c.(754-756)CTC>CTA	p.L252L	uc011kjy.1_5'Flank|PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_RNA	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	252	CUB 2.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity				0	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATGAACTCCTCGTCCAGTTCG	0.627												
CUX1	1523	broad.mit.edu	37	7	101813812	101813812	+	Missense_Mutation	SNP	C	C	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:101813812C>G	uc003uyx.3	+	10	848	c.810C>G	c.(808-810)ATC>ATG	p.I270M	CUX1_uc003uys.3_Missense_Mutation_p.I281M|CUX1_uc003uyt.2_Missense_Mutation_p.I281M|CUX1_uc011kkn.1_Missense_Mutation_p.I244M|CUX1_uc003uyw.2_Missense_Mutation_p.I235M|CUX1_uc003uyv.2_Missense_Mutation_p.I265M|CUX1_uc003uyu.2_Missense_Mutation_p.I281M	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	270	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						CCTCACAGATCCAGAAGGCAC	0.607												
SLC26A4	5172	broad.mit.edu	37	7	107341590	107341590	+	Silent	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:107341590G>A	uc003vep.2	+	16	1976	c.1752G>A	c.(1750-1752)GCG>GCA	p.A584A	SLC26A4_uc011kmb.1_Silent_p.A171A|SLC26A4_uc011kmc.1_Silent_p.A145A|SLC26A4_uc011kmd.1_Silent_p.A153A	NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	584	STAS.|Cytoplasmic (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)	7						GGCTGAAAGCGCTGAGGAAAA	0.343									Pendred_syndrome			
PPP1R3A	5506	broad.mit.edu	37	7	113519745	113519745	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:113519745T>C	uc010ljy.1	-	4	1433	c.1402A>G	c.(1402-1404)AAA>GAA	p.K468E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	468					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						TCATGTTTTTTATTAAGGTTT	0.398												
KCND2	3751	broad.mit.edu	37	7	119915642	119915642	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr7:119915642G>A	uc003vjj.1	+	1	1921	c.956G>A	c.(955-957)AGT>AAT	p.S319N		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	319	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					ACACTGAAGAGTTGTGCCTCA	0.522												
WRN	7486	broad.mit.edu	37	8	30938648	30938648	+	Nonsense_Mutation	SNP	C	C	T	rs17847577		TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:30938648C>T	uc003xio.3	+	9	1893	c.1105C>T	c.(1105-1107)CGA>TGA	p.R369*	WRN_uc011lbd.1_Nonsense_Mutation_p.R72*|WRN_uc011lbe.1_5'Flank	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	369					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TAAAGTGGAACGAAAAGAAGA	0.343			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome			
NRG1	3084	broad.mit.edu	37	8	31498085	31498085	+	Silent	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:31498085C>T	uc003xip.2	+	1	818	c.585C>T	c.(583-585)TCC>TCT	p.S195S		NM_013962	NP_039256	Q02297	NRG1_HUMAN	neuregulin 1 isoform GGF2	Error:Variant_position_missing_in_Q02297_after_alignment					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCTTCCCCTCCTGCGGGAGGC	0.682												
VCPIP1	80124	broad.mit.edu	37	8	67577705	67577705	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:67577705T>C	uc003xwn.2	-	1	1748	c.1489A>G	c.(1489-1491)AGT>GGT	p.S497G	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	497					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCATGAGTACTTTTTGCCAGG	0.428												
PRDM14	63978	broad.mit.edu	37	8	70981763	70981763	+	Silent	SNP	C	C	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:70981763C>A	uc003xym.2	-	2	535	c.333G>T	c.(331-333)GTG>GTT	p.V111V		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGAAGGGCGGCACTTCCCTGG	0.627												
KCNB2	9312	broad.mit.edu	37	8	73480224	73480224	+	Missense_Mutation	SNP	C	C	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:73480224C>G	uc003xzb.2	+	2	843	c.255C>G	c.(253-255)AAC>AAG	p.N85K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	85	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TGAACGAGAACGAGTATTTCT	0.512												
CNBD1	168975	broad.mit.edu	37	8	88296940	88296940	+	Missense_Mutation	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:88296940T>G	uc003ydy.2	+	7	854	c.806T>G	c.(805-807)GTT>GGT	p.V269G		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	269										ovary(3)	3						ACTCTGGAAGTTATGCCTCAG	0.388												
DPYS	1807	broad.mit.edu	37	8	105436539	105436539	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:105436539T>C	uc003yly.3	-	7	1300	c.1171A>G	c.(1171-1173)AGA>GGA	p.R391G		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	391					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTCCTTTTCTTGGATAGAGA	0.373												
ZFPM2	23414	broad.mit.edu	37	8	106813482	106813482	+	Missense_Mutation	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:106813482T>G	uc003ymd.2	+	8	1195	c.1172T>G	c.(1171-1173)CTT>CGT	p.L391R	ZFPM2_uc011lhs.1_Missense_Mutation_p.L122R|uc003yme.1_5'Flank	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	391					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGCGGCAAACTTCCCAGAGAA	0.517												
SYBU	55638	broad.mit.edu	37	8	110592127	110592127	+	Missense_Mutation	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:110592127T>G	uc003ynj.3	-	5	798	c.635A>C	c.(634-636)CAG>CCG	p.Q212P	SYBU_uc003yni.3_Missense_Mutation_p.Q209P|SYBU_uc003ynk.3_Missense_Mutation_p.Q93P|SYBU_uc010mco.2_Missense_Mutation_p.Q211P|SYBU_uc003ynl.3_Missense_Mutation_p.Q211P|SYBU_uc010mcp.2_Missense_Mutation_p.Q212P|SYBU_uc010mcq.2_Missense_Mutation_p.Q212P|SYBU_uc003yno.3_Missense_Mutation_p.Q93P|SYBU_uc010mcr.2_Missense_Mutation_p.Q212P|SYBU_uc003ynm.3_Missense_Mutation_p.Q211P|SYBU_uc003ynn.3_Missense_Mutation_p.Q211P|SYBU_uc010mcs.2_Missense_Mutation_p.Q93P|SYBU_uc010mct.2_Missense_Mutation_p.Q212P|SYBU_uc010mcu.2_Missense_Mutation_p.Q211P|SYBU_uc003ynp.3_Missense_Mutation_p.Q144P|SYBU_uc010mcv.2_Missense_Mutation_p.Q212P|SYBU_uc003ynh.3_Missense_Mutation_p.Q6P|SYBU_uc011lhw.1_Missense_Mutation_p.Q82P	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	212	Sufficient for interaction with KIF5B.|Ser-rich.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						AGGGCTCAGCTGATTCCTGCA	0.557												
CSMD3	114788	broad.mit.edu	37	8	113933891	113933891	+	Missense_Mutation	SNP	A	A	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:113933891A>C	uc003ynu.2	-	10	1757	c.1598T>G	c.(1597-1599)TTT>TGT	p.F533C	CSMD3_uc003ynt.2_Missense_Mutation_p.F493C|CSMD3_uc011lhx.1_Missense_Mutation_p.F429C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	533	Extracellular (Potential).|Sushi 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCAAGCAGCAAAAACTTCAGC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRPS1	7227	broad.mit.edu	37	8	116426893	116426893	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr8:116426893T>C	uc003ynz.2	-	6	3663	c.3204A>G	c.(3202-3204)ATA>ATG	p.I1068M	TRPS1_uc011lhy.1_Missense_Mutation_p.I1072M|TRPS1_uc003yny.2_Missense_Mutation_p.I1081M|TRPS1_uc010mcy.2_Missense_Mutation_p.I1068M	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1068	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGTACTTTTCTATAGGACTGC	0.428									Langer-Giedion_syndrome			
PTPRD	5789	broad.mit.edu	37	9	8389280	8389280	+	Silent	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr9:8389280T>C	uc003zkk.2	-	36	5049	c.4338A>G	c.(4336-4338)CAA>CAG	p.Q1446Q	PTPRD_uc003zkp.2_Silent_p.Q1040Q|PTPRD_uc003zkq.2_Silent_p.Q1039Q|PTPRD_uc003zkr.2_Silent_p.Q1030Q|PTPRD_uc003zks.2_Silent_p.Q1039Q|PTPRD_uc003zkl.2_Silent_p.Q1437Q|PTPRD_uc003zkm.2_Silent_p.Q1433Q|PTPRD_uc003zkn.2_Silent_p.Q1035Q|PTPRD_uc003zko.2_Silent_p.Q1036Q	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1446	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGGCACTCCGTTGTTCCCATA	0.413										TSP Lung(15;0.13)		
CDKN2A	1029	broad.mit.edu	37	9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr9:21971000C>A	uc003zpk.2	-	2	570	c.358G>T	c.(358-360)GAG>TAG	p.E120*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	120	ANK 4.		E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.E120*(8)|p.E120K(4)|p.E120A(1)|p.A118fs*10(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)		
TMEM215	401498	broad.mit.edu	37	9	32784496	32784496	+	Silent	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr9:32784496G>A	uc003zri.3	+	2	680	c.315G>A	c.(313-315)AAG>AAA	p.K105K		NM_212558	NP_997723	Q68D42	TM215_HUMAN	transmembrane protein 215	105						integral to membrane					0						AATCCGGCAAGGGGAGCTCAG	0.612												
FBP1	2203	broad.mit.edu	37	9	97369109	97369109	+	Silent	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr9:97369109C>T	uc004auw.3	-	5	1024	c.693G>A	c.(691-693)AAG>AAA	p.K231K	FBP1_uc010mrl.2_Silent_p.K231K	NM_000507	NP_000498	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	231					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	GGGGGAACTTCTTCCTCTGGA	0.562												
MUSK	4593	broad.mit.edu	37	9	113550077	113550077	+	Missense_Mutation	SNP	T	T	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr9:113550077T>C	uc004bey.2	+	13	1984	c.1886T>C	c.(1885-1887)CTC>CCC	p.L629P	MUSK_uc004bez.1_Missense_Mutation_p.L209P	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	629	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						GAGGCAGCCCTCATGGCAGAA	0.428												
SPTAN1	6709	broad.mit.edu	37	9	131329241	131329241	+	Missense_Mutation	SNP	C	C	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr9:131329241C>G	uc004bvl.3	+	2	335	c.222C>G	c.(220-222)GAC>GAG	p.D74E	SPTAN1_uc011mbg.1_Missense_Mutation_p.D74E|SPTAN1_uc011mbh.1_Missense_Mutation_p.D86E|SPTAN1_uc004bvm.3_Missense_Mutation_p.D74E|SPTAN1_uc004bvn.3_Missense_Mutation_p.D74E	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	74	Spectrin 2.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						ATTATAAAGACCCAACCAACT	0.398												
ABL1	25	broad.mit.edu	37	9	133738348	133738348	+	Missense_Mutation	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr9:133738348G>A	uc004bzw.2	+	4	751	c.748G>A	c.(748-750)GGG>AGG	p.G250R	ABL1_uc004bzv.2_Missense_Mutation_p.G269R|uc004bzx.1_5'Flank	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	250	Protein kinase.|ATP.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.G250E(72)		haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CAAGCTGGGCGGGGGCCAGTA	0.612			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL							
DBH	1621	broad.mit.edu	37	9	136501612	136501612	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr9:136501612C>T	uc004cel.2	+	1	128	c.119C>T	c.(118-120)TCG>TTG	p.S40L		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	40	Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTGCAGGGCTCGGCTCCCCGT	0.662												
SCML2	10389	broad.mit.edu	37	X	18352182	18352182	+	Missense_Mutation	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chrX:18352182T>G	uc004cyl.2	-	2	167	c.10A>C	c.(10-12)ACA>CCA	p.T4P	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.T4P|SCML2_uc011miz.1_5'UTR	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	4					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					TCATTCACTGTTTGTCCCATG	0.328												
MAGEB4	4115	broad.mit.edu	37	X	30261268	30261268	+	Missense_Mutation	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chrX:30261268C>T	uc004dcb.2	+	1	1100	c.1016C>T	c.(1015-1017)TCC>TTC	p.S339F	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	339										ovary(1)	1						AGGGCCACATCCAGTAGCTCT	0.512												
KLHL4	56062	broad.mit.edu	37	X	86877393	86877393	+	Silent	SNP	T	T	G			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chrX:86877393T>G	uc004efb.2	+	5	1289	c.1107T>G	c.(1105-1107)TCT>TCG	p.S369S	KLHL4_uc004efa.2_Silent_p.S369S	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	369						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						TGCTGCTTTCTTACATCAGAC	0.413												
NAP1L3	4675	broad.mit.edu	37	X	92927344	92927344	+	Silent	SNP	C	C	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chrX:92927344C>T	uc004efq.2	-	1	1265	c.960G>A	c.(958-960)AAG>AAA	p.K320K	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	320					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						TGTCAACATTCTTTAAAACAA	0.438												
NRK	203447	broad.mit.edu	37	X	105190451	105190451	+	Missense_Mutation	SNP	A	A	C			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chrX:105190451A>C	uc004emd.2	+	26	4651	c.4348A>C	c.(4348-4350)AAG>CAG	p.K1450Q	NRK_uc011msi.1_5'Flank	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1450	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						GACCCTGCCAAAGAATGTAAG	0.348										HNSCC(51;0.14)		
SPANXN3	139067	broad.mit.edu	37	X	142596856	142596856	+	Missense_Mutation	SNP	G	G	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chrX:142596856G>T	uc004fbw.2	-	2	302	c.214C>A	c.(214-216)CAG>AAG	p.Q72K		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	SPANX-N3 protein	72										ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGGACTGTTCATTCTCC	0.388												
AFF2	2334	broad.mit.edu	37	X	147743836	147743836	+	Missense_Mutation	SNP	C	C	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chrX:147743836C>A	uc004fcp.2	+	3	1067	c.588C>A	c.(586-588)TTC>TTA	p.F196L	AFF2_uc004fco.2_Missense_Mutation_p.F192L|AFF2_uc004fcq.2_Missense_Mutation_p.F192L|AFF2_uc004fcr.2_Missense_Mutation_p.F192L|AFF2_uc011mxb.1_Missense_Mutation_p.F196L|AFF2_uc004fcs.2_Missense_Mutation_p.F192L	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	196					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAAGACTTCTTTGTCTACC	0.483												
FLNA	2316	broad.mit.edu	37	X	153592921	153592921	+	Silent	SNP	G	G	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chrX:153592921G>A	uc004fkk.2	-	13	2244	c.1995C>T	c.(1993-1995)GAC>GAT	p.D665D	FLNA_uc010nuu.1_Silent_p.D665D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	665					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGGGCGCGTCACGGATGT	0.622												
ZNF267	10308	broad.mit.edu	37	16	31926651	31926652	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr16:31926651_31926652insT	uc002ecs.3	+	4	1290_1291	c.1081_1082insT	c.(1081-1083)CTTfs	p.L361fs		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	361					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						GGTCTTTAACCTTAACTGTAGT	0.371												
CNOT3	4849	broad.mit.edu	37	19	54659088	54659090	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr19:54659088_54659090delGAA	uc002qdj.1	+	18	2516_2518	c.2205_2207delGAA	c.(2203-2208)CGGAAG>CGG	p.K737del	CNOT3_uc002qdi.2_3'UTR|CNOT3_uc002qdk.1_In_Frame_Del_p.K737del|CNOT3_uc010ere.1_RNA	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	737					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGGCCAGCGGAAGAAGGAAGGC	0.635												
NKAPL	222698	broad.mit.edu	37	6	28227881	28227882	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr6:28227881_28227882insA	uc003nkt.2	+	1	784_785	c.732_733insA	c.(730-735)ACCAAAfs	p.T244fs	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	244_245	Lys-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						ataagaaAACCAAAAAAGAATC	0.292												
NKAPL	222698	broad.mit.edu	37	6	28227882	28227883	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr6:28227881_28227882C>CA	uc003nkt.3	+	0	784_785	c.732_733C>CA	c.(730-735)accaaafs	p.T244fs	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	244	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						ataagaaAACCAAAAAAGAATC	0.351												
CUBN	8029	broad.mit.edu	37	10	17165610	17165611	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr10:17165609_17165610C>CA	uc001ioo.3	-	4	518_519	c.466_467G>TG	c.(466-468)tgtfs	p.C156fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	156	EGF-like 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGGACAGATACAAAAAAAGGAA	0.436												
ZNF267	10308	broad.mit.edu	37	16	31926652	31926653	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IN-8663-01A-11D-2394-08	TCGA-IN-8663-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d623764-e721-4047-95f9-0dd043773c44	4a5a7732-c13b-4cc3-8243-02024427c433	g.chr16:31926651_31926652C>CT	uc002ecs.4	+	3	1290_1291	c.1081_1082C>CT	c.(1081-1083)cttfs	p.L361fs		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	361					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GGTCTTTAACCTTAACTGTAGT	0.371												
