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
UBE4B	10277	broad.mit.edu	37	1	10166514	10166514	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:10166514G>A	uc001aqs.3	+	7	1782	c.1069G>A	c.(1069-1071)GCC>ACC	p.A357T	UBE4B_uc001aqr.3_Intron|UBE4B_uc010oai.1_Intron|UBE4B_uc010oaj.1_Intron	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	357					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCCTGCCCTCGCCAGTAGCCC	0.672												
KIF1B	23095	broad.mit.edu	37	1	10399850	10399850	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:10399850C>A	uc001aqx.3	+	32	3648	c.3446C>A	c.(3445-3447)GCA>GAA	p.A1149E	KIF1B_uc001aqw.3_Missense_Mutation_p.A1103E|KIF1B_uc001aqy.2_Missense_Mutation_p.A1123E|KIF1B_uc001aqz.2_Missense_Mutation_p.A1149E|KIF1B_uc001ara.2_Missense_Mutation_p.A1109E|KIF1B_uc001arb.2_Missense_Mutation_p.A1135E	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1149					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CATGATGAAGCATTCTCCACG	0.403												
CASZ1	54897	broad.mit.edu	37	1	10715779	10715779	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:10715779G>A	uc001aro.2	-	9	1912	c.1592C>T	c.(1591-1593)CCG>CTG	p.P531L	CASZ1_uc001arp.1_Missense_Mutation_p.P531L|CASZ1_uc009vmx.2_Missense_Mutation_p.P555L	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTCGTCCAGCGGGCTGAAACG	0.612												
MASP2	10747	broad.mit.edu	37	1	11105485	11105485	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:11105485C>T	uc001aru.2	-	4	545	c.524G>A	c.(523-525)CGT>CAT	p.R175H	MASP2_uc001arv.2_Missense_Mutation_p.R175H|MASP2_uc001arw.2_3'UTR|MASP2_uc001arx.1_Missense_Mutation_p.R175H	NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	175	EGF-like; calcium-binding.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCGCTTGTTACGGTGCAGGAC	0.687												
FBXO6	26270	broad.mit.edu	37	1	11728803	11728803	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:11728803G>T	uc001aso.2	+	2	254	c.88G>T	c.(88-90)GCC>TCC	p.A30S		NM_018438	NP_060908	Q9NRD1	FBX6_HUMAN	F-box only protein 6	30	F-box.				DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			lung(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GCACGTGCCCGCCCGCCAGCT	0.642												
PLOD1	5351	broad.mit.edu	37	1	12010421	12010421	+	Missense_Mutation	SNP	G	G	A	rs141809154		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:12010421G>A	uc001atm.2	+	4	401	c.310G>A	c.(310-312)GTG>ATG	p.V104M	PLOD1_uc010obb.1_Missense_Mutation_p.V151M	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	104					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CAGCTATGACGTGCTGTTTGC	0.637												
TMEM51	55092	broad.mit.edu	37	1	15541698	15541698	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:15541698G>A	uc001avw.3	+	3	634	c.115G>A	c.(115-117)GCG>ACG	p.A39T	TMEM51_uc010obk.1_Missense_Mutation_p.A39T|TMEM51_uc001avz.2_Missense_Mutation_p.A39T|TMEM51_uc001avy.2_Missense_Mutation_p.A39T|TMEM51_uc001avx.2_Missense_Mutation_p.A39T	NM_001136216	NP_001129688	Q9NW97	TMM51_HUMAN	transmembrane protein 51	39						integral to membrane					0		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CGGCTTCAGCGCGGCCGAGAA	0.637												
DNAJC16	23341	broad.mit.edu	37	1	15894398	15894398	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:15894398G>A	uc001aws.2	+	15	2195	c.2075G>A	c.(2074-2076)CGT>CAT	p.R692H	DNAJC16_uc001awt.2_Missense_Mutation_p.R380H|DNAJC16_uc001awu.2_RNA	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	692	Extracellular (Potential).				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTCATGGAGCGTGACTACACT	0.443												
CROCC	9696	broad.mit.edu	37	1	17295652	17295652	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:17295652C>T	uc001azt.2	+	32	5187	c.5118C>T	c.(5116-5118)ACC>ACT	p.T1706T	CROCC_uc001azu.2_Silent_p.T1009T|CROCC_uc001azv.2_Silent_p.T42T	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	1706					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGCAGCTGACCGTGGAGCGGC	0.667												
UBR4	23352	broad.mit.edu	37	1	19513722	19513722	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:19513722C>T	uc001bbi.2	-	13	1572	c.1568G>A	c.(1567-1569)CGG>CAG	p.R523Q		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	523					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTCAATCAGCCGTTGAATCCT	0.483												
KDM1A	23028	broad.mit.edu	37	1	23405511	23405511	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:23405511C>T	uc001bgi.2	+	15	1973	c.1824C>T	c.(1822-1824)CGC>CGT	p.R608R	KDM1A_uc001bgj.2_Silent_p.R632R	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	608	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						TGAATACCCGCTCCACGAGTC	0.488												
WDTC1	23038	broad.mit.edu	37	1	27618840	27618840	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:27618840G>A	uc009vst.2	+	7	1149	c.614G>A	c.(613-615)AGC>AAC	p.S205N	WDTC1_uc001bno.2_Missense_Mutation_p.S205N|WDTC1_uc001bnp.1_RNA	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	205	WD 4.						protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GTTGGGGCCAGCGGGCCCTTC	0.562												
AHDC1	27245	broad.mit.edu	37	1	27875931	27875931	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:27875931G>A	uc009vsy.2	-	6	3665	c.2696C>T	c.(2695-2697)GCA>GTA	p.A899V	AHDC1_uc009vsz.1_Missense_Mutation_p.A899V	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	899							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCTACCCACTGCCACTGGGCT	0.692												
TRIM62	55223	broad.mit.edu	37	1	33623903	33623903	+	Silent	SNP	G	G	A	rs115222802	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:33623903G>A	uc001bxb.2	-	4	1466	c.828C>T	c.(826-828)GGC>GGT	p.G276G		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	276						intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				ACTGCAGGGGGCCTGTGTACT	0.562												
C1orf94	84970	broad.mit.edu	37	1	34677853	34677853	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:34677853C>T	uc001bxs.3	+	6	1396	c.997C>T	c.(997-999)CGC>TGC	p.R333C	C1orf94_uc001bxt.2_Missense_Mutation_p.R523C	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	333							protein binding				0		Myeloproliferative disorder(586;0.0393)				GCAGATCTTCCGCTCTTCCTA	0.488												
THRAP3	9967	broad.mit.edu	37	1	36752298	36752298	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:36752298G>A	uc001cae.3	+	4	691	c.467G>A	c.(466-468)CGC>CAC	p.R156H	THRAP3_uc001caf.3_Missense_Mutation_p.R156H|THRAP3_uc001cag.1_Missense_Mutation_p.R156H	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	156	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGTCAAGGCGCTCCTCATCC	0.527			T	USP6	aneurysmal bone cysts							
GRIK3	2899	broad.mit.edu	37	1	37316021	37316021	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:37316021C>A	uc001caz.2	-	9	1352	c.1217G>T	c.(1216-1218)GGG>GTG	p.G406V	GRIK3_uc001cba.1_Missense_Mutation_p.G406V	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	406	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ACTCCACACCCCAACCTGGAT	0.512												
GUCA2A	2980	broad.mit.edu	37	1	42629124	42629124	+	Missense_Mutation	SNP	A	A	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:42629124A>T	uc001chd.1	-	2	245	c.233T>A	c.(232-234)CTC>CAC	p.L78H		NM_033553	NP_291031	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A precursor	78					signal transduction	extracellular region	guanylate cyclase activator activity|hormone activity			pancreas(1)	1	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGCTTGAGTTCTTCTGG	0.562												
LEPRE1	64175	broad.mit.edu	37	1	43215937	43215937	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:43215937C>T	uc001chv.2	-	11	1753	c.1640G>A	c.(1639-1641)CGC>CAC	p.R547H	LEPRE1_uc001chw.2_Missense_Mutation_p.R547H|LEPRE1_uc001chx.3_Missense_Mutation_p.R547H	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	547					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTCCATGATGCGCCGCACCTT	0.582												
ERMAP	114625	broad.mit.edu	37	1	43305712	43305712	+	Missense_Mutation	SNP	C	C	T	rs141803620		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:43305712C>T	uc001cic.1	+	9	916	c.646C>T	c.(646-648)CGG>TGG	p.R216W	ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Missense_Mutation_p.R216W|ERMAP_uc001cif.1_Missense_Mutation_p.R126W	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein	216	Cytoplasmic (Potential).		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				ovary(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGAGAAACTCCGGAGTGAACT	0.443												
SLC2A1	6513	broad.mit.edu	37	1	43394615	43394615	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:43394615C>T	uc001cik.2	-	8	1587	c.1062G>A	c.(1060-1062)GCG>GCA	p.A354A		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	354	Helical; Name=9; (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GCAGTGCTAGCGCGATGGTCA	0.607												
IPO13	9670	broad.mit.edu	37	1	44415613	44415613	+	Silent	SNP	G	G	A	rs150416503	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:44415613G>A	uc001ckx.2	+	2	1404	c.609G>A	c.(607-609)CCG>CCA	p.P203P		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	203	HEAT 2.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTGTCTTCCCGCTGCTGGAGC	0.637												
RNF220	55182	broad.mit.edu	37	1	45116433	45116433	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:45116433A>G	uc001clv.1	+	15	2047	c.1687A>G	c.(1687-1689)AGG>GGG	p.R563G	RNF220_uc001clw.1_Missense_Mutation_p.R563G|RNF220_uc010oky.1_Missense_Mutation_p.R350G|RNF220_uc010okz.1_3'UTR|RNF220_uc001clx.1_Missense_Mutation_p.R279G|RNF220_uc001cly.1_Missense_Mutation_p.R243G|RNF220_uc001clz.1_Missense_Mutation_p.R242G|RNF220_uc001cma.1_3'UTR|TMEM53_uc001cmb.1_Intron	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	563					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						AGACCTGCGGAGGATCTACTT	0.602												
PTCH2	8643	broad.mit.edu	37	1	45292921	45292921	+	Missense_Mutation	SNP	C	C	T	rs112613379	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:45292921C>T	uc010olf.1	-	16	2444	c.2432G>A	c.(2431-2433)CGC>CAC	p.R811H	PTCH2_uc010olg.1_Missense_Mutation_p.R509H	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	811	Extracellular (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGAGCCATTGCGGTACGAGTG	0.622									Basal_Cell_Nevus_syndrome			
STIL	6491	broad.mit.edu	37	1	47717280	47717280	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:47717280C>T	uc001crc.1	-	17	3547	c.3392G>A	c.(3391-3393)AGC>AAC	p.S1131N	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S1085N|STIL_uc010omo.1_Missense_Mutation_p.S1114N|STIL_uc001crd.1_Missense_Mutation_p.S1132N|STIL_uc001cre.1_Missense_Mutation_p.S1131N	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1131					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATTGTCACTGCTTTGTAGGAG	0.378												
LRP8	7804	broad.mit.edu	37	1	53720817	53720817	+	Silent	SNP	G	G	A	rs146836225		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:53720817G>A	uc001cvi.1	-	16	2617	c.2475C>T	c.(2473-2475)GCC>GCT	p.A825A	LRP8_uc001cvh.1_Silent_p.A378A|LRP8_uc001cvk.1_Silent_p.A655A|LRP8_uc001cvj.1_Silent_p.A825A|LRP8_uc001cvl.1_Silent_p.A621A|LRP8_uc001cvm.1_Silent_p.A410A	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	825	Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						CGATAACAGCGGCAGTGACTG	0.512												
C1orf175	374977	broad.mit.edu	37	1	55119766	55119766	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:55119766G>A	uc010ooe.1	+	3	1491	c.1167G>A	c.(1165-1167)CCG>CCA	p.P389P	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Silent_p.P389P|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.P389P|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	389						integral to membrane	binding				0						GCCAGTTCCCGCTGGGATTCC	0.602												
C1orf175	374977	broad.mit.edu	37	1	55139382	55139382	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:55139382G>A	uc010ooe.1	+	9	2028	c.1704G>A	c.(1702-1704)GGG>GGA	p.G568G	C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Silent_p.G136G|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.G86G|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.G568G|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	568						integral to membrane	binding				0						AGGCCCTGGGGCCTTGGATGA	0.547												
DOCK7	85440	broad.mit.edu	37	1	63008278	63008278	+	Splice_Site	SNP	C	C	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:63008278C>G	uc001daq.2	-	25	3079	c.3045_splice	c.e25+1	p.M1015_splice	DOCK7_uc001dan.2_Splice_Site_p.M876_splice|DOCK7_uc001dao.2_Splice_Site_p.M876_splice|DOCK7_uc001dap.2_Splice_Site_p.M984_splice|DOCK7_uc001dam.2_Splice_Site_p.M195_splice	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7						activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						TTTTTGCTCACCATTAATTCA	0.383												
ROR1	4919	broad.mit.edu	37	1	64515507	64515507	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:64515507G>A	uc001dbj.2	+	3	707	c.308G>A	c.(307-309)CGG>CAG	p.R103Q	ROR1_uc001dbi.3_Missense_Mutation_p.R103Q	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	103	Ig-like C2-type.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						CAGGAGCCCCGGAGGCTCTCC	0.572												
DEPDC1	55635	broad.mit.edu	37	1	68944833	68944833	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:68944833C>T	uc001dem.3	-	10	2223	c.2106G>A	c.(2104-2106)AAG>AAA	p.K702K	DEPDC1_uc001dej.3_Silent_p.K70K|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Silent_p.K418K	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	702					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TTACATGTCCCTTTTTTAAGT	0.239												
LRRC7	57554	broad.mit.edu	37	1	70504369	70504369	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:70504369G>A	uc001dep.2	+	19	2778	c.2748G>A	c.(2746-2748)CCG>CCA	p.P916P	LRRC7_uc009wbg.2_Silent_p.P200P|LRRC7_uc001deq.2_Silent_p.P157P	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	916						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						ACTGCCGCCCGGAATCTTCTA	0.398												
HHLA3	11147	broad.mit.edu	37	1	70820864	70820864	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:70820864C>T	uc001dfa.2	+	1	372	c.230C>T	c.(229-231)GCC>GTC	p.A77V	ANKRD13C_uc001dex.3_5'Flank|ANKRD13C_uc009wbk.2_5'Flank|ANKRD13C_uc001dey.3_5'Flank|HHLA3_uc010oqp.1_Intron|HHLA3_uc001dfb.2_Intron|HHLA3_uc001dfc.2_Intron	NM_001036645	NP_001031722	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3 isoform 2	77							protein binding				0						ggaatgaaggccaaacaatta	0.214												
PTGER3	5733	broad.mit.edu	37	1	71513128	71513128	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:71513128C>T	uc001dfg.1	-	1	364	c.133G>A	c.(133-135)GAG>AAG	p.E45K	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.E45K|PTGER3_uc001dfl.1_Missense_Mutation_p.E45K|PTGER3_uc009wbm.1_Missense_Mutation_p.E45K|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.E45K|PTGER3_uc009wbn.1_Missense_Mutation_p.E45K|PTGER3_uc009wbo.2_Missense_Mutation_p.E45K|PTGER3_uc001dfo.2_Missense_Mutation_p.E45K|PTGER3_uc001dfp.1_Missense_Mutation_p.E45K|PTGER3_uc001dfq.2_Missense_Mutation_p.E45K|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	45	Extracellular (Potential).				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	CCGCAATCCTCGCCAGACCCT	0.677												
C1orf173	127254	broad.mit.edu	37	1	75038995	75038995	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:75038995T>C	uc001dgg.2	-	14	2618	c.2399A>G	c.(2398-2400)GAA>GGA	p.E800G		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	800	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						AGCTCCTGCTTCTCCCCACAG	0.522												
COL24A1	255631	broad.mit.edu	37	1	86554903	86554903	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:86554903T>C	uc001dlj.2	-	7	1703	c.1661A>G	c.(1660-1662)CAA>CGA	p.Q554R	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.Q554R	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	554	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGAAAGGCCTTGATCACCCTA	0.289												
VCAM1	7412	broad.mit.edu	37	1	101203814	101203814	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:101203814T>C	uc001dti.2	+	9	2315	c.2195T>C	c.(2194-2196)GTA>GCA	p.V732A	VCAM1_uc001dtj.2_Missense_Mutation_p.V640A|VCAM1_uc010ouj.1_Missense_Mutation_p.V670A	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	732	Cytoplasmic (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TATAGTCTTGTAGAAGCACAG	0.378												
CELSR2	1952	broad.mit.edu	37	1	109810548	109810548	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:109810548G>A	uc001dxa.3	+	17	6245	c.6184G>A	c.(6184-6186)GCC>ACC	p.A2062T		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2062	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCTGCGCAACGCCACGCAGCA	0.672												
AMPD2	271	broad.mit.edu	37	1	110171328	110171328	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:110171328G>A	uc009wfh.1	+	13	2175	c.1633G>A	c.(1633-1635)GGG>AGG	p.G545R	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.G464R|AMPD2_uc001dyc.1_Missense_Mutation_p.G545R|AMPD2_uc010ovr.1_Missense_Mutation_p.G470R|AMPD2_uc001dyd.1_Missense_Mutation_p.G426R|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	545					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTCCATTTACGGGCGCTCGAG	0.617												
SLC6A17	388662	broad.mit.edu	37	1	110734624	110734624	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:110734624C>T	uc009wfq.2	+	7	1356	c.895C>T	c.(895-897)CGG>TGG	p.R299W	SLC6A17_uc001dze.1_5'Flank	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	299	Extracellular (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CCAGGTGTGGCGGGAGGCAGC	0.542												
ATP1A1	476	broad.mit.edu	37	1	116932304	116932304	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:116932304C>T	uc001ege.2	+	8	1337	c.998C>T	c.(997-999)CCG>CTG	p.P333L	ATP1A1_uc010owv.1_Missense_Mutation_p.P302L|ATP1A1_uc010oww.1_Missense_Mutation_p.P333L|ATP1A1_uc010owx.1_Missense_Mutation_p.P302L	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	333	Helical; (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GCCAATGTGCCGGAAGGTTTG	0.502												
CD101	9398	broad.mit.edu	37	1	117560078	117560078	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:117560078T>A	uc010oxb.1	+	5	1653	c.1595T>A	c.(1594-1596)GTT>GAT	p.V532D	CD101_uc009whd.2_Missense_Mutation_p.V532D|CD101_uc010oxc.1_Missense_Mutation_p.V532D|CD101_uc010oxd.1_Missense_Mutation_p.V470D	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	532	Extracellular (Potential).				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						AAGATTTCAGTTACTGTAAAG	0.458												
TRIM45	80263	broad.mit.edu	37	1	117656107	117656107	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:117656107C>A	uc001egz.2	-	5	2056	c.1468G>T	c.(1468-1470)GGC>TGC	p.G490C	TRIM45_uc009whe.2_Missense_Mutation_p.G472C|TRIM45_uc001eha.2_Missense_Mutation_p.G386C	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	490	Filamin.					cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		AATGGCGAGCCCTGCAGTGTT	0.552												
NOTCH2	4853	broad.mit.edu	37	1	120484286	120484286	+	Silent	SNP	T	T	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:120484286T>G	uc001eik.2	-	18	3100	c.2844A>C	c.(2842-2844)ACA>ACC	p.T948T	NOTCH2_uc001eil.2_Silent_p.T948T	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	948	Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATTCATGTCTGTCTGGCACT	0.498			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome			
ITGA10	8515	broad.mit.edu	37	1	145532147	145532147	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:145532147G>A	uc001eoa.2	+	8	867	c.791G>A	c.(790-792)CGA>CAA	p.R264Q	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R133Q|ITGA10_uc009wiw.2_Missense_Mutation_p.R121Q|ITGA10_uc010oyw.1_Missense_Mutation_p.R209Q	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	264	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATGGGGGCCGACCCGAGGCT	0.488												
MTMR11	10903	broad.mit.edu	37	1	149903217	149903217	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:149903217G>A	uc001etl.3	-	13	1476	c.1225C>T	c.(1225-1227)CGA>TGA	p.R409*	SF3B4_uc001etk.1_5'Flank|MTMR11_uc001etm.1_Nonsense_Mutation_p.R337*|MTMR11_uc010pbm.1_Intron|MTMR11_uc010pbn.1_Missense_Mutation_p.A235V	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	409	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACCCACTCTCGCTGTACTAGT	0.577												
POGZ	23126	broad.mit.edu	37	1	151378237	151378237	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:151378237T>C	uc001eyd.1	-	19	3580	c.3274A>G	c.(3274-3276)ACC>GCC	p.T1092A	POGZ_uc001eye.1_Missense_Mutation_p.T1039A|POGZ_uc010pdb.1_Missense_Mutation_p.T1083A|POGZ_uc001eyf.1_Missense_Mutation_p.T1048A|POGZ_uc010pdc.1_Missense_Mutation_p.T1030A|POGZ_uc009wmv.1_Missense_Mutation_p.T997A|POGZ_uc010pdd.1_Missense_Mutation_p.T583A	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1092				TLPKDVAENAGLFIDF -> PTLLFCLFVFSSPSTL (in Ref. 4; BAB87117/BAE45744).	cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTAGGTAGGGTGTGGGCCACA	0.517												
LCE1C	353133	broad.mit.edu	37	1	152777634	152777634	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:152777634G>A	uc001fap.1	-	2	372	c.321C>T	c.(319-321)GGC>GGT	p.G107G		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	107	Gly-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTCCCCCCGCCACAGCAGC	0.662												
RUSC1	23623	broad.mit.edu	37	1	155291851	155291851	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:155291851C>T	uc001fkj.2	+	2	516	c.287C>T	c.(286-288)TCT>TTT	p.S96F	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.S96F|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	96						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GGGGCTGCCTCTCCCTCAGAC	0.632												
YY1AP1	55249	broad.mit.edu	37	1	155646486	155646486	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:155646486C>A	uc001fln.2	-	5	399	c.375G>T	c.(373-375)AAG>AAT	p.K125N	YY1AP1_uc010pgg.1_Translation_Start_Site|YY1AP1_uc010pgh.1_Missense_Mutation_p.K48N|YY1AP1_uc010pgi.1_Missense_Mutation_p.K197N|YY1AP1_uc001flh.2_Missense_Mutation_p.K197N|YY1AP1_uc009wqt.2_Missense_Mutation_p.K48N|YY1AP1_uc001flk.2_Missense_Mutation_p.K48N|YY1AP1_uc001fll.2_Missense_Mutation_p.K59N|YY1AP1_uc009wqv.2_Translation_Start_Site|YY1AP1_uc001flm.2_Missense_Mutation_p.K48N|YY1AP1_uc001fli.2_Missense_Mutation_p.K59N|YY1AP1_uc009wqu.2_Translation_Start_Site|YY1AP1_uc001flj.2_Missense_Mutation_p.K59N|YY1AP1_uc009wqw.2_Missense_Mutation_p.K48N|YY1AP1_uc001flo.2_Translation_Start_Site|YY1AP1_uc001flp.2_Missense_Mutation_p.K59N|YY1AP1_uc010pgj.1_Missense_Mutation_p.K125N|YY1AP1_uc009wqx.2_Missense_Mutation_p.K197N|YY1AP1_uc010pgk.1_Missense_Mutation_p.K197N	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	125					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CAAATAGTTCCTTCGCTATCT	0.438												
RXFP4	339403	broad.mit.edu	37	1	155911816	155911816	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:155911816C>A	uc010pgs.1	+	1	337	c.316C>A	c.(316-318)CAC>AAC	p.H106N		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	relaxin 3 receptor 2	106	Extracellular (Potential).					integral to membrane|plasma membrane	angiotensin type II receptor activity				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACTGGACTTTCACTGGCCCTT	0.602												
FCRL5	83416	broad.mit.edu	37	1	157494244	157494244	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:157494244T>C	uc001fqu.2	-	10	2222	c.2064A>G	c.(2062-2064)CCA>CCG	p.P688P	FCRL5_uc009wsm.2_Silent_p.P688P|FCRL5_uc010phv.1_Silent_p.P688P|FCRL5_uc010phw.1_Silent_p.P603P	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	688	Extracellular (Potential).|Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGTACAGGATTGGGGAGGAGC	0.577												
OR6Y1	391112	broad.mit.edu	37	1	158517497	158517497	+	Missense_Mutation	SNP	A	A	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:158517497A>T	uc010pil.1	-	1	399	c.399T>A	c.(397-399)AAT>AAA	p.N133K		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AGCGTAGTGGATTACAAATGG	0.468												
ATP1A4	480	broad.mit.edu	37	1	160146025	160146025	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:160146025G>A	uc001fve.3	+	16	2934	c.2455G>A	c.(2455-2457)GGC>AGC	p.G819S	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.G322S|ATP1A4_uc001fvh.2_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	819	Helical; (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATTGATCTCGGCACTGACAT	0.522												
ARHGAP30	257106	broad.mit.edu	37	1	161017809	161017809	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:161017809A>G	uc001fxl.2	-	12	3348	c.3002T>C	c.(3001-3003)GTG>GCG	p.V1001A	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Missense_Mutation_p.V790A|ARHGAP30_uc001fxm.2_Missense_Mutation_p.V847A|ARHGAP30_uc009wtx.2_Missense_Mutation_p.V674A	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	1001					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGCTAGGGCCACAGCAGCATC	0.607												
C1orf192	257177	broad.mit.edu	37	1	161334773	161334773	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:161334773T>C	uc001gal.2	-	5	522	c.516A>G	c.(514-516)CAA>CAG	p.Q172Q		NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	hypothetical protein LOC257177	172											0	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGCTGGTCTTTGGGGACCTG	0.522												
FCRLA	84824	broad.mit.edu	37	1	161681834	161681834	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:161681834C>T	uc001gbe.2	+	5	921	c.679C>T	c.(679-681)CGC>TGC	p.R227C	FCRLA_uc001gbd.2_Missense_Mutation_p.R221C|FCRLA_uc001gbf.2_Missense_Mutation_p.R132C|FCRLA_uc001gbg.2_Missense_Mutation_p.R81C|FCRLA_uc009wuo.2_Missense_Mutation_p.R87C|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	204	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GTCAGCTGCCCGCCTCCTCTT	0.562												
SELP	6403	broad.mit.edu	37	1	169581513	169581513	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:169581513C>T	uc001ggi.3	-	6	968	c.903G>A	c.(901-903)CCG>CCA	p.P301P	SELP_uc001ggh.2_Silent_p.P136P|SELP_uc009wvr.2_Silent_p.P301P	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	301	Extracellular (Potential).|Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GCACCACTTCCGGTCCAACTA	0.507												
PRRX1	5396	broad.mit.edu	37	1	170688909	170688909	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:170688909G>A	uc001ghf.2	+	2	331	c.284G>A	c.(283-285)CGA>CAA	p.R95Q	PRRX1_uc001ghe.2_Missense_Mutation_p.R95Q	NM_022716	NP_073207	P54821	PRRX1_HUMAN	paired mesoderm homeobox 1 isoform pmx-1b	95	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAAAGCAGCGAAGGAATAGG	0.458												
C1orf9	51430	broad.mit.edu	37	1	172569271	172569271	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:172569271C>T	uc001giq.3	+	20	3297	c.2981C>T	c.(2980-2982)TCA>TTA	p.S994L	C1orf9_uc010pmm.1_Missense_Mutation_p.S994L|C1orf9_uc009wwd.2_Missense_Mutation_p.S950L|C1orf9_uc010pmn.1_Missense_Mutation_p.S623L|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	994	Potential.				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		CAGCTTGTTTCAAATTTATCA	0.403												
CACNA1E	777	broad.mit.edu	37	1	181732633	181732633	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:181732633G>A	uc001gow.2	+	34	4946	c.4781G>A	c.(4780-4782)CGC>CAC	p.R1594H	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1482H|CACNA1E_uc001gox.1_Missense_Mutation_p.R820H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R820H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1594	Cytoplasmic (Potential).|IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TATACCATACGCATTTTGCTG	0.512												
NCF2	4688	broad.mit.edu	37	1	183534904	183534904	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:183534904G>T	uc001gqj.3	-	10	1210	c.935C>A	c.(934-936)TCT>TAT	p.S312Y	NCF2_uc010pod.1_Missense_Mutation_p.S267Y|NCF2_uc010poe.1_Missense_Mutation_p.S231Y|NCF2_uc001gqk.3_Missense_Mutation_p.S312Y	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	312					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3						GGACTGCGGAGAGCTTTCCTC	0.592												
HMCN1	83872	broad.mit.edu	37	1	186092099	186092099	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:186092099C>T	uc001grq.1	+	81	12475	c.12246C>T	c.(12244-12246)AGC>AGT	p.S4082S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4082	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CAGTCATTAGCCCTCATCTAA	0.398												
HMCN1	83872	broad.mit.edu	37	1	186097347	186097347	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:186097347G>T	uc001grq.1	+	83	13057	c.12828G>T	c.(12826-12828)CAG>CAT	p.Q4276H	HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4276	Ig-like C2-type 42.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AAGGAGAACAGCTACGATTAA	0.403												
C1orf27	54953	broad.mit.edu	37	1	186368120	186368120	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:186368120A>G	uc001grw.2	+	11	1180	c.944A>G	c.(943-945)GAT>GGT	p.D315G	C1orf27_uc010poq.1_Missense_Mutation_p.D292G|C1orf27_uc010por.1_Missense_Mutation_p.D283G|OCLM_uc001gry.2_5'Flank	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	odorant response abnormal 4 isoform 1	315						integral to membrane	oxidoreductase activity|zinc ion binding			ovary(1)	1						ACAGTTGCTGATCGTTGTGAA	0.294												
NEK7	140609	broad.mit.edu	37	1	198231732	198231732	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:198231732C>T	uc001gun.3	+	4	553	c.226C>T	c.(226-228)CGT>TGT	p.R76C		NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	76	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|lung(1)|ovary(1)	4						TGCCAAAGCACGTGCTGATTG	0.279												
ELF3	1999	broad.mit.edu	37	1	201981273	201981273	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:201981273G>T	uc001gxg.3	+	2	3544	c.352G>T	c.(352-354)GGG>TGG	p.G118W	ELF3_uc001gxi.3_Missense_Mutation_p.G118W|ELF3_uc001gxh.3_Missense_Mutation_p.G118W	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	118	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						TGGGCCTCTGGGGGACCAACT	0.607												
ATP2B4	493	broad.mit.edu	37	1	203682345	203682345	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:203682345G>A	uc001gzw.2	+	14	3148	c.2264G>A	c.(2263-2265)CGA>CAA	p.R755Q	ATP2B4_uc001gzv.2_Missense_Mutation_p.R755Q|ATP2B4_uc009xaq.2_Missense_Mutation_p.R755Q	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	755	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCCTGGCGCGATCTTCTCCC	0.537												
SRGAP2	23380	broad.mit.edu	37	1	206628370	206628370	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:206628370A>G	uc001hdy.2	+	18	2579	c.2246A>G	c.(2245-2247)AAG>AGG	p.K749R	SRGAP2_uc001hdx.2_Missense_Mutation_p.K749R|SRGAP2_uc010pru.1_Missense_Mutation_p.K672R	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	836					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					AACATCAACAAGTAAGCTCTG	0.527												
PFKFB2	5208	broad.mit.edu	37	1	207238492	207238492	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:207238492G>A	uc001hfg.2	+	8	728	c.619G>A	c.(619-621)GAC>AAC	p.D207N	PFKFB2_uc010psc.1_Missense_Mutation_p.D109N|PFKFB2_uc001hfh.2_Missense_Mutation_p.D207N|PFKFB2_uc009xcc.2_Missense_Mutation_p.D165N|PFKFB2_uc010psd.1_Missense_Mutation_p.D21N	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	207	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)					TCTTGACCCAGACAACTATGA	0.453												
C1orf115	79762	broad.mit.edu	37	1	220869960	220869960	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:220869960G>A	uc001hmp.1	+	2	433	c.316G>A	c.(316-318)GGG>AGG	p.G106R		NM_024709	NP_078985	Q9H7X2	CA115_HUMAN	hypothetical protein LOC79762	106						integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0273)		CTAGAATGTCGGGAAGGTCAT	0.488												
NVL	4931	broad.mit.edu	37	1	224455820	224455820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:224455820G>A	uc001hok.2	-	18	2141	c.2098C>T	c.(2098-2100)CGA>TGA	p.R700*	NVL_uc001hol.2_Nonsense_Mutation_p.R594*|NVL_uc010pvd.1_Nonsense_Mutation_p.R609*|NVL_uc010pve.1_Nonsense_Mutation_p.R511*|NVL_uc010pvf.1_Intron	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	700						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)		TTCACCACTCGGACACTTGCC	0.398												
CDC42BPA	8476	broad.mit.edu	37	1	227348291	227348291	+	Missense_Mutation	SNP	G	G	A	rs35643738		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:227348291G>A	uc001hqr.2	-	6	1589	c.646C>T	c.(646-648)CGG>TGG	p.R216W	CDC42BPA_uc001hqs.2_Missense_Mutation_p.R216W|CDC42BPA_uc009xes.2_Missense_Mutation_p.R216W|CDC42BPA_uc010pvs.1_Missense_Mutation_p.R216W	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	216	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTGCTAACCGAATATGTCCA	0.294												
JMJD4	65094	broad.mit.edu	37	1	227922492	227922492	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:227922492G>A	uc001hrb.2	-	2	426	c.426C>T	c.(424-426)AAC>AAT	p.N142N	SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|JMJD4_uc001hrc.2_Silent_p.N142N	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4 isoform 1	142											0		Prostate(94;0.0885)				GGACCCCACAGTTTGCAACTG	0.537												
GUK1	2987	broad.mit.edu	37	1	228335202	228335202	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:228335202G>A	uc001hsh.2	+	6	650	c.347G>A	c.(346-348)CGG>CAG	p.R116Q	GUK1_uc001hsi.2_Missense_Mutation_p.R137Q|GUK1_uc001hsj.2_Missense_Mutation_p.R56Q|GUK1_uc010pvv.1_Missense_Mutation_p.R116Q|GJC2_uc001hsk.2_5'Flank	NM_000858	NP_000849	Q16774	KGUA_HUMAN	guanylate kinase 1 isoform b	116	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity				0		Prostate(94;0.0405)				ACCGATCTGCGGCCCATCTAC	0.657												
OBSCN	84033	broad.mit.edu	37	1	228468013	228468013	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:228468013C>T	uc009xez.1	+	29	7841	c.7797C>T	c.(7795-7797)AAC>AAT	p.N2599N	OBSCN_uc001hsn.2_Silent_p.N2599N|OBSCN_uc001hsp.1_Silent_p.N298N|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2599	Ig-like 25.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCCTGTACAACGACAGCTTCC	0.627												
OBSCN	84033	broad.mit.edu	37	1	228564810	228564810	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:228564810C>T	uc009xez.1	+	101	23141	c.23097C>T	c.(23095-23097)GCC>GCT	p.A7699A	OBSCN_uc001hsr.1_Silent_p.A2328A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7699	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GGGCGCTGGCCGCCAAGATCA	0.697												
SIPA1L2	57568	broad.mit.edu	37	1	232581405	232581405	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:232581405G>A	uc001hvg.2	-	9	3381	c.3223C>T	c.(3223-3225)CAG>TAG	p.Q1075*	SIPA1L2_uc001hvf.2_Nonsense_Mutation_p.Q149*	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1075					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAGAGGGGCTGCAGGGCAGGA	0.642												
SLC35F3	148641	broad.mit.edu	37	1	234367256	234367256	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:234367256C>T	uc001hwa.1	+	2	398	c.170C>T	c.(169-171)ACG>ATG	p.T57M	SLC35F3_uc001hvy.1_Missense_Mutation_p.T126M	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	57					transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGCTGCTGGACGTGCTCCCGG	0.751												
RYR2	6262	broad.mit.edu	37	1	237923126	237923126	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:237923126C>T	uc001hyl.1	+	83	11496	c.11376C>T	c.(11374-11376)AGC>AGT	p.S3792S	RYR2_uc010pya.1_Silent_p.S207S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3792					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTTTCAGAGCCTGGCCGGCC	0.428												
FH	2271	broad.mit.edu	37	1	241680522	241680522	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:241680522G>A	uc001hyx.2	-	2	259	c.227C>T	c.(226-228)ACG>ATG	p.T76M		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	76					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AAAGTTCATCGTAGATCTCAC	0.423			Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer			
OR2G6	391211	broad.mit.edu	37	1	248685355	248685355	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:248685355G>A	uc001ien.1	+	1	408	c.408G>A	c.(406-408)ATG>ATA	p.M136I		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAGCCATTATGCACCCCAGGT	0.597												
SH3BP5L	80851	broad.mit.edu	37	1	249108743	249108743	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:249108743G>A	uc001iew.1	-	5	994	c.442C>T	c.(442-444)CGA>TGA	p.R148*	SH3BP5L_uc010pzp.1_Nonsense_Mutation_p.R41*|SH3BP5L_uc010pzq.1_Nonsense_Mutation_p.R116*|SH3BP5L_uc001iev.1_Nonsense_Mutation_p.R29*	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	148											0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACCATTTCTCGAGCAGCGTTG	0.602												
ADARB2	105	broad.mit.edu	37	10	1279636	1279636	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:1279636G>A	uc009xhq.2	-	6	1887	c.1513C>T	c.(1513-1515)CTG>TTG	p.L505L		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	505	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GGTCTCTTACGGTCTGTGGTG	0.592												
KLF6	1316	broad.mit.edu	37	10	3823983	3823983	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:3823983G>A	uc001iha.2	-	2	793	c.526C>T	c.(526-528)CGC>TGC	p.R176C	KLF6_uc010qaj.1_Missense_Mutation_p.R176C|KLF6_uc010qak.1_Intron|KLF6_uc010qal.1_Missense_Mutation_p.R176C|KLF6_uc001ihb.2_Missense_Mutation_p.R176C	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	176					B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)		GTCCCGCTGCGCACCTTCCCT	0.647											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NET1	10276	broad.mit.edu	37	10	5496975	5496975	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:5496975A>G	uc001iia.2	+	10	1229	c.1091A>G	c.(1090-1092)TAT>TGT	p.Y364C	NET1_uc010qar.1_Missense_Mutation_p.Y183C|NET1_uc001iib.2_Missense_Mutation_p.Y310C|NET1_uc010qas.1_Missense_Mutation_p.Y183C	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	364					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1						GAGTGCCAGTATTACATCGAC	0.458												
ITIH5	80760	broad.mit.edu	37	10	7708805	7708805	+	Silent	SNP	C	C	T	rs149614899		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:7708805C>T	uc001ijq.2	-	1	130	c.51G>A	c.(49-51)TCG>TCA	p.S17S	ITIH5_uc001ijr.1_Silent_p.S17S	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	17					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CCTCTTCCTGCGACCCCACAC	0.597												
DCLRE1C	64421	broad.mit.edu	37	10	14961737	14961737	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:14961737C>A	uc001inn.2	-	13	1241	c.1156G>T	c.(1156-1158)GAG>TAG	p.E386*	DCLRE1C_uc010qbx.1_Missense_Mutation_p.G386W|DCLRE1C_uc001ink.2_Nonsense_Mutation_p.E39*|DCLRE1C_uc001inl.2_Nonsense_Mutation_p.E266*|DCLRE1C_uc009xji.2_Nonsense_Mutation_p.E271*|DCLRE1C_uc001inm.2_Nonsense_Mutation_p.E266*|DCLRE1C_uc001ino.2_Nonsense_Mutation_p.E271*|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Nonsense_Mutation_p.E266*|DCLRE1C_uc001inq.2_Nonsense_Mutation_p.E266*|DCLRE1C_uc001inr.2_Nonsense_Mutation_p.E271*	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	386					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						TTTTTCTTACCTGAGTCTCGG	0.517								Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ				
CUBN	8029	broad.mit.edu	37	10	16967768	16967768	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:16967768C>T	uc001ioo.2	-	42	6329	c.6277G>A	c.(6277-6279)GGT>AGT	p.G2093S		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2093	CUB 15.				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)	AAATATCCACCGCAGCCTTCC	0.458												
ARMC3	219681	broad.mit.edu	37	10	23287247	23287247	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:23287247G>A	uc001irm.3	+	11	1429	c.1346G>A	c.(1345-1347)CGT>CAT	p.R449H	ARMC3_uc010qcv.1_Missense_Mutation_p.R449H|ARMC3_uc010qcw.1_Missense_Mutation_p.R186H	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	449	ARM 11.						binding				0						AGCCCACTGCGTTCTGCAAAC	0.517												
YME1L1	10730	broad.mit.edu	37	10	27403517	27403517	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:27403517C>T	uc001iti.2	-	19	2293	c.2111G>A	c.(2110-2112)AGT>AAT	p.S704N	YME1L1_uc001itj.2_Missense_Mutation_p.S647N|YME1L1_uc010qdl.1_Missense_Mutation_p.S614N|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	704					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						CCCTGTATCACTGTAGGTCAT	0.333												
ITGB1	3688	broad.mit.edu	37	10	33200585	33200585	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:33200585G>A	uc001iws.3	-	13	1858	c.1722C>T	c.(1720-1722)TGC>TGT	p.C574C	ITGB1_uc001iwp.3_Silent_p.C574C|ITGB1_uc001iwq.3_Silent_p.C574C|ITGB1_uc001iwr.3_Silent_p.C574C|ITGB1_uc001iwt.3_Silent_p.C574C|ITGB1_uc001iwu.1_Silent_p.C574C	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	574	Extracellular (Potential).|III.|Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CACGACACTTGCAAACACCAT	0.398												
CSGALNACT2	55454	broad.mit.edu	37	10	43651044	43651044	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:43651044A>G	uc001jan.2	+	2	782	c.447A>G	c.(445-447)GAA>GAG	p.E149E	CSGALNACT2_uc001jam.1_Silent_p.E149E	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	149	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1						TTCCCTTTGAAAGTTTTACCT	0.403												
ANUBL1	93550	broad.mit.edu	37	10	46121925	46121925	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:46121925A>G	uc001jcp.3	-	7	1588	c.1346T>C	c.(1345-1347)CTG>CCG	p.L449P	ANUBL1_uc001jcl.3_5'UTR|ANUBL1_uc001jcm.3_Missense_Mutation_p.L449P|ANUBL1_uc009xmu.2_Missense_Mutation_p.L375P|ANUBL1_uc001jcn.3_Missense_Mutation_p.L375P|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	449							zinc ion binding				0						TTCCCCATTCAGCACTCCTGC	0.463												
ERCC6	2074	broad.mit.edu	37	10	50740632	50740632	+	Missense_Mutation	SNP	C	C	T	rs116275562	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:50740632C>T	uc001jhs.3	-	2	533	c.379G>A	c.(379-381)GTT>ATT	p.V127I	PGBD3_uc009xoe.2_Missense_Mutation_p.V127I|PGBD3_uc001jhu.2_Missense_Mutation_p.V127I	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	127					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						TCCACGTCAACGAGCTGGGAG	0.552								Direct_reversal_of_damage|NER				
PCDH15	65217	broad.mit.edu	37	10	55587205	55587205	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:55587205G>A	uc001jju.1	-	32	4710	c.4315C>T	c.(4315-4317)CCG>TCG	p.P1439S	PCDH15_uc010qhq.1_Missense_Mutation_p.P1444S|PCDH15_uc010qhr.1_Missense_Mutation_p.P1439S|PCDH15_uc010qhs.1_Missense_Mutation_p.P1451S|PCDH15_uc010qht.1_Missense_Mutation_p.P1446S|PCDH15_uc010qhu.1_Missense_Mutation_p.P1439S|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1436S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1399S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1368S|PCDH15_uc010qhy.1_Missense_Mutation_p.P1444S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1439S|PCDH15_uc010qia.1_Missense_Mutation_p.P1417S|PCDH15_uc010qib.1_Missense_Mutation_p.P1414S	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1439	Poly-Pro.|Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				ggaggcggcggcggcggcggg	0.438										HNSCC(58;0.16)		
ARID5B	84159	broad.mit.edu	37	10	63851103	63851103	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:63851103C>T	uc001jlt.1	+	10	1907	c.1881C>T	c.(1879-1881)ACC>ACT	p.T627T		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	627					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)					CCAACTGCACCGTGAAGGTGG	0.557												
LRRTM3	347731	broad.mit.edu	37	10	68687773	68687773	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:68687773G>A	uc001jmz.1	+	2	1649	c.1099G>A	c.(1099-1101)GAG>AAG	p.E367K	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.E367K	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	367	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						AAGTACTACAGAGAGGTTTGA	0.527												
GRID1	2894	broad.mit.edu	37	10	87487639	87487639	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:87487639G>A	uc001kdl.1	-	10	1607	c.1506C>T	c.(1504-1506)AAC>AAT	p.N502N	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.N73N	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	502	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CGATCATCCCGTTCCAGGAGG	0.537										Multiple Myeloma(13;0.14)		
AGAP11	119385	broad.mit.edu	37	10	88768309	88768309	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:88768309C>T	uc001kee.2	+	12	1504	c.300C>T	c.(298-300)GAC>GAT	p.D100D	AGAP11_uc001kef.2_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	100					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						AAGGGAGTGACCCAGACAAAG	0.542												
GPR120	338557	broad.mit.edu	37	10	95347049	95347049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:95347049C>T	uc010qnt.1	+	4	873	c.817C>T	c.(817-819)CAG>TAG	p.Q273*	GPR120_uc010qnu.1_Nonsense_Mutation_p.Q257*	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	G protein-coupled receptor 120	273	Cytoplasmic (Potential).				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding				0		Colorectal(252;0.122)				CCGCGTGTCCCAGCAGGACTT	0.557												
PDE6C	5146	broad.mit.edu	37	10	95422382	95422382	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:95422382T>C	uc001kiu.3	+	20	2487	c.2349T>C	c.(2347-2349)GTT>GTC	p.V783V		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	783					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				TTGATTTTGTTTGTACTTTTG	0.274												
PLCE1	51196	broad.mit.edu	37	10	95987095	95987095	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:95987095G>A	uc001kjk.2	+	5	2476	c.1842G>A	c.(1840-1842)ACG>ACA	p.T614T	PLCE1_uc010qnx.1_Silent_p.T614T|PLCE1_uc001kjm.2_Silent_p.T306T	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	614	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TGATCCTCACGGCAGGCTCCA	0.478												
CYP2C19	1557	broad.mit.edu	37	10	96535263	96535263	+	Missense_Mutation	SNP	C	C	T	rs142974781		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:96535263C>T	uc010qnz.1	+	3	448	c.448C>T	c.(448-450)CGC>TGC	p.R150C	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Missense_Mutation_p.R128C	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	150					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AGAGGAAGCCCGCTGCCTTGT	0.512												
C10orf2	56652	broad.mit.edu	37	10	102748185	102748185	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:102748185A>G	uc001ksf.2	+	1	893	c.218A>G	c.(217-219)GAT>GGT	p.D73G	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Missense_Mutation_p.D73G|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	73					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCCTTCCAGGATGGTCACAGT	0.537												
PDZD7	79955	broad.mit.edu	37	10	102777873	102777873	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:102777873C>T	uc001kso.1	-	9	1720	c.1505G>A	c.(1504-1506)CGC>CAC	p.R502H	PDZD7_uc001ksn.2_Missense_Mutation_p.R502H	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	502						cilium|nucleus	protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TATGTCCAGGCGAGGGTAAGT	0.438												
TMEM180	79847	broad.mit.edu	37	10	104235578	104235578	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:104235578G>A	uc001kvt.2	+	10	1610	c.1391G>A	c.(1390-1392)CGC>CAC	p.R464H	TMEM180_uc010qql.1_Missense_Mutation_p.R193H|TMEM180_uc010qqm.1_Intron	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	464						integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCGACGCTCCGCCAGGGCTGC	0.657												
ACTR1A	10121	broad.mit.edu	37	10	104248876	104248876	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:104248876C>T	uc001kvv.2	-	3	241	c.133G>A	c.(133-135)GTT>ATT	p.V45I	ACTR1A_uc010qqn.1_Intron|ACTR1A_uc010qqo.1_5'UTR	NM_005736	NP_005727	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A,	45					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)	1		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		ATGACACGAACGTGCTTGGGT	0.443												
C10orf118	55088	broad.mit.edu	37	10	115917403	115917403	+	Silent	SNP	G	G	A	rs146089301		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:115917403G>A	uc001lbb.1	-	3	1321	c.669C>T	c.(667-669)TTC>TTT	p.F223F	C10orf118_uc001lbc.1_Silent_p.F223F|C10orf118_uc009xye.1_RNA	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	223	Potential.									ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AAATGTCTACGAAGAGCTCCT	0.284												
TRUB1	142940	broad.mit.edu	37	10	116698094	116698094	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:116698094G>A	uc001lcd.2	+	1	143	c.82G>A	c.(82-84)GTC>ATC	p.V28I	TRUB1_uc010qsl.1_Intron	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	28					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TGCAGGAACGGTCGCAGCAAT	0.627												
MKI67	4288	broad.mit.edu	37	10	129900871	129900871	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:129900871T>C	uc001lke.2	-	13	9428	c.9233A>G	c.(9232-9234)AAA>AGA	p.K3078R	MKI67_uc001lkf.2_Missense_Mutation_p.K2718R|MKI67_uc009yav.1_Missense_Mutation_p.K2653R|MKI67_uc009yaw.1_Missense_Mutation_p.K2228R	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	3078					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTCTTGTAATTTGTGTTCCTC	0.398												
MKI67	4288	broad.mit.edu	37	10	129904162	129904162	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:129904162C>T	uc001lke.2	-	13	6137	c.5942G>A	c.(5941-5943)TGC>TAC	p.C1981Y	MKI67_uc001lkf.2_Missense_Mutation_p.C1621Y|MKI67_uc009yav.1_Missense_Mutation_p.C1556Y|MKI67_uc009yaw.1_Missense_Mutation_p.C1131Y	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	1981	16 X 122 AA approximate repeats.|9.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGAGATTTGCAGGATACTTC	0.483												
MKI67	4288	broad.mit.edu	37	10	129907312	129907312	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:129907312G>A	uc001lke.2	-	13	2987	c.2792C>T	c.(2791-2793)ACA>ATA	p.T931I	MKI67_uc001lkf.2_Missense_Mutation_p.T571I|MKI67_uc009yav.1_Missense_Mutation_p.T506I|MKI67_uc009yaw.1_Missense_Mutation_p.T81I	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	931					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCCTTATATGTCTCAAAAGG	0.373												
CYP2E1	1571	broad.mit.edu	37	10	135352460	135352460	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:135352460C>T	uc001lnj.1	+	9	1507	c.1474C>T	c.(1474-1476)CGC>TGC	p.R492C	CYP2E1_uc001lnk.1_Missense_Mutation_p.R355C|CYP2E1_uc009ybl.1_Missense_Mutation_p.R293C|CYP2E1_uc009ybm.1_Missense_Mutation_p.R146C|CYP2E1_uc001lnl.1_Intron	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	492					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TGTCATTCCCCGCTCATGAGT	0.453									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			
IFITM5	387733	broad.mit.edu	37	11	299343	299343	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:299343A>G	uc001low.1	-	1	184	c.148T>C	c.(148-150)TGT>CGT	p.C50R		NM_001025295	NP_001020466	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	50	Helical; (Potential).				multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane					0		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCGAGGCAACACAGATTCAGG	0.657												
CTSD	1509	broad.mit.edu	37	11	1780837	1780837	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:1780837C>T	uc001luc.1	-	3	394	c.261G>A	c.(259-261)ACG>ACA	p.T87T	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	87					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTGGGGGGGCGTCCCGATGC	0.647												
OSBPL5	114879	broad.mit.edu	37	11	3122896	3122896	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:3122896C>T	uc001lxk.2	-	13	1617	c.1459G>A	c.(1459-1461)GTC>ATC	p.V487I	OSBPL5_uc010qxq.1_Missense_Mutation_p.V398I|OSBPL5_uc009ydw.2_Missense_Mutation_p.V419I|OSBPL5_uc001lxl.2_Missense_Mutation_p.V419I|OSBPL5_uc009ydx.2_Missense_Mutation_p.V511I	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	oxysterol-binding protein-like protein 5 isoform	487					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CGGTTGCTGACGTGGAAGGCA	0.637												
MRGPRE	116534	broad.mit.edu	37	11	3249856	3249856	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:3249856G>A	uc001lxq.3	-	2	481	c.171C>T	c.(169-171)TTC>TTT	p.F57F		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	57	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTAGATGGCGAAGGGGTTTC	0.632												
ART1	417	broad.mit.edu	37	11	3681308	3681308	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:3681308C>T	uc001lye.1	+	3	660	c.559C>T	c.(559-561)CGG>TGG	p.R187W	ART1_uc009yeb.1_Missense_Mutation_p.R187W	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	187					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CCTGCGCTTCCGGCCAGCAGG	0.672												
NUP98	4928	broad.mit.edu	37	11	3697574	3697574	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:3697574C>T	uc001lyh.2	-	33	5509	c.5218G>A	c.(5218-5220)GTG>ATG	p.V1740M	NUP98_uc001lyi.2_Missense_Mutation_p.V1666M|NUP98_uc001lyg.2_Missense_Mutation_p.V705M	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1757					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTCAGCACCACGCGCAGCAGG	0.572			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML							
OR51F2	119694	broad.mit.edu	37	11	4842865	4842865	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:4842865G>T	uc010qyn.1	+	1	250	c.250G>T	c.(250-252)GAC>TAC	p.D84Y		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F,	84	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCAGCCACAGACCTGAGCTT	0.473												
APBB1	322	broad.mit.edu	37	11	6432180	6432180	+	Missense_Mutation	SNP	C	C	T	rs139345068		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:6432180C>T	uc001mdb.1	-	2	498	c.398G>A	c.(397-399)CGA>CAA	p.R133Q	APBB1_uc001mdc.1_Missense_Mutation_p.R133Q|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	133					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCCAGGTCCTCGTAGGCCTCG	0.433												
NLRP14	338323	broad.mit.edu	37	11	7064936	7064936	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:7064936T>C	uc001mfb.1	+	4	2002	c.1679T>C	c.(1678-1680)TTA>TCA	p.L560S		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	560					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAATCAAAGTTACTTCAGTGT	0.373												
RIC3	79608	broad.mit.edu	37	11	8161631	8161631	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:8161631C>A	uc001mgd.2	-	2	288	c.234G>T	c.(232-234)AAG>AAT	p.K78N	RIC3_uc001mgb.2_5'Flank|RIC3_uc001mgc.2_Missense_Mutation_p.K78N|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Missense_Mutation_p.K28N|RIC3_uc010rbm.1_Missense_Mutation_p.K78N|RIC3_uc009yfm.2_Missense_Mutation_p.K78N|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.3_Missense_Mutation_p.K78N	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN	resistance to inhibitors of cholinesterase 3	78	Lumenal (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				large_intestine(1)|ovary(1)|pancreas(1)	3				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ATCCTTTGGCCTTTGCAAATG	0.512												
IGSF22	283284	broad.mit.edu	37	11	18741263	18741263	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:18741263C>A	uc009yht.2	-	7	886	c.696G>T	c.(694-696)GAG>GAT	p.E232D	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	232	Ig-like 2.									ovary(4)|large_intestine(2)|kidney(1)	7						GGGTACTTACCTCCACCTCTA	0.532												
QSER1	79832	broad.mit.edu	37	11	32955500	32955500	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:32955500T>C	uc001mty.2	+	4	2576	c.2309T>C	c.(2308-2310)ATG>ACG	p.M770T	QSER1_uc001mtz.1_Missense_Mutation_p.M531T|QSER1_uc001mua.2_Missense_Mutation_p.M275T	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	770	Gln-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					TTCCTTCAGATGGAAGGTCAT	0.418												
ACCSL	390110	broad.mit.edu	37	11	44073203	44073203	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:44073203G>A	uc001mxw.1	+	5	762	c.706G>A	c.(706-708)GTG>ATG	p.V236M	ACCSL_uc009ykr.2_Missense_Mutation_p.V55M	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	236							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						TTGTCTTCAGGTGGTGGTTCT	0.532												
CHST1	8534	broad.mit.edu	37	11	45671407	45671407	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:45671407G>A	uc001mys.1	-	4	1738	c.1067C>T	c.(1066-1068)ACG>ATG	p.T356M		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	356	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CTTCTCGGCCGTGGCCGCCGA	0.677												
AMBRA1	55626	broad.mit.edu	37	11	46439470	46439470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:46439470G>A	uc010rgu.1	-	15	3469	c.3109C>T	c.(3109-3111)CGA>TGA	p.R1037*	AMBRA1_uc010rgt.1_Nonsense_Mutation_p.R603*|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.R1008*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.R947*|AMBRA1_uc001ncv.2_Nonsense_Mutation_p.R1040*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.R918*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.R977*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1037					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TACTCTGGTCGGCAGATCACC	0.542												
ZNF408	79797	broad.mit.edu	37	11	46726189	46726189	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:46726189T>A	uc001nde.1	+	5	1169	c.939T>A	c.(937-939)AGT>AGA	p.S313R	ZNF408_uc010rgw.1_Missense_Mutation_p.S305R	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding				0						ACAGCCCCAGTGATCAGTGCC	0.632												
OR8J3	81168	broad.mit.edu	37	11	55904812	55904812	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:55904812T>A	uc010riz.1	-	1	383	c.383A>T	c.(382-384)AAC>ATC	p.N128I		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					GAGCAGAGGGTTACAAATGGC	0.507												
OR9I1	219954	broad.mit.edu	37	11	57885993	57885993	+	Silent	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:57885993G>T	uc001nml.1	-	1	924	c.924C>A	c.(922-924)CTC>CTA	p.L308L	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)				GGGACACCTGGAGTCTCCTAG	0.418												
PGA5	5222	broad.mit.edu	37	11	61017238	61017238	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:61017238G>A	uc001nqz.2	+	7	901	c.871G>A	c.(871-873)GCC>ACC	p.A291T		NM_014224	NP_055039	P00790	PEPA_HUMAN	pepsinogen 5, group I precursor	291				A -> T (in Ref. 3; BAF84553).	digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			skin(1)	1						CAGCCCCATTGCCAACATCCA	0.612												
MTA2	9219	broad.mit.edu	37	11	62361349	62361349	+	Nonstop_Mutation	SNP	A	A	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:62361349A>T	uc001ntq.1	-	18	2386	c.2005T>A	c.(2005-2007)TGA>AGA	p.*669R	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Nonstop_Mutation_p.*496R	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	669					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						ACAGGTGCTCAGTCCTCCAGG	0.607											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NXF1	10482	broad.mit.edu	37	11	62569485	62569485	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:62569485C>T	uc001nvf.1	-	5	623	c.487G>A	c.(487-489)GTT>ATT	p.V163I	NXF1_uc001nvg.1_Missense_Mutation_p.V163I|NXF1_uc009yog.1_Missense_Mutation_p.V206I|NXF1_uc010rmh.1_Missense_Mutation_p.V26I	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	163	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						GCGTCTTCAACGAAGAACTGG	0.517												
SF1	7536	broad.mit.edu	37	11	64534407	64534407	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:64534407C>T	uc001obb.1	-	12	1924	c.1547G>A	c.(1546-1548)AGT>AAT	p.S516N	SF1_uc010rnm.1_Missense_Mutation_p.S208N|SF1_uc010rnn.1_Missense_Mutation_p.S490N|SF1_uc001oaz.1_Missense_Mutation_p.S641N|SF1_uc001oba.1_Missense_Mutation_p.S516N|SF1_uc001obc.1_Missense_Mutation_p.S516N|SF1_uc001obd.1_Silent_p.Q517Q|SF1_uc001obe.1_Silent_p.Q402Q|SF1_uc010rno.1_Missense_Mutation_p.S401N	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	516	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						GGAAGCCATACTGCTGCTGGG	0.642												
CDC42BPG	55561	broad.mit.edu	37	11	64595039	64595039	+	Silent	SNP	G	G	A	rs71539697		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:64595039G>A	uc001obs.3	-	32	4110	c.4110C>T	c.(4108-4110)ACC>ACT	p.T1370T		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1370					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						GGACCTTCTCGGTGCCGTAGA	0.677												
CDC42BPG	55561	broad.mit.edu	37	11	64597712	64597712	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:64597712C>T	uc001obs.3	-	29	3321	c.3321G>A	c.(3319-3321)GCG>GCA	p.A1107A		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1107	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						CGGTGCCAAGCGCAAGTCGAT	0.363												
C11orf2	738	broad.mit.edu	37	11	64878804	64878804	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:64878804G>A	uc001ocr.1	+	10	2134	c.2094G>A	c.(2092-2094)TCG>TCA	p.S698S	TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Silent_p.S574S	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	698					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						TGCAGGTGTCGGTGCTGACCG	0.627												
POLA2	23649	broad.mit.edu	37	11	65046287	65046287	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:65046287C>T	uc001odj.2	+	6	890	c.548C>T	c.(547-549)TCT>TTT	p.S183F	POLA2_uc009yqf.1_Missense_Mutation_p.S183F|POLA2_uc010rod.1_5'UTR|POLA2_uc001odk.2_5'Flank	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	183					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)	GTATCTTGGTCTGGGAGAGGA	0.498												
CATSPER1	117144	broad.mit.edu	37	11	65792903	65792903	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:65792903G>A	uc001ogt.2	-	1	1086	c.948C>T	c.(946-948)GGC>GGT	p.G316G		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	316	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						GGACGTAGTCGCCATGGAGGT	0.378												
CCS	9973	broad.mit.edu	37	11	66367082	66367082	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:66367082G>A	uc001oir.2	+	4	446	c.403G>A	c.(403-405)GGG>AGG	p.G135R	CCS_uc001ois.2_5'Flank	NM_005125	NP_005116	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	135	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding				0						CCATCAGTACGGGGACCTTAC	0.468												
RBM4	5936	broad.mit.edu	37	11	66411375	66411375	+	Silent	SNP	A	A	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:66411375A>T	uc009yrj.2	+	3	1355	c.867A>T	c.(865-867)GCA>GCT	p.A289A	RBM4_uc009yrk.2_Silent_p.A264A|RBM4_uc001oiw.1_Silent_p.A289A|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.A289A|RBM4_uc001oiz.1_Silent_p.A289A	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	289	Interaction with TNPO3.|Poly-Ala.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		ctgctgctgcagcagcagccg	0.438												
LRFN4	78999	broad.mit.edu	37	11	66627389	66627389	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:66627389C>G	uc001ojr.2	+	2	1971	c.1631C>G	c.(1630-1632)GCC>GGC	p.A544G	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	544	Cytoplasmic (Potential).					integral to membrane					0						GGCCGGGGGGCCGGAAATGGC	0.637												
SHANK2	22941	broad.mit.edu	37	11	70338504	70338504	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:70338504G>A	uc001oqc.2	-	18	2453	c.2375C>T	c.(2374-2376)CCG>CTG	p.P792L	SHANK2_uc010rqn.1_Missense_Mutation_p.P204L|SHANK2_uc001opz.2_Missense_Mutation_p.P197L|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.P194L|SHANK2_uc001opy.2_5'UTR|SHANK2_uc010rqo.1_Missense_Mutation_p.P5L	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	413					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGCCACCCTCGGTTCCACAGC	0.637												
NADSYN1	55191	broad.mit.edu	37	11	71208564	71208564	+	Silent	SNP	C	C	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:71208564C>G	uc001oqn.2	+	19	1926	c.1800C>G	c.(1798-1800)GTC>GTG	p.V600V	NADSYN1_uc001oqo.2_Silent_p.V340V|NADSYN1_uc001oqp.2_Silent_p.V229V	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	600	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGCTCTCGGTCTATGGGAAAC	0.527												
B3GNT6	192134	broad.mit.edu	37	11	76750655	76750655	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:76750655C>T	uc001oxw.2	+	2	148	c.60C>T	c.(58-60)GGC>GGT	p.G20G		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	20	Helical; Signal-anchor for type II membrane protein; (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						TCCTGGTGGGCGTGAGTTTCT	0.652											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RSF1	51773	broad.mit.edu	37	11	77388037	77388037	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:77388037G>A	uc001oyn.2	-	13	3261	c.3141C>T	c.(3139-3141)GGC>GGT	p.G1047G	RSF1_uc001oym.2_Silent_p.G795G	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1047					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTTTTCCTCGGCCAACTCCTG	0.413												
PRCP	5547	broad.mit.edu	37	11	82549488	82549488	+	Silent	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:82549488G>T	uc001ozs.2	-	8	1328	c.1215C>A	c.(1213-1215)TCC>TCA	p.S405S	PRCP_uc001ozr.2_Silent_p.S426S	NM_005040	NP_005031	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 1 preproprotein	405					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			skin(1)	1						TAGTGATCCAGGAGGGCCTTG	0.413												
C11orf82	220042	broad.mit.edu	37	11	82643360	82643360	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:82643360G>A	uc001ozt.2	+	6	1224	c.980G>A	c.(979-981)AGC>AAC	p.S327N	C11orf82_uc010rsr.1_Missense_Mutation_p.S26N|C11orf82_uc010rss.1_Missense_Mutation_p.S26N|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	327					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						GCAGTTCACAGCAGTCATCAT	0.398												
CHORDC1	26973	broad.mit.edu	37	11	89939416	89939416	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:89939416C>A	uc001pdg.2	-	7	927	c.517G>T	c.(517-519)GAA>TAA	p.E173*	CHORDC1_uc009yvz.2_Nonsense_Mutation_p.E154*	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain-containing	173	Interaction with HSP90AA1 and HSP90AB1 (By similarity).|CHORD 2.				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				CAGACTTCTTCTAGACTCTCT	0.323												
CEP57	9702	broad.mit.edu	37	11	95552045	95552045	+	Missense_Mutation	SNP	C	C	T	rs144903440		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:95552045C>T	uc001pfp.1	+	6	897	c.676C>T	c.(676-678)CGC>TGC	p.R226C	CEP57_uc001pfo.1_Missense_Mutation_p.R226C|CEP57_uc010ruh.1_Missense_Mutation_p.R217C|CEP57_uc010rui.1_Missense_Mutation_p.R226C|CEP57_uc009ywn.1_Missense_Mutation_p.R74C|CEP57_uc001pfq.1_Missense_Mutation_p.R226C|CEP57_uc001pfr.1_Missense_Mutation_p.R74C	NM_014679	NP_055494	Q86XR8	CEP57_HUMAN	translokin	226	Potential.|centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGAAAGGAAACGCATGCAAGC	0.353									Mosaic_Variegated_Aneuploidy_Syndrome			
NPAT	4863	broad.mit.edu	37	11	108031933	108031933	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:108031933G>A	uc001pjz.3	-	17	3982	c.3880C>T	c.(3880-3882)CGT>TGT	p.R1294C	NPAT_uc010rvv.1_Missense_Mutation_p.R350C	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	1294					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCACTGAAACGCCTACTAGAG	0.493												
ATM	472	broad.mit.edu	37	11	108170454	108170454	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:108170454C>T	uc001pkb.1	+	34	5404	c.5019C>T	c.(5017-5019)AGC>AGT	p.S1673S	ATM_uc009yxr.1_Silent_p.S1673S|ATM_uc001pke.1_Silent_p.S325S|ATM_uc001pkg.1_Silent_p.S30S	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1673					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTGTTGGAAGCTGCTTGGGAG	0.333			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
DRD2	1813	broad.mit.edu	37	11	113281585	113281585	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:113281585C>G	uc001pnz.2	-	7	1517	c.1196G>C	c.(1195-1197)TGT>TCT	p.C399S	DRD2_uc010rwv.1_Missense_Mutation_p.C398S|DRD2_uc001poa.3_Missense_Mutation_p.C399S|DRD2_uc001pob.3_Missense_Mutation_p.C370S	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	399	Extracellular (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GTTGCAGTCACAGTGTATGTT	0.577												
FAM55A	120400	broad.mit.edu	37	11	114401164	114401164	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:114401164G>A	uc001ppa.2	-	3	557	c.140C>T	c.(139-141)GCG>GTG	p.A47V	FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.A189V	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	189						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		GAGAGCCGACGCCCCTTCACT	0.512												
UBE4A	9354	broad.mit.edu	37	11	118253491	118253491	+	Missense_Mutation	SNP	G	G	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:118253491G>C	uc001psw.2	+	13	2326	c.2197G>C	c.(2197-2199)GGA>CGA	p.G733R	UBE4A_uc001psv.2_Missense_Mutation_p.G740R	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	733					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CGAATTTACAGGTAAAGCAGT	0.423												
MLL	4297	broad.mit.edu	37	11	118374689	118374689	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:118374689A>G	uc001pta.2	+	27	8096	c.8073A>G	c.(8071-8073)TCA>TCG	p.S2691S	MLL_uc001ptb.2_Silent_p.S2694S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2691					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TGATTTCTTCAGGTGGAGAGG	0.448			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
BCL9L	283149	broad.mit.edu	37	11	118773197	118773197	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:118773197G>A	uc001pug.2	-	6	2220	c.1255C>T	c.(1255-1257)CGA>TGA	p.R419*	BCL9L_uc009zal.2_Nonsense_Mutation_p.R414*	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	419	Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGCAGCAGTCGCTCAATGTCT	0.682												
CCDC153	283152	broad.mit.edu	37	11	119063872	119063872	+	Missense_Mutation	SNP	C	C	T	rs148526857	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:119063872C>T	uc010rze.1	-	5	426	c.338G>A	c.(337-339)CGG>CAG	p.R113Q		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	coiled-coil domain containing 153	113	Potential.										0						TAGCTGCCCCCGAAGGCCTTT	0.597												
TBCEL	219899	broad.mit.edu	37	11	120924331	120924331	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:120924331G>A	uc009zay.2	+	4	423	c.345G>A	c.(343-345)TCG>TCA	p.S115S	TBCEL_uc001pxo.2_Silent_p.S115S|TBCEL_uc001pxp.2_Intron|TBCEL_uc001pxq.2_Intron	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	115	LRR 2.					cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TGAATTTGTCGGTTTTAGAAA	0.423												
TECTA	7007	broad.mit.edu	37	11	120976630	120976630	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:120976630C>T	uc010rzo.1	+	2	155	c.155C>T	c.(154-156)GCC>GTC	p.A52V		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	52					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATTAAGTTGGCCATCCCAGTT	0.468												
OR8B2	26595	broad.mit.edu	37	11	124253126	124253126	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:124253126G>A	uc010sai.1	-	1	114	c.114C>T	c.(112-114)ACC>ACT	p.T38T	OR8B2_uc001qab.3_RNA	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGCCTACCATGGTGACAATGT	0.418												
CCDC15	80071	broad.mit.edu	37	11	124845056	124845056	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:124845056A>G	uc001qbm.3	+	5	840	c.581A>G	c.(580-582)AAG>AGG	p.K194R		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	194						centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ATTAAAAAAAAGGGATCAGTG	0.358												
ARHGAP32	9743	broad.mit.edu	37	11	128840436	128840436	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:128840436C>T	uc009zcp.2	-	22	4630	c.4630G>A	c.(4630-4632)GCA>ACA	p.A1544T	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.A503T|ARHGAP32_uc001qez.2_Missense_Mutation_p.A1195T	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1544	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TGTCCAGATGCGTTTCTTCCT	0.517												
ARHGAP32	9743	broad.mit.edu	37	11	128856447	128856447	+	Missense_Mutation	SNP	A	A	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:128856447A>T	uc009zcp.2	-	13	1373	c.1373T>A	c.(1372-1374)CTT>CAT	p.L458H	ARHGAP32_uc009zcq.1_Missense_Mutation_p.L418H|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.L109H|ARHGAP32_uc001qfb.2_Missense_Mutation_p.L243H	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	458	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						CTGGTAGGTAAGCAGAGGGTT	0.448												
PRDM10	56980	broad.mit.edu	37	11	129800918	129800918	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:129800918C>T	uc001qfm.2	-	11	1755	c.1523G>A	c.(1522-1524)CGC>CAC	p.R508H	PRDM10_uc001qfj.2_Missense_Mutation_p.R422H|PRDM10_uc001qfk.2_Missense_Mutation_p.R422H|PRDM10_uc001qfl.2_Missense_Mutation_p.R422H|PRDM10_uc010sbx.1_Missense_Mutation_p.R422H|PRDM10_uc001qfn.2_Missense_Mutation_p.R508H|PRDM10_uc009zct.1_Missense_Mutation_p.R540H	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TACTCGGATGCGCTTGGCTCT	0.607												
B3GAT1	27087	broad.mit.edu	37	11	134257522	134257522	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:134257522A>G	uc001qhq.2	-	3	293	c.32T>C	c.(31-33)GTC>GCC	p.V11A	B3GAT1_uc001qhr.2_Missense_Mutation_p.V11A|B3GAT1_uc010scv.1_Missense_Mutation_p.V24A	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	11	Helical; Signal-anchor for type II membrane protein; (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	p.V11I(1)		ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CACGATGAGGACGATCGCTAG	0.627												
CACNA2D4	93589	broad.mit.edu	37	12	2024025	2024025	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:2024025G>A	uc001qjp.2	-	2	535	c.304C>T	c.(304-306)CAG>TAG	p.Q102*	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Nonsense_Mutation_p.Q102*	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	102	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CTGACCTTCTGCAGCAAGAGA	0.478												
NRIP2	83714	broad.mit.edu	37	12	2943970	2943970	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:2943970A>G	uc001qlc.2	-	1	252	c.180T>C	c.(178-180)GAT>GAC	p.D60D	NRIP2_uc010sed.1_Silent_p.D60D|uc009zdz.1_5'Flank	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	60					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTTCTCCCTCATCTCTCCTGG	0.667												
DYRK4	8798	broad.mit.edu	37	12	4722772	4722772	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:4722772C>T	uc001qmx.2	+	13	1576	c.1416C>T	c.(1414-1416)CAC>CAT	p.H472H	DYRK4_uc001qmy.1_Silent_p.H471H|DYRK4_uc001qmz.1_Silent_p.H185H|DYRK4_uc001qna.1_Silent_p.H108H|DYRK4_uc010ser.1_Silent_p.H109H	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	472						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)			GTCTCCAGCACGGAGCTGACA	0.537												
CHD4	1108	broad.mit.edu	37	12	6686958	6686958	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:6686958C>A	uc001qpo.2	-	37	5518	c.5354G>T	c.(5353-5355)AGG>ATG	p.R1785M	CHD4_uc001qpn.2_Missense_Mutation_p.R1778M|CHD4_uc001qpp.2_Missense_Mutation_p.R1810M|uc001qpq.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1785	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CACCTTAAACCTTCGAGCTAG	0.463												
USP5	8078	broad.mit.edu	37	12	6968673	6968673	+	Silent	SNP	G	G	A	rs143750403	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:6968673G>A	uc001qri.3	+	9	1157	c.1098G>A	c.(1096-1098)CCG>CCA	p.P366P	USP5_uc001qrh.3_Silent_p.P366P	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	366					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						AGAATGCCCCGACGGACCCTA	0.537												
A2M	2	broad.mit.edu	37	12	9251353	9251353	+	Splice_Site	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:9251353C>A	uc001qvk.1	-	15	1815	c.1702_splice	c.e15-1	p.V568_splice	A2M_uc009zgk.1_Splice_Site_p.V418_splice	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor						blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	TCAAATCCACCTGTGAAATTG	0.512												
TAS2R13	50838	broad.mit.edu	37	12	11061808	11061808	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:11061808G>A	uc001qzg.1	-	1	354	c.90C>T	c.(88-90)ATC>ATT	p.I30I	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	30	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|skin(1)	2						CAATGCAGTTGATCAGTACTA	0.403												
BCL2L14	79370	broad.mit.edu	37	12	12247740	12247740	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:12247740T>C	uc001rac.2	+	5	1022	c.821T>C	c.(820-822)CTT>CCT	p.L274P	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.2_Missense_Mutation_p.L274P|BCL2L14_uc001rae.2_3'UTR	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	BCL2-like 14 isoform 1	274					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			skin(1)	1		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		AAGGCTGCCCTTGTAATAGAC	0.527												
GRIN2B	2904	broad.mit.edu	37	12	13717350	13717350	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:13717350A>G	uc001rbt.2	-	13	3001	c.2822T>C	c.(2821-2823)TTC>TCC	p.F941S		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	941	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGAATGCGTGAAGCTGCGGCG	0.552												
PLEKHA5	54477	broad.mit.edu	37	12	19522684	19522684	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:19522684C>T	uc001reb.2	+	25	3400	c.3314C>T	c.(3313-3315)CCG>CTG	p.P1105L	PLEKHA5_uc001rea.2_Missense_Mutation_p.P1163L|PLEKHA5_uc009zin.2_Missense_Mutation_p.P863L|PLEKHA5_uc010sif.1_Missense_Mutation_p.P1094L|PLEKHA5_uc010sig.1_Missense_Mutation_p.P1087L|PLEKHA5_uc009zio.2_Missense_Mutation_p.P371L	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	1105							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TCCACTCAGCCGCAGCTCACA	0.403												
CMAS	55907	broad.mit.edu	37	12	22213859	22213859	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:22213859A>G	uc001rfm.2	+	5	866	c.787A>G	c.(787-789)AGA>GGA	p.R263G	CMAS_uc001rfn.2_RNA	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	cytidine monophospho-N-acetylneuraminic acid	263					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			ovary(1)|pancreas(1)|skin(1)	3						AAGAGTATTAAGGTAAAAACA	0.323												
REP15	387849	broad.mit.edu	37	12	27850003	27850003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:27850003G>T	uc001rig.1	+	1	576	c.508G>T	c.(508-510)GGA>TGA	p.G170*		NM_001029874	NP_001025045	Q6BDI9	REP15_HUMAN	RAB15 effector protein	170						early endosome membrane				ovary(1)	1	Lung SC(9;0.0873)					TGGTATGCCAGGAAAGCCTAA	0.468												
FAR2	55711	broad.mit.edu	37	12	29462162	29462162	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:29462162C>T	uc001ris.3	+	6	914	c.767C>T	c.(766-768)GCG>GTG	p.A256V	FAR2_uc001rit.2_Missense_Mutation_p.A256V|FAR2_uc009zjm.2_Missense_Mutation_p.A159V|uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	256					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0						ATCATTATTGCGGTATGTATA	0.303												
IPO8	10526	broad.mit.edu	37	12	30783861	30783861	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:30783861C>T	uc001rjd.2	-	25	3217	c.3047G>A	c.(3046-3048)GGC>GAC	p.G1016D	IPO8_uc001rje.1_3'UTR|IPO8_uc010sjt.1_Missense_Mutation_p.G811D	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	1016					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AAAGGTGAAGCCTCCCTGTTG	0.413												
PKP2	5318	broad.mit.edu	37	12	33031261	33031261	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:33031261G>A	uc001rlj.3	-	3	668	c.553C>T	c.(553-555)CGG>TGG	p.R185W	PKP2_uc001rlk.3_Missense_Mutation_p.R185W|PKP2_uc010skj.1_Missense_Mutation_p.R185W	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	185					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGGGCGGCCCGCCTGCTTTCT	0.622												
FAM113B	91523	broad.mit.edu	37	12	47629304	47629304	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:47629304T>C	uc001rpn.2	+	4	1189	c.458T>C	c.(457-459)GTG>GCG	p.V153A	FAM113B_uc010slj.1_Missense_Mutation_p.V33A|FAM113B_uc001rpq.2_Missense_Mutation_p.V153A	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	153							hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					CTGGGCCAGGTGCTGCCCGAG	0.612												
COL2A1	1280	broad.mit.edu	37	12	48380149	48380149	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:48380149G>A	uc001rqu.2	-	23	1678	c.1497C>T	c.(1495-1497)GGC>GGT	p.G499G	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.G430G	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	499	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGGCCCAACGCCACCAGGCT	0.622												
H1FNT	341567	broad.mit.edu	37	12	48723477	48723477	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:48723477G>A	uc001rrm.2	+	1	715	c.403G>A	c.(403-405)GCG>ACG	p.A135T		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	135	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			pancreas(1)	1						GCCGGGACGCGCGAGGCAAGA	0.746												
TROAP	10024	broad.mit.edu	37	12	49723227	49723227	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:49723227C>T	uc001rtx.3	+	11	1321	c.1154C>T	c.(1153-1155)GCC>GTC	p.A385V	TROAP_uc009zlh.2_Missense_Mutation_p.A385V|TROAP_uc001rty.2_Missense_Mutation_p.A93V	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	385					cell adhesion	cytoplasm				ovary(1)	1						GAAGATCCTGCCCTGCCCTGG	0.597												
KCNH3	23416	broad.mit.edu	37	12	49938006	49938006	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:49938006C>T	uc001ruh.1	+	7	1290	c.1030C>T	c.(1030-1032)CGC>TGC	p.R344C	KCNH3_uc010smj.1_Missense_Mutation_p.R284C	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	344	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						gcgcctgctgcgcctgctTCC	0.498												
KRT84	3890	broad.mit.edu	37	12	52774246	52774246	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:52774246G>A	uc001sah.1	-	7	1373	c.1325C>T	c.(1324-1326)GCG>GTG	p.A442V		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	442	Rod.|Coil 2.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCTGCCGCGCCATGTCCTG	0.657											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ITGB7	3695	broad.mit.edu	37	12	53585371	53585371	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:53585371C>T	uc009zmv.2	-	15	2437	c.2366G>A	c.(2365-2367)CGC>CAC	p.R789H	ITGB7_uc001scc.2_Missense_Mutation_p.R789H|ITGB7_uc010snz.1_RNA	NM_000889	NP_000880	P26010	ITB7_HUMAN	integrin, beta 7 precursor	789	Cytoplasmic (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						CTCTTGAAAGCGAGGATTGAT	0.507												
ITGB7	3695	broad.mit.edu	37	12	53589929	53589929	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:53589929T>C	uc009zmv.2	-	6	942	c.871A>G	c.(871-873)ACA>GCA	p.T291A	ITGB7_uc001scc.2_Missense_Mutation_p.T291A|ITGB7_uc010snz.1_RNA	NM_000889	NP_000880	P26010	ITB7_HUMAN	integrin, beta 7 precursor	291	VWFA.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						GTATGGAATGTGTCGTCTGAA	0.572												
OR10P1	121130	broad.mit.edu	37	12	56031570	56031570	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:56031570A>G	uc010spq.1	+	1	895	c.895A>G	c.(895-897)AGG>GGG	p.R299G		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						CAAGGACGTGAGGAGGGCCCT	0.577												
ITGA7	3679	broad.mit.edu	37	12	56088256	56088256	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:56088256C>T	uc001shh.2	-	17	2560	c.2340G>A	c.(2338-2340)ACG>ACA	p.T780T	ITGA7_uc001shg.2_Silent_p.T776T|ITGA7_uc010sps.1_Silent_p.T683T|ITGA7_uc009znw.2_Silent_p.T23T|ITGA7_uc009znx.2_Silent_p.T657T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	820	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						CCTCCAGTTCCGTGGTCTCAA	0.577												
ANKRD52	283373	broad.mit.edu	37	12	56639211	56639211	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:56639211G>A	uc001skm.3	-	21	2444	c.2354C>T	c.(2353-2355)GCC>GTC	p.A785V		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	785							protein binding			ovary(2)	2						ATCCACCCCGGCATCCAGGGG	0.617												
PAN2	9924	broad.mit.edu	37	12	56720627	56720627	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:56720627C>T	uc001skx.2	-	7	1409	c.1036G>A	c.(1036-1038)GCC>ACC	p.A346T	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.A346T|PAN2_uc001sky.2_Missense_Mutation_p.A346T	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	346					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						TCCCCAAAGGCCAGAGCCTGC	0.557												
CTDSP2	10106	broad.mit.edu	37	12	58240195	58240195	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:58240195G>A	uc001sqm.2	-	1	553	c.24C>T	c.(22-24)ACC>ACT	p.T8T	CTDSP2_uc009zqf.2_5'Flank|CTDSP2_uc009zqg.2_Silent_p.T8T	NM_005730	NP_005721	O14595	CTDS2_HUMAN	nuclear LIM interactor-interacting factor 2	8					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			central_nervous_system(1)	1	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					TCCGCGCCTGGGTGATGATGG	0.458												
AVPR1A	552	broad.mit.edu	37	12	63543831	63543831	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:63543831C>T	uc001sro.1	-	1	2760	c.786G>A	c.(784-786)GCG>GCA	p.A262A		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	262	Cytoplasmic (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGGCCACACCCGCTTGCTCTG	0.587												
GNS	2799	broad.mit.edu	37	12	65130789	65130789	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:65130789T>G	uc001ssg.3	-	9	1263	c.1093A>C	c.(1093-1095)AGC>CGC	p.S365R	GNS_uc001ssf.2_Missense_Mutation_p.S309R|GNS_uc010ssq.1_Missense_Mutation_p.S397R|GNS_uc010ssr.1_Missense_Mutation_p.S345R	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	365						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)	1	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		CCTACCTTGCTTGTCTGATTT	0.458												
SPIC	121599	broad.mit.edu	37	12	101876581	101876581	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:101876581G>A	uc001tid.2	+	5	381	c.222G>A	c.(220-222)GCG>GCA	p.A74A	SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Silent_p.A73A	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	74						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						ACAGTGCTGCGGACTTCTATT	0.244												
PAH	5053	broad.mit.edu	37	12	103271264	103271264	+	Silent	SNP	T	T	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:103271264T>G	uc001tjq.1	-	5	889	c.417A>C	c.(415-417)GGA>GGC	p.G139G	PAH_uc010swc.1_Silent_p.G139G	NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	139					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CCAGTTCCGCTCCATAGCTGA	0.403												
FOXN4	121643	broad.mit.edu	37	12	109717585	109717585	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:109717585G>A	uc001toe.3	-	10	1550	c.1445C>T	c.(1444-1446)ACG>ATG	p.T482M	FOXN4_uc009zvg.2_Missense_Mutation_p.T279M|FOXN4_uc001tof.3_Missense_Mutation_p.T302M	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	forkhead box N4	482					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|lung(1)	2						GTAGAGACCCGTCACCTGCAA	0.647												
MED13L	23389	broad.mit.edu	37	12	116404042	116404042	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:116404042C>T	uc001tvw.2	-	29	6287	c.6232G>A	c.(6232-6234)GGT>AGT	p.G2078S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2078					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AGACGCTCACCCTGGCTCTGA	0.443												
VSIG10	54621	broad.mit.edu	37	12	118517177	118517177	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:118517177G>A	uc001tws.2	-	4	1233	c.899C>T	c.(898-900)TCG>TTG	p.S300L		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	300	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane					0						GCTGGCGCCCGACTCTGGCCC	0.532												
SRRM4	84530	broad.mit.edu	37	12	119563203	119563203	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:119563203G>A	uc001txa.1	+	7	825	c.533G>A	c.(532-534)CGA>CAA	p.R178Q		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	178	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						AGCCGGCCCCGAAAGTCTCAC	0.463												
CCDC60	160777	broad.mit.edu	37	12	119968783	119968783	+	Missense_Mutation	SNP	G	G	A	rs148262586	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:119968783G>A	uc001txe.2	+	13	1931	c.1466G>A	c.(1465-1467)CGG>CAG	p.R489Q	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	489										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTGGACTTGCGGATTCGACCC	0.512												
CIT	11113	broad.mit.edu	37	12	120135487	120135487	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:120135487G>A	uc001txi.1	-	45	5786	c.5733C>T	c.(5731-5733)CAC>CAT	p.H1911H	CIT_uc001txh.1_Silent_p.H1430H|CIT_uc001txj.1_Silent_p.H1953H	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1911					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACGGGCCCCGGTGGTGTTCAG	0.532												
CIT	11113	broad.mit.edu	37	12	120172001	120172001	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:120172001C>T	uc001txi.1	-	25	3245	c.3192G>A	c.(3190-3192)CTG>CTA	p.L1064L	CIT_uc001txh.1_Silent_p.L598L|CIT_uc001txj.1_Silent_p.L1106L	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1064	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCATTCTCTGCAGCTCTCGAA	0.557												
CCDC64	92558	broad.mit.edu	37	12	120518704	120518704	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:120518704G>A	uc001txl.1	+	7	1347	c.1322G>A	c.(1321-1323)AGT>AAT	p.S441N	CCDC64_uc009zwv.1_RNA|CCDC64_uc010sze.1_Missense_Mutation_p.S112N|CCDC64_uc010szf.1_Missense_Mutation_p.S138N	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	441	Potential.				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACACTGCTGAGTGTGGAGATG	0.527												
OASL	8638	broad.mit.edu	37	12	121476748	121476748	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:121476748G>A	uc001tzj.1	-	1	33	c.27C>T	c.(25-27)AGC>AGT	p.S9S	OASL_uc001tzk.1_Silent_p.S9S	NM_003733	NP_003724	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like isoform a	9					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			skin(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGCTGGTGTGCTATACAGTT	0.612												
KDM2B	84678	broad.mit.edu	37	12	121891034	121891034	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:121891034G>A	uc001uat.2	-	13	1952	c.1848C>T	c.(1846-1848)TGC>TGT	p.C616C	KDM2B_uc001uaq.2_Silent_p.C56C|KDM2B_uc010szy.1_Silent_p.C56C|KDM2B_uc001uar.2_Silent_p.C207C|KDM2B_uc001uas.2_Silent_p.C585C|KDM2B_uc001uau.2_Silent_p.C499C	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	616	CXXC-type.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						GGCAGGCCTCGCACTTGCGGC	0.697												
MORN3	283385	broad.mit.edu	37	12	122091114	122091114	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:122091114G>A	uc001uax.2	-	4	686	c.515C>T	c.(514-516)GCG>GTG	p.A172V	MORN3_uc001uay.2_Intron	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	172	MORN 6.										0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		GAAACGCCCCGCCCCGTTCTT	0.587												
DDX55	57696	broad.mit.edu	37	12	124103353	124103353	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:124103353G>A	uc001ufi.2	+	12	1326	c.1302G>A	c.(1300-1302)AAG>AAA	p.K434K	DDX55_uc001ufh.2_Silent_p.K287K|DDX55_uc001ufk.2_Silent_p.K287K|DDX55_uc001ufl.2_Silent_p.K41K	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	434							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CTTATGCAAAGCATGAATGCA	0.418											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DNAH10	196385	broad.mit.edu	37	12	124298123	124298123	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:124298123C>T	uc001uft.3	+	19	3228	c.3203C>T	c.(3202-3204)TCG>TTG	p.S1068L	DNAH10_uc010tav.1_Missense_Mutation_p.S610L|DNAH10_uc010taw.1_Missense_Mutation_p.S553L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1068	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGGTGATTTCGCTTGGAAAA	0.443												
TMEM132D	121256	broad.mit.edu	37	12	130184678	130184678	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:130184678G>A	uc009zyl.1	-	2	973	c.645C>T	c.(643-645)TCC>TCT	p.S215S		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	215	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCTGGTCCACGGACTTCCTCC	0.692												
RIMBP2	23504	broad.mit.edu	37	12	130884240	130884240	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:130884240C>T	uc001uil.2	-	18	3280	c.3116G>A	c.(3115-3117)CGC>CAC	p.R1039H		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	1039						cell junction|synapse		p.R1039H(1)		upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGCCTTTGAGCGCATTGGCGT	0.418												
PSPC1	55269	broad.mit.edu	37	13	20346577	20346577	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:20346577A>G	uc001uml.2	-	2	665	c.479T>C	c.(478-480)GTC>GCC	p.V160A	PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	paraspeckle protein 1	160	RRM 2.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)	1		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		AAGGTTCTTGACAGTCAAGGC	0.493												
ATP12A	479	broad.mit.edu	37	13	25264573	25264573	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:25264573C>A	uc001upp.2	+	6	831	c.644C>A	c.(643-645)CCT>CAT	p.P215H	ATP12A_uc010aaa.2_Missense_Mutation_p.P215H	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	215	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GACCAGATCCCTGCAGACATC	0.572												
KATNAL1	84056	broad.mit.edu	37	13	30782714	30782714	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:30782714T>G	uc001uss.2	-	11	1537	c.1436A>C	c.(1435-1437)AAG>ACG	p.K479T	KATNAL1_uc001ust.2_Missense_Mutation_p.K479T	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	479						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity				0		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TTTTTCATACTTCTCCAAGTC	0.368												
NUFIP1	26747	broad.mit.edu	37	13	45533698	45533698	+	Missense_Mutation	SNP	C	C	A	rs142430693		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:45533698C>A	uc001uzp.2	-	7	881	c.839G>T	c.(838-840)GGG>GTG	p.G280V		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein	280					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding				0		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TCTGGACATCCCCTTCATCTT	0.378												
SPERT	220082	broad.mit.edu	37	13	46288456	46288456	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:46288456C>T	uc001van.1	+	3	1376	c.1296C>T	c.(1294-1296)TAC>TAT	p.Y432Y	SPERT_uc001vao.2_Silent_p.Y396Y	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	432						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGGAGCTCTACGCCTTCATGC	0.622												
ATP7B	540	broad.mit.edu	37	13	52515271	52515271	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:52515271C>T	uc001vfw.2	-	16	3659	c.3502G>A	c.(3502-3504)GCT>ACT	p.A1168T	ATP7B_uc010adv.2_Missense_Mutation_p.A738T|ATP7B_uc001vfx.2_Missense_Mutation_p.A961T|ATP7B_uc001vfy.2_Missense_Mutation_p.A1057T|ATP7B_uc010tgt.1_Missense_Mutation_p.A1103T|ATP7B_uc010tgu.1_Missense_Mutation_p.A1120T|ATP7B_uc010tgv.1_Missense_Mutation_p.A1090T|ATP7B_uc001vfv.2_Missense_Mutation_p.A440T|ATP7B_uc010tgs.1_Missense_Mutation_p.A379T	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1168	Cytoplasmic (Potential).		A -> S (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TCTGTCATAGCGTCACTGACA	0.498									Wilson_disease			
PCDH8	5100	broad.mit.edu	37	13	53418722	53418722	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:53418722C>T	uc001vhi.2	-	3	3389	c.3186G>A	c.(3184-3186)CCG>CCA	p.P1062P	PCDH8_uc001vhj.2_Silent_p.P965P	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	1062	Cytoplasmic (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)		CTCCCTTCTTCGGGGACAGGT	0.552												
PCDH8	5100	broad.mit.edu	37	13	53419757	53419757	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:53419757G>A	uc001vhi.2	-	2	2845	c.2642C>T	c.(2641-2643)GCC>GTC	p.A881V	PCDH8_uc001vhj.2_Missense_Mutation_p.A784V	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	881	Cytoplasmic (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)		ACCCGGGGAGGCACCGTAGGG	0.562												
DIS3	22894	broad.mit.edu	37	13	73335641	73335641	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:73335641C>T	uc001vix.3	-	19	2904	c.2530G>A	c.(2530-2532)GGA>AGA	p.G844R	DIS3_uc001viy.3_Missense_Mutation_p.G814R|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	844					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CTTACTATTCCTTTGCTTTTG	0.224										Multiple Myeloma(4;0.011)		
CLN5	1203	broad.mit.edu	37	13	77570161	77570161	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:77570161C>T	uc001vkc.2	+	3	639	c.611C>T	c.(610-612)GCC>GTC	p.A204V		NM_006493	NP_006484	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	155					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		GAAATGGATGCCCCTTTCTGG	0.418												
IPO5	3843	broad.mit.edu	37	13	98641394	98641394	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:98641394G>T	uc001vnf.1	+	4	508	c.443G>T	c.(442-444)CGG>CTG	p.R148L	IPO5_uc001vne.2_Missense_Mutation_p.R166L|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.R88L	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	148					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						GTGGGACTGCGGGAAGCTGCC	0.378												
ARGLU1	55082	broad.mit.edu	37	13	107211856	107211856	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:107211856C>T	uc001vqk.3	-	2	744	c.497G>A	c.(496-498)CGC>CAC	p.R166H	ARGLU1_uc010age.1_5'UTR	NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	166	Glu-rich.										0	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TTCCATGATGCGTTTGGCTTC	0.478												
F7	2155	broad.mit.edu	37	13	113771897	113771897	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:113771897G>A	uc001vsv.2	+	8	843	c.792G>A	c.(790-792)CTG>CTA	p.L264L	F7_uc001vsw.2_Silent_p.L242L|F7_uc010tjt.1_Silent_p.L195L	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	264	Peptidase S1.		L -> P (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGAGGAACCTGATCGCGGTGC	0.627												
ADPRHL1	113622	broad.mit.edu	37	13	114107633	114107633	+	Silent	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr13:114107633G>T	uc001vtq.1	-	1	207	c.120C>A	c.(118-120)TCC>TCA	p.S40S		NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1 isoform 1	40					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CCAGGCCCCCGGAACGTTGCA	0.597												
OR4K5	79317	broad.mit.edu	37	14	20388906	20388906	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:20388906C>T	uc010tkw.1	+	1	141	c.141C>T	c.(139-141)CTC>CTT	p.L47L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	47	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCATTATCCTCACAGTGACTT	0.408												
FLJ10357	55701	broad.mit.edu	37	14	21549815	21549815	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:21549815G>A	uc001vzp.2	+	14	2817	c.2788G>A	c.(2788-2790)GGC>AGC	p.G930S	FLJ10357_uc001vzo.1_Missense_Mutation_p.G9S|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.G216S	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	930					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		CCTGGACCTGGGCAGCCCAGC	0.726												
SUPT16H	11198	broad.mit.edu	37	14	21826587	21826587	+	Splice_Site	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:21826587C>A	uc001wao.2	-	20	2641	c.2302_splice	c.e20-1	p.M768_splice	SUPT16H_uc001wan.2_5'Flank	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation						DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCGTTCCATCTGTAGAAGAA	0.348												
SUPT16H	11198	broad.mit.edu	37	14	21827659	21827659	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:21827659T>C	uc001wao.2	-	19	2624	c.2285A>G	c.(2284-2286)GAC>GGC	p.D762G	SUPT16H_uc001wan.2_5'Flank	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	762					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGCATAGAGGTCATCTCGGTC	0.448												
OXA1L	5018	broad.mit.edu	37	14	23236581	23236581	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:23236581G>T	uc001wgn.2	+	2	368	c.368G>T	c.(367-369)AGC>ATC	p.S123I	OXA1L_uc010tnc.1_Missense_Mutation_p.S123I|OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Missense_Mutation_p.S123I|OXA1L_uc001wgp.2_Missense_Mutation_p.S47I|OXA1L_uc001wgq.2_5'UTR	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	63	Mitochondrial intermembrane (Potential).				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)	1	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		GGCCCCCGCAGCCTCAGTACC	0.547												
CDH24	64403	broad.mit.edu	37	14	23518350	23518350	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:23518350G>A	uc001wil.2	-	12	2106	c.1846C>T	c.(1846-1848)CGC>TGC	p.R616C	CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.R578C	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	616	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGCTGGCAGCGGCACACACTA	0.647												
MYH7	4625	broad.mit.edu	37	14	23902765	23902765	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:23902765G>A	uc001wjx.2	-	3	283	c.177C>T	c.(175-177)GTC>GTT	p.V59V		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	59	Myosin head-like.		V -> I (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTCGGCAGTGACTTTGCCAC	0.567												
DCAF11	80344	broad.mit.edu	37	14	24588791	24588791	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:24588791T>G	uc001wlv.2	+	10	1152	c.872T>G	c.(871-873)GTC>GGC	p.V291G	DCAF11_uc001wlw.2_Missense_Mutation_p.V291G|DCAF11_uc001wlz.2_Missense_Mutation_p.V191G|DCAF11_uc001wly.2_Missense_Mutation_p.V247G|DCAF11_uc001wme.2_Missense_Mutation_p.V251G|DCAF11_uc010tny.1_Missense_Mutation_p.V158G|DCAF11_uc001wmd.2_Missense_Mutation_p.V291G|DCAF11_uc001wmc.2_Missense_Mutation_p.V191G|DCAF11_uc001wmb.3_Missense_Mutation_p.V265G|DCAF11_uc001wma.3_Missense_Mutation_p.V291G	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	291	WD 3.					CUL4 RING ubiquitin ligase complex	protein binding				0						TGCCTGTATGTCTTTGACCGA	0.512												
HECTD1	25831	broad.mit.edu	37	14	31598602	31598602	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:31598602G>A	uc001wrc.1	-	25	4464	c.3975C>T	c.(3973-3975)GGC>GGT	p.G1325G	HECTD1_uc001wrb.1_5'Flank|HECTD1_uc001wrd.1_Intron	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1325	MIB/HERC2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTCCTTCTGCGCCCATACGGT	0.512												
RALGAPA1	253959	broad.mit.edu	37	14	36074915	36074915	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:36074915G>A	uc001wti.2	-	35	5803	c.5412C>T	c.(5410-5412)TGC>TGT	p.C1804C	RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Silent_p.C1804C|RALGAPA1_uc010tpv.1_Silent_p.C1817C|RALGAPA1_uc010tpw.1_Silent_p.C1851C	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1804	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						GTGTCTCTCGGCTATAAAACA	0.323												
PRPF39	55015	broad.mit.edu	37	14	45578921	45578921	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:45578921G>A	uc001wvz.3	+	8	1284	c.1114G>A	c.(1114-1116)GTT>ATT	p.V372I	PRPF39_uc001wvy.3_Missense_Mutation_p.V251I|PRPF39_uc010and.2_Missense_Mutation_p.V162I|PRPF39_uc001wwa.1_5'Flank|SNORD127_uc010ane.2_5'Flank	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	PRP39 pre-mRNA processing factor 39 homolog	372	HAT 6.				mRNA processing|RNA splicing	nucleus	binding			ovary(1)|breast(1)	2						TCATGAACGAGTTGTGGTTCT	0.328												
SOS2	6655	broad.mit.edu	37	14	50586993	50586993	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:50586993C>A	uc001wxs.3	-	22	3587	c.3489G>T	c.(3487-3489)AAG>AAT	p.K1163N	SOS2_uc010ans.2_Translation_Start_Site|SOS2_uc010tql.1_Missense_Mutation_p.K1130N	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	1163					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGTTGATTACCTTGGAATTTG	0.358												
DDHD1	80821	broad.mit.edu	37	14	53558636	53558636	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:53558636T>C	uc001xai.2	-	4	1386	c.1156A>G	c.(1156-1158)ACC>GCC	p.T386A	DDHD1_uc001xaj.2_Missense_Mutation_p.T393A|DDHD1_uc001xah.2_Missense_Mutation_p.T386A|DDHD1_uc001xag.2_5'UTR	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	386					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					TGAAGTCTGGTACCACTACTT	0.323												
FUT8	2530	broad.mit.edu	37	14	66200014	66200014	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:66200014A>G	uc001xin.2	+	10	2522	c.1325A>G	c.(1324-1326)TAC>TGC	p.Y442C	FUT8_uc001xio.2_Missense_Mutation_p.Y442C|FUT8_uc010tsp.1_Missense_Mutation_p.Y279C|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.Y442C|FUT8_uc001xiq.2_Missense_Mutation_p.Y313C|FUT8_uc001xis.2_Missense_Mutation_p.Y36C	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	442	Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CACAATCGATACACAGAAAAT	0.373												
HEATR4	399671	broad.mit.edu	37	14	73973210	73973210	+	Silent	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:73973210G>T	uc010tub.1	-	10	2269	c.1947C>A	c.(1945-1947)GCC>GCA	p.A649A	HEATR4_uc010tua.1_Silent_p.A602A	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AAGCCTGGCAGGCCACAATCC	0.498												
ATG2B	55102	broad.mit.edu	37	14	96752149	96752149	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:96752149T>A	uc001yfi.2	-	42	6545	c.6180A>T	c.(6178-6180)CAA>CAT	p.Q2060H		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	2060										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTGGCCTAATTTGGTTTCTCA	0.547												
DEGS2	123099	broad.mit.edu	37	14	100615695	100615695	+	Silent	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:100615695G>T	uc001ygx.2	-	2	523	c.435C>A	c.(433-435)CCC>CCA	p.P145P		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	degenerative spermatocyte homolog 2, lipid	145					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity				0		Melanoma(154;0.212)				CCAGACGCGTGGGCACGTCCA	0.672												
HSP90AA1	3320	broad.mit.edu	37	14	102551160	102551160	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:102551160A>G	uc001yku.3	-	5	1029	c.839T>C	c.(838-840)ATT>ACT	p.I280T	HSP90AA1_uc001ykv.3_Missense_Mutation_p.I402T|HSP90AA1_uc001ykw.1_Missense_Mutation_p.I101T|HSP90AA1_uc001ykx.1_Missense_Mutation_p.I269T	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	280					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	cttttccttaatcttcttctt	0.259												
TNFAIP2	7127	broad.mit.edu	37	14	103598087	103598087	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:103598087T>C	uc001ymm.1	+	7	1541	c.1410T>C	c.(1408-1410)CAT>CAC	p.H470H	TNFAIP2_uc010awo.1_Silent_p.H182H|TNFAIP2_uc010txz.1_Silent_p.H139H|TNFAIP2_uc010tya.1_5'Flank	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	470					angiogenesis|cell differentiation	extracellular space				central_nervous_system(1)	1		Melanoma(154;0.155)	Epithelial(46;0.191)			AGAACCTGCATGAGGACCTGA	0.647												
AHNAK2	113146	broad.mit.edu	37	14	105418426	105418426	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:105418426T>C	uc010axc.1	-	7	3482	c.3362A>G	c.(3361-3363)GAT>GGT	p.D1121G	AHNAK2_uc001ypx.2_Missense_Mutation_p.D1021G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1121						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCTCCACATCAGGGGCTGT	0.652												
OCA2	4948	broad.mit.edu	37	15	28273032	28273032	+	Missense_Mutation	SNP	C	C	T	rs151118268		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:28273032C>T	uc001zbh.3	-	4	610	c.500G>A	c.(499-501)CGT>CAT	p.R167H	OCA2_uc010ayv.2_Missense_Mutation_p.R167H	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	167	Cytoplasmic (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)		CTTGGAAAGACGGAGTCGGAT	0.612									Oculocutaneous_Albinism			
HERC2	8924	broad.mit.edu	37	15	28447385	28447385	+	Silent	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:28447385G>T	uc001zbj.2	-	47	7597	c.7491C>A	c.(7489-7491)GCC>GCA	p.A2497A	HERC2_uc001zbk.1_Silent_p.A32A	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2497					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCCGACCAAGGCTTCCACAC	0.582												
HERC2	8924	broad.mit.edu	37	15	28538093	28538093	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:28538093G>T	uc001zbj.2	-	4	369	c.263C>A	c.(262-264)CCT>CAT	p.P88H	HERC2_uc001zbl.1_Translation_Start_Site	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	88					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TATAGGTGCAGGAGTTTCTTC	0.383												
TJP1	7082	broad.mit.edu	37	15	29993817	29993817	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:29993817G>A	uc001zcr.2	-	28	5704	c.5229C>T	c.(5227-5229)GTC>GTT	p.V1743V	TJP1_uc010azl.2_Silent_p.V1751V|TJP1_uc001zcq.2_Silent_p.V1687V|TJP1_uc001zcs.2_Silent_p.V1663V	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1743					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGTCAATAAGGACAGAAACAC	0.348												
SLC12A6	9990	broad.mit.edu	37	15	34628841	34628841	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:34628841C>T	uc001zhw.2	-	1	205	c.41G>A	c.(40-42)CGG>CAG	p.R14Q	SLC12A6_uc001zhx.2_Missense_Mutation_p.R14Q|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Intron|SLC12A6_uc001zib.2_Missense_Mutation_p.R5Q|SLC12A6_uc001zic.2_Missense_Mutation_p.R14Q|SLC12A6_uc010bau.2_Missense_Mutation_p.R14Q|SLC12A6_uc001zid.2_Intron	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	14	Cytoplasmic (Potential).				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CACCATGAACCGAACTGAAGC	0.468												
AQR	9716	broad.mit.edu	37	15	35198753	35198753	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:35198753A>G	uc001ziv.2	-	18	2005	c.1824T>C	c.(1822-1824)ATT>ATC	p.I608I		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	608						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TACCATCTTCAATGACACGTC	0.378												
TYRO3	7301	broad.mit.edu	37	15	41863254	41863254	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:41863254G>A	uc001zof.1	+	13	1822	c.1598G>A	c.(1597-1599)CGG>CAG	p.R533Q		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	533	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGTTCAGTGCGGGAGGCCCAG	0.552												
MGA	23269	broad.mit.edu	37	15	42057187	42057187	+	Silent	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:42057187G>T	uc010ucy.1	+	23	8029	c.7848G>T	c.(7846-7848)GTG>GTT	p.V2616V	MGA_uc010ucz.1_Silent_p.V2407V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2577						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAGGACCAGTGGTAGCTGTTT	0.493												
MGA	23269	broad.mit.edu	37	15	42059314	42059314	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:42059314C>T	uc010ucy.1	+	24	9215	c.9034C>T	c.(9034-9036)CCT>TCT	p.P3012S	MGA_uc010ucz.1_Missense_Mutation_p.P2803S	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2973						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAAGGTGATGCCTTGTTTGGC	0.488												
VPS39	23339	broad.mit.edu	37	15	42455911	42455911	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:42455911C>T	uc001zpd.2	-	21	2226	c.2075G>A	c.(2074-2076)CGA>CAA	p.R692Q	VPS39_uc001zpc.2_Missense_Mutation_p.R681Q|VPS39_uc001zpb.2_Missense_Mutation_p.R27Q	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39	692					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)|skin(1)	3		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CAGGAGAGCTCGTTCTTCTAA	0.512												
LCMT2	9836	broad.mit.edu	37	15	43621731	43621731	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:43621731G>A	uc001zrg.2	-	1	1161	c.957C>T	c.(955-957)CAC>CAT	p.H319H	LCMT2_uc010udn.1_5'UTR|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	319					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	ACACTAGGGTGTGGGAGAGGG	0.532												
ADAL	161823	broad.mit.edu	37	15	43628015	43628015	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:43628015C>T	uc010udo.1	+	5	759	c.185C>T	c.(184-186)ACT>ATT	p.T62I	ADAL_uc001zrh.2_Missense_Mutation_p.T62I	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN	adenosine deaminase-like isoform 1	62					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding				0		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		AAGAAAAGAACTTTGGAAGAG	0.363												
CTDSPL2	51496	broad.mit.edu	37	15	44806839	44806839	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:44806839G>A	uc001ztr.2	+	9	1429	c.1013G>A	c.(1012-1014)CGA>CAA	p.R338Q	CTDSPL2_uc001zts.2_Missense_Mutation_p.R338Q|CTDSPL2_uc001ztt.2_Missense_Mutation_p.R338Q|CTDSPL2_uc010bdv.2_Missense_Mutation_p.R266Q	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	338	FCP1 homology.						phosphoprotein phosphatase activity				0		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		TTCCTGGAACGAATGTCTCAG	0.299												
SLC12A1	6557	broad.mit.edu	37	15	48512844	48512844	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:48512844C>T	uc001zwn.3	+	3	650	c.434C>T	c.(433-435)ACC>ATC	p.T145I	SLC12A1_uc010uew.1_5'UTR|SLC12A1_uc010bem.2_Missense_Mutation_p.T145I|SLC12A1_uc010uex.1_Missense_Mutation_p.T145I|SLC12A1_uc001zwq.3_5'Flank	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	145	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTGGCAGTCACCCCAAGTTCA	0.398												
FBN1	2200	broad.mit.edu	37	15	48704804	48704804	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:48704804G>A	uc001zwx.1	-	65	8516	c.8188C>T	c.(8188-8190)CGG>TGG	p.R2730W	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2730					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGCTTCTCCGTTTCCTGCCC	0.507												
UNC13C	440279	broad.mit.edu	37	15	54914546	54914546	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:54914546T>C	uc002ack.2	+	29	6128	c.6128T>C	c.(6127-6129)GTG>GCG	p.V2043A	UNC13C_uc002acm.2_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	2043					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAAGATGCCGTGGGTCAGATA	0.413												
TLN2	83660	broad.mit.edu	37	15	62966048	62966048	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:62966048G>A	uc002alb.3	+	7	811	c.811G>A	c.(811-813)GAA>AAA	p.E271K		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	271	FERM.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						CCTGCCCAAAGAATATATCAA	0.358												
KBTBD13	390594	broad.mit.edu	37	15	65369263	65369263	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:65369263G>A	uc010uis.1	+	1	110	c.110G>A	c.(109-111)CGC>CAC	p.R37H	RASL12_uc010uir.1_5'Flank	NM_001101362	NP_001094832	C9JR72	KBTBD_HUMAN	hypothetical protein LOC390594	37	BTB.					cytoplasm					0						GGCCTCTTCCGCTCCGGCATG	0.721												
NOX5	79400	broad.mit.edu	37	15	69335087	69335087	+	Missense_Mutation	SNP	G	G	A	rs140448769	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:69335087G>A	uc002ars.1	+	10	1609	c.1589G>A	c.(1588-1590)CGT>CAT	p.R530H	NOX5_uc002arp.1_Missense_Mutation_p.R512H|NOX5_uc002arq.1_Missense_Mutation_p.R484H|NOX5_uc010bid.1_Missense_Mutation_p.R495H|NOX5_uc002arr.1_Missense_Mutation_p.R502H|NOX5_uc010bie.1_Missense_Mutation_p.R330H|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	530	FAD-binding FR-type.|Cytoplasmic (Potential).|C-terminal catalytic region.				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						CCACTGGGCCGTGGTTCTAAG	0.542												
PARP6	56965	broad.mit.edu	37	15	72549754	72549754	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:72549754C>T	uc002auc.2	-	12	1393	c.934G>A	c.(934-936)GTT>ATT	p.V312I	PARP6_uc002aua.2_Missense_Mutation_p.V157I|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.V312I	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	312							NAD+ ADP-ribosyltransferase activity				0						AAGGAGAAAACGCATAGTTCA	0.537												
TMEM202	338949	broad.mit.edu	37	15	72691037	72691037	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:72691037G>A	uc002auq.2	+	2	125	c.125G>A	c.(124-126)TGC>TAC	p.C42Y	TMEM202_uc002aur.2_Intron	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	transmembrane protein 202	42						integral to membrane				central_nervous_system(1)|skin(1)	2						TCGATGTCATGCCAAAGGCAG	0.522												
GOLGA6B	55889	broad.mit.edu	37	15	72956844	72956844	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:72956844C>T	uc010uks.1	+	13	1534	c.1493C>T	c.(1492-1494)CCG>CTG	p.P498L	uc002aux.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	golgi autoantigen, golgin subfamily a, 6B	498	Potential.										0						GTGGCTCTCCCGGGAGAAGGT	0.577												
ETFA	2108	broad.mit.edu	37	15	76585005	76585005	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:76585005T>C	uc002bbt.2	-	3	304	c.223A>G	c.(223-225)AAA>GAA	p.K75E	ETFA_uc010bkq.1_Missense_Mutation_p.K26E|ETFA_uc002bbu.1_Missense_Mutation_p.K75E	NM_000126	NP_000117	P13804	ETFA_HUMAN	electron transfer flavoprotein, alpha	75					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity				0						ACCAGAACTTTTGCTATGCCT	0.368												
MEX3B	84206	broad.mit.edu	37	15	82335957	82335957	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:82335957C>T	uc002bgq.1	-	2	1569	c.1254G>A	c.(1252-1254)GCG>GCA	p.A418A		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	418					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						CGTTGGAGGGCGCACTGGCGC	0.562												
KLHL25	64410	broad.mit.edu	37	15	86311599	86311599	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:86311599A>G	uc002bly.2	-	2	1646	c.1443T>C	c.(1441-1443)CCT>CCC	p.P481P		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	481	Kelch 4.					cytoplasm				ovary(2)	2						TGTACCGCCAAGGCTGGGGGC	0.607												
POLG	5428	broad.mit.edu	37	15	89872190	89872190	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:89872190G>A	uc002bns.3	-	4	1289	c.1007C>T	c.(1006-1008)GCC>GTC	p.A336V	POLG_uc002bnr.3_Missense_Mutation_p.A336V	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	336					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCCTCTTCTGGCTTTCCTCTG	0.632								DNA_polymerases_(catalytic_subunits)				
C15orf42	90381	broad.mit.edu	37	15	90164625	90164625	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:90164625C>G	uc002boe.2	+	19	3156	c.3156C>G	c.(3154-3156)GAC>GAG	p.D1052E	C15orf42_uc010upv.1_5'Flank	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1052					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GACTTGCAGACCAAAGAGAAA	0.348												
PRC1	9055	broad.mit.edu	37	15	91527282	91527282	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:91527282G>A	uc002bqm.2	-	3	390	c.233C>T	c.(232-234)ACT>ATT	p.T78I	PRC1_uc002bqn.2_Missense_Mutation_p.T78I|PRC1_uc002bqo.2_Missense_Mutation_p.T78I|PRC1_uc010uqs.1_Intron|PRC1_uc010uqt.1_Missense_Mutation_p.T26I	NM_003981	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1 isoform 1	78	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCTGCACAGAGTGTTCAGCTC	0.493												
CHD2	1106	broad.mit.edu	37	15	93552395	93552395	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:93552395C>T	uc002bsp.2	+	35	5009	c.4434C>T	c.(4432-4434)CCC>CCT	p.P1478P	CHD2_uc002bso.1_Silent_p.P1478P	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1478					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGATGAGGCCCGTGAAAAAGG	0.488												
RGMA	56963	broad.mit.edu	37	15	93588402	93588402	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:93588402G>A	uc002bss.1	-	4	1451	c.1179C>T	c.(1177-1179)GCC>GCT	p.A393A	RGMA_uc002bsq.1_Silent_p.A377A|RGMA_uc010boi.1_Silent_p.A284A|RGMA_uc002bsr.1_Silent_p.A284A|RGMA_uc010urc.1_Silent_p.A401A	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A precursor	393					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane					0	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CGTAGTAGGCGGCCAGTGTGA	0.607												
RGMA	56963	broad.mit.edu	37	15	93588679	93588679	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:93588679A>G	uc002bss.1	-	4	1174	c.902T>C	c.(901-903)GTC>GCC	p.V301A	RGMA_uc002bsq.1_Missense_Mutation_p.V285A|RGMA_uc010boi.1_Missense_Mutation_p.V192A|RGMA_uc002bsr.1_Missense_Mutation_p.V192A|RGMA_uc010urc.1_Missense_Mutation_p.V309A	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A precursor	301					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane					0	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CACAGCATTGACCACTTCCTC	0.627												
MCTP2	55784	broad.mit.edu	37	15	94841688	94841688	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:94841688G>A	uc002btj.2	+	1	259	c.194G>A	c.(193-195)GGC>GAC	p.G65D	MCTP2_uc010urg.1_Missense_Mutation_p.G65D|MCTP2_uc002bti.2_Missense_Mutation_p.G65D|MCTP2_uc010boj.2_5'UTR|MCTP2_uc010bok.2_Missense_Mutation_p.G65D|MCTP2_uc002btg.3_Missense_Mutation_p.G65D|MCTP2_uc002bth.3_Missense_Mutation_p.G65D	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	65					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GCCCCAGAGGGCCGGCCTTAC	0.612												
ARRDC4	91947	broad.mit.edu	37	15	98514379	98514379	+	Missense_Mutation	SNP	G	G	A	rs140102944		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:98514379G>A	uc010bom.2	+	8	1378	c.1219G>A	c.(1219-1221)GAC>AAC	p.D407N	ARRDC4_uc002bui.3_Missense_Mutation_p.D320N	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	407					signal transduction						0	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			ACATCCTAGCGACGTAGAAGA	0.383												
SOLH	6650	broad.mit.edu	37	16	601555	601555	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:601555G>A	uc002chi.2	+	9	2599	c.2236G>A	c.(2236-2238)GGC>AGC	p.G746S	SOLH_uc002chj.2_5'Flank	NM_005632	NP_005623	O75808	CAN15_HUMAN	small optic lobes	746	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(780;0.00335)				CTCCTGGAACGGCAGCTGGTC	0.667												
CACNA1H	8912	broad.mit.edu	37	16	1270167	1270167	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:1270167G>A	uc002cks.2	+	35	6483	c.6235G>A	c.(6235-6237)GTC>ATC	p.V2079I	CACNA1H_uc002ckt.2_Missense_Mutation_p.V2073I|CACNA1H_uc002cku.2_Missense_Mutation_p.V774I|CACNA1H_uc010brj.2_Missense_Mutation_p.V790I|CACNA1H_uc002ckv.2_Missense_Mutation_p.V768I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2079	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACAGCGCTGCGTCTCCAGCCG	0.736												
ZNF598	90850	broad.mit.edu	37	16	2050159	2050159	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:2050159G>T	uc002cof.1	-	11	1406	c.1391C>A	c.(1390-1392)CCT>CAT	p.P464H	ZNF598_uc002coe.1_Translation_Start_Site	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	464						intracellular	zinc ion binding			lung(1)|breast(1)	2						CAACCCCACAGGGCCCGGGGT	0.682												
TSC2	7249	broad.mit.edu	37	16	2106227	2106227	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:2106227G>A	uc002con.2	+	7	736	c.630G>A	c.(628-630)GCG>GCA	p.A210A	TSC2_uc010bsd.2_Silent_p.A210A|TSC2_uc002coo.2_Silent_p.A210A|TSC2_uc010uvv.1_Silent_p.A173A|TSC2_uc010uvw.1_Silent_p.A161A|TSC2_uc002cop.2_Silent_p.A10A	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	210	Required for interaction with TSC1.			A -> V (in Ref. 9; AAI50301).	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				TCCGGACCGCGTCCTCTGTGG	0.532			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
RAB26	25837	broad.mit.edu	37	16	2203418	2203418	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:2203418C>A	uc002cou.2	+	9	901	c.767C>A	c.(766-768)CCT>CAT	p.P256H	RAB26_uc010bsf.2_Missense_Mutation_p.P190H|TRAF7_uc002cow.2_5'Flank	NM_014353	NP_055168	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	256					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding				0						TGCTGCCGCCCTTGAACCTGG	0.627												
PKMYT1	9088	broad.mit.edu	37	16	3023060	3023060	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:3023060G>A	uc002csn.2	-	9	1837	c.1394C>T	c.(1393-1395)GCC>GTC	p.A465V	PAQR4_uc002csj.3_3'UTR|PAQR4_uc002csk.3_3'UTR|PAQR4_uc002csl.3_3'UTR|PAQR4_uc010uwm.1_3'UTR|PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Missense_Mutation_p.P478S|PKMYT1_uc002cso.2_Missense_Mutation_p.A396V|PKMYT1_uc002csp.2_Missense_Mutation_p.A456V|PKMYT1_uc002csq.2_Missense_Mutation_p.A456V	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	protein kinase Myt1 isoform 1	465	Interaction with CDC2-CCNB1.|Interaction with PIN1.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1						TAGGTCCAGGGCATCCCTGGG	0.612												
CLDN9	9080	broad.mit.edu	37	16	3063922	3063922	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:3063922C>A	uc010uwo.1	+	1	1466	c.559C>A	c.(559-561)CCG>ACG	p.P187T		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	187	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CACGTGCCCCCCGCCCCAGGT	0.721												
CREBBP	1387	broad.mit.edu	37	16	3820836	3820836	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:3820836G>A	uc002cvv.2	-	14	2819	c.2615C>T	c.(2614-2616)ACG>ATG	p.T872M	CREBBP_uc002cvw.2_Missense_Mutation_p.T834M	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	872					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGTGGTGTCGTGTGCTGGAG	0.637			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
ROGDI	79641	broad.mit.edu	37	16	4847715	4847715	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:4847715C>A	uc002cxv.2	-	10	924	c.822G>T	c.(820-822)AAG>AAT	p.K274N	ROGDI_uc002cxu.2_Missense_Mutation_p.K184N|ROGDI_uc010bua.2_RNA|ROGDI_uc002cxw.2_Missense_Mutation_p.K184N	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	leucine zipper domain protein	274						intracellular				ovary(1)|skin(1)	2						CCGGGCCCACCTTGTCCTTGA	0.627												
UBN1	29855	broad.mit.edu	37	16	4925334	4925334	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:4925334G>A	uc002cyb.2	+	15	3262	c.2923G>A	c.(2923-2925)GGA>AGA	p.G975R	UBN1_uc010uxw.1_Missense_Mutation_p.G975R|UBN1_uc002cyc.2_Missense_Mutation_p.G975R	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	975	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						CGGTCCAAACGGAGATTCCAG	0.577												
USP7	7874	broad.mit.edu	37	16	8999108	8999108	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:8999108G>A	uc002czl.2	-	14	1708	c.1509C>T	c.(1507-1509)GAC>GAT	p.D503D	USP7_uc010uyk.1_Silent_p.D404D|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.D404D|USP7_uc002czk.2_Silent_p.D487D|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	503					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						CAGACAGGTCGTCATCGTGAC	0.423											OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CIITA	4261	broad.mit.edu	37	16	11000900	11000900	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:11000900G>A	uc002dai.3	+	11	1684	c.1551G>A	c.(1549-1551)CCG>CCA	p.P517P	CIITA_uc002daj.3_Silent_p.P518P|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Silent_p.P517P|CIITA_uc002dah.2_Silent_p.P469P|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	517	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						CGTGCGGACCGGCACCGGCGG	0.662			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|							
KIAA0430	9665	broad.mit.edu	37	16	15718923	15718923	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:15718923C>T	uc002ddr.2	-	9	2254	c.2061G>A	c.(2059-2061)TCG>TCA	p.S687S	KIAA0430_uc002ddq.2_Silent_p.S543S|KIAA0430_uc010uzv.1_Silent_p.S683S|KIAA0430_uc010uzw.1_Silent_p.S685S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	686						peroxisome	nucleotide binding|RNA binding				0						TTTTCGGCGTCGACACTGCAG	0.498												
C16orf63	123811	broad.mit.edu	37	16	15967449	15967449	+	Missense_Mutation	SNP	C	C	T	rs149912065	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:15967449C>T	uc002dec.1	-	4	352	c.347G>A	c.(346-348)CGT>CAT	p.R116H	C16orf63_uc002ded.1_Intron	NM_144600	NP_653201	Q96NB1	FOPNL_HUMAN	hypothetical protein LOC123811	116					cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding				0						CTTAGTTCCACGCAAGAAATG	0.408												
TMC7	79905	broad.mit.edu	37	16	19020719	19020719	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:19020719C>A	uc002dfq.2	+	2	423	c.293C>A	c.(292-294)TCT>TAT	p.S98Y	TMC7_uc010vao.1_Missense_Mutation_p.S98Y|TMC7_uc002dfp.2_Missense_Mutation_p.S98Y|TMC7_uc010vap.1_Translation_Start_Site	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	98	Extracellular (Potential).					integral to membrane				skin(2)|ovary(1)	3						CTGAACATCTCTGAGAAGCGG	0.468												
ITPRIPL2	162073	broad.mit.edu	37	16	19126435	19126435	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:19126435T>C	uc002dfu.3	+	1	1182	c.652T>C	c.(652-654)TCG>CCG	p.S218P	ITPRIPL2_uc002dft.2_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	218	Cytoplasmic (Potential).					integral to membrane				skin(2)	2						ACCCTCACCATCGGGGGCCTC	0.692											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DNAH3	55567	broad.mit.edu	37	16	20990740	20990740	+	Missense_Mutation	SNP	G	G	A	rs145375625	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:20990740G>A	uc010vbe.1	-	50	7988	c.7988C>T	c.(7987-7989)ACG>ATG	p.T2663M	DNAH3_uc010vbd.1_Missense_Mutation_p.T98M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2663	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ATTCAGGAGCGTCTTGAAGGT	0.483												
DNAH3	55567	broad.mit.edu	37	16	21136501	21136501	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:21136501G>A	uc010vbe.1	-	9	1399	c.1399C>T	c.(1399-1401)CAC>TAC	p.H467Y	DNAH3_uc002die.2_Missense_Mutation_p.H438Y	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	467	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CTTACTTTGTGTATCATGAAA	0.468												
VWA3A	146177	broad.mit.edu	37	16	22166968	22166968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:22166968G>A	uc010vbq.1	+	32	3582	c.3486G>A	c.(3484-3486)TGG>TGA	p.W1162*	VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_Nonsense_Mutation_p.W240*|VWA3A_uc010bxe.1_Nonsense_Mutation_p.W264*	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1162						extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)		GCTTCCTCTGGCAGGCCCAAT	0.572												
TNRC6A	27327	broad.mit.edu	37	16	24802194	24802194	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:24802194G>A	uc002dmm.2	+	6	2345	c.2231G>A	c.(2230-2232)CGA>CAA	p.R744Q	TNRC6A_uc010bxs.2_Missense_Mutation_p.R491Q|TNRC6A_uc010vcc.1_Missense_Mutation_p.R491Q|TNRC6A_uc002dmn.2_Missense_Mutation_p.R491Q|TNRC6A_uc002dmo.2_Missense_Mutation_p.R491Q	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	744	Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		AGAGGGGAACGAAAGACTGAC	0.478												
GTF3C1	2975	broad.mit.edu	37	16	27540000	27540000	+	Missense_Mutation	SNP	G	G	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:27540000G>C	uc002dov.1	-	6	932	c.892C>G	c.(892-894)CTG>GTG	p.L298V	GTF3C1_uc002dou.2_Missense_Mutation_p.L298V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	298						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCGGCGTTCAGCATATACTGG	0.468												
CD19	930	broad.mit.edu	37	16	28948647	28948647	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:28948647C>T	uc002drs.2	+	9	1316	c.1254C>T	c.(1252-1254)TCC>TCT	p.S418S	uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.S418S	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	418	Cytoplasmic (Potential).				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						AGGAGGACTCCGAGTTCTATG	0.637												
TAOK2	9344	broad.mit.edu	37	16	29990825	29990825	+	Missense_Mutation	SNP	G	G	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:29990825G>C	uc002dva.1	+	8	1434	c.651G>C	c.(649-651)GAG>GAC	p.E217D	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.E217D|TAOK2_uc002dvc.1_Missense_Mutation_p.E217D|TAOK2_uc010bzm.1_Missense_Mutation_p.E217D|TAOK2_uc002dvd.1_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	217	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CCTGCATCGAGCTGGGTAAGA	0.547												
HIRIP3	8479	broad.mit.edu	37	16	30005879	30005879	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:30005879C>T	uc002dve.2	-	4	1048	c.587G>A	c.(586-588)AGT>AAT	p.S196N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Intron	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	196	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)	1						GCTCTCCTCACTTTCTTCCCT	0.512												
SRCAP	10847	broad.mit.edu	37	16	30748452	30748452	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:30748452C>T	uc002dze.1	+	34	7476	c.7091C>T	c.(7090-7092)CCG>CTG	p.P2364L	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.P2159L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2364					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			GAGGAGGGGCCGGGGGCTGGG	0.632												
PHKG2	5261	broad.mit.edu	37	16	30762482	30762482	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:30762482G>A	uc002dzk.1	+	3	244	c.151G>A	c.(151-153)GCG>ACG	p.A51T	PHKG2_uc002dzi.1_Missense_Mutation_p.A51T|PHKG2_uc002dzj.1_5'UTR|PHKG2_uc002dzl.1_Missense_Mutation_p.A51T	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	51	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			CCACGAGTTTGCGGTGAAGAT	0.582												
SETD1A	9739	broad.mit.edu	37	16	30976142	30976142	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:30976142G>A	uc002ead.1	+	7	1765	c.1079G>A	c.(1078-1080)CGT>CAT	p.R360H		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	360	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						tcTCAGTTTCGTAGTTCTGAT	0.383												
HSD3B7	80270	broad.mit.edu	37	16	30998233	30998233	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:30998233A>G	uc002eaf.2	+	6	710	c.604A>G	c.(604-606)ATG>GTG	p.M202V	HSD3B7_uc010cac.2_Intron|HSD3B7_uc002eag.2_Intron|HSD3B7_uc002eah.2_Missense_Mutation_p.M202V	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	202					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0						CCACCAGATCATGAGGGACTT	0.657												
ABCC12	94160	broad.mit.edu	37	16	48180287	48180287	+	Missense_Mutation	SNP	G	G	A	rs41280929		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:48180287G>A	uc002efc.1	-	1	395	c.49C>T	c.(49-51)CGG>TGG	p.R17W	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.R17W|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	17						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				GATCTCCGCCGGCCTCGCTGG	0.572												
ZNF423	23090	broad.mit.edu	37	16	49669949	49669949	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:49669949A>G	uc002efs.2	-	5	3412	c.3114T>C	c.(3112-3114)CAT>CAC	p.H1038H	ZNF423_uc010vgn.1_Silent_p.H921H	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1038	C2H2-type 24.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GGAAGGTGCCATGGATCTTGA	0.617												
CHD9	80205	broad.mit.edu	37	16	53358288	53358288	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:53358288G>T	uc002ehb.2	+	38	8339	c.8175G>T	c.(8173-8175)TTG>TTT	p.L2725F	CHD9_uc002egy.2_Missense_Mutation_p.L2709F|CHD9_uc002ehc.2_Missense_Mutation_p.L2710F|CHD9_uc002ehf.2_Missense_Mutation_p.L1823F|CHD9_uc010cbw.2_Missense_Mutation_p.L791F	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2725	LXXLL motif 4.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				CAAATCTGTTGGGCATGGGAG	0.493												
SLC12A3	6559	broad.mit.edu	37	16	56924230	56924230	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:56924230G>A	uc010ccm.2	+	19	2359	c.2330G>A	c.(2329-2331)CGG>CAG	p.R777Q	SLC12A3_uc002ekd.3_Missense_Mutation_p.R777Q|SLC12A3_uc010ccn.2_Missense_Mutation_p.R776Q	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	777	Cytoplasmic (Potential).				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ATGAGGATGCGGGAGGGACTC	0.517												
GPR114	221188	broad.mit.edu	37	16	57604383	57604383	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:57604383G>A	uc002elx.3	+	10	1229	c.1144G>A	c.(1144-1146)GGA>AGA	p.G382R	GPR114_uc010vhr.1_Intron|GPR114_uc002ely.2_Missense_Mutation_p.G382R	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	382	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						CTCGGTATACGGACCCTGCAC	0.622												
GPR97	222487	broad.mit.edu	37	16	57718088	57718088	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:57718088G>A	uc002emh.2	+	9	1229	c.1126G>A	c.(1126-1128)GGG>AGG	p.G376R	GPR97_uc010vhv.1_Missense_Mutation_p.G256R|GPR97_uc010cdd.2_Intron|GPR97_uc010cde.2_Intron	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	376	Helical; Name=4; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1						CACCTACTTCGGGCACTACTT	0.582												
CES2	8824	broad.mit.edu	37	16	66974389	66974389	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:66974389G>A	uc002eqr.2	+	5	1799	c.799G>A	c.(799-801)GCT>ACT	p.A267T	CES2_uc002eqq.2_Missense_Mutation_p.A267T|CES2_uc002eqs.2_Missense_Mutation_p.A110T	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	203					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGACCAAGTGGCTGCACTACG	0.607												
B3GNT9	84752	broad.mit.edu	37	16	67183798	67183798	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:67183798G>A	uc002erf.2	-	2	912	c.591C>T	c.(589-591)TTC>TTT	p.F197F	uc002erg.1_Silent_p.S67S	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	197	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0						AGGTGTCGTCGAAGGCCCAGA	0.637												
CDH3	1001	broad.mit.edu	37	16	68714935	68714935	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:68714935C>T	uc002ewf.2	+	8	2064	c.932C>T	c.(931-933)ACG>ATG	p.T311M	CDH3_uc010vli.1_Missense_Mutation_p.T256M	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	311	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TCCACCACCACGGCAGTGGCA	0.547												
CDH1	999	broad.mit.edu	37	16	68847398	68847398	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:68847398G>T	uc002ewg.1	+	9	1444	c.1320G>T	c.(1318-1320)AAG>AAT	p.K440N	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	440	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(5)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AAACAGCAAAGGTTTGTATGG	0.458			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer			
HYDIN	54768	broad.mit.edu	37	16	70867810	70867810	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:70867810G>A	uc002ezr.2	-	79	13784	c.13656C>T	c.(13654-13656)AAC>AAT	p.N4552N	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4553										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CATCGCCTGTGTTCATCATGA	0.582												
FA2H	79152	broad.mit.edu	37	16	74752999	74752999	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:74752999G>T	uc002fde.1	-	5	741	c.673C>A	c.(673-675)CTC>ATC	p.L225I	FA2H_uc002fdd.1_5'Flank|FA2H_uc010vmy.1_RNA	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	225	Helical; (Potential).				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity				0						AGGCTCCAGAGGAATGTCCCC	0.592												
CHST5	23563	broad.mit.edu	37	16	75563882	75563882	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:75563882G>A	uc002fei.2	-	3	1796	c.401C>T	c.(400-402)CCA>CTA	p.P134L	CHST5_uc002fej.1_Missense_Mutation_p.P140L	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	134	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						TCGGCTCTGTGGCATGTAGGC	0.632												
CHST5	23563	broad.mit.edu	37	16	75563934	75563934	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:75563934G>A	uc002fei.2	-	3	1744	c.349C>T	c.(349-351)CTG>TTG	p.L117L	CHST5_uc002fej.1_Silent_p.L123L	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	117	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GAGCGCATCAGGTCGCGCACG	0.617												
MON1B	22879	broad.mit.edu	37	16	77227571	77227571	+	Silent	SNP	G	G	A	rs151075634		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:77227571G>A	uc002fez.2	+	3	702	c.372G>A	c.(370-372)TCG>TCA	p.S124S	MON1B_uc010vnf.1_Intron|MON1B_uc010vng.1_Intron|MON1B_uc002ffa.2_5'Flank	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	124							protein binding				0						CCATCTACTCGCGGTATGGTA	0.617												
C16orf7	9605	broad.mit.edu	37	16	89783151	89783151	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:89783151C>T	uc002fom.1	-	3	380	c.255G>A	c.(253-255)ACG>ACA	p.T85T	C16orf7_uc002fol.1_Silent_p.T15T|uc002fon.1_RNA|uc002foo.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	85					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCTTGGCGGCCGTCGACTGGG	0.652												
GEMIN4	50628	broad.mit.edu	37	17	650231	650231	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:650231C>T	uc002frs.1	-	2	1171	c.1052G>A	c.(1051-1053)AGT>AAT	p.S351N	GEMIN4_uc010vqa.1_3'UTR	NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	351					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GGAAGTCAGACTGTCGCACAG	0.637												
SMYD4	114826	broad.mit.edu	37	17	1704002	1704002	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:1704002G>T	uc002ftm.3	-	5	854	c.686C>A	c.(685-687)TCC>TAC	p.S229Y	SMYD4_uc002ftn.1_Missense_Mutation_p.S84Y	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	229							zinc ion binding			skin(3)|kidney(2)	5						TGAGGCATTGGAAAGTTGTTC	0.498												
METT10D	79066	broad.mit.edu	37	17	2323543	2323543	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:2323543T>C	uc002fut.2	-	10	1558	c.1410A>G	c.(1408-1410)GAA>GAG	p.E470E	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Silent_p.E252E	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	470							methyltransferase activity				0						CCCCTCCCTTTTCCTCACTCC	0.622												
MED31	51003	broad.mit.edu	37	17	6547901	6547901	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:6547901C>T	uc002gdg.3	-	4	388	c.282G>A	c.(280-282)GCG>GCA	p.A94A	MED31_uc002gdh.3_RNA	NM_016060	NP_057144	Q9Y3C7	MED31_HUMAN	mediator of RNA polymerase II transcription,	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding				0						CAATAAATTTCGCACACTGAG	0.458												
AMAC1L3	643664	broad.mit.edu	37	17	7385797	7385797	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:7385797G>T	uc010cmj.1	+	2	609	c.494G>T	c.(493-495)AGC>ATC	p.S165I	ZBTB4_uc002ghc.3_5'Flank|ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN	acyl-malonyl condensing enzyme 1-like 3	165	DUF6 1.|Helical; (Potential).					integral to membrane					0		Prostate(122;0.173)				CTGTTGGGCAGCATCCTAGGA	0.587												
POLR2A	5430	broad.mit.edu	37	17	7399844	7399844	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:7399844G>A	uc002ghf.3	+	4	683	c.449G>A	c.(448-450)GGC>GAC	p.G150D	POLR2A_uc002ghe.2_Missense_Mutation_p.G150D	NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	150					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				CTTTGCAAGGGCAAAAACATA	0.537												
CD68	968	broad.mit.edu	37	17	7483329	7483329	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:7483329C>G	uc002ghv.2	+	2	442	c.251C>G	c.(250-252)ACC>AGC	p.T84S	CD68_uc002ghu.2_Missense_Mutation_p.T57S	NM_001251	NP_001242	P34810	CD68_HUMAN	CD68 antigen isoform A	84	Mucin-like.|Extracellular (Potential).|1.|2 X 30 AA tandem repeats.					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane					0						cccaccaccaccaGCCATGGA	0.328												
TP53	7157	broad.mit.edu	37	17	7579348	7579348	+	Missense_Mutation	SNP	G	G	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:7579348G>C	uc002gim.2	-	4	533	c.339C>G	c.(337-339)TTC>TTG	p.F113L	TP53_uc002gig.1_Missense_Mutation_p.F113L|TP53_uc002gih.2_Missense_Mutation_p.F113L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.F113L|TP53_uc010cni.1_Missense_Mutation_p.F113L|TP53_uc002gij.2_Missense_Mutation_p.F113L|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.F74L|TP53_uc010cnk.1_Missense_Mutation_p.F128L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	113	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).		F -> L (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|F -> S (in sporadic cancers; somatic mutation).|F -> I (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F113C(8)|p.0?(7)|p.F113S(4)|p.F113V(4)|p.F113L(3)|p.G59fs*23(3)|p.F113del(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.G112fs*9(1)|p.Y107fs*44(1)|p.G112_S116delGFLHS(1)|p.P13fs*18(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGAATGCAAGAAGCCCAGAC	0.602		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
AURKB	9212	broad.mit.edu	37	17	8108691	8108691	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:8108691C>T	uc002gkm.2	-	8	765	c.704G>A	c.(703-705)GGC>GAC	p.G235D	AURKB_uc010cnu.2_Missense_Mutation_p.G55D|AURKB_uc002gkn.2_Missense_Mutation_p.G236D|AURKB_uc010vuu.1_Missense_Mutation_p.G194D|AURKB_uc002gko.2_RNA	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	235	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(1)|central_nervous_system(1)	4						GTCCAGGGTGCCACACATTGT	0.577												
WDR16	146845	broad.mit.edu	37	17	9546391	9546391	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:9546391C>G	uc002gly.2	+	14	1808	c.1739C>G	c.(1738-1740)ACT>AGT	p.T580S	USP43_uc002gma.3_5'Flank|USP43_uc010cod.2_5'Flank|USP43_uc010vva.1_5'Flank|WDR16_uc002glz.2_Missense_Mutation_p.T512S|WDR16_uc010coc.2_Missense_Mutation_p.T590S	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	580	WD 10.					cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						GGTGAAGTGACTCACGTTGGG	0.443												
GAS7	8522	broad.mit.edu	37	17	9828811	9828811	+	Missense_Mutation	SNP	T	T	C	rs145454710		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:9828811T>C	uc002gmg.1	-	11	1281	c.1120A>G	c.(1120-1122)AGA>GGA	p.R374G	GAS7_uc010vvc.1_Missense_Mutation_p.R188G|GAS7_uc002gmh.1_Missense_Mutation_p.R234G|GAS7_uc010vvd.1_Missense_Mutation_p.R326G|GAS7_uc002gmi.2_Missense_Mutation_p.R310G|GAS7_uc002gmj.1_Missense_Mutation_p.R314G|GAS7_uc010coh.1_Missense_Mutation_p.R314G	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	374	Potential.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						GTGGACTTTCTCCGCGCCTTC	0.597			T	MLL	AML*						OREG0024170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MYH2	4620	broad.mit.edu	37	17	10436629	10436629	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:10436629A>G	uc010coi.2	-	21	2542	c.2414T>C	c.(2413-2415)GTG>GCG	p.V805A	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.V805A|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	805	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CTGGTACTCCACTCTTGCCAA	0.458												
MYO15A	51168	broad.mit.edu	37	17	18034842	18034842	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:18034842T>C	uc010vxh.1	+	9	4541	c.4203T>C	c.(4201-4203)TTT>TTC	p.F1401F		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1401	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GGATCGTGTTTCAGGTGGGCC	0.612												
LLGL1	3996	broad.mit.edu	37	17	18144927	18144927	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:18144927G>A	uc002gsp.2	+	18	2726	c.2665G>A	c.(2665-2667)GTC>ATC	p.V889I		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	889	WD 13.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					TGACGTCCACGTCTTCTCGGT	0.637												
SLC13A2	9058	broad.mit.edu	37	17	26817589	26817589	+	Missense_Mutation	SNP	G	G	A	rs11568463		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:26817589G>A	uc002hbh.2	+	3	416	c.349G>A	c.(349-351)GTT>ATT	p.V117I	SLC13A2_uc010wal.1_Missense_Mutation_p.V74I|SLC13A2_uc010wam.1_Missense_Mutation_p.V73I|SLC13A2_uc010wan.1_Missense_Mutation_p.V166I|SLC13A2_uc010wao.1_Missense_Mutation_p.V74I|SLC13A2_uc002hbi.2_Missense_Mutation_p.V46I	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	117	Helical; (Potential).					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCTCCTCATCGTTGGGGTGCG	0.607												
FOXN1	8456	broad.mit.edu	37	17	26861463	26861463	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:26861463C>A	uc010crm.2	+	7	1240	c.1042C>A	c.(1042-1044)CTC>ATC	p.L348I	FOXN1_uc002hbj.2_Missense_Mutation_p.L348I	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	348	Fork-head.				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	Lung NSC(42;0.00431)					CCTGTGGGCCCTCAATCCGGC	0.537												
RASL10B	91608	broad.mit.edu	37	17	34062267	34062267	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:34062267C>T	uc002hju.2	+	2	430	c.64C>T	c.(64-66)CGC>TGC	p.R22C		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B precursor	22	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			lung(2)|breast(2)	4				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCCATCGTGCGCCAGTTCTT	0.672												
ACACA	31	broad.mit.edu	37	17	35687288	35687288	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:35687288G>A	uc002hnm.2	-	3	243	c.52C>T	c.(52-54)CGA>TGA	p.R18*	ACACA_uc002hnn.2_Nonsense_Mutation_p.R18*|ACACA_uc002hno.2_Nonsense_Mutation_p.R55*|ACACA_uc010cuz.2_Nonsense_Mutation_p.R18*|ACACA_uc002hnq.2_5'UTR|ACACA_uc002hnp.1_RNA|ACACA_uc002hnr.1_RNA	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	18					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATTATGAATCGAGAGTGCTGG	0.473												
PLXDC1	57125	broad.mit.edu	37	17	37243886	37243886	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:37243886G>A	uc002hrg.2	-	8	1093	c.881C>T	c.(880-882)TCG>TTG	p.S294L	uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Missense_Mutation_p.S2L|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	294	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3						CTCCACGGCCGACATGCTGGT	0.433												
C17orf37	84299	broad.mit.edu	37	17	37885823	37885823	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:37885823T>G	uc002hsq.2	-	4	340	c.300A>C	c.(298-300)GAA>GAC	p.E100D		NM_032339	NP_115715	Q9BRT3	CQ037_HUMAN	hypothetical protein LOC84299	100					cell redox homeostasis	cytosol|membrane	selenium binding				0	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;3.72e-63)|all cancers(3;1.87e-56)|BRCA - Breast invasive adenocarcinoma(8;6.8e-45)|STAD - Stomach adenocarcinoma(3;1.43e-12)|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)			TTTCTAGGGTTTCTCCATTAC	0.547												
PSMD3	5709	broad.mit.edu	37	17	38142881	38142881	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:38142881G>A	uc002htn.1	+	3	629	c.465G>A	c.(463-465)GCG>GCA	p.A155A	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.A56A	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	155					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					GAAAAGCTGCGTCGACACCCC	0.522												
THRA	7067	broad.mit.edu	37	17	38233862	38233862	+	Splice_Site	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:38233862G>A	uc002htw.2	+	4	705	c.222_splice	c.e4+1	p.K74_splice	THRA_uc010cwp.1_Splice_Site_p.K74_splice|THRA_uc002htv.2_Splice_Site_p.K74_splice|THRA_uc002htx.2_Splice_Site_p.K74_splice	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2						negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GGGCTGCAAGGTATGGAAGCT	0.507												
KRT12	3859	broad.mit.edu	37	17	39019563	39019563	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:39019563G>A	uc002hvk.2	-	6	1152	c.1128C>T	c.(1126-1128)GCC>GCT	p.A376A		NM_000223	NP_000214	Q99456	K1C12_HUMAN	keratin 12	376	Rod.|Coil 2.				visual perception	intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				AATCGCCCTCGGCTTCGGCCA	0.612												
KRT33B	3884	broad.mit.edu	37	17	39525807	39525807	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:39525807G>T	uc002hwl.2	-	1	241	c.196C>A	c.(196-198)CGC>AGC	p.R66S		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	66	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				CTGGCCAGGCGGTCGTTCAGG	0.617												
JUP	3728	broad.mit.edu	37	17	39680055	39680055	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:39680055G>A	uc010wfs.1	-	9	1640	c.1632C>T	c.(1630-1632)CGC>CGT	p.R544R	KRT15_uc002hxb.1_5'Flank|uc002hxc.1_5'Flank|KRT19_uc002hxd.3_Silent_p.R381R	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	Error:Variant_position_missing_in_P14923_after_alignment					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CGAGCAGGCTGCGGTAGGTGG	0.587												
JUP	3728	broad.mit.edu	37	17	39680717	39680717	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:39680717C>T	uc010wfs.1	-	7	1233	c.1225G>A	c.(1225-1227)GCC>ACC	p.A409T	KRT15_uc002hxb.1_5'Flank|uc002hxc.1_5'Flank|KRT19_uc002hxd.3_Missense_Mutation_p.A246T	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	Error:Variant_position_missing_in_P14923_after_alignment					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		AGGATCTTGGCGAGATCGGTG	0.577												
FKBP10	60681	broad.mit.edu	37	17	39969513	39969513	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:39969513G>A	uc002hxv.2	+	1	552	c.227G>A	c.(226-228)GGC>GAC	p.G76D	SC65_uc002hxt.2_5'Flank|SC65_uc002hxu.2_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	76	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TTTGAAGATGGCAAGAAGTTT	0.562												
HSD17B1	3292	broad.mit.edu	37	17	40706846	40706846	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:40706846G>A	uc002hzw.2	+	6	1845	c.877G>A	c.(877-879)GAG>AAG	p.E293K	HSD17B1_uc002hzx.2_Missense_Mutation_p.E294K|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_5'Flank|HSD17B1_uc010cyi.2_Missense_Mutation_p.E324K	NM_000413	NP_000404	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	293					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity				0		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	GGCAAAggccgaggctggggc	0.552												
NBR1	4077	broad.mit.edu	37	17	41341640	41341640	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:41341640G>A	uc010czd.2	+	8	656	c.516G>A	c.(514-516)AAG>AAA	p.K172K	NBR1_uc010diz.2_Silent_p.K172K|NBR1_uc010whu.1_Silent_p.K172K|NBR1_uc010whv.1_Silent_p.K172K|NBR1_uc010whw.1_Silent_p.K151K|NBR1_uc010whx.1_5'Flank	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	172					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CGGTTGAGAAGCTTGAACAGA	0.388												
HEXIM2	124790	broad.mit.edu	37	17	43246699	43246699	+	Silent	SNP	C	C	T	rs150581722		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:43246699C>T	uc002iih.1	+	4	623	c.384C>T	c.(382-384)CGC>CGT	p.R128R	HEXIM2_uc010daf.1_Silent_p.R150R|HEXIM2_uc002iii.1_Silent_p.R128R|HEXIM2_uc002iij.1_Silent_p.R128R|uc002iik.1_RNA	NM_144608	NP_653209	Q96MH2	HEXI2_HUMAN	hexamthylene bis-acetamide inducible 2	128					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding				0						CCCGGGTCCGCGAAGAGATGT	0.627												
WNT3	7473	broad.mit.edu	37	17	44845923	44845923	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:44845923G>A	uc002ikv.2	-	4	950	c.831C>T	c.(829-831)TAC>TAT	p.Y277Y		NM_030753	NP_110380	P56703	WNT3_HUMAN	wingless-type MMTV integration site family,	277					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGGAGTTCTCGTAGTAGACCA	0.602												
ITGB3	3690	broad.mit.edu	37	17	45380143	45380143	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:45380143G>A	uc002ilj.2	+	13	2091	c.2071G>A	c.(2071-2073)GTC>ATC	p.V691I	ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	691	Extracellular (Potential).				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	TGACTGTGTCGTCAGATTCCA	0.488												
SGCA	6442	broad.mit.edu	37	17	48252649	48252649	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:48252649G>T	uc002iqi.2	+	9	1051	c.1015G>T	c.(1015-1017)GGG>TGG	p.G339W	SGCA_uc002iqj.2_Missense_Mutation_p.G215W|SGCA_uc010wmi.1_RNA|HILS1_uc010wmj.1_5'Flank|HILS1_uc002iqk.2_Intron|HILS1_uc002iql.2_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	339	Cytoplasmic (Potential).				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						CACCATCCACGGGAACACAGA	0.647												
TEX14	56155	broad.mit.edu	37	17	56700344	56700344	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:56700344T>C	uc010dcz.1	-	4	399	c.281A>G	c.(280-282)CAT>CGT	p.H94R	TEX14_uc002iwr.1_Missense_Mutation_p.H94R|TEX14_uc002iws.1_Missense_Mutation_p.H94R|TEX14_uc010dda.1_5'UTR	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	94	ANK 3.					cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCTGCTGCATGGACAGGGGT	0.562												
MED13	9969	broad.mit.edu	37	17	60062071	60062071	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:60062071C>T	uc002izo.2	-	14	2709	c.2632G>A	c.(2632-2634)GCG>ACG	p.A878T		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	878					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						TTGAACTGCGCTCCTATACTA	0.338												
MRC2	9902	broad.mit.edu	37	17	60757243	60757243	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:60757243C>T	uc002jad.2	+	14	2680	c.2278C>T	c.(2278-2280)CGC>TGC	p.R760C	MRC2_uc010ddq.1_RNA|MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	760	Extracellular (Potential).|C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TCAGAGTTGGCGCTGGAGCGA	0.667												
STRADA	92335	broad.mit.edu	37	17	61781857	61781857	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:61781857G>A	uc002jbm.2	-	11	1103	c.944C>T	c.(943-945)TCG>TTG	p.S315L	STRADA_uc002jbn.2_Missense_Mutation_p.S257L|STRADA_uc002jbo.2_Missense_Mutation_p.S278L|STRADA_uc002jbp.2_Missense_Mutation_p.S278L|STRADA_uc002jbq.2_Missense_Mutation_p.S257L|STRADA_uc010wpq.1_Missense_Mutation_p.S271L|STRADA_uc010wpr.1_Missense_Mutation_p.S286L|STRADA_uc010ddw.2_Missense_Mutation_p.S286L|STRADA_uc002jbr.2_3'UTR	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	315	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			ovary(1)	1						CACTGAGCGCGAAGGGCTCAT	0.632												
SMARCD2	6603	broad.mit.edu	37	17	61911863	61911863	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:61911863A>G	uc010deb.1	-	7	1209	c.892T>C	c.(892-894)TGC>CGC	p.C298R	SMARCD2_uc010wpt.1_Missense_Mutation_p.C250R|SMARCD2_uc010dea.1_Missense_Mutation_p.C223R|SMARCD2_uc010dec.1_Missense_Mutation_p.C277R	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	298					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						AGGAGGGTGCACTTGACGTTG	0.592											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SMARCD2	6603	broad.mit.edu	37	17	61912836	61912836	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:61912836C>T	uc010deb.1	-	5	976	c.659G>A	c.(658-660)GGA>GAA	p.G220E	SMARCD2_uc010wpt.1_Missense_Mutation_p.G172E|SMARCD2_uc010dea.1_Missense_Mutation_p.G145E|SMARCD2_uc010dec.1_Missense_Mutation_p.G199E	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	SWI/SNF-related matrix-associated	220					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity				0						TGCTGGGGTTCCCCCAGGGGT	0.562												
SDK2	54549	broad.mit.edu	37	17	71398252	71398252	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:71398252T>A	uc010dfm.2	-	19	2513	c.2513A>T	c.(2512-2514)GAG>GTG	p.E838V	SDK2_uc002jjt.3_5'UTR|SDK2_uc010dfn.2_Missense_Mutation_p.E517V	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	838	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						GGTAACCTCCTCTTCCTGTTC	0.602												
KIF19	124602	broad.mit.edu	37	17	72345394	72345394	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:72345394C>T	uc002jkm.3	+	10	1257	c.1119C>T	c.(1117-1119)GGC>GGT	p.G373G	KIF19_uc002jkj.2_Silent_p.G373G|KIF19_uc002jkk.2_Silent_p.G331G|KIF19_uc002jkl.2_Silent_p.G331G	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	373	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						ACCTGCGGGGCGAGATCCAGC	0.642												
RECQL5	9400	broad.mit.edu	37	17	73658666	73658666	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:73658666G>A	uc010dgl.2	-	4	820	c.664C>T	c.(664-666)CGG>TGG	p.R222W	RECQL5_uc010dgk.2_Missense_Mutation_p.R195W|RECQL5_uc002jpb.1_Missense_Mutation_p.R222W|RECQL5_uc002joz.3_Missense_Mutation_p.R222W|RECQL5_uc002jpa.3_Missense_Mutation_p.R222W	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	222					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGGTTGGCCCGGAAGCAGGGA	0.537								Other_identified_genes_with_known_or_suspected_DNA_repair_function				
UNC13D	201294	broad.mit.edu	37	17	73832117	73832117	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:73832117C>T	uc002jpp.2	-	17	1900	c.1520G>A	c.(1519-1521)CGC>CAC	p.R507H	UNC13D_uc010wsk.1_Missense_Mutation_p.R507H|UNC13D_uc002jpq.1_Missense_Mutation_p.R157H|UNC13D_uc010dgq.1_Missense_Mutation_p.R303H	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	507	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTCCCATGTGCGCTGGCACTG	0.622									Familial_Hemophagocytic_Lymphohistiocytosis			
EVPL	2125	broad.mit.edu	37	17	74003402	74003402	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:74003402C>T	uc002jqi.2	-	22	6112	c.5884G>A	c.(5884-5886)GGG>AGG	p.G1962R	EVPL_uc010wss.1_Missense_Mutation_p.G1984R|EVPL_uc010wst.1_Missense_Mutation_p.G1432R	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1962	Plectin 6.|Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CTGATCATCCCGGAGAGGAGG	0.627												
ST6GALNAC1	55808	broad.mit.edu	37	17	74623283	74623283	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:74623283G>A	uc002jsh.2	-	4	1212	c.1038C>T	c.(1036-1038)CCC>CCT	p.P346P	ST6GALNAC1_uc002jsi.2_Silent_p.P214P|ST6GALNAC1_uc002jsj.2_RNA	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	346	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0						GCTGCTGCTGGGGCACTGGAG	0.647												
ENPP7	339221	broad.mit.edu	37	17	77709262	77709262	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:77709262G>A	uc002jxa.2	+	3	840	c.820G>A	c.(820-822)GAG>AAG	p.E274K		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	274					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCGGGACATCGAGTTTGAGCT	0.577												
GPS1	2873	broad.mit.edu	37	17	80014355	80014355	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:80014355C>T	uc002kdl.1	+	10	1102	c.1057C>T	c.(1057-1059)CTC>TTC	p.L353F	GPS1_uc002kdk.1_Missense_Mutation_p.L389F|GPS1_uc010dij.1_Missense_Mutation_p.L388F|GPS1_uc002kdm.1_Missense_Mutation_p.L333F|GPS1_uc002kdn.1_Missense_Mutation_p.L349F|GPS1_uc002kdo.1_Missense_Mutation_p.L352F|GPS1_uc010wvh.1_Missense_Mutation_p.L345F	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	353	PCI.				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGACAACCTGCTCCTGGACAT	0.662												
TEX19	400629	broad.mit.edu	37	17	80320038	80320038	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:80320038G>A	uc002keq.2	+	2	321	c.12G>A	c.(10-12)CCG>CCA	p.P4P		NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	testis expressed 19	4						nucleus					0						TGTGCCCTCCGGTCAGCATGC	0.587												
PTPRM	5797	broad.mit.edu	37	18	7955139	7955139	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:7955139C>T	uc002knn.3	+	7	1362	c.859C>T	c.(859-861)CCA>TCA	p.P287S	PTPRM_uc010dkv.2_Missense_Mutation_p.P287S|PTPRM_uc010wzl.1_Missense_Mutation_p.P74S	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	287	Fibronectin type-III 1.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				TCCTATTGCCCCACCTCAGCT	0.488												
PPP4R1	9989	broad.mit.edu	37	18	9570554	9570554	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:9570554C>T	uc002koe.1	-	11	1292	c.1174G>A	c.(1174-1176)GGG>AGG	p.G392R	PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Missense_Mutation_p.G238R|PPP4R1_uc002kod.1_Missense_Mutation_p.G375R|PPP4R1_uc010wzp.1_RNA	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	392					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1						AGAGGCTTCCCGGATGCCTCA	0.448												
C18orf1	753	broad.mit.edu	37	18	13621130	13621130	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:13621130G>A	uc002ksa.2	+	5	864	c.196G>A	c.(196-198)GCC>ACC	p.A66T	C18orf1_uc002ksb.2_Missense_Mutation_p.A66T|C18orf1_uc002kse.2_Missense_Mutation_p.A29T|C18orf1_uc002ksf.2_Missense_Mutation_p.A29T|C18orf1_uc002ksg.1_5'UTR|C18orf1_uc002ksh.1_Missense_Mutation_p.A8T|C18orf1_uc002ksi.1_Missense_Mutation_p.A8T	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	66	Helical; (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		GCTGGAGTTCGCCCAAATCAT	0.592												
DSG1	1828	broad.mit.edu	37	18	28913557	28913557	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:28913557C>T	uc002kwp.2	+	7	902	c.690C>T	c.(688-690)TAC>TAT	p.Y230Y		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	230	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTTAGCAATACGGCCAGTATG	0.428												
SLC14A2	8170	broad.mit.edu	37	18	43216967	43216967	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:43216967T>C	uc010dnj.2	+	7	984	c.663T>C	c.(661-663)TCT>TCC	p.S221S	SLC14A2_uc002lbb.2_Silent_p.S221S|SLC14A2_uc002lbe.2_Silent_p.S221S	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	221	Helical; (Potential).					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						CAGTTCTTTCTAGTGCCTTGA	0.512												
KIAA0427	9811	broad.mit.edu	37	18	46343630	46343630	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:46343630C>T	uc002ldc.2	+	10	1695	c.1410C>T	c.(1408-1410)GAC>GAT	p.D470D	KIAA0427_uc002ldd.2_Silent_p.D472D|KIAA0427_uc002lde.3_Silent_p.D99D	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	470	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						AGCAGCAGGACGTGGAGCGCT	0.677												
MBD1	4152	broad.mit.edu	37	18	47802019	47802019	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:47802019C>T	uc010dow.1	-	8	1180	c.743G>A	c.(742-744)CGC>CAC	p.R248H	MBD1_uc002lef.2_Missense_Mutation_p.R30H|MBD1_uc002leg.2_Missense_Mutation_p.R199H|MBD1_uc010xdi.1_Missense_Mutation_p.R274H|MBD1_uc002leh.3_Missense_Mutation_p.R248H|MBD1_uc002len.2_Missense_Mutation_p.R248H|MBD1_uc002lei.3_Missense_Mutation_p.R248H|MBD1_uc002lej.3_Missense_Mutation_p.R248H|MBD1_uc002lek.3_Missense_Mutation_p.R199H|MBD1_uc002lel.3_Missense_Mutation_p.R248H|MBD1_uc002lem.3_Missense_Mutation_p.R248H|MBD1_uc010xdj.1_Missense_Mutation_p.R248H|MBD1_uc010xdk.1_Missense_Mutation_p.R248H|MBD1_uc010dox.1_Missense_Mutation_p.R248H|MBD1_uc002leo.2_Missense_Mutation_p.R248H	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	248	CXXC-type 2.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GAGACCAGGGCGGGGAGGGCG	0.627												
MAPK4	5596	broad.mit.edu	37	18	48190498	48190498	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:48190498G>A	uc002lev.2	+	2	1170	c.170G>A	c.(169-171)CGC>CAC	p.R57H	MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.R57H	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	57	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGCGATGCCCGCAGCATGAAG	0.612												
MAPK4	5596	broad.mit.edu	37	18	48190669	48190669	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:48190669G>A	uc002lev.2	+	2	1341	c.341G>A	c.(340-342)CGC>CAC	p.R114H	MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.R114H	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	114	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		GACCTGGCACGCCTGCTGGAG	0.612												
ATP8B1	5205	broad.mit.edu	37	18	55315824	55315824	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:55315824C>T	uc002lgw.2	-	27	3652	c.3652G>A	c.(3652-3654)GCG>ACG	p.A1218T	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	1218	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				ATGAGGTCCGCGTAGCCCCGC	0.701									Byler_disease			
VPS4B	9525	broad.mit.edu	37	18	61058235	61058235	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:61058235A>G	uc002lix.2	-	11	1568	c.1308T>C	c.(1306-1308)TTT>TTC	p.F436F		NM_004869	NP_004860	O75351	VPS4B_HUMAN	vacuolar protein sorting factor 4B	436					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			ovary(1)	1						AATCTTCTGTAAACTTCTTTA	0.363												
CD226	10666	broad.mit.edu	37	18	67563197	67563197	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:67563197A>G	uc010dqo.2	-	3	914	c.467T>C	c.(466-468)ATG>ACG	p.M156T	CD226_uc002lkm.3_Missense_Mutation_p.M156T	NM_006566	NP_006557	Q15762	CD226_HUMAN	CD226 molecule precursor	156	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity				0		Esophageal squamous(42;0.129)				AGGCCACGTCATCTGAGGCTG	0.488												
CDC34	997	broad.mit.edu	37	19	535840	535840	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:535840C>T	uc002lov.2	+	2	380	c.181C>T	c.(181-183)CGC>TGC	p.R61C		NM_004359	NP_004350	P49427	UB2R1_HUMAN	ubiquitin-conjugating enzyme Cdc34	61					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity				0		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCTGCAGGCGCGCCTCAAGTT	0.637												
ABCA7	10347	broad.mit.edu	37	19	1055119	1055119	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:1055119C>T	uc002lqw.3	+	30	4205	c.3974C>T	c.(3973-3975)GCT>GTT	p.A1325V	ABCA7_uc010dsb.1_Missense_Mutation_p.A1187V|ABCA7_uc002lqy.2_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1325	Extracellular (By similarity).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GAAGTTCCTGCTGAAGTGGCC	0.652												
PCSK4	54760	broad.mit.edu	37	19	1487263	1487263	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:1487263C>T	uc002ltb.1	-	7	794	c.732G>A	c.(730-732)TCG>TCA	p.S244S	PCSK4_uc002lta.2_Silent_p.S56S	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	244	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		GCAGGCTCAGCGACTGGGCCT	0.647												
SPPL2B	56928	broad.mit.edu	37	19	2340969	2340969	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:2340969G>A	uc002lvs.2	+	9	993	c.913G>A	c.(913-915)GTG>ATG	p.V305M	SPPL2B_uc010dsw.1_Silent_p.A276A|SPPL2B_uc010dsy.1_Silent_p.A276A|SPPL2B_uc010dsz.1_Silent_p.A304A|SPPL2B_uc002lvr.2_Missense_Mutation_p.V305M|SPPL2B_uc010dta.1_Silent_p.A156A|SPPL2B_uc002lvu.2_Silent_p.A98A	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	signal peptide peptidase-like 2B isoform 2	305	Helical; (Potential).					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				0		Hepatocellular(1079;0.137)		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)		GCTCTTCTGCGTGGCCGTCAG	0.697												
ZNF556	80032	broad.mit.edu	37	19	2878023	2878023	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:2878023G>A	uc002lwp.1	+	4	1154	c.1067G>A	c.(1066-1068)CGC>CAC	p.R356H	ZNF556_uc002lwq.2_Missense_Mutation_p.R355H	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				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)		GCGAGGCCTCGCCCCTCCACA	0.488												
TBXA2R	6915	broad.mit.edu	37	19	3600462	3600462	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:3600462C>T	uc002lyg.1	-	2	385	c.171G>A	c.(169-171)TCG>TCA	p.S57S	TBXA2R_uc002lye.1_Silent_p.S57S	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	57	Cytoplasmic (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AGCGCGTGTGCGAACCCCCCT	0.706												
TMIGD2	126259	broad.mit.edu	37	19	4294602	4294602	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:4294602C>T	uc002lzx.1	-	4	570	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TMIGD2_uc010dtv.1_Missense_Mutation_p.R175H	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain	175	Cytoplasmic (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTGCGGCGGCCCCAGAA	0.627												
PTPRS	5802	broad.mit.edu	37	19	5231455	5231455	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:5231455A>G	uc002mbv.2	-	14	2255	c.2021T>C	c.(2020-2022)ATC>ACC	p.I674T	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Missense_Mutation_p.I661T|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	674	Extracellular (Potential).|Fibronectin type-III 4.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGTCGGGGGGATGCCGTTCAC	0.677												
PTPRS	5802	broad.mit.edu	37	19	5239009	5239009	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:5239009G>A	uc002mbv.2	-	13	2004	c.1770C>T	c.(1768-1770)TAC>TAT	p.Y590Y	PTPRS_uc002mbu.1_Silent_p.Y577Y|PTPRS_uc010xin.1_Silent_p.Y577Y|PTPRS_uc002mbw.2_Silent_p.Y577Y|PTPRS_uc002mbx.2_Silent_p.Y581Y|PTPRS_uc002mby.2_Silent_p.Y577Y	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	590	Extracellular (Potential).|Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGCGGAAGGCGTACTCCGTGT	0.701												
SMARCA4	6597	broad.mit.edu	37	19	11152043	11152043	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:11152043C>T	uc002mqf.3	+	30	4515	c.4231C>T	c.(4231-4233)CGG>TGG	p.R1411W	SMARCA4_uc010dxp.2_Missense_Mutation_p.R1411W|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1443W|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1378W|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1378W|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1381W|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1381W|SMARCA4_uc002mqh.3_Missense_Mutation_p.R501W	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1411					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAAATCATCACGGAAGCGCAA	0.612			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
MAN2B1	4125	broad.mit.edu	37	19	12760206	12760206	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:12760206C>T	uc002mub.2	-	19	2380	c.2304G>A	c.(2302-2304)ACG>ACA	p.T768T	MAN2B1_uc010dyv.1_Silent_p.T767T	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	768					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						CCACGGGCTCCGTCTGGTTCA	0.527												
TNPO2	30000	broad.mit.edu	37	19	12814278	12814278	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:12814278C>T	uc002muo.2	-	19	2358	c.2173G>A	c.(2173-2175)GCC>ACC	p.A725T	TNPO2_uc002mup.2_Missense_Mutation_p.A817T|TNPO2_uc002muq.2_Missense_Mutation_p.A725T|TNPO2_uc002mur.2_Missense_Mutation_p.A725T	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	725	HEAT 12.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GCCCAGGTGGCGTTGTTGCAG	0.602												
MAST1	22983	broad.mit.edu	37	19	12979633	12979633	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:12979633G>A	uc002mvm.2	+	21	2871	c.2743G>A	c.(2743-2745)GCC>ACC	p.A915T		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	915					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						ATCAGCCTCAGCCACTGCCTT	0.587												
FARSA	2193	broad.mit.edu	37	19	13041545	13041545	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:13041545G>A	uc002mvs.2	-	2	214	c.166C>T	c.(166-168)CGG>TGG	p.R56W	FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.R56W|FARSA_uc010dyy.1_Intron	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	56					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			ovary(1)	1					L-Phenylalanine(DB00120)	TTGGTGGACCGAAGTTCAGCC	0.642												
NFIX	4784	broad.mit.edu	37	19	13201132	13201132	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:13201132C>T	uc010xmx.1	+	10	1499	c.1446C>T	c.(1444-1446)GCC>GCT	p.A482A	NFIX_uc002mwd.2_Missense_Mutation_p.P425L|NFIX_uc002mwe.2_Missense_Mutation_p.P417L|NFIX_uc002mwf.2_Missense_Mutation_p.P387L|NFIX_uc002mwg.1_Missense_Mutation_p.P424L			Q14938	NFIX_HUMAN	RecName: Full=Nuclear factor 1;	474					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CGACAGGCGCCTCCTCTGCCA	0.647												
PODNL1	79883	broad.mit.edu	37	19	14045127	14045127	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:14045127G>A	uc002mxr.2	-	6	886	c.612C>T	c.(610-612)AAC>AAT	p.N204N	PODNL1_uc010xni.1_Silent_p.N122N|PODNL1_uc010xnj.1_Silent_p.N202N|PODNL1_uc002mxs.2_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	podocan-like 1 isoform 1	204	Leu-rich.|LRR 6.					proteinaceous extracellular matrix				central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			TGAGCTGGTTGTTGGAGAGGC	0.677												
RFX1	5989	broad.mit.edu	37	19	14080843	14080843	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:14080843C>T	uc002mxv.2	-	10	1731	c.1459G>A	c.(1459-1461)GTC>ATC	p.V487I	RFX1_uc010dzi.2_Missense_Mutation_p.V487I	NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	487	RFX-type winged-helix.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CCCATGAAGACGGAGCGGATG	0.647												
CYP4F22	126410	broad.mit.edu	37	19	15648801	15648801	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:15648801A>G	uc002nbh.3	+	7	835	c.668A>G	c.(667-669)CAA>CGA	p.Q223R		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	223						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						AGCAACTGCCAAGAGTGAGTG	0.373												
OR10H5	284433	broad.mit.edu	37	19	15905282	15905282	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:15905282A>G	uc010xos.1	+	1	424	c.424A>G	c.(424-426)ACC>GCC	p.T142A		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	142	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GCGGGGCTGCACCTGCCGGGT	0.627												
OR10H1	26539	broad.mit.edu	37	19	15918308	15918308	+	Silent	SNP	A	A	G	rs143264407		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:15918308A>G	uc002nbq.2	-	1	629	c.540T>C	c.(538-540)CAT>CAC	p.H180H		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GAGGTGGCACATGGCAAGCAA	0.587												
OR10H1	26539	broad.mit.edu	37	19	15918435	15918435	+	Missense_Mutation	SNP	G	G	A	rs143282709		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:15918435G>A	uc002nbq.2	-	1	502	c.413C>T	c.(412-414)CCG>CTG	p.P138L		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GCAGCCCCGCGGGCTCATGAG	0.647												
CHERP	10523	broad.mit.edu	37	19	16652696	16652696	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:16652696G>T	uc002nei.1	-	2	258	c.184C>A	c.(184-186)CTG>ATG	p.L62M	MED26_uc002nee.2_Intron|CHERP_uc002nej.2_Missense_Mutation_p.L30M	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	62					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						TGCTGCTCCAGCGCCAGCTTG	0.542												
F2RL3	9002	broad.mit.edu	37	19	17001150	17001150	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:17001150C>T	uc002nfa.2	+	2	1051	c.876C>T	c.(874-876)GCC>GCT	p.A292A		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	292	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity				0						TGGCCTCCGCCGTGGCCTTCT	0.706												
PLVAP	83483	broad.mit.edu	37	19	17487777	17487777	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:17487777G>A	uc002ngk.1	-	1	371	c.321C>T	c.(319-321)CGC>CGT	p.R107R		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	107	Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						GGTCCAGGTCGCGGCGAGCAT	0.522												
FKBP8	23770	broad.mit.edu	37	19	18650477	18650477	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:18650477G>A	uc002njk.1	-	3	459	c.346C>T	c.(346-348)CGC>TGC	p.R116C	FKBP8_uc002nji.1_5'UTR|FKBP8_uc010xqi.1_Missense_Mutation_p.R145C|FKBP8_uc002njj.1_Missense_Mutation_p.R116C|FKBP8_uc002njl.1_Missense_Mutation_p.R116C|FKBP8_uc002njm.1_Missense_Mutation_p.R116C|FKBP8_uc010ebr.1_Intron|FKBP8_uc002njn.2_RNA	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	FK506-binding protein 8	116					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						TTGACCGGGCGGCTCGAACCT	0.642												
UPF1	5976	broad.mit.edu	37	19	18964115	18964115	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:18964115C>T	uc002nkg.2	+	8	1420	c.1145C>T	c.(1144-1146)GCG>GTG	p.A382V	UPF1_uc002nkf.2_Missense_Mutation_p.A371V	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	382	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GGGGACCTTGCGCCCCTGTGG	0.562												
ARMC6	93436	broad.mit.edu	37	19	19162542	19162542	+	Missense_Mutation	SNP	G	G	A	rs145390530	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:19162542G>A	uc002nld.2	+	5	739	c.391G>A	c.(391-393)GCG>ACG	p.A131T	ARMC6_uc002nlc.2_Missense_Mutation_p.A106T|ARMC6_uc010xql.1_Missense_Mutation_p.A38T|ARMC6_uc002nle.2_Missense_Mutation_p.A106T|ARMC6_uc010xqm.1_Missense_Mutation_p.A131T	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	131							protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCGCTTCCTCGCGGCCCAGAA	0.642												
GATAD2A	54815	broad.mit.edu	37	19	19613277	19613277	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:19613277C>T	uc010xqt.1	+	11	2025	c.1713C>T	c.(1711-1713)ACC>ACT	p.T571T	GATAD2A_uc010xqu.1_Silent_p.T200T|GATAD2A_uc010xqv.1_Silent_p.T591T|GATAD2A_uc010xqw.1_Silent_p.T374T	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	571					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTGAGAGAACCGTGAGCGCCG	0.647												
ZNF708	7562	broad.mit.edu	37	19	21476609	21476609	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:21476609T>C	uc002npq.1	-	4	1357	c.1159A>G	c.(1159-1161)ACT>GCT	p.T387A	ZNF708_uc002npr.1_Missense_Mutation_p.T323A|ZNF708_uc010ecs.1_Missense_Mutation_p.T323A	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6						TTCTCTCCAGTATGAATTACC	0.363												
ZNF208	7757	broad.mit.edu	37	19	22155740	22155740	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:22155740C>T	uc002nqp.2	-	5	1945	c.1796G>A	c.(1795-1797)GGC>GAC	p.G599D	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAAGCTTTGCCACATTCTTC	0.363												
ZNF91	7644	broad.mit.edu	37	19	23544326	23544326	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:23544326A>G	uc002nre.2	-	4	1568	c.1455T>C	c.(1453-1455)ACT>ACC	p.T485T	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Silent_p.T453T	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	485						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GCTTCTCTCCAGTGTGTATCC	0.368												
ZNF536	9745	broad.mit.edu	37	19	31039848	31039848	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:31039848C>A	uc002nsu.1	+	4	3460	c.3322C>A	c.(3322-3324)CCA>ACA	p.P1108T	ZNF536_uc010edd.1_Missense_Mutation_p.P1108T	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TTGTAACTTCCCATCAGACTT	0.562												
GAPDHS	26330	broad.mit.edu	37	19	36034314	36034314	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:36034314C>T	uc002oaf.1	+	8	930	c.814C>T	c.(814-816)CGG>TGG	p.R272W	uc010eec.1_RNA|uc002oag.2_Intron|TMEM147_uc002oai.1_5'Flank|TMEM147_uc002oaj.1_5'Flank|TMEM147_uc002oak.1_5'Flank	NM_014364	NP_055179	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase,	272					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GCGAGATGGGCGGGGTGCCCA	0.582												
MLL4	9757	broad.mit.edu	37	19	36214078	36214078	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:36214078C>T	uc010eei.2	+	6	2904	c.2904C>T	c.(2902-2904)CAC>CAT	p.H968H		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	968	CXXC-type.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GATGTGGACACTGTCGGGGCT	0.607												
ZNF420	147923	broad.mit.edu	37	19	37619350	37619350	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:37619350G>A	uc002ofl.2	+	5	1672	c.1457G>A	c.(1456-1458)CGT>CAT	p.R486H		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	486	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTTTTATTCGTGGTTCCCAG	0.403												
RYR1	6261	broad.mit.edu	37	19	38939141	38939141	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:38939141G>A	uc002oit.2	+	10	1077	c.947G>A	c.(946-948)CGC>CAC	p.R316H	RYR1_uc002oiu.2_Missense_Mutation_p.R316H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	316	MIR 4.|Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTCTGCTTCCGCATCTCCAAG	0.652												
ZNF546	339327	broad.mit.edu	37	19	40520059	40520059	+	Missense_Mutation	SNP	A	A	G	rs17653956		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:40520059A>G	uc002oms.2	+	7	1138	c.882A>G	c.(880-882)ATA>ATG	p.I294M	ZNF546_uc002omt.2_Missense_Mutation_p.I268M	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	294	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATCAGAGAATACATTCTGGTG	0.433												
ZNF780A	284323	broad.mit.edu	37	19	40581329	40581329	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:40581329C>A	uc002omy.2	-	6	1245	c.1020G>T	c.(1018-1020)AAG>AAT	p.K340N	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.K340N|ZNF780A_uc010xvh.1_Missense_Mutation_p.K341N	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	340	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAGTAAACGCCTTTCCACATT	0.408												
CYP2B6	1555	broad.mit.edu	37	19	41515233	41515233	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:41515233A>G	uc002opr.1	+	5	762	c.755A>G	c.(754-756)CAC>CGC	p.H252R	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	252					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GTGGAGAAGCACCGTGAAACC	0.493												
CYP2B6	1555	broad.mit.edu	37	19	41515274	41515274	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:41515274G>A	uc002opr.1	+	5	803	c.796G>A	c.(796-798)GAC>AAC	p.D266N	CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B,	266					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GGACCTCATCGACACCTACCT	0.393												
BCKDHA	593	broad.mit.edu	37	19	41928571	41928571	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:41928571C>T	uc002oqq.2	+	7	920	c.891C>T	c.(889-891)CGC>CGT	p.R297R	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Silent_p.R331R|BCKDHA_uc002oqp.1_Silent_p.R189R|BCKDHA_uc002oqr.2_Silent_p.R296R|BCKDHA_uc010xvz.1_Silent_p.R275R	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	297					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						TGTCAATCCGCGTGGATGGTA	0.592												
CEACAM5	1048	broad.mit.edu	37	19	42221555	42221555	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:42221555A>G	uc002ork.2	+	5	1261	c.1140A>G	c.(1138-1140)CTA>CTG	p.L380L	CEACAM5_uc002orj.1_Silent_p.L379L|CEACAM5_uc002orl.2_Silent_p.L380L	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	380	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCTCACTCTACTCAGTGTCA	0.498												
CIC	23152	broad.mit.edu	37	19	42791776	42791776	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:42791776G>A	uc002otf.1	+	5	702	c.662G>A	c.(661-663)CGT>CAT	p.R221H		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	221	HMG box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GTCCACCAGCGTCATCCCAAC	0.612			T	DUX4	soft tissue sarcoma							
PRR19	284338	broad.mit.edu	37	19	42814088	42814088	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:42814088C>A	uc002oti.2	+	2	730	c.352C>A	c.(352-354)CCA>ACA	p.P118T	PRR19_uc002oth.1_Missense_Mutation_p.P118T|PRR19_uc002otj.2_Missense_Mutation_p.P118T	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	proline rich 19	118											0		Prostate(69;0.00682)				GGAACCAGCCCCACGGTCCAG	0.672												
PSG7	5676	broad.mit.edu	37	19	43439735	43439735	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:43439735A>G	uc002ovl.3	-	2	353	c.251T>C	c.(250-252)GTA>GCA	p.V84A	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	84	Ig-like V-type.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				TTGACCGTCTACTATATATGA	0.418												
XRCC1	7515	broad.mit.edu	37	19	44056177	44056177	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:44056177C>T	uc002owt.2	-	9	1194	c.1074G>A	c.(1072-1074)ACG>ACA	p.T358T	XRCC1_uc010xwp.1_Silent_p.T327T	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	358	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				ACATGAGGTGCGTGCTGTCCC	0.627								Other_BER_factors				
ZNF234	10780	broad.mit.edu	37	19	44660800	44660800	+	Nonsense_Mutation	SNP	A	A	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:44660800A>T	uc002oym.2	+	6	938	c.631A>T	c.(631-633)AAG>TAG	p.K211*	ZNF234_uc002oyl.3_Nonsense_Mutation_p.K211*	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	211	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				CGTGTGTGGTAAGGAATTTAG	0.423												
ZNF226	7769	broad.mit.edu	37	19	44680402	44680402	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:44680402C>T	uc002oyp.2	+	6	1131	c.987C>T	c.(985-987)CAC>CAT	p.H329H	ZNF226_uc002oyq.2_Silent_p.H212H|ZNF226_uc002oyr.2_Silent_p.H212H|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Silent_p.H329H|ZNF226_uc002oyt.2_Silent_p.H329H	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	329	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AGAAAGTCCACGTGATAGAGA	0.433												
ZNF235	9310	broad.mit.edu	37	19	44792700	44792700	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:44792700A>G	uc002oza.3	-	5	991	c.888T>C	c.(886-888)CAT>CAC	p.H296H	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Silent_p.H292H|ZNF235_uc010xwx.1_Silent_p.H210H	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				TGTCCTTCTCATGTGTACTAC	0.423												
CLPTM1	1209	broad.mit.edu	37	19	45490487	45490487	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:45490487A>G	uc002pai.2	+	8	859	c.844A>G	c.(844-846)AAT>GAT	p.N282D	CLPTM1_uc010ejv.1_Missense_Mutation_p.N180D|CLPTM1_uc010xxf.1_Missense_Mutation_p.N180D|CLPTM1_uc010xxg.1_Missense_Mutation_p.N268D	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	282	Extracellular (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CATCTACTTCAATGACTACTG	0.612												
PPP1R13L	10848	broad.mit.edu	37	19	45899977	45899977	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:45899977G>A	uc002pbn.2	-	4	615	c.538C>T	c.(538-540)CGC>TGC	p.R180C	PPP1R13L_uc002pbo.2_Missense_Mutation_p.R180C|PPP1R13L_uc002pbp.2_Missense_Mutation_p.R180C	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	180	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GAGCCTGCGCGGCCCAGGAAG	0.796												
FKRP	79147	broad.mit.edu	37	19	47259842	47259842	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:47259842C>T	uc002pfn.2	+	4	1432	c.1135C>T	c.(1135-1137)CGG>TGG	p.R379W	FKRP_uc002pfp.2_Missense_Mutation_p.R379W	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	fukutin-related protein	379						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			pancreas(1)	1		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGAGCAGCTGCGGGGGGCAGA	0.657												
NPAS1	4861	broad.mit.edu	37	19	47535965	47535965	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:47535965T>C	uc002pfw.2	+	5	693	c.497T>C	c.(496-498)GTC>GCC	p.V166A	NPAS1_uc002pfx.2_5'UTR|NPAS1_uc002pfy.2_Missense_Mutation_p.V166A|NPAS1_uc010xyj.1_5'Flank	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	166	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		TCAGAGACAGTCTCCATCTAT	0.557											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZC3H4	23211	broad.mit.edu	37	19	47569698	47569698	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:47569698G>A	uc002pga.3	-	15	3865	c.3827C>T	c.(3826-3828)CCG>CTG	p.P1276L	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1276							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)		CTCGCGGGCCGGACTGTTCCC	0.637												
TPRX1	284355	broad.mit.edu	37	19	48305502	48305502	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:48305502G>A	uc002php.1	-	2	837	c.766C>T	c.(766-768)CCA>TCA	p.P256S		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox	256	Gly-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		attgggcctgggattgggcct	0.224												
IL4I1	259307	broad.mit.edu	37	19	50399160	50399160	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:50399160C>A	uc002pqt.1	-	3	242	c.164G>T	c.(163-165)CGG>CTG	p.R55L	IL4I1_uc002pqv.1_Missense_Mutation_p.R64L|IL4I1_uc010eno.1_Missense_Mutation_p.R63L|IL4I1_uc002pqw.1_Missense_Mutation_p.R63L|IL4I1_uc002pqu.1_Missense_Mutation_p.R77L	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	55						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CTTCAGGGTCCGATTGAGCCC	0.612												
SIGLEC10	89790	broad.mit.edu	37	19	51914440	51914440	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:51914440C>T	uc002pwo.2	-	11	2623	c.2007G>A	c.(2005-2007)ACG>ACA	p.T669T	SIGLEC10_uc002pwp.2_Silent_p.T611T|SIGLEC10_uc002pwq.2_Silent_p.T516T|SIGLEC10_uc002pwr.2_Silent_p.T574T|SIGLEC10_uc010ycy.1_Silent_p.T484T|SIGLEC10_uc010ycz.1_Silent_p.T526T|SIGLEC10_uc010eow.2_Silent_p.T386T	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	669	ITIM motif 2.|Cytoplasmic (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGAAGTTGAGCGTGGCATAAT	0.557												
MYADM	91663	broad.mit.edu	37	19	54377349	54377349	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:54377349C>T	uc002qcl.2	+	3	714	c.566C>T	c.(565-567)GCG>GTG	p.A189V	MYADM_uc002qcm.2_Missense_Mutation_p.A189V|MYADM_uc002qcn.2_Missense_Mutation_p.A189V|MYADM_uc002qco.2_Missense_Mutation_p.A189V|MYADM_uc002qcp.2_Missense_Mutation_p.A189V	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	189	MARVEL 2.|Helical; (Potential).					integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		ATCATCTTCGCGTTCATCAGC	0.652												
LENG8	114823	broad.mit.edu	37	19	54965667	54965667	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:54965667C>T	uc002qfv.1	+	5	518	c.374C>T	c.(373-375)CCG>CTG	p.P125L	LENG8_uc002qfw.2_Missense_Mutation_p.P162L			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	125							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CAGCAGCTGCCGTCGGCTCAG	0.657												
LILRA2	11027	broad.mit.edu	37	19	55087381	55087381	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:55087381C>A	uc002qgg.3	+	6	1149	c.1060C>A	c.(1060-1062)CTT>ATT	p.L354I	LILRA2_uc010ern.2_Missense_Mutation_p.L354I|LILRA2_uc002qgf.2_Missense_Mutation_p.L354I|LILRA2_uc010yfe.1_Missense_Mutation_p.L354I|LILRA2_uc010yff.1_Missense_Mutation_p.L342I|LILRA2_uc010ero.2_Missense_Mutation_p.L342I|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	354	Ig-like C2-type 4.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		CCACACTTTCCTTCTGACCAA	0.597												
NLRP8	126205	broad.mit.edu	37	19	56477621	56477621	+	Silent	SNP	C	C	T	rs61740147	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:56477621C>T	uc002qmh.2	+	5	2327	c.2256C>T	c.(2254-2256)ATC>ATT	p.I752I	NLRP8_uc010etg.2_Silent_p.I752I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	752						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGGACTTAATCGGTGTTTTGA	0.502												
ZNF667	63934	broad.mit.edu	37	19	56969550	56969550	+	Missense_Mutation	SNP	T	T	A	rs139445582		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:56969550T>A	uc002qnd.2	-	4	389	c.227A>T	c.(226-228)GAG>GTG	p.E76V	ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.E76V|ZNF667_uc010etm.2_5'UTR	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TCTTACTGGCTCTACCATCCA	0.368												
ZNF460	10794	broad.mit.edu	37	19	57802483	57802483	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:57802483C>T	uc002qog.2	+	3	896	c.574C>T	c.(574-576)CGT>TGT	p.R192C	ZNF460_uc010ygv.1_Missense_Mutation_p.R151C	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATTCTCCCTCGTGTGAAGCC	0.438												
TTC15	51112	broad.mit.edu	37	2	3392162	3392162	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:3392162C>T	uc002qxm.1	+	2	974	c.768C>T	c.(766-768)ACC>ACT	p.T256T	TTC15_uc002qxn.1_Silent_p.T256T|TTC15_uc010ewm.1_Silent_p.T256T|TTC15_uc002qxl.1_Silent_p.T256T	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	256							binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		TGCCCGGGACCGAGGGGCGCC	0.552												
ASAP2	8853	broad.mit.edu	37	2	9531279	9531279	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:9531279G>A	uc002qzh.2	+	23	2812	c.2472G>A	c.(2470-2472)CCG>CCA	p.P824P	ASAP2_uc002qzi.2_Intron	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	824	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						CGTCAGATCCGCCAGCTGTCC	0.517												
ODC1	4953	broad.mit.edu	37	2	10582054	10582054	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:10582054G>A	uc010exg.1	-	10	1349	c.915C>T	c.(913-915)GAC>GAT	p.D305D	ODC1_uc002ran.1_Translation_Start_Site|ODC1_uc002rao.1_Silent_p.D305D|ODC1_uc010yjd.1_Silent_p.D175D	NM_002539	NP_002530	P11926	DCOR_HUMAN	ornithine decarboxylase 1	305					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	ACTCATCTTCGTCTAGAAAGG	0.403												
ATP6V1C2	245973	broad.mit.edu	37	2	10917839	10917839	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:10917839C>T	uc002ras.2	+	11	1063	c.954C>T	c.(952-954)GGC>GGT	p.G318G	ATP6V1C2_uc002rat.2_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	318					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)		AGAGTGAGGGCGAGGGTGAGG	0.597												
KCNF1	3754	broad.mit.edu	37	2	11053303	11053303	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:11053303G>A	uc002rax.2	+	1	1241	c.751G>A	c.(751-753)GCG>ACG	p.A251T		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	251	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A251A(1)		ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GCTGCACTTCGCGCTGTCCTT	0.612												
MYCN	4613	broad.mit.edu	37	2	16082320	16082320	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:16082320C>T	uc002rci.2	+	2	434	c.134C>T	c.(133-135)CCG>CTG	p.P45L	MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Missense_Mutation_p.P37L	NM_005378	NP_005369	P04198	MYCN_HUMAN	v-myc myelocytomatosis viral related oncogene,	45					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			TCGACCCCCCCGGGGGAGGAC	0.647			A		neuroblastoma							
HS1BP3	64342	broad.mit.edu	37	2	20845146	20845146	+	Missense_Mutation	SNP	G	G	A	rs149646332	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:20845146G>A	uc002rdw.1	-	2	193	c.152C>T	c.(151-153)GCG>GTG	p.A51V	HS1BP3_uc002rdx.2_Missense_Mutation_p.A51V|HS1BP3_uc002rdy.2_Missense_Mutation_p.A51V	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	51	PX.				cell communication		phosphatidylinositol binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGACTTGAACGCAGCCAGACG	0.647												
APOB	338	broad.mit.edu	37	2	21241915	21241915	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:21241915T>C	uc002red.2	-	20	3198	c.3070A>G	c.(3070-3072)AGA>GGA	p.R1024G		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1024					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGTCCTCTCTCTGGAGCTCA	0.468												
C2orf18	54978	broad.mit.edu	37	2	26999343	26999343	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:26999343C>T	uc002rhp.1	+	5	715	c.639C>T	c.(637-639)GGC>GGT	p.G213G	C2orf18_uc002rhq.1_Silent_p.G130G|C2orf18_uc010eyo.1_Silent_p.G160G|C2orf18_uc010ylc.1_Intron	NM_017877	NP_060347	Q8N357	CB018_HUMAN	ANT2-binding protein precursor	213						integral to membrane|lysosomal membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCAGTTGGCACTGAGGGTG	0.582												
SLC5A6	8884	broad.mit.edu	37	2	27424654	27424654	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:27424654A>G	uc002rjd.2	-	14	1815	c.1424T>C	c.(1423-1425)ATC>ACC	p.I475T	SLC5A6_uc010eyv.1_Missense_Mutation_p.I475T	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	475	Helical; (Potential).				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GCTGGTCACGATGCTCCCGAT	0.607												
CLIP4	79745	broad.mit.edu	37	2	29404513	29404513	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:29404513C>T	uc002rmv.2	+	16	2111	c.1872C>T	c.(1870-1872)CAC>CAT	p.H624H	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	624										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TGAAGCTGCACGAGGGGTCTC	0.567												
GALNT14	79623	broad.mit.edu	37	2	31215869	31215869	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:31215869G>A	uc002rnr.2	-	2	753	c.134C>T	c.(133-135)TCG>TTG	p.S45L	GALNT14_uc002rnq.2_Missense_Mutation_p.S25L|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Missense_Mutation_p.S10L|GALNT14_uc010ezo.1_Missense_Mutation_p.S45L|GALNT14_uc010ezp.1_Missense_Mutation_p.S16L	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	45	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					GTCAGCGTCCGAAGGCTGCGT	0.572												
SLC30A6	55676	broad.mit.edu	37	2	32422847	32422847	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:32422847T>A	uc002roe.1	+	10	654	c.617T>A	c.(616-618)CTT>CAT	p.L206H	SLC30A6_uc002rof.1_Missense_Mutation_p.L246H|SLC30A6_uc010ymw.1_Missense_Mutation_p.L177H|SLC30A6_uc010ezr.1_Missense_Mutation_p.L206H|SLC30A6_uc002rog.1_Missense_Mutation_p.L9H|SLC30A6_uc010ezs.1_Missense_Mutation_p.L132H|SLC30A6_uc002roh.1_Missense_Mutation_p.L9H	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter),	206	Helical; (Potential).					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTGATTGATCTTGCTGGAGCA	0.343												
EIF2AK2	5610	broad.mit.edu	37	2	37349801	37349801	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:37349801C>T	uc010ynh.1	-	12	1472	c.915G>A	c.(913-915)GCG>GCA	p.A305A	EIF2AK2_uc010fab.1_Silent_p.A264A|EIF2AK2_uc010yng.1_Silent_p.A305A|EIF2AK2_uc010fac.2_Silent_p.A305A|EIF2AK2_uc010fad.2_Intron	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	305	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)				CTTCACGCTCCGCCTTCCTAG	0.413												
TMEM178	130733	broad.mit.edu	37	2	39944243	39944243	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:39944243A>G	uc002rrt.2	+	4	771	c.746A>G	c.(745-747)GAT>GGT	p.D249G	TMEM178_uc010fam.1_Missense_Mutation_p.D203G	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	249	Extracellular (Potential).					integral to membrane					0		all_hematologic(82;0.248)				CTGCCTGCTGATGTGGAACAT	0.463												
OXER1	165140	broad.mit.edu	37	2	42990086	42990086	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:42990086C>T	uc002rss.2	-	1	1316	c.1234G>A	c.(1234-1236)GAG>AAG	p.E412K		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	G-protein coupled receptor TG1019	412	Cytoplasmic (Potential).				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)	1						AGAGAGACCTCGCCCTGCACT	0.667												
PLEKHH2	130271	broad.mit.edu	37	2	43956822	43956822	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:43956822T>C	uc010yny.1	+	18	2851	c.2768T>C	c.(2767-2769)GTA>GCA	p.V923A	PLEKHH2_uc002rtf.3_Missense_Mutation_p.V922A	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	923						cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCAACAATGTAAACGTTGGA	0.323												
NRXN1	9378	broad.mit.edu	37	2	50280726	50280726	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:50280726G>A	uc010fbp.2	-	4	1423	c.616C>T	c.(616-618)CGT>TGT	p.R206C	NRXN1_uc002rxb.3_Missense_Mutation_p.R943C|NRXN1_uc010fbq.2_Missense_Mutation_p.R1311C|NRXN1_uc002rxe.3_Missense_Mutation_p.R1241C	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	206	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTGAGCTGACGCCCTGTAAAA	0.413												
SPTBN1	6711	broad.mit.edu	37	2	54839322	54839322	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:54839322C>T	uc002rxu.2	+	4	574	c.325C>T	c.(325-327)CGC>TGC	p.R109C	SPTBN1_uc002rxv.1_Missense_Mutation_p.R109C|SPTBN1_uc002rxx.2_Missense_Mutation_p.R96C	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	109	CH 1.|Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GGGACGAATGCGCATCCACTG	0.512												
BCL11A	53335	broad.mit.edu	37	2	60688221	60688221	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:60688221G>A	uc002sae.1	-	4	2054	c.1826C>T	c.(1825-1827)CCG>CTG	p.P609L	BCL11A_uc002sab.2_Missense_Mutation_p.P609L|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.P278L|BCL11A_uc010ypj.1_Missense_Mutation_p.P575L|BCL11A_uc002sad.1_Missense_Mutation_p.P457L|BCL11A_uc002saf.1_Missense_Mutation_p.P575L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	609					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGACTCGCCCGGGGAGCAGCC	0.667			T	IGH@	B-CLL							
TMEM17	200728	broad.mit.edu	37	2	62729851	62729851	+	Missense_Mutation	SNP	C	C	A	rs143642405		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:62729851C>A	uc002sbt.2	-	2	519	c.179G>T	c.(178-180)AGC>ATC	p.S60I	TMEM17_uc002sbu.2_Missense_Mutation_p.S60I|TMEM17_uc002sbv.1_Missense_Mutation_p.S35I	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	transmembrane protein 17	60	Helical; (Potential).					integral to membrane					0	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			CATAATGCTGCTCACCCACCA	0.363												
FBXO41	150726	broad.mit.edu	37	2	73490893	73490893	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:73490893C>T	uc002sjb.1	-	8	2171	c.2171G>A	c.(2170-2172)CGC>CAC	p.R724H		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	663						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						GTGGGAGATGCGCAGGATCAG	0.642												
ALMS1	7840	broad.mit.edu	37	2	73799651	73799651	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:73799651C>T	uc002sje.1	+	18	10761	c.10650C>T	c.(10648-10650)AGC>AGT	p.S3550S	ALMS1_uc002sjf.1_Silent_p.S3506S|ALMS1_uc002sjg.2_Silent_p.S2936S|ALMS1_uc002sjh.1_Silent_p.S2936S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3548					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						AGAGCCTCAGCATCAATGTGA	0.363												
PROM2	150696	broad.mit.edu	37	2	95952596	95952596	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:95952596G>A	uc002suh.1	+	18	2218	c.2085G>A	c.(2083-2085)CCG>CCA	p.P695P	PROM2_uc002sui.2_Silent_p.P695P|PROM2_uc002suj.2_Silent_p.P349P|PROM2_uc002suk.2_Silent_p.P695P|PROM2_uc002sul.2_Silent_p.P221P|PROM2_uc002sum.2_RNA	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	695	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						CCTCTGCCCCGAATCTCCAGG	0.527												
AFF3	3899	broad.mit.edu	37	2	100623462	100623462	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:100623462T>C	uc002tag.2	-	6	741	c.505A>G	c.(505-507)AGG>GGG	p.R169G	AFF3_uc002taf.2_Missense_Mutation_p.R194G|AFF3_uc010fiq.1_Missense_Mutation_p.R169G|AFF3_uc010yvr.1_Missense_Mutation_p.R323G|AFF3_uc002tah.1_Missense_Mutation_p.R194G|AFF3_uc010fir.1_Missense_Mutation_p.R246G|AFF3_uc002tai.2_Missense_Mutation_p.R91G	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	169					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						AGCAAGGTCCTGAGAGAGCCC	0.517												
TBC1D8	11138	broad.mit.edu	37	2	101706808	101706808	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:101706808A>C	uc010fiv.2	-	2	277	c.146T>G	c.(145-147)CTG>CGG	p.L49R	TBC1D8_uc010yvw.1_Missense_Mutation_p.L49R	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	49					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						CACTGCATCCAGAGCGCCGAC	0.537												
SULT1C3	442038	broad.mit.edu	37	2	108872147	108872147	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:108872147C>T	uc010ywo.1	+	4	519	c.519C>T	c.(517-519)TCC>TCT	p.S173S		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	173						cytoplasm	alcohol sulfotransferase activity			skin(1)	1						AATTCATGTCCGGAAAAGGTG	0.423												
EDAR	10913	broad.mit.edu	37	2	109513512	109513512	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:109513512G>A	uc002teq.3	-	12	1629	c.1198C>T	c.(1198-1200)CGC>TGC	p.R400C	EDAR_uc010fjn.2_Missense_Mutation_p.R432C|EDAR_uc010yws.1_Missense_Mutation_p.R432C	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	400	Death.|Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						GTGCTGATGCGGTCAAAGAGT	0.562												
PROC	5624	broad.mit.edu	37	2	128186242	128186242	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:128186242C>T	uc002tok.2	+	9	1179	c.1106C>T	c.(1105-1107)CCG>CTG	p.P369L	PROC_uc002tol.2_Missense_Mutation_p.P390L|PROC_uc010yzi.1_Missense_Mutation_p.P425L|PROC_uc010yzj.1_Missense_Mutation_p.P264L|PROC_uc010yzk.1_Missense_Mutation_p.P424L|PROC_uc002tom.2_Missense_Mutation_p.P403L	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C	369	Peptidase S1.		P -> L (in ADPROCD; Osaka-6).		blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CCCGTGGTCCCGCACAATGAG	0.607												
UGGT1	56886	broad.mit.edu	37	2	128861559	128861559	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:128861559G>A	uc002tps.2	+	3	426	c.248G>A	c.(247-249)AGT>AAT	p.S83N	UGGT1_uc010fme.1_Intron|UGGT1_uc002tpr.2_Missense_Mutation_p.S59N	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	83					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1						GTAGAAGCCAGTCAAAATATT	0.303												
NEB	4703	broad.mit.edu	37	2	152521935	152521935	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:152521935C>T	uc010fnx.2	-	42	5341	c.5150G>A	c.(5149-5151)CGC>CAC	p.R1717H		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1717	Nebulin 44.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGGTGCTGGCGATACTTCTT	0.488												
ACVR1	90	broad.mit.edu	37	2	158655948	158655948	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:158655948T>C	uc002tzm.3	-	4	397	c.58A>G	c.(58-60)AGT>GGT	p.S20G	ACVR1_uc002tzn.3_Missense_Mutation_p.S20G|ACVR1_uc010fog.2_Missense_Mutation_p.S20G	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN	activin A receptor, type I precursor	20					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CCTTCCATACTAGGGGAGGGG	0.328												
COBLL1	22837	broad.mit.edu	37	2	165551084	165551084	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:165551084C>T	uc010zcw.1	-	15	3257	c.3133G>A	c.(3133-3135)GGT>AGT	p.G1045S	COBLL1_uc002ucp.2_Missense_Mutation_p.G978S|COBLL1_uc002ucq.2_Missense_Mutation_p.G940S|COBLL1_uc010zcx.1_Missense_Mutation_p.G986S|COBLL1_uc002ucn.2_Missense_Mutation_p.G406S|COBLL1_uc002uco.2_Missense_Mutation_p.G709S	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	1016										ovary(2)|pancreas(1)	3						GGAGCCTGACCGATGACATCA	0.473												
XIRP2	129446	broad.mit.edu	37	2	167760304	167760304	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:167760304G>A	uc002udx.2	+	1	330	c.312G>A	c.(310-312)CGG>CGA	p.R104R	XIRP2_uc010fpn.2_Silent_p.R104R|XIRP2_uc010fpo.2_Silent_p.R104R|XIRP2_uc010fpp.2_Silent_p.R104R	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TGAGCAGTCGGCGCAGGATTG	0.512												
SLC25A12	8604	broad.mit.edu	37	2	172650198	172650198	+	Missense_Mutation	SNP	G	G	A	rs138477378	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:172650198G>A	uc002uhh.2	-	14	1474	c.1385C>T	c.(1384-1386)ACG>ATG	p.T462M	SLC25A12_uc010fqh.2_Missense_Mutation_p.T355M	NM_003705	NP_003696	O75746	CMC1_HUMAN	solute carrier family 25, member 12	462	Solcar 2.				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)	TCTGGGTCCCGTGGTGATCTC	0.473												
EVX2	344191	broad.mit.edu	37	2	176948324	176948324	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:176948324C>T	uc010zeu.1	-	1	367	c.181G>A	c.(181-183)GCT>ACT	p.A61T		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	61						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCTCCCAGAGCGCTGTGCAGG	0.607												
PDE11A	50940	broad.mit.edu	37	2	178879182	178879182	+	Silent	SNP	T	T	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:178879182T>G	uc002ulq.2	-	2	1236	c.918A>C	c.(916-918)CGA>CGC	p.R306R	PDE11A_uc002ulr.2_Silent_p.R56R|PDE11A_uc002ult.1_Silent_p.R56R	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	306	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CATTGAATCGTCGATCCTAAA	0.398									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial			
TTN	7273	broad.mit.edu	37	2	179395856	179395856	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:179395856C>A	uc010zfg.1	-	307	98006	c.97782G>T	c.(97780-97782)TGG>TGT	p.W32594C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W26289C|TTN_uc010zfi.1_Missense_Mutation_p.W26222C|TTN_uc010zfj.1_Missense_Mutation_p.W26097C|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33521							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)			CTTTACGCAGCCAGGTCACAG	0.512												
TTN	7273	broad.mit.edu	37	2	179446658	179446658	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:179446658C>A	uc010zfg.1	-	264	58958	c.58734G>T	c.(58732-58734)AAG>AAT	p.K19578N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K13273N|TTN_uc010zfi.1_Missense_Mutation_p.K13206N|TTN_uc010zfj.1_Missense_Mutation_p.K13081N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20505							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)			CATAAGCGGCCTTGGATGCGT	0.443												
TTN	7273	broad.mit.edu	37	2	179485026	179485026	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:179485026C>T	uc010zfg.1	-	197	38742	c.38518G>A	c.(38518-38520)GCT>ACT	p.A12840T	TTN_uc010zfh.1_Missense_Mutation_p.A6535T|TTN_uc010zfi.1_Missense_Mutation_p.A6468T|TTN_uc010zfj.1_Missense_Mutation_p.A6343T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13767							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)			GAGAAGACAGCGTCATCGAAC	0.428												
TTN	7273	broad.mit.edu	37	2	179596909	179596909	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:179596909T>C	uc010zfg.1	-	54	13279	c.13055A>G	c.(13054-13056)GAG>GGG	p.E4352G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1013G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5279							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)			TGCAGTAGACTCCACAAAAGA	0.438												
TTN	7273	broad.mit.edu	37	2	179611344	179611344	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:179611344T>C	uc002unb.2	-	46	16007	c.15783A>G	c.(15781-15783)ATA>ATG	p.I5261M	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCTTCCCCTATGATGTTTA	0.428												
SSFA2	6744	broad.mit.edu	37	2	182763754	182763754	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:182763754G>A	uc002uoi.2	+	6	740	c.418G>A	c.(418-420)GCC>ACC	p.A140T	SSFA2_uc002uoh.2_Missense_Mutation_p.A140T|SSFA2_uc002uoj.2_Missense_Mutation_p.A140T|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_5'UTR|SSFA2_uc002uol.2_5'UTR	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	140						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAATATCTTGGCCAAAGAGAG	0.308												
GTF3C3	9330	broad.mit.edu	37	2	197645348	197645348	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:197645348G>A	uc002uts.2	-	9	1243	c.1153C>T	c.(1153-1155)CCA>TCA	p.P385S	GTF3C3_uc010zgu.1_Missense_Mutation_p.P385S|GTF3C3_uc002utu.2_Missense_Mutation_p.P385S|GTF3C3_uc002utt.3_Missense_Mutation_p.P60S	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	385						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						ATATCTATTGGCACGCCATCA	0.403												
MARS2	92935	broad.mit.edu	37	2	198571290	198571290	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:198571290T>C	uc002uuq.2	+	1	1204	c.1161T>C	c.(1159-1161)TAT>TAC	p.Y387Y	uc002uup.2_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	387					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					L-Methionine(DB00134)	GTGACTACTATGATGAAAAGG	0.517												
BMPR2	659	broad.mit.edu	37	2	203384918	203384918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:203384918C>T	uc002uzf.3	+	7	2109	c.961C>T	c.(961-963)CGA>TGA	p.R321*	BMPR2_uc010ftr.2_Nonsense_Mutation_p.R321*	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	321	Protein kinase.|Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						AGAATTACCACGAGGAGGTAA	0.358												
FAM117B	150864	broad.mit.edu	37	2	203622055	203622055	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:203622055C>T	uc010zhx.1	+	6	1234	c.1224C>T	c.(1222-1224)AGC>AGT	p.S408S		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	408										ovary(1)	1						ACAACAGCAGCCGTTCCCAGT	0.582												
ZDBF2	57683	broad.mit.edu	37	2	207171079	207171079	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:207171079A>C	uc002vbp.2	+	5	2077	c.1827A>C	c.(1825-1827)CAA>CAC	p.Q609H		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	609							nucleic acid binding|zinc ion binding			ovary(3)	3						AAGGTAGACAAGTCCACCTAA	0.428												
MDH1B	130752	broad.mit.edu	37	2	207619812	207619812	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:207619812G>A	uc002vbs.2	-	5	886	c.831C>T	c.(829-831)CAC>CAT	p.H277H	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Silent_p.H277H|MDH1B_uc010fuj.2_Silent_p.H179H|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	277					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAATAATGTTGTGTGCAATGC	0.468												
CPS1	1373	broad.mit.edu	37	2	211471488	211471488	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:211471488T>C	uc002vee.3	+	18	2147	c.2015T>C	c.(2014-2016)CTC>CCC	p.L672P	CPS1_uc010fur.2_Missense_Mutation_p.L678P|CPS1_uc010fus.2_Missense_Mutation_p.L221P	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	672	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCCCAGACACTCTCCAATGCC	0.448												
ERBB4	2066	broad.mit.edu	37	2	212286760	212286760	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:212286760C>T	uc002veg.1	-	24	3034	c.2936G>A	c.(2935-2937)CGA>CAA	p.R979Q	ERBB4_uc002veh.1_Missense_Mutation_p.R979Q|ERBB4_uc010zji.1_Missense_Mutation_p.R969Q|ERBB4_uc010zjj.1_Missense_Mutation_p.R969Q	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	979	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTGAGGGTCTCGAGCCATCCT	0.403										TSP Lung(8;0.080)		
SPAG16	79582	broad.mit.edu	37	2	215274982	215274982	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:215274982C>T	uc002veq.2	+	16	1931	c.1839C>T	c.(1837-1839)CAC>CAT	p.H613H	SPAG16_uc002ver.2_Silent_p.H559H|SPAG16_uc010zjk.1_Silent_p.H519H|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	613	WD 7.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGTTTTCTCACGACGGGGAGA	0.502												
TNS1	7145	broad.mit.edu	37	2	218713077	218713077	+	Silent	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:218713077G>T	uc002vgt.2	-	17	2186	c.1788C>A	c.(1786-1788)CCC>CCA	p.P596P	TNS1_uc002vgr.2_Silent_p.P596P|TNS1_uc002vgs.2_Silent_p.P596P|TNS1_uc010zjv.1_Silent_p.P596P|TNS1_uc010fvj.1_Silent_p.P664P|TNS1_uc010fvk.1_Silent_p.P721P|TNS1_uc010fvi.1_Silent_p.P283P	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	596						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGCTGGGTGGGGCCCCTCCC	0.667												
CXCR2	3579	broad.mit.edu	37	2	218999632	218999632	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:218999632C>T	uc002vgz.1	+	4	333	c.108C>T	c.(106-108)GCC>GCT	p.A36A	CXCR2_uc002vha.1_Silent_p.A36A|CXCR2_uc002vhb.1_Silent_p.A36A	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	36	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2						TACTAGATGCCGCCCCATGTG	0.448												
C2orf62	375307	broad.mit.edu	37	2	219227555	219227555	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:219227555G>A	uc002vhr.2	+	6	589	c.560G>A	c.(559-561)CGG>CAG	p.R187Q	C2orf62_uc002vhs.2_Intron	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	187											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGGCCTGGCGGCGGATGGTG	0.587												
RNF25	64320	broad.mit.edu	37	2	219529955	219529955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:219529955G>A	uc002vit.2	-	8	677	c.589C>T	c.(589-591)CAG>TAG	p.Q197*	RNF25_uc010fvw.2_Nonsense_Mutation_p.Q85*	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	197	RING-type.				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGGACACTGCACACCGACT	0.522												
CRYBA2	1412	broad.mit.edu	37	2	219857874	219857874	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:219857874G>A	uc002vjj.1	-	2	60	c.25C>T	c.(25-27)CCG>TCG	p.P9S	CRYBA2_uc002vjk.1_Missense_Mutation_p.P9S	NM_057094	NP_476435	P53672	CRBA2_HUMAN	crystallin, beta A2	9	N-terminal arm.						structural constituent of eye lens				0		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		gcgggcgccgggcccggcgcg	0.572												
FAM134A	79137	broad.mit.edu	37	2	220046873	220046873	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:220046873C>T	uc002vjw.3	+	9	1290	c.1154C>T	c.(1153-1155)TCG>TTG	p.S385L	FAM134A_uc010fwc.2_Missense_Mutation_p.S178L|FAM134A_uc002vjx.2_Missense_Mutation_p.S178L	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	hypothetical protein LOC79137	385						endoplasmic reticulum|integral to membrane				ovary(1)|central_nervous_system(1)	2		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCTGGACTCGGAGGAAGAG	0.612												
ANKZF1	55139	broad.mit.edu	37	2	220100486	220100486	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:220100486G>A	uc002vkg.2	+	12	2034	c.1860G>A	c.(1858-1860)GAG>GAA	p.E620E	ANKZF1_uc002vkh.2_Silent_p.E410E|ANKZF1_uc002vki.2_Silent_p.E620E	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	620	Potential.					intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAAAGGGAGCAGAAGGCAG	0.562												
DNAJB2	3300	broad.mit.edu	37	2	220149476	220149476	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:220149476G>A	uc002vkx.1	+	9	979	c.742G>A	c.(742-744)GAC>AAC	p.D248N	DNAJB2_uc002vkw.1_Missense_Mutation_p.D248N|DNAJB2_uc002vky.2_Missense_Mutation_p.D64N|DNAJB2_uc010zlb.1_Missense_Mutation_p.D64N	NM_006736	NP_006727	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	248					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding				0		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGGACAGCGACCTCTCTGA	0.652												
GMPPA	29926	broad.mit.edu	37	2	220364856	220364856	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:220364856A>G	uc002vlr.2	+	3	122	c.54A>G	c.(52-54)AGA>AGG	p.R18R	GMPPA_uc002vls.2_Silent_p.R18R|GMPPA_uc002vlt.2_Silent_p.R18R|GMPPA_uc002vlu.2_Silent_p.R18R|GMPPA_uc002vlv.2_Silent_p.R18R|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Silent_p.R18R	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	18					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CTCGCTTCAGACCTTTGTCTT	0.582												
GMPPA	29926	broad.mit.edu	37	2	220370238	220370238	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:220370238C>T	uc002vlr.2	+	9	882	c.814C>T	c.(814-816)CGG>TGG	p.R272W	GMPPA_uc002vls.2_Missense_Mutation_p.R272W|GMPPA_uc002vlt.2_Missense_Mutation_p.R272W|GMPPA_uc002vlu.2_Missense_Mutation_p.R272W|GMPPA_uc002vlv.2_Missense_Mutation_p.R272W|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.R272W	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	272					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TCACCCAGAACGGCTGGCCAA	0.647												
TMEM198	130612	broad.mit.edu	37	2	220413997	220413997	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:220413997C>A	uc002vme.2	+	5	1451	c.866C>A	c.(865-867)CCC>CAC	p.P289H	TMEM198_uc002vmf.2_Missense_Mutation_p.P289H|hsa-mir-3132|MI0014152_5'Flank	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	289	Arg-rich.					integral to membrane				ovary(1)	1		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CGGGCTCCTCCCAGGCCTGGG	0.637												
CUL3	8452	broad.mit.edu	37	2	225400346	225400346	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:225400346C>T	uc002vny.2	-	3	661	c.277G>A	c.(277-279)GTA>ATA	p.V93I	CUL3_uc010zls.1_Missense_Mutation_p.V27I|CUL3_uc010fwy.1_Missense_Mutation_p.V99I	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	93					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GAATTTAGTACATCTTCTCGC	0.343												
ALPI	248	broad.mit.edu	37	2	233321901	233321901	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:233321901G>A	uc002vst.3	+	5	594	c.517G>A	c.(517-519)GCC>ACC	p.A173T	ALPI_uc002vsu.3_Missense_Mutation_p.A84T	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	173					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGTGCAGCACGCCTCGCCAGC	0.632												
SH3BP4	23677	broad.mit.edu	37	2	235943690	235943690	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:235943690C>A	uc002vvp.2	+	3	437	c.44C>A	c.(43-45)CCT>CAT	p.P15H	SH3BP4_uc010fym.2_Missense_Mutation_p.P15H|SH3BP4_uc002vvq.2_Missense_Mutation_p.P15H	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	15					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AATGGCCTCCCTCGCTGCAAG	0.547												
GPC1	2817	broad.mit.edu	37	2	241398563	241398563	+	Missense_Mutation	SNP	G	G	A	rs146749086		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:241398563G>A	uc002vyw.3	+	2	504	c.283G>A	c.(283-285)GTC>ATC	p.V95I	PP14571_uc002vyy.1_5'Flank	NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	95					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CAGCAGCCGCGTCCTGCAGGC	0.711												
PASK	23178	broad.mit.edu	37	2	242080060	242080060	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:242080060C>T	uc002wao.1	-	3	397	c.305G>A	c.(304-306)CGG>CAG	p.R102Q	PASK_uc010zol.1_Intron|PASK_uc010zom.1_Missense_Mutation_p.R102Q|PASK_uc010fzl.1_Missense_Mutation_p.R102Q|PASK_uc010zon.1_Intron|PASK_uc002waq.2_Missense_Mutation_p.R102Q	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	102					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CACACTGCCCCGCGGTTCGGA	0.597												
TGM6	343641	broad.mit.edu	37	20	2378642	2378642	+	Missense_Mutation	SNP	G	G	A	rs61743614	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:2378642G>A	uc002wfy.1	+	5	683	c.622G>A	c.(622-624)GTG>ATG	p.V208M	TGM6_uc010gal.1_Missense_Mutation_p.V208M	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	208					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	AGCCACCGACGTGTCCTGCCG	0.592												
NOP56	10528	broad.mit.edu	37	20	2635586	2635586	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:2635586C>T	uc002wgh.2	+	5	615	c.562C>T	c.(562-564)CGT>TGT	p.R188C	NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Missense_Mutation_p.R22C|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	188					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2						CTTCTCTATGCGTGTCAGGTA	0.463												
PLCB4	5332	broad.mit.edu	37	20	9449312	9449312	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:9449312C>T	uc002wnf.2	+	34	3443	c.3307C>T	c.(3307-3309)CGG>TGG	p.R1103W	PLCB4_uc010gbx.2_Missense_Mutation_p.R1115W|PLCB4_uc002wne.2_Missense_Mutation_p.R1103W|PLCB4_uc002wnh.2_Missense_Mutation_p.R950W	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	1103					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						TAAAGCAGAACGGGAAAGGTA	0.418												
C20orf12	55184	broad.mit.edu	37	20	18365044	18365044	+	Nonstop_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:18365044T>C	uc010zsa.1	-	21	2524	c.2315A>G	c.(2314-2316)TAG>TGG	p.*772W	C20orf12_uc010zrz.1_Nonstop_Mutation_p.*291W|C20orf12_uc002wqp.3_Nonstop_Mutation_p.*463W|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Nonstop_Mutation_p.*639W|C20orf12_uc002wqq.3_Nonstop_Mutation_p.*753W	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	772						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)				GCCTCAGGGCTAACAGTCATC	0.388												
ACSS1	84532	broad.mit.edu	37	20	25038512	25038512	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:25038512A>G	uc002wub.2	-	1	1105	c.227T>C	c.(226-228)CTG>CCG	p.L76P	ACSS1_uc002wuc.2_Missense_Mutation_p.L76P|ACSS1_uc010gdc.2_Missense_Mutation_p.L76P	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	76					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTCCCGCGCCAGAGGCCCCCA	0.672												
MYLK2	85366	broad.mit.edu	37	20	30419926	30419926	+	Missense_Mutation	SNP	A	A	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:30419926A>T	uc002wwq.2	+	12	1799	c.1697A>T	c.(1696-1698)AAG>ATG	p.K566M	MYLK2_uc002wws.2_Missense_Mutation_p.K183M|MYLK2_uc010gdw.1_RNA	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	566					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TACCTCATGAAGAGGCGCTGG	0.582												
TTLL9	164395	broad.mit.edu	37	20	30497561	30497561	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:30497561G>A	uc010gdx.1	+	6	593	c.340G>A	c.(340-342)GTG>ATG	p.V114M	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	114	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAACTACATGGTGAAGAACCT	0.607												
TM9SF4	9777	broad.mit.edu	37	20	30730868	30730868	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:30730868C>T	uc002wxj.2	+	6	847	c.612C>T	c.(610-612)GTC>GTT	p.V204V	TM9SF4_uc010ztr.1_Silent_p.V130V|TM9SF4_uc010zts.1_Silent_p.V111V|TM9SF4_uc002wxk.2_Silent_p.V187V|TM9SF4_uc010gdz.2_Silent_p.V111V	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	204						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGTACCGTGTCGTCCGCTTCG	0.592												
TM9SF4	9777	broad.mit.edu	37	20	30734633	30734633	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:30734633C>T	uc002wxj.2	+	9	1164	c.929C>T	c.(928-930)GCC>GTC	p.A310V	TM9SF4_uc010ztr.1_Missense_Mutation_p.A236V|TM9SF4_uc010zts.1_Missense_Mutation_p.A217V|TM9SF4_uc002wxk.2_Missense_Mutation_p.A293V|TM9SF4_uc010gdz.2_Missense_Mutation_p.A217V	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	310						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAGGACATTGCCAACTACAAC	0.532												
ASXL1	171023	broad.mit.edu	37	20	31024830	31024830	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:31024830G>A	uc002wxs.2	+	12	4741	c.4315G>A	c.(4315-4317)GCA>ACA	p.A1439T	ASXL1_uc010geb.2_Missense_Mutation_p.A1330T	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1439					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						CATCAAGCAGGCATTTTATGG	0.517			F|N|Mis		MDS|CMML							
CBFA2T2	9139	broad.mit.edu	37	20	32232401	32232401	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:32232401G>A	uc002wzg.1	+	12	2301	c.1764G>A	c.(1762-1764)TCG>TCA	p.S588S	CBFA2T2_uc010zug.1_Silent_p.S362S|CBFA2T2_uc002wze.1_Silent_p.S579S|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.S559S|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Silent_p.S136S	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	588						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						CAACCACATCGCGTTCCTCAA	0.637												
RALY	22913	broad.mit.edu	37	20	32660136	32660136	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:32660136G>T	uc002xab.2	+	3	554	c.256G>T	c.(256-258)GAC>TAC	p.D86Y	RALY_uc010zui.1_Missense_Mutation_p.D86Y|RALY_uc002xac.2_Missense_Mutation_p.D86Y|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.D86Y	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	86	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1						GCAGACCCTGGGTAAGCCTCT	0.537												
PHF20	51230	broad.mit.edu	37	20	34526919	34526919	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:34526919G>A	uc002xek.1	+	16	2712	c.2601G>A	c.(2599-2601)GCG>GCA	p.A867A		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	867					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					TCGACGATGCGGTCAACCCCC	0.622												
EPB41L1	2036	broad.mit.edu	37	20	34785928	34785928	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:34785928C>G	uc002xfb.2	+	14	1804	c.1633C>G	c.(1633-1635)CCC>GCC	p.P545A	EPB41L1_uc002xeu.2_Missense_Mutation_p.P471A|EPB41L1_uc010zvo.1_Missense_Mutation_p.P545A|EPB41L1_uc002xev.2_Missense_Mutation_p.P545A|EPB41L1_uc002xew.2_Missense_Mutation_p.P436A|EPB41L1_uc002xex.2_Missense_Mutation_p.P502A|EPB41L1_uc002xey.2_Missense_Mutation_p.P460A|EPB41L1_uc002xez.2_Missense_Mutation_p.P471A|EPB41L1_uc010gfq.2_5'UTR	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	545					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					CCCCGCCTCCCCCTCCCCCAA	0.612												
DHX35	60625	broad.mit.edu	37	20	37634835	37634835	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:37634835G>A	uc002xjh.2	+	12	1069	c.1058G>A	c.(1057-1059)GGC>GAC	p.G353D	DHX35_uc010zwa.1_Missense_Mutation_p.G198D|DHX35_uc010zwb.1_Missense_Mutation_p.G198D|DHX35_uc010zwc.1_Missense_Mutation_p.G322D	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	353	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				ACAATCAGCGGCATTGTGTAT	0.453												
CHD6	84181	broad.mit.edu	37	20	40081514	40081514	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:40081514G>A	uc002xka.1	-	21	3367	c.3189C>T	c.(3187-3189)GAC>GAT	p.D1063D		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1063					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CCATGAGCTCGTCTTCCTCAA	0.522												
SPINLW1	57119	broad.mit.edu	37	20	44171359	44171359	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:44171359A>C	uc002xou.2	-	3	403	c.371T>G	c.(370-372)CTG>CGG	p.L124R	SPINLW1_uc010zxc.1_Missense_Mutation_p.L124R|SPINLW1_uc002xot.2_Missense_Mutation_p.L108R|SPINLW1_uc002xov.1_3'UTR	NM_020398	NP_065131	O95925	EPPI_HUMAN	serine peptidase inhibitor-like, with Kunitz and	124	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				GCAGGTGTTCAGGCAGTTGGC	0.498												
ARFGEF2	10564	broad.mit.edu	37	20	47592562	47592562	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:47592562G>T	uc002xtx.3	+	14	1936	c.1784G>T	c.(1783-1785)AGG>ATG	p.R595M		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	595					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGTCAGGAGAGGCTCACGGAT	0.552												
STAU1	6780	broad.mit.edu	37	20	47734557	47734557	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:47734557G>A	uc002xud.2	-	11	1677	c.1266C>T	c.(1264-1266)CCC>CCT	p.P422P	STAU1_uc002xua.2_Silent_p.P341P|STAU1_uc002xub.2_Silent_p.P347P|STAU1_uc002xuc.2_Silent_p.P341P|STAU1_uc002xue.2_Silent_p.P341P|STAU1_uc002xuf.2_Silent_p.P347P|STAU1_uc002xug.2_Silent_p.P422P	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	422						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GGGCGACCTCGGGCACCATGG	0.517												
PARD6B	84612	broad.mit.edu	37	20	49354499	49354499	+	Missense_Mutation	SNP	G	G	A	rs142377445		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:49354499G>A	uc002xvo.2	+	2	415	c.172G>A	c.(172-174)GTT>ATT	p.V58I		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	PAR-6 beta	58	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			kidney(1)	1						CAATGTTGACGTTTTGGTAGG	0.383												
ADNP	23394	broad.mit.edu	37	20	49510515	49510515	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:49510515G>A	uc002xvt.1	-	5	1081	c.736C>T	c.(736-738)CGT>TGT	p.R246C	ADNP_uc002xvu.1_Missense_Mutation_p.R246C	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	246						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TAGCCTATACGTTCATGGTCT	0.468												
ATP9A	10079	broad.mit.edu	37	20	50346505	50346505	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:50346505C>T	uc002xwg.1	-	2	81	c.81G>A	c.(79-81)TGG>TGA	p.W27*	ATP9A_uc010gih.1_Nonsense_Mutation_p.W12*	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	27	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						AGCATCTCAGCCACTCGCAGC	0.602												
CSTF1	1477	broad.mit.edu	37	20	54974190	54974190	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:54974190T>A	uc002xxl.1	+	5	1013	c.813T>A	c.(811-813)AAT>AAA	p.N271K	CSTF1_uc002xxm.1_Missense_Mutation_p.N271K|CSTF1_uc002xxn.1_Missense_Mutation_p.N271K|CSTF1_uc002xxo.1_Missense_Mutation_p.N214K	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	271	WD 4.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(1)	1			Colorectal(105;0.202)			TTAATTACAATTCTAGTGCCA	0.393												
PHACTR3	116154	broad.mit.edu	37	20	58420272	58420272	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:58420272A>G	uc002yau.2	+	12	2083	c.1616A>G	c.(1615-1617)TAC>TGC	p.Y539C	PHACTR3_uc002yat.2_Missense_Mutation_p.Y536C|PHACTR3_uc010zzw.1_Missense_Mutation_p.Y498C|PHACTR3_uc002yav.2_Missense_Mutation_p.Y498C|PHACTR3_uc002yaw.2_Missense_Mutation_p.Y498C|PHACTR3_uc002yax.2_Missense_Mutation_p.Y428C|PHACTR3_uc002yay.2_Missense_Mutation_p.Y108C	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	539						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TTAAATGAGTACAAAAGTAAT	0.313												
PPP1R3D	5509	broad.mit.edu	37	20	58514392	58514392	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:58514392C>T	uc002ybb.2	-	1	961	c.595G>A	c.(595-597)GCC>ACC	p.A199T	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	199	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			TTCTCGAAGGCCACGTTGCAC	0.701												
CDH4	1002	broad.mit.edu	37	20	60509202	60509202	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:60509202C>T	uc002ybn.1	+	15	2482	c.2468C>T	c.(2467-2469)CCG>CTG	p.P823L	CDH4_uc002ybp.1_Missense_Mutation_p.P749L	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	823	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GATGAGCGGCCGGTGGGCGCT	0.677												
TAF4	6874	broad.mit.edu	37	20	60551346	60551346	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:60551346T>G	uc002ybs.2	-	15	3136	c.3136A>C	c.(3136-3138)ACC>CCC	p.T1046P		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	1046					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TGTCTGGGGGTTCCGACACCC	0.557												
GMEB2	26205	broad.mit.edu	37	20	62223391	62223391	+	Silent	SNP	G	G	A	rs145663342		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:62223391G>A	uc002yfp.1	-	8	1415	c.936C>T	c.(934-936)TAC>TAT	p.Y312Y	GMEB2_uc002yfo.1_Silent_p.Y234Y|GMEB2_uc002yfq.1_Silent_p.Y312Y	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	312	Potential.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGTCCCGGGCGTACTGCTCCC	0.647												
ZBTB46	140685	broad.mit.edu	37	20	62421759	62421759	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:62421759C>T	uc002ygv.1	-	2	553	c.352G>A	c.(352-354)GTG>ATG	p.V118M	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CAGGCTTGCACGATGTCCGTC	0.602												
NCAM2	4685	broad.mit.edu	37	21	22849643	22849643	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:22849643A>G	uc002yld.1	+	15	2177	c.1928A>G	c.(1927-1929)AAA>AGA	p.K643R	NCAM2_uc011acb.1_Missense_Mutation_p.K501R	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	643	Fibronectin type-III 2.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTAGAGAAAAAAGTGCAAGGA	0.353												
NCAM2	4685	broad.mit.edu	37	21	22881367	22881367	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:22881367C>T	uc002yld.1	+	16	2522	c.2273C>T	c.(2272-2274)GCT>GTT	p.A758V	NCAM2_uc011acb.1_Missense_Mutation_p.A616V	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	758	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GAAGGAAAAGCTGCATACCTG	0.453												
RNF160	26046	broad.mit.edu	37	21	30339315	30339315	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:30339315C>T	uc002ymr.2	-	10	1649	c.1636G>A	c.(1636-1638)GCG>ACG	p.A546T	RNF160_uc010gll.1_RNA	NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	500							ligase activity|zinc ion binding				0						CTGATTTTCGCAACACAGATC	0.438												
KRTAP19-4	337971	broad.mit.edu	37	21	31869351	31869351	+	Silent	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:31869351G>T	uc011acz.1	-	1	78	c.78C>A	c.(76-78)GGC>GGA	p.G26G		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	26						intermediate filament				ovary(2)	2						CACATCCACAGCCATAGCCAT	0.547												
TIAM1	7074	broad.mit.edu	37	21	32496898	32496898	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:32496898A>G	uc002yow.1	-	28	4720	c.4248T>C	c.(4246-4248)CCT>CCC	p.P1416P	TIAM1_uc011adk.1_Silent_p.P1416P|TIAM1_uc011adl.1_Silent_p.P1356P	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1416					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TGCCTCCAAAAGGGACATATT	0.537												
GART	2618	broad.mit.edu	37	21	34889350	34889350	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:34889350C>A	uc002yrx.2	-	16	2188	c.2053G>T	c.(2053-2055)GGA>TGA	p.G685*	GART_uc002yrz.2_Nonsense_Mutation_p.G685*|GART_uc010gmd.2_Nonsense_Mutation_p.G347*|GART_uc002yry.2_Nonsense_Mutation_p.G685*	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	685	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	TCTAGTAATCCTCCACCAGTA	0.448												
RUNX1	861	broad.mit.edu	37	21	36164838	36164838	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:36164838C>T	uc002yuh.2	-	6	2534	c.956G>A	c.(955-957)CGC>CAC	p.R319H	RUNX1_uc002yui.2_Missense_Mutation_p.R255H|RUNX1_uc010gmu.2_Missense_Mutation_p.R346H|RUNX1_uc010gmv.2_Missense_Mutation_p.R346H|RUNX1_uc002yuj.3_Missense_Mutation_p.R214H|RUNX1_uc002yuk.3_Missense_Mutation_p.R346H	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	319	Interaction with MYST3.|Interaction with MYST4 (By similarity).|Pro/Ser/Thr-rich.			Missing: No DNA-binding.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R346fs*137(2)		haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						ATAGTGCATGCGGGGGTCGGA	0.701			T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies			
B3GALT5	10317	broad.mit.edu	37	21	41032654	41032654	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:41032654T>C	uc002yyb.1	+	5	760	c.168T>C	c.(166-168)CCT>CCC	p.P56P	B3GALT5_uc002yye.2_Silent_p.P56P|B3GALT5_uc002yyi.1_Silent_p.P56P|B3GALT5_uc002yyj.1_Silent_p.P56P|B3GALT5_uc002yyk.1_Silent_p.P56P|B3GALT5_uc002yyl.1_Silent_p.P56P|B3GALT5_uc002yym.1_Silent_p.P56P	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta	56	Lumenal (Potential).				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			skin(1)	1		Prostate(19;2.55e-06)				GGCAGACACCTCCCTTCCTCG	0.512												
MX2	4600	broad.mit.edu	37	21	42762585	42762585	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:42762585C>T	uc002yzf.1	+	6	930	c.826C>T	c.(826-828)CTG>TTG	p.L276L	MX2_uc011aer.1_Intron|MX2_uc002yzg.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	276					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CACGGAGGCGCTGAGCATGGC	0.458												
MX1	4599	broad.mit.edu	37	21	42821193	42821193	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:42821193C>T	uc002yzh.2	+	16	2350	c.1403C>T	c.(1402-1404)CCG>CTG	p.P468L	MX1_uc002yzi.2_Missense_Mutation_p.P468L|MX1_uc010goq.2_Missense_Mutation_p.P468L	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	468					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CTGGAAGAGCCGGCTGTGGAT	0.458												
UMODL1	89766	broad.mit.edu	37	21	43519071	43519071	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:43519071G>A	uc002zaf.1	+	7	967	c.967G>A	c.(967-969)GTC>ATC	p.V323I	UMODL1_uc002zad.1_Missense_Mutation_p.V251I|UMODL1_uc002zae.1_Missense_Mutation_p.V251I|UMODL1_uc002zag.1_Missense_Mutation_p.V323I|UMODL1_uc010gow.1_Missense_Mutation_p.V115I|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.V68I	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	323	Extracellular (Potential).|Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						GGTCCTCAACGTCACCAGTGA	0.502												
POFUT2	23275	broad.mit.edu	37	21	46697010	46697010	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:46697010G>A	uc002zhc.2	-	6	778	c.753C>T	c.(751-753)GAC>GAT	p.D251D	POFUT2_uc002zha.2_RNA|POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Silent_p.D251D	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	251					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		TCCTGAACTCGTCTCCCACCT	0.627												
COL18A1	80781	broad.mit.edu	37	21	46925087	46925087	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:46925087C>T	uc011afs.1	+	35	4165	c.4144C>T	c.(4144-4146)CCT>TCT	p.P1382S	COL18A1_uc002zhg.2_Missense_Mutation_p.P967S|COL18A1_uc002zhi.2_Missense_Mutation_p.P1147S|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_5'UTR|COL18A1_uc002zhk.2_5'Flank	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1385	Triple-helical region 9 (COL9).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCCGGCCCACCTGGACCTCA	0.726												
TUBA8	51807	broad.mit.edu	37	22	18604386	18604386	+	Silent	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:18604386C>A	uc002znv.1	+	2	217	c.144C>A	c.(142-144)TCC>TCA	p.S48S	TUBA8_uc002znr.2_5'UTR|TUBA8_uc002znw.1_Silent_p.S72S|TUBA8_uc002znu.1_Silent_p.S48S	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	48					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0						ATGATGACTCCTTCACCACCT	0.552												
DGCR2	9993	broad.mit.edu	37	22	19052470	19052470	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:19052470G>A	uc002zoq.1	-	4	687	c.439C>T	c.(439-441)CGC>TGC	p.R147C	DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Missense_Mutation_p.R103C	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	147	Extracellular (Potential).|C-type lectin.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)					CCATTCAGGCGCTGGCAGGTC	0.642												
TBX1	6899	broad.mit.edu	37	22	19752515	19752515	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:19752515G>A	uc002zqb.2	+	6	848	c.719G>A	c.(718-720)CGC>CAC	p.R240H	TBX1_uc002zqa.1_Missense_Mutation_p.R240H|TBX1_uc002zqc.2_Missense_Mutation_p.R240H	NM_080646	NP_542377	O43435	TBX1_HUMAN	T-box 1 isoform A	240	T-box.				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)	2	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				TACCAGCCCCGCTTCCACGTG	0.547												
ARVCF	421	broad.mit.edu	37	22	19969123	19969123	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:19969123C>T	uc002zqz.2	-	5	778	c.507G>A	c.(505-507)CTG>CTA	p.L169L	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_Silent_p.L169L	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	169					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					CACCACCACGCAGCAGGAAAT	0.682												
KLHL22	84861	broad.mit.edu	37	22	20800825	20800825	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:20800825G>A	uc002zsl.1	-	6	1553	c.1444C>T	c.(1444-1446)CGG>TGG	p.R482W	KLHL22_uc011ahr.1_Missense_Mutation_p.R339W	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	482	Kelch 4.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CAGGCGCGCCGCACAGGCCCA	0.602												
HIC2	23119	broad.mit.edu	37	22	21799242	21799242	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:21799242G>T	uc002zur.3	+	3	288	c.58G>T	c.(58-60)GGG>TGG	p.G20W	HIC2_uc002zus.3_Missense_Mutation_p.G20W	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	20					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CGGGGACATGGGGCCCGACAT	0.647												
HIC2	23119	broad.mit.edu	37	22	21799520	21799520	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:21799520C>T	uc002zur.3	+	3	566	c.336C>T	c.(334-336)GCC>GCT	p.A112A	HIC2_uc002zus.3_Silent_p.A112A	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	112					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACCAGCCAGCCGAGCCCAACT	0.617												
PPM1F	9647	broad.mit.edu	37	22	22280022	22280022	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:22280022C>T	uc002zvp.1	-	7	1019	c.905G>A	c.(904-906)CGC>CAC	p.R302H	PPM1F_uc011aik.1_Missense_Mutation_p.R198H|PPM1F_uc002zvq.2_Missense_Mutation_p.R302H	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	302					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TGCTTCAATGCGCGCCTTCTC	0.627												
PISD	23761	broad.mit.edu	37	22	32015604	32015604	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:32015604C>T	uc003alm.3	-	8	1231	c.1224G>A	c.(1222-1224)TCG>TCA	p.S408S	PISD_uc003alk.2_Silent_p.S374S|PISD_uc003all.2_3'UTR|PISD_uc011alr.1_Silent_p.S373S|PISD_uc003aln.3_Silent_p.S370S	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	408					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	GACTCTAGAGCGAGCCCAGGG	0.532												
MYH9	4627	broad.mit.edu	37	22	36690176	36690176	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:36690176C>T	uc003apg.2	-	28	4030	c.3799G>A	c.(3799-3801)GTG>ATG	p.V1267M		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1267	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TCTGTGCGCACGCGCTCTCCC	0.657			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
TRIOBP	11078	broad.mit.edu	37	22	38119860	38119860	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:38119860G>A	uc003atr.2	+	7	1568	c.1297G>A	c.(1297-1299)GCC>ACC	p.A433T	TRIOBP_uc003atu.2_Missense_Mutation_p.A261T|TRIOBP_uc003atq.1_Missense_Mutation_p.A433T|TRIOBP_uc003ats.1_Missense_Mutation_p.A261T	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	433					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					AACATCCTGCGCCCAGCGGGA	0.582												
DDX17	10521	broad.mit.edu	37	22	38882439	38882439	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:38882439C>T	uc003avy.3	-	13	1800	c.1697G>A	c.(1696-1698)CGT>CAT	p.R566H	DDX17_uc003avw.3_Missense_Mutation_p.R18H|DDX17_uc010gxp.2_Missense_Mutation_p.R16H|DDX17_uc003avx.3_Missense_Mutation_p.R564H	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	DEAD box polypeptide 17 isoform 3	485					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			skin(3)|upper_aerodigestive_tract(1)	4	Melanoma(58;0.0286)					GTAACGAGAACGACCACCTAA	0.423												
TAB1	10454	broad.mit.edu	37	22	39826100	39826100	+	Missense_Mutation	SNP	G	G	A	rs151213024	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:39826100G>A	uc003axt.2	+	11	1437	c.1388G>A	c.(1387-1389)CGC>CAC	p.R463H	TAB1_uc003axr.2_Missense_Mutation_p.R539H|TAB1_uc011aok.1_Missense_Mutation_p.R297H|TAB1_uc003axu.1_Intron	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	463					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)	1						GGCCTCTTCCGCTCCCGGCCC	0.647												
PPPDE2	27351	broad.mit.edu	37	22	41999312	41999312	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:41999312G>A	uc003ban.1	-	5	437	c.364C>T	c.(364-366)CGG>TGG	p.R122W	PPPDE2_uc011apb.1_RNA	NM_015704	NP_056519	Q6ICB0	PPDE2_HUMAN	PPPDE peptidase domain containing 2	122	PPPDE peptidase.										0						GGAATCTTCCGCCCAGTCAGG	0.502												
CYP2D6	1565	broad.mit.edu	37	22	42523547	42523547	+	Missense_Mutation	SNP	C	C	T	rs79489631		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:42523547C>T	uc003bce.2	-	7	1165	c.1075G>A	c.(1075-1077)GTG>ATG	p.V359M	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.V53M|CYP2D6_uc003bcf.2_Missense_Mutation_p.V308M	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	359							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			breast(1)|skin(1)	2						TCATGAATCACGGCAGTGGTG	0.592												
TCF20	6942	broad.mit.edu	37	22	42608372	42608372	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:42608372C>T	uc003bcj.1	-	1	3074	c.2940G>A	c.(2938-2940)CCG>CCA	p.P980P	TCF20_uc003bck.1_Silent_p.P980P|TCF20_uc003bnt.2_Silent_p.P980P	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	980					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						TGCTGTCTTGCGGGCCATAGT	0.592												
FBLN1	2192	broad.mit.edu	37	22	45939288	45939288	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:45939288C>T	uc003bgj.1	+	11	1350	c.1203C>T	c.(1201-1203)AAC>AAT	p.N401N	FBLN1_uc003bgg.1_Silent_p.N401N|FBLN1_uc003bgh.2_Silent_p.N401N|FBLN1_uc010gzz.2_Silent_p.N439N|FBLN1_uc003bgi.1_Silent_p.N401N	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	401	EGF-like 6; calcium-binding.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CAGATGTCAACGAGTGCCAGC	0.612												
PKDREJ	10343	broad.mit.edu	37	22	46653549	46653549	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:46653549G>A	uc003bhh.2	-	1	5671	c.5671C>T	c.(5671-5673)CGG>TGG	p.R1891W		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	1891	Extracellular (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GAATTAAACCGCTGCTGTTCT	0.403												
CELSR1	9620	broad.mit.edu	37	22	46929555	46929555	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:46929555C>T	uc003bhw.1	-	1	3513	c.3513G>A	c.(3511-3513)CCG>CCA	p.P1171P		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1171	Extracellular (Potential).|Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCGCCTCCAGCGGCCGGTTGT	0.657												
GRAMD4	23151	broad.mit.edu	37	22	47054103	47054103	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:47054103G>A	uc003bhx.2	+	3	342	c.303G>A	c.(301-303)CTG>CTA	p.L101L	GRAMD4_uc010had.2_Silent_p.L40L	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	101	Potential.				apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TCCGGAAGCTGCGAGAAGAAA	0.662												
ZBED4	9889	broad.mit.edu	37	22	50279692	50279692	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:50279692G>A	uc003bix.2	+	2	2852	c.2382G>A	c.(2380-2382)GCG>GCA	p.A794A		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	794						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGGGAAGCGTGGGTGACCT	0.632												
PANX2	56666	broad.mit.edu	37	22	50615930	50615930	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:50615930G>A	uc003bjn.3	+	2	789	c.789G>A	c.(787-789)GCG>GCA	p.A263A	PANX2_uc003bjp.3_Silent_p.A129A|PANX2_uc003bjo.3_Silent_p.A263A	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	263	Extracellular (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CGCTGGGCGCGTCCCCGGACG	0.697												
MIOX	55586	broad.mit.edu	37	22	50925873	50925873	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:50925873G>T	uc003bll.1	+	2	189	c.75G>T	c.(73-75)AAG>AAT	p.K25N	MIOX_uc003blm.1_Missense_Mutation_p.K25N|MIOX_uc003bln.1_Missense_Mutation_p.K25N	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	25					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity				0		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCAAAGACAAGGCCAGCTTCC	0.592												
CNTN4	152330	broad.mit.edu	37	3	2908528	2908528	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:2908528A>G	uc003bpc.2	+	7	768	c.547A>G	c.(547-549)AAA>GAA	p.K183E	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.K183E	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	183	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTATATTGCCAAAGTAGAAAA	0.428												
GPD1L	23171	broad.mit.edu	37	3	32200523	32200523	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:32200523C>T	uc003cew.2	+	6	834	c.774C>T	c.(772-774)TGC>TGT	p.C258C		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	258					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity				0						TAGAGAGCTGCGGGGTGGCCG	0.612												
NBEAL2	23218	broad.mit.edu	37	3	47036838	47036838	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:47036838G>A	uc003cqp.2	+	13	1792	c.1613G>A	c.(1612-1614)CGC>CAC	p.R538H	NBEAL2_uc003cqq.1_Missense_Mutation_p.R504H|NBEAL2_uc010hjm.1_Missense_Mutation_p.R99H	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	538							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CACCTGCTGCGCCCCCGGCCA	0.647												
CELSR3	1951	broad.mit.edu	37	3	48670411	48670411	+	Silent	SNP	G	G	A	rs13084591		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:48670411G>A	uc003cuf.1	-	39	10611	c.10611C>T	c.(10609-10611)TCC>TCT	p.S3537S	SLC26A6_uc003cug.2_Silent_p.S122S|SLC26A6_uc003cuh.2_Silent_p.S143S|SLC26A6_uc010hke.2_5'UTR|SLC26A6_uc003cuk.2_Silent_p.S143S|SLC26A6_uc003cui.2_Silent_p.S143S|SLC26A6_uc003cuj.2_Silent_p.S143S|SLC26A6_uc011bbp.1_Silent_p.S143S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTTACCCACGGAGATGTGCC	0.617												
QRICH1	54870	broad.mit.edu	37	3	49084635	49084635	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:49084635T>C	uc010hkq.2	-	5	1679	c.1383A>G	c.(1381-1383)CCA>CCG	p.P461P	QRICH1_uc003cvu.2_Silent_p.P461P|QRICH1_uc003cvv.2_Silent_p.P461P	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	461	Gln-rich.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGGAAGGCTGTGGCTGTGACT	0.433												
LAMB2	3913	broad.mit.edu	37	3	49168259	49168259	+	Missense_Mutation	SNP	C	C	T	rs144771072		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:49168259C>T	uc003cwe.2	-	8	1249	c.950G>A	c.(949-951)CGT>CAT	p.R317H	LAMB2_uc003cwf.1_Missense_Mutation_p.R317H	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	317	Laminin EGF-like 1.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTTGAGGCCACGTGTGTTGTG	0.572												
NICN1	84276	broad.mit.edu	37	3	49463813	49463813	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:49463813G>A	uc003cwz.1	-	2	266	c.181C>T	c.(181-183)CGT>TGT	p.R61C	NICN1_uc003cxa.2_RNA|NICN1_uc011bcr.1_Missense_Mutation_p.R61C	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN	nicolin 1	61						microtubule|nucleus					0				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGACGGACACGGATGCTCAAA	0.532												
RBM6	10180	broad.mit.edu	37	3	50005613	50005613	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:50005613C>T	uc003cyc.2	+	3	888	c.755C>T	c.(754-756)ACG>ATG	p.T252M	RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	252					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GACAGGGATACGCCACATTCA	0.438												
DOCK3	1795	broad.mit.edu	37	3	51418838	51418838	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:51418838C>T	uc011bds.1	+	53	5964	c.5941C>T	c.(5941-5943)CGC>TGC	p.R1981C		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1981						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTACCACCCCCGCCTGCCGGC	0.697												
RBM15B	29890	broad.mit.edu	37	3	51430611	51430611	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:51430611G>T	uc003dbd.2	+	1	1881	c.1781G>T	c.(1780-1782)CGG>CTG	p.R594L		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	594	Nuclear localization signal (Potential).				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAAGAGAGGCGGAAACGGAGA	0.617												
STAB1	23166	broad.mit.edu	37	3	52551616	52551616	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:52551616C>T	uc003dej.2	+	44	4688	c.4614C>T	c.(4612-4614)TGC>TGT	p.C1538C	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1538	EGF-like 12.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCCGGACCTGCGAGCTCCTGG	0.627												
ITIH4	3700	broad.mit.edu	37	3	52857988	52857988	+	Missense_Mutation	SNP	C	C	T	rs74971919	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:52857988C>T	uc003dfz.2	-	10	1240	c.1204G>A	c.(1204-1206)GTG>ATG	p.V402M	ITIH4_uc011bel.1_Missense_Mutation_p.V132M|ITIH4_uc003dfy.2_Missense_Mutation_p.V266M|ITIH4_uc011bem.1_Missense_Mutation_p.V402M|ITIH4_uc011ben.1_Missense_Mutation_p.V402M	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	402	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GCTTCCCGCACGTTATTCTGG	0.542												
DCP1A	55802	broad.mit.edu	37	3	53326747	53326747	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:53326747C>T	uc003dgs.3	-	7	828	c.735G>A	c.(733-735)TTG>TTA	p.L245L	DCP1A_uc003dgt.3_RNA	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	DCP1 decapping enzyme homolog A	245					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CATCTCCTGGCAACCTCTCCA	0.498												
WNT5A	7474	broad.mit.edu	37	3	55513421	55513421	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:55513421G>A	uc003dhn.2	-	3	630	c.312C>T	c.(310-312)TGC>TGT	p.C104C	WNT5A_uc003dhm.2_Silent_p.C89C|WNT5A_uc010hmw.2_Silent_p.C89C|WNT5A_uc010hmx.2_Silent_p.C15C	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	104					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		ATTGATACTGGCATTCTTTGA	0.458												
ERC2	26059	broad.mit.edu	37	3	56468490	56468490	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:56468490A>G	uc003dhr.1	-	2	802	c.546T>C	c.(544-546)ATT>ATC	p.I182I		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	182	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		AGAAAGTCTTAATACTGTTCA	0.488												
CADPS	8618	broad.mit.edu	37	3	62636706	62636706	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:62636706A>G	uc003dll.2	-	5	1379	c.1019T>C	c.(1018-1020)ATT>ACT	p.I340T	CADPS_uc003dlm.2_Missense_Mutation_p.I340T|CADPS_uc003dln.2_Missense_Mutation_p.I340T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	340					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAGCTCCTCAATGTACATGTT	0.443												
MAGI1	9223	broad.mit.edu	37	3	65342612	65342612	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:65342612T>C	uc003dmn.2	-	23	4356	c.3830A>G	c.(3829-3831)AAT>AGT	p.N1277S	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1306					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTGGTGTTCATTGGGTTGTCT	0.607												
MAGI1	9223	broad.mit.edu	37	3	65425596	65425596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:65425596G>A	uc003dmn.2	-	9	1754	c.1228C>T	c.(1228-1230)CAG>TAG	p.Q410*	MAGI1_uc003dmm.2_Nonsense_Mutation_p.Q410*|MAGI1_uc003dmo.2_Nonsense_Mutation_p.Q410*|MAGI1_uc003dmp.2_Nonsense_Mutation_p.Q410*|MAGI1_uc010hny.2_Nonsense_Mutation_p.Q295*	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	410	Poly-Gln.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		tgctgttgctgctgctgttgc	0.343											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TMPRSS7	344805	broad.mit.edu	37	3	111766641	111766641	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:111766641G>A	uc010hqb.2	+	5	578	c.408G>A	c.(406-408)CTG>CTA	p.L136L	TMPRSS7_uc011bhr.1_5'UTR	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	262	Extracellular (Potential).|CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						ACTACCCGCTGGAGATTTCTG	0.473												
CCDC52	152185	broad.mit.edu	37	3	113172563	113172563	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:113172563G>T	uc003eag.3	-	14	2183	c.1892C>A	c.(1891-1893)TCC>TAC	p.S631Y	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.S527Y	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	631					cell division|mitosis	centriole|spindle	protein binding				0						GTTGGAATGGGAATTGCAGAG	0.473												
QTRTD1	79691	broad.mit.edu	37	3	113784223	113784223	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:113784223G>A	uc003eay.2	+	3	349	c.119G>A	c.(118-120)GGC>GAC	p.G40D	QTRTD1_uc003eaz.2_Missense_Mutation_p.G52D|QTRTD1_uc011biq.1_Intron|QTRTD1_uc011bir.1_Intron|QTRTD1_uc003eba.2_5'Flank	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain	40					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|skin(1)	2						ACCAAGACTGGCTCCGCCCCA	0.507												
POLQ	10721	broad.mit.edu	37	3	121207550	121207550	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:121207550G>T	uc003eee.3	-	16	4357	c.4228C>A	c.(4228-4230)CTG>ATG	p.L1410M	POLQ_uc003eed.2_Missense_Mutation_p.L582M	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1410					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TCTGGAGTCAGGATATCAACC	0.378								DNA_polymerases_(catalytic_subunits)				
PARP9	83666	broad.mit.edu	37	3	122247346	122247346	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:122247346G>A	uc010hri.2	-	11	2575	c.2430C>T	c.(2428-2430)GGC>GGT	p.G810G	PARP9_uc003eff.3_Silent_p.G775G|PARP9_uc011bjs.1_Silent_p.G775G|PARP9_uc003efg.2_Silent_p.G355G|PARP9_uc003efi.2_Silent_p.G775G|PARP9_uc003efh.2_Silent_p.G810G	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	810	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)|prostate(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0519)		TAGCCTGCATGCCACTAAAAA	0.448												
ALDH1L1	10840	broad.mit.edu	37	3	125873468	125873468	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:125873468C>T	uc003eim.1	-	6	839	c.649G>A	c.(649-651)GCA>ACA	p.A217T	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.2_5'UTR|ALDH1L1_uc010hsf.1_Missense_Mutation_p.A243T|ALDH1L1_uc003eip.1_Missense_Mutation_p.A124T|ALDH1L1_uc011bkj.1_Missense_Mutation_p.A42T	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	217					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ATGGCCTCTGCCGGCTGGTCC	0.557												
IFT122	55764	broad.mit.edu	37	3	129198669	129198669	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:129198669G>A	uc003emm.2	+	13	1598	c.1392G>A	c.(1390-1392)GAG>GAA	p.E464E	IFT122_uc003eml.2_Silent_p.E515E|IFT122_uc003emn.2_Silent_p.E405E|IFT122_uc003emo.2_Silent_p.E353E|IFT122_uc003emp.2_Silent_p.E314E|IFT122_uc010htc.2_Silent_p.E456E|IFT122_uc011bky.1_Silent_p.E255E|IFT122_uc003emq.2_Silent_p.E304E|IFT122_uc003emr.2_Silent_p.E255E|IFT122_uc011bla.1_Silent_p.E255E|IFT122_uc011bkx.1_Silent_p.E304E|IFT122_uc011bkz.1_RNA|IFT122_uc010htd.1_5'Flank	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	464					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						GAGTGAAGGAGCGGGAGTGGC	0.547												
PLXND1	23129	broad.mit.edu	37	3	129304808	129304808	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:129304808C>T	uc003emx.2	-	5	1938	c.1838G>A	c.(1837-1839)CGC>CAC	p.R613H		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	613	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						GTACTCCTGGCGCACATCGAT	0.657												
COL6A6	131873	broad.mit.edu	37	3	130300576	130300576	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:130300576C>A	uc010htl.2	+	8	3750	c.3719C>A	c.(3718-3720)GCT>GAT	p.A1240D	COL6A6_uc003eni.3_5'Flank	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1240	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GTCAGTGTGGCTTTTCAAGTG	0.443												
DNAJC13	23317	broad.mit.edu	37	3	132175582	132175582	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:132175582G>A	uc003eor.2	+	12	1320	c.1255G>A	c.(1255-1257)GTT>ATT	p.V419I	DNAJC13_uc010htq.1_Missense_Mutation_p.V419I|DNAJC13_uc003eos.1_Missense_Mutation_p.V86I	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	419							heat shock protein binding			ovary(1)|breast(1)	2						AGGGGATGTCGTTGCTTCAAA	0.438												
SRPRB	58477	broad.mit.edu	37	3	133534433	133534433	+	Splice_Site	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:133534433G>T	uc003epx.1	+	5	427	c.411_splice	c.e5-1	p.G137_splice		NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, beta							endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			ovary(1)	1						TCTCCCTCCAGGGCTATTGTG	0.418												
ZBTB38	253461	broad.mit.edu	37	3	141163525	141163525	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:141163525T>C	uc003etw.2	+	8	3277	c.2295T>C	c.(2293-2295)GGT>GGC	p.G765G	ZBTB38_uc010hun.2_Silent_p.G762G|ZBTB38_uc010huo.2_Silent_p.G765G|ZBTB38_uc003ety.2_Silent_p.G765G|ZBTB38_uc010hup.2_Silent_p.G766G	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	765					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						ATAAAGTGGGTAGGTTTGCAA	0.483												
MLF1	4291	broad.mit.edu	37	3	158320655	158320655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:158320655C>T	uc003fcb.2	+	6	765	c.628C>T	c.(628-630)CGA>TGA	p.R210*	MLF1_uc003fbz.2_Nonsense_Mutation_p.R185*|MLF1_uc003fca.2_Nonsense_Mutation_p.R185*|MLF1_uc003fbx.2_Nonsense_Mutation_p.R200*|MLF1_uc003fcc.2_Nonsense_Mutation_p.R241*|MLF1_uc003fby.2_Nonsense_Mutation_p.R136*|MLF1_uc010hvx.2_Nonsense_Mutation_p.R142*	NM_022443	NP_071888	P58340	MLF1_HUMAN	myeloid leukemia factor 1 isoform 1	210					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			CAAACCAGGACGACACAATCT	0.383			T	NPM1	AML							
SCHIP1	29970	broad.mit.edu	37	3	158980401	158980401	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:158980401C>A	uc003fcq.1	+	4	325	c.220C>A	c.(220-222)CCA>ACA	p.P74T	SCHIP1_uc003fcr.1_5'UTR|IQCJ_uc003fco.2_Missense_Mutation_p.P74T|IQCJ_uc010hvy.1_Missense_Mutation_p.P47T|IQCJ_uc003fcp.1_Missense_Mutation_p.P74T	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	Error:Variant_position_missing_in_Q9P0W5_after_alignment						cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GAGCCCGTCCCCACCCTCTGT	0.532												
BCHE	590	broad.mit.edu	37	3	165491234	165491234	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:165491234A>G	uc003fem.3	-	4	1905	c.1745T>C	c.(1744-1746)ATG>ACG	p.M582T	BCHE_uc003fen.3_RNA	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	582					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)	CCAGTCCATCATGTAATTGTT	0.313												
ZBBX	79740	broad.mit.edu	37	3	167023611	167023611	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:167023611A>G	uc003fep.2	-	17	1868	c.1545T>C	c.(1543-1545)AGT>AGC	p.S515S	ZBBX_uc011bpc.1_Silent_p.S515S|ZBBX_uc003feq.2_Silent_p.S486S	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	515						intracellular	zinc ion binding			ovary(2)	2						ACTTTTGATTACTTTCTAAAC	0.348												
NAALADL2	254827	broad.mit.edu	37	3	174814794	174814794	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:174814794C>T	uc003fit.2	+	2	345	c.258C>T	c.(256-258)TCC>TCT	p.S86S	NAALADL2_uc003fiu.1_Silent_p.S79S	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	86	Cytoplasmic (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ATCTTGATTCCATTCAACCAG	0.443												
HTR3E	285242	broad.mit.edu	37	3	183823624	183823624	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:183823624C>T	uc010hxq.2	+	7	1258	c.792C>T	c.(790-792)ATC>ATT	p.I264I	HTR3E_uc003fml.3_Silent_p.I249I|HTR3E_uc003fmm.2_Silent_p.I279I|HTR3E_uc010hxr.2_Silent_p.I290I|HTR3E_uc003fmn.2_Silent_p.I264I	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	264	Helical; Name=1; (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGGTTGCCATCGATGCCCTCA	0.547												
MAP3K13	9175	broad.mit.edu	37	3	185191163	185191163	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:185191163C>A	uc010hyf.2	+	12	2310	c.2044C>A	c.(2044-2046)CCA>ACA	p.P682T	MAP3K13_uc011brt.1_Missense_Mutation_p.P475T|MAP3K13_uc011bru.1_Missense_Mutation_p.P538T|MAP3K13_uc003fpi.2_Missense_Mutation_p.P682T|MAP3K13_uc010hyg.2_Missense_Mutation_p.P372T	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	682					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCTGCGGAGCCCACTCAGCAA	0.592												
LIPH	200879	broad.mit.edu	37	3	185237017	185237017	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:185237017C>T	uc003fpm.2	-	6	909	c.799G>A	c.(799-801)GCG>ACG	p.A267T	LIPH_uc010hyh.2_Missense_Mutation_p.A233T	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	lipase, member H precursor	267					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			ovary(1)|pancreas(1)	2	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAGGGATACGCAGTGATGGTG	0.473												
ADIPOQ	9370	broad.mit.edu	37	3	186570969	186570969	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:186570969C>T	uc003fra.2	+	2	206	c.122C>T	c.(121-123)GCG>GTG	p.A41V	ADIPOQ_uc010hyy.2_Missense_Mutation_p.A41V	NM_004797	NP_004788	Q15848	ADIPO_HUMAN	adiponectin precursor	41					brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			ovary(1)	1	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		GGTTGGATGGCGGGCATCCCA	0.617												
MFI2	4241	broad.mit.edu	37	3	196744090	196744090	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:196744090G>A	uc003fxk.3	-	7	897	c.784C>T	c.(784-786)CGG>TGG	p.R262W		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	262	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		ACATCGGCCCGGCTACCATCC	0.682												
PIGG	54872	broad.mit.edu	37	4	515707	515707	+	Missense_Mutation	SNP	G	G	A	rs143362968		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:515707G>A	uc003gak.3	+	8	1727	c.1591G>A	c.(1591-1593)GTG>ATG	p.V531M	PIGG_uc003gaj.3_Missense_Mutation_p.V523M|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.V398M|PIGG_uc003gal.3_Missense_Mutation_p.V442M|PIGG_uc003gai.2_Intron|PIGG_uc011buw.1_3'UTR|PIGG_uc003gam.2_3'UTR|PIGG_uc003gan.2_Missense_Mutation_p.V442M	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	531					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						CAACGTGCTCGTGGGTGGAAA	0.577												
FGFRL1	53834	broad.mit.edu	37	4	1018752	1018752	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:1018752C>T	uc003gce.2	+	7	1293	c.1132C>T	c.(1132-1134)CCC>TCC	p.P378S	FGFRL1_uc003gcf.2_Missense_Mutation_p.P378S|FGFRL1_uc003gcg.2_Missense_Mutation_p.P378S|FGFRL1_uc010ibo.2_Missense_Mutation_p.P378S	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	378	Extracellular (Potential).			Missing (in Ref. 3; AAK15273).	regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCTGCCGTGGCCCGTGGTCAT	0.682												
CRIPAK	285464	broad.mit.edu	37	4	1389203	1389203	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:1389203G>A	uc003gdf.2	+	1	3864	c.904G>A	c.(904-906)GCT>ACT	p.A302T		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	302					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCCGCCTGCTCACACGTG	0.677												
HGFAC	3083	broad.mit.edu	37	4	3449908	3449908	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:3449908G>A	uc003ghc.2	+	13	1693	c.1690G>A	c.(1690-1692)GAC>AAC	p.D564N	HGFAC_uc010icw.2_Missense_Mutation_p.D571N	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	564	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTGGTCGCCGACCACAAGTG	0.662												
TADA2B	93624	broad.mit.edu	37	4	7056395	7056395	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:7056395C>T	uc003gjw.3	+	2	1028	c.877C>T	c.(877-879)CGG>TGG	p.R293W	TADA2B_uc010idi.2_Missense_Mutation_p.R218W	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						AGAACTGCAGCGGTACCGGCG	0.522												
GPR78	27201	broad.mit.edu	37	4	8584304	8584304	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:8584304G>A	uc003glk.2	+	2	1134	c.715G>A	c.(715-717)GCC>ACC	p.A239T	CPZ_uc003gll.2_RNA	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	239	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6						CCGCCACCGCGCCACCAGGAA	0.622												
PPARGC1A	10891	broad.mit.edu	37	4	23815550	23815550	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:23815550T>C	uc003gqs.2	-	8	1676	c.1556A>G	c.(1555-1557)GAT>GGT	p.D519G	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	519					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				GCTCAGTTTATCACTTTCATC	0.398												
LGI2	55203	broad.mit.edu	37	4	25005583	25005583	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:25005583C>T	uc003grf.2	-	8	1227	c.1128G>A	c.(1126-1128)GCG>GCA	p.A376A		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	376	EAR 4.					extracellular region					0		Breast(46;0.173)				CAACAAACTCCGCATCCGTGT	0.483												
GUF1	60558	broad.mit.edu	37	4	44680700	44680700	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:44680700G>T	uc003gww.3	+	1	268	c.61G>T	c.(61-63)GGG>TGG	p.G21W	GUF1_uc010ifz.1_RNA	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	21					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						ACGAGCCACTGGGGCCGCGCT	0.731												
NFXL1	152518	broad.mit.edu	37	4	47901438	47901438	+	Missense_Mutation	SNP	G	G	A	rs139473913	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:47901438G>A	uc010igh.2	-	6	952	c.775C>T	c.(775-777)CGT>TGT	p.R259C	NFXL1_uc003gxp.2_Missense_Mutation_p.R259C|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.R259C	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	259						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						TTAAATTCACGCTCACATACT	0.388												
SPATA18	132671	broad.mit.edu	37	4	52944991	52944991	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:52944991T>G	uc003gzl.2	+	8	1389	c.1111T>G	c.(1111-1113)TTT>GTT	p.F371V	SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.F339V|SPATA18_uc003gzk.1_Missense_Mutation_p.F371V	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18 homolog	371					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			ovary(2)|skin(2)	4			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCGAATGACTTTGAGAATGC	0.383												
FIP1L1	81608	broad.mit.edu	37	4	54324899	54324899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:54324899C>T	uc003gzy.2	+	17	1765	c.1579C>T	c.(1579-1581)CGA>TGA	p.R527*	PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Nonsense_Mutation_p.R521*|FIP1L1_uc003gzz.2_Nonsense_Mutation_p.R453*|FIP1L1_uc003hab.2_Nonsense_Mutation_p.R492*|FIP1L1_uc003hac.2_Nonsense_Mutation_p.R281*|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Silent_p.N111N|FIP1L1_uc003hae.2_Silent_p.N114N	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	527	Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.|Glu-rich.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAAAGAAGAACGACATAGAGA	0.388			T	PDGFRA	idiopathic hypereosinophilic syndrome							
AASDH	132949	broad.mit.edu	37	4	57211364	57211364	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:57211364T>C	uc003hbn.2	-	12	2734	c.2581A>G	c.(2581-2583)ACC>GCC	p.T861A	AASDH_uc010ihb.2_Missense_Mutation_p.T376A|AASDH_uc011caa.1_Intron|AASDH_uc003hbo.2_Missense_Mutation_p.T761A|AASDH_uc011cab.1_Missense_Mutation_p.T376A|AASDH_uc010ihc.2_Intron	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	861					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GGATCCATGGTTGCCGAGCTT	0.358												
GC	2638	broad.mit.edu	37	4	72618268	72618268	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:72618268G>A	uc003hge.2	-	11	1515	c.1362C>T	c.(1360-1362)TCC>TCT	p.S454S	GC_uc003hgd.2_Silent_p.S332S|GC_uc010iie.2_Silent_p.S454S|GC_uc010iif.2_Silent_p.S473S	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	454	Albumin 3.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GTGAGTTTATGGAACAGCAGT	0.453												
CXCL9	4283	broad.mit.edu	37	4	76927393	76927393	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:76927393G>A	uc003hjh.1	-	2	138	c.99C>T	c.(97-99)TGC>TGT	p.C33C		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	small inducible cytokine B9 precursor	33					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGGTGCTGATGCAGGAACAGC	0.428												
FAM13A	10144	broad.mit.edu	37	4	89670128	89670128	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:89670128A>G	uc003hse.1	-	17	2344	c.2136T>C	c.(2134-2136)CTT>CTC	p.L712L	FAM13A_uc003hsa.1_Silent_p.L183L|FAM13A_uc003hsb.1_Silent_p.L386L|FAM13A_uc003hsd.1_Silent_p.L386L|FAM13A_uc003hsc.1_Silent_p.L372L|FAM13A_uc011cdq.1_Silent_p.L358L|FAM13A_uc003hsf.1_Silent_p.L298L|FAM13A_uc003hsg.1_Silent_p.L183L|FAM13A_uc010ikr.1_Silent_p.L208L	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	712	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2						GGAATTTGGCAAGGTCATTTG	0.483												
MTTP	4547	broad.mit.edu	37	4	100510863	100510863	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:100510863G>T	uc003hvc.3	+	5	713	c.457G>T	c.(457-459)GCT>TCT	p.A153S	MTTP_uc011cej.1_Missense_Mutation_p.A180S	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	153	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GAGAGGTCTGGCTAGCCTATT	0.398												
USP53	54532	broad.mit.edu	37	4	120192809	120192809	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:120192809T>C	uc003ics.3	+	15	2860	c.1794T>C	c.(1792-1794)AGT>AGC	p.S598S	USP53_uc003icr.3_Silent_p.S598S|USP53_uc003icu.3_Silent_p.S221S|USP53_uc003ict.2_Silent_p.S221S	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	ubiquitin specific protease 53	598					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			ovary(1)|breast(1)|kidney(1)|skin(1)	4						GTATTTTTAGTGAAAGTGAAA	0.368												
BBS7	55212	broad.mit.edu	37	4	122774171	122774171	+	Silent	SNP	G	G	A	rs140478463		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:122774171G>A	uc003ied.2	-	8	963	c.789C>T	c.(787-789)GAC>GAT	p.D263D	BBS7_uc003iee.1_Silent_p.D263D	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	263					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						CCACCATTCCGTCATCTCTCC	0.323									Bardet-Biedl_syndrome			
PCDH10	57575	broad.mit.edu	37	4	134072659	134072659	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:134072659A>G	uc003iha.2	+	1	2190	c.1364A>G	c.(1363-1365)GAT>GGT	p.D455G	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.D455G	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	455	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CAAGTGTCGGATGTGAACGAC	0.622												
PCDH18	54510	broad.mit.edu	37	4	138451760	138451760	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:138451760C>T	uc003ihe.3	-	1	1870	c.1483G>A	c.(1483-1485)GGA>AGA	p.G495R	PCDH18_uc003ihf.3_Missense_Mutation_p.G488R|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.G275R|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	495	Extracellular (Potential).|Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					CCATTTTCTCCAAGATCAGGA	0.413												
DCLK2	166614	broad.mit.edu	37	4	151000401	151000401	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:151000401G>A	uc003ilm.3	+	1	322	c.222G>A	c.(220-222)GCG>GCA	p.A74A	DCLK2_uc003iln.3_Silent_p.A74A|DCLK2_uc003ilo.3_Silent_p.A74A|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	74	Doublecortin 1.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					CCAAGAAGGCGCGCTTCTACC	0.647												
SFRP2	6423	broad.mit.edu	37	4	154709663	154709663	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:154709663C>T	uc003inv.1	-	1	566	c.325G>A	c.(325-327)GAG>AAG	p.E109K		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	109	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				TGGATGGTCTCGTCTAGGTCA	0.652												
GRIA2	2891	broad.mit.edu	37	4	158224724	158224724	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:158224724G>A	uc003ipm.3	+	3	709	c.250G>A	c.(250-252)GGA>AGA	p.G84R	GRIA2_uc011cit.1_Missense_Mutation_p.G37R|GRIA2_uc003ipl.3_Missense_Mutation_p.G84R|GRIA2_uc003ipk.3_Missense_Mutation_p.G37R|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	84	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GTTTTCGAGAGGAGTCTATGC	0.378												
GRIA2	2891	broad.mit.edu	37	4	158233935	158233935	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:158233935T>C	uc003ipm.3	+	4	1033	c.574T>C	c.(574-576)TAC>CAC	p.Y192H	GRIA2_uc011cit.1_Missense_Mutation_p.Y145H|GRIA2_uc003ipl.3_Missense_Mutation_p.Y192H|GRIA2_uc003ipk.3_Missense_Mutation_p.Y145H|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	192	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGATGAGATGTACCGATCACT	0.403												
TLL1	7092	broad.mit.edu	37	4	166913974	166913974	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:166913974C>A	uc003irh.1	+	3	946	c.299C>A	c.(298-300)GCT>GAT	p.A100D	TLL1_uc011cjn.1_Missense_Mutation_p.A100D|TLL1_uc011cjo.1_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	100					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGAGACCATGCTATGTCAAAG	0.358												
TLL1	7092	broad.mit.edu	37	4	166986981	166986981	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:166986981A>G	uc003irh.1	+	16	2801	c.2154A>G	c.(2152-2154)GTA>GTG	p.V718V	TLL1_uc011cjn.1_Silent_p.V741V|TLL1_uc011cjo.1_Silent_p.V542V	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	718	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACAATACTGTATCCAAGAAGG	0.363												
SORBS2	8470	broad.mit.edu	37	4	186578702	186578702	+	Missense_Mutation	SNP	G	G	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:186578702G>C	uc003iyl.2	-	6	1001	c.143C>G	c.(142-144)ACC>AGC	p.T48S	SORBS2_uc003iyh.2_Missense_Mutation_p.T227S|SORBS2_uc011ckw.1_Missense_Mutation_p.T117S|SORBS2_uc003iyi.2_Missense_Mutation_p.T134S|SORBS2_uc011ckx.1_Missense_Mutation_p.T94S|SORBS2_uc003iyk.2_Missense_Mutation_p.T134S|SORBS2_uc003iym.2_Missense_Mutation_p.T148S|SORBS2_uc003iyn.1_Missense_Mutation_p.T94S|SORBS2_uc011cky.1_Missense_Mutation_p.T111S|SORBS2_uc003iyp.2_Missense_Mutation_p.T148S|SORBS2_uc011cku.1_5'Flank|SORBS2_uc011ckv.1_5'Flank|SORBS2_uc003iyd.2_Missense_Mutation_p.T227S|SORBS2_uc003iye.2_Missense_Mutation_p.T48S|SORBS2_uc003iya.2_Missense_Mutation_p.T48S|SORBS2_uc003iyb.2_Missense_Mutation_p.T48S|SORBS2_uc003iyc.2_Missense_Mutation_p.T48S|SORBS2_uc003iyg.2_Missense_Mutation_p.T134S|SORBS2_uc003iyf.2_Missense_Mutation_p.T111S|SORBS2_uc003iyo.1_5'Flank	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	48						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGAGCTGCTGGTGGTGCCATC	0.522												
FRG2	448831	broad.mit.edu	37	4	190947568	190947568	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:190947568C>T	uc003izv.2	-	3	355	c.302G>A	c.(301-303)AGT>AAT	p.S101N	FRG2_uc011clh.1_Missense_Mutation_p.S102N	NM_001005217	NP_001005217	Q64ET8	FRG2_HUMAN	FSHD region gene 2	101						nucleus				ovary(1)	1		all_cancers(14;1.01e-50)|all_epithelial(14;6.7e-35)|all_lung(41;2.17e-14)|Lung NSC(41;4.95e-14)|Breast(6;3.4e-05)|Melanoma(20;0.000539)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|all_hematologic(60;0.0489)|Prostate(90;0.0513)		all cancers(3;3.83e-31)|Epithelial(3;1.36e-30)|OV - Ovarian serous cystadenocarcinoma(60;1.99e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00831)|READ - Rectum adenocarcinoma(43;0.155)		GTCCTTGGAACTCATTTTTCT	0.433												
DNAH5	1767	broad.mit.edu	37	5	13809168	13809168	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:13809168A>G	uc003jfd.2	-	46	7779	c.7737T>C	c.(7735-7737)ATT>ATC	p.I2579I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2579	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CCTGTTTAGCAATGGTTTGAA	0.368									Kartagener_syndrome			
DNAH5	1767	broad.mit.edu	37	5	13811783	13811783	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:13811783G>A	uc003jfd.2	-	44	7422	c.7380C>T	c.(7378-7380)AAC>AAT	p.N2460N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2460					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CTTGAAGCATGTTAATGCTCT	0.418									Kartagener_syndrome			
ZNF622	90441	broad.mit.edu	37	5	16453248	16453248	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:16453248G>A	uc003jfq.2	-	5	1300	c.1180C>T	c.(1180-1182)CGC>TGC	p.R394C		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	394						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						ATCAAGGAGCGATGACCCACT	0.463												
CDH18	1016	broad.mit.edu	37	5	19571934	19571934	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:19571934T>C	uc003jgc.2	-	7	1384	c.1007A>G	c.(1006-1008)AAC>AGC	p.N336S	CDH18_uc003jgd.2_Missense_Mutation_p.N336S|CDH18_uc011cnm.1_Missense_Mutation_p.N336S	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	336	Extracellular (Potential).|Cadherin 3.				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)					TTTCTCATAGTTCAGTGGCTG	0.299												
CDH12	1010	broad.mit.edu	37	5	21975261	21975261	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:21975261A>G	uc010iuc.2	-	3	923	c.465T>C	c.(463-465)GAT>GAC	p.D155D	CDH12_uc011cno.1_Silent_p.D155D|CDH12_uc003jgk.2_Silent_p.D155D	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	155	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TTGGCTCATTATCATTAATAT	0.418										HNSCC(59;0.17)		
PDZD2	23037	broad.mit.edu	37	5	32074276	32074276	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:32074276C>T	uc003jhl.2	+	18	3452	c.3064C>T	c.(3064-3066)CGG>TGG	p.R1022W	PDZD2_uc003jhm.2_Missense_Mutation_p.R1022W|PDZD2_uc011cnx.1_Missense_Mutation_p.R848W	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1022					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GGAACGACCCCGGAAAACACT	0.577												
RXFP3	51289	broad.mit.edu	37	5	33937425	33937425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:33937425C>T	uc003jic.1	+	1	937	c.580C>T	c.(580-582)CGA>TGA	p.R194*		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	194	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CCACCGGACCCGAGGACACGG	0.657												
RXFP3	51289	broad.mit.edu	37	5	33938066	33938066	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:33938066C>T	uc003jic.1	+	1	1578	c.1221C>T	c.(1219-1221)ATC>ATT	p.I407I		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	407	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						TGTGGCGCATCGCGTCTCCTT	0.572												
NIPBL	25836	broad.mit.edu	37	5	36976448	36976448	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:36976448T>C	uc003jkl.3	+	9	1938	c.1439T>C	c.(1438-1440)ATA>ACA	p.I480T	NIPBL_uc003jkk.3_Missense_Mutation_p.I480T|NIPBL_uc003jkm.1_Missense_Mutation_p.I359T	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	480					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTGAGCGAATAGAGAGAGAA	0.383												
DAB2	1601	broad.mit.edu	37	5	39388902	39388902	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:39388902G>A	uc003jlx.2	-	8	1154	c.623C>T	c.(622-624)TCG>TTG	p.S208L	DAB2_uc003jlw.2_Missense_Mutation_p.S208L	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	208					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			AATACATACCGATTTCAGTTT	0.338												
IPO11	51194	broad.mit.edu	37	5	61763069	61763069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:61763069C>T	uc003jtc.2	+	6	818	c.628C>T	c.(628-630)CGA>TGA	p.R210*	IPO11_uc011cqr.1_Nonsense_Mutation_p.R250*|IPO11_uc003jtb.1_Nonsense_Mutation_p.R210*	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	210	HEAT 2.					cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TTCACTAGAACGAACACTGCT	0.373												
RGNEF	64283	broad.mit.edu	37	5	73205327	73205327	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:73205327C>T	uc011csq.1	+	33	4263	c.4252C>T	c.(4252-4254)CGA>TGA	p.R1418*	RGNEF_uc003kcx.2_Nonsense_Mutation_p.R1418*|RGNEF_uc010izf.2_Nonsense_Mutation_p.R1418*|RGNEF_uc011csr.1_Nonsense_Mutation_p.R1105*|RGNEF_uc003kcz.3_Nonsense_Mutation_p.R382*|RGNEF_uc003kda.3_Nonsense_Mutation_p.R338*	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	1418					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		CTCTATCCTCCGAGGCGGCCC	0.627												
SEMA6A	57556	broad.mit.edu	37	5	115783169	115783169	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:115783169C>A	uc010jck.2	-	19	2942	c.2233G>T	c.(2233-2235)GCA>TCA	p.A745S	SEMA6A_uc003krx.3_Missense_Mutation_p.A762S|SEMA6A_uc011cwe.1_Missense_Mutation_p.A124S|SEMA6A_uc003krv.3_Missense_Mutation_p.A172S|SEMA6A_uc003krw.3_Missense_Mutation_p.A222S|SEMA6A_uc010jcj.2_Missense_Mutation_p.A289S	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	745	Cytoplasmic (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGCTGGTCTGCTTTAATGAGC	0.637												
CDC23	8697	broad.mit.edu	37	5	137533959	137533959	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:137533959G>A	uc003lcl.2	-	9	972	c.941C>T	c.(940-942)TCG>TTG	p.S314L		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	cell division cycle protein 23	314					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACTCAACTCCGATTTCATGCT	0.328												
EGR1	1958	broad.mit.edu	37	5	137803660	137803660	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:137803660G>A	uc003ldb.1	+	2	1792	c.1522G>A	c.(1522-1524)GCC>ACC	p.A508T	EGR1_uc011cyu.1_Silent_p.R164R	NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	508					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGCTTTCCCGGCCCAGGTCAG	0.502												
PCDHA3	56145	broad.mit.edu	37	5	140183010	140183010	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:140183010G>A	uc003lhf.2	+	1	2228	c.2228G>A	c.(2227-2229)AGC>AAC	p.S743N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.S743N	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	743	Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTGCTCCAGCGCGGTGGGG	0.637												
PCDHA9	9752	broad.mit.edu	37	5	140229418	140229418	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:140229418C>T	uc003lhu.2	+	1	2062	c.1338C>T	c.(1336-1338)GCC>GCT	p.A446A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.A446A	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	446	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGGCCGACGTGAACG	0.662												
PCDHA10	56139	broad.mit.edu	37	5	140237615	140237615	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:140237615C>T	uc003lhx.2	+	1	1982	c.1982C>T	c.(1981-1983)ACG>ATG	p.T661M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.T661M	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	661	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACGGCCACGGCCACTGTG	0.682												
PCDHGA6	56109	broad.mit.edu	37	5	140755201	140755201	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:140755201G>A	uc003ljy.1	+	1	1551	c.1551G>A	c.(1549-1551)CTG>CTA	p.L517L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.L517L	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	517	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACGCCCTGCGCTCCTTCG	0.607												
PCDHGA12	26025	broad.mit.edu	37	5	140810726	140810726	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:140810726C>T	uc003lkt.1	+	1	569	c.400C>T	c.(400-402)CGT>TGT	p.R134C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R134C	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	134	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTACTTTCGTGAAAGTGA	0.408												
PCDH1	5097	broad.mit.edu	37	5	141242828	141242828	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:141242828C>T	uc003llq.2	-	3	3185	c.3068G>A	c.(3067-3069)CGC>CAC	p.R1023H	PCDH1_uc003llp.2_Missense_Mutation_p.R1023H|PCDH1_uc011dbf.1_Missense_Mutation_p.R1001H	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	1023	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGGGTTGGTGCGGTAGCTGTA	0.632												
SPRY4	81848	broad.mit.edu	37	5	141693947	141693947	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:141693947C>T	uc003lml.2	-	2	986	c.727G>A	c.(727-729)GTG>ATG	p.V243M	SPRY4_uc010jgi.1_Missense_Mutation_p.V266M	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 2	243	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			ovary(1)|lung(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGCACCACGGAGAGAGCA	0.682									Testicular_Cancer_Familial_Clustering_of			
POU4F3	5459	broad.mit.edu	37	5	145719802	145719802	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:145719802G>A	uc003loa.2	+	2	901	c.812G>A	c.(811-813)GGC>GAC	p.G271D		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	271					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCTTCAACGGCAGCGAACGG	0.597												
GPR151	134391	broad.mit.edu	37	5	145895164	145895164	+	Silent	SNP	C	C	T	rs111754680		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:145895164C>T	uc003lod.1	-	1	513	c.513G>A	c.(511-513)CCG>CCA	p.P171P		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	171	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAACCATTCCGGCAGGGGTA	0.512												
PPP2R2B	5521	broad.mit.edu	37	5	145969561	145969561	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:145969561T>C	uc003loe.2	-	9	1806	c.1281A>G	c.(1279-1281)ATA>ATG	p.I427M	PPP2R2B_uc010jgm.2_Missense_Mutation_p.I416M|PPP2R2B_uc003log.3_Missense_Mutation_p.I427M|PPP2R2B_uc003lof.3_Missense_Mutation_p.I427M|PPP2R2B_uc003loi.3_Missense_Mutation_p.I430M|PPP2R2B_uc003loh.3_Missense_Mutation_p.I427M|PPP2R2B_uc003loj.3_Missense_Mutation_p.I407M|PPP2R2B_uc003lok.3_Missense_Mutation_p.I416M|PPP2R2B_uc011dbu.1_Missense_Mutation_p.I433M|PPP2R2B_uc011dbv.1_Missense_Mutation_p.I485M	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	427	WD 7.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGCCACTGCTATAATATTTT	0.403												
PPP2R2B	5521	broad.mit.edu	37	5	145969731	145969731	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:145969731G>A	uc003loe.2	-	9	1636	c.1111C>T	c.(1111-1113)CGT>TGT	p.R371C	PPP2R2B_uc010jgm.2_Missense_Mutation_p.R360C|PPP2R2B_uc003log.3_Missense_Mutation_p.R371C|PPP2R2B_uc003lof.3_Missense_Mutation_p.R371C|PPP2R2B_uc003loi.3_Missense_Mutation_p.R374C|PPP2R2B_uc003loh.3_Missense_Mutation_p.R371C|PPP2R2B_uc003loj.3_Missense_Mutation_p.R351C|PPP2R2B_uc003lok.3_Missense_Mutation_p.R360C|PPP2R2B_uc011dbu.1_Missense_Mutation_p.R377C|PPP2R2B_uc011dbv.1_Missense_Mutation_p.R429C	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	371	WD 6.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCACATCACGCTTGGTGTTT	0.512												
SPINK5	11005	broad.mit.edu	37	5	147488329	147488329	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:147488329G>A	uc003lox.2	+	18	1694	c.1621G>A	c.(1621-1623)GAA>AAA	p.E541K	SPINK5_uc010jgs.1_Missense_Mutation_p.E513K|SPINK5_uc010jgr.2_Missense_Mutation_p.E522K|SPINK5_uc003low.2_Missense_Mutation_p.E541K|SPINK5_uc003loy.2_Missense_Mutation_p.E541K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	541	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTgaagaagaagagaagaa	0.214												
AFAP1L1	134265	broad.mit.edu	37	5	148680716	148680716	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:148680716C>T	uc003lqh.2	+	4	381	c.250C>T	c.(250-252)CGG>TGG	p.R84W	AFAP1L1_uc003lqg.3_Missense_Mutation_p.R84W|AFAP1L1_uc010jgy.2_Missense_Mutation_p.R84W	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	84				R -> Q (in Ref. 2; BAC04664).			protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTGACCTTCGGGACATGCC	0.473												
CSF1R	1436	broad.mit.edu	37	5	149457719	149457719	+	Missense_Mutation	SNP	C	C	T	rs149911279		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:149457719C>T	uc003lrl.2	-	4	880	c.685G>A	c.(685-687)GTT>ATT	p.V229I	CSF1R_uc011dcd.1_Missense_Mutation_p.V81I|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.V229I|CSF1R_uc011dce.1_Missense_Mutation_p.V229I|CSF1R_uc011dcf.1_Missense_Mutation_p.V229I	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	229	Extracellular (Potential).|Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTAACATCAACGCTGCTGGCT	0.577												
PDGFRB	5159	broad.mit.edu	37	5	149515386	149515386	+	Silent	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:149515386G>T	uc003lro.2	-	3	565	c.96C>A	c.(94-96)GGC>GGA	p.G32G	PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Silent_p.G32G	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	32					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGACGACCAGGCCCTGAGAGA	0.582			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML							
SYNPO	11346	broad.mit.edu	37	5	150028591	150028591	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:150028591A>C	uc003lsn.2	+	3	1860	c.1486A>C	c.(1486-1488)AGC>CGC	p.S496R	SYNPO_uc003lso.3_Missense_Mutation_p.S252R|SYNPO_uc003lsp.2_Missense_Mutation_p.S252R	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	496					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGGGGCACCAGCCAGATGGA	0.642												
GRIA1	2890	broad.mit.edu	37	5	153078575	153078575	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:153078575G>A	uc003lva.3	+	10	1759	c.1394G>A	c.(1393-1395)GGA>GAA	p.G465E	GRIA1_uc003luy.3_Missense_Mutation_p.G465E|GRIA1_uc003luz.3_Missense_Mutation_p.G370E|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.G385E|GRIA1_uc011dcx.1_Missense_Mutation_p.G396E|GRIA1_uc011dcy.1_Missense_Mutation_p.G475E|GRIA1_uc011dcz.1_Missense_Mutation_p.G475E|GRIA1_uc010jia.1_Missense_Mutation_p.G445E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	465	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGAAAATACGGAGCCCGAGAC	0.557												
KIF4B	285643	broad.mit.edu	37	5	154394333	154394333	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:154394333G>A	uc010jih.1	+	1	1074	c.914G>A	c.(913-915)AGC>AAC	p.S305N		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	305	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGAGGTAACAGCCACACTCTT	0.438												
ADRA1B	147	broad.mit.edu	37	5	159344355	159344355	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:159344355G>A	uc003lxt.1	+	1	616	c.443G>A	c.(442-444)CGC>CAC	p.R148H		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	148	Cytoplasmic (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			lung(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	ATCGGGGTGCGCTACTCTCTG	0.607												
C1QTNF2	114898	broad.mit.edu	37	5	159781820	159781820	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:159781820C>T	uc003lyd.2	-	2	338	c.334G>A	c.(334-336)GGC>AGC	p.G112S		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	67	Collagen-like.					collagen				skin(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCATCTTGGCCGTCTTTGCCA	0.662												
NKX2-5	1482	broad.mit.edu	37	5	172660142	172660142	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:172660142C>T	uc003mcm.1	-	2	581	c.405G>A	c.(403-405)GCG>GCA	p.A135A	NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	135			A -> T (in ASD-AVCD; somatic mutation).		adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCCGCCGTCGCGCCCGGGGCC	0.697												
TBC1D9B	23061	broad.mit.edu	37	5	179291087	179291087	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:179291087G>A	uc003mlh.2	-	22	3151	c.3114C>T	c.(3112-3114)TTC>TTT	p.F1038F	TBC1D9B_uc003mli.2_Silent_p.F1021F|TBC1D9B_uc003mlj.2_Silent_p.F1020F|TBC1D9B_uc003mlf.2_Silent_p.F112F|TBC1D9B_uc003mlg.2_Silent_p.F197F|TBC1D9B_uc011dgv.1_Silent_p.F197F	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1038						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTCTTCACTGAACATGTTGT	0.552												
IRF4	3662	broad.mit.edu	37	6	401689	401689	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:401689C>T	uc003msz.3	+	7	1124	c.1011C>T	c.(1009-1011)GAC>GAT	p.D337D	IRF4_uc010jne.1_Silent_p.D337D|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.D336D|IRF4_uc003mtc.1_Silent_p.D167D	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	337					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)		TCTACTGGGACGGGCCCCTGG	0.602			T	IGH@	MM 							
HUS1B	135458	broad.mit.edu	37	6	656756	656756	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:656756G>A	uc003mtg.2	-	1	209	c.189C>T	c.(187-189)TTC>TTT	p.F63F	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	63											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GAAACTGCTGGAAGGCCCCCT	0.706												
TDP2	51567	broad.mit.edu	37	6	24667067	24667067	+	Missense_Mutation	SNP	C	C	A	rs140404711	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:24667067C>A	uc003nej.2	-	1	49	c.24G>T	c.(22-24)GAG>GAT	p.E8D	TDP2_uc003nei.2_5'Flank|TDP2_uc010jpu.1_Missense_Mutation_p.E8D|ACOT13_uc010jpv.2_5'Flank|ACOT13_uc003nek.2_5'Flank	NM_016614	NP_057698	O95551	TYDP2_HUMAN	TRAF and TNF receptor-associated protein	8					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			ovary(1)|lung(1)	2						CCCTCCCGCCCTCCAGGCAAC	0.657								Direct_reversal_of_damage|Editing_and_processing_nucleases				
HIST1H3E	8353	broad.mit.edu	37	6	26225781	26225781	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:26225781G>A	uc003nhb.2	+	2	759	c.399G>A	c.(397-399)GGG>GGA	p.G133G	HIST1H3E_uc003nhc.3_Silent_p.G133G	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	133					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GCATTCGTGGGGAGAGGGCGT	0.512											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HIST1H1B	3009	broad.mit.edu	37	6	27835086	27835086	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:27835086G>A	uc003njx.2	-	1	274	c.222C>T	c.(220-222)TAC>TAT	p.Y74Y		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	74	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						TCTCCACGTCGTAGCCACCGG	0.582												
GABBR1	2550	broad.mit.edu	37	6	29581117	29581117	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:29581117C>T	uc003nmt.3	-	12	1805	c.1469G>A	c.(1468-1470)CGT>CAT	p.R490H	GABBR1_uc003nmp.3_Missense_Mutation_p.R373H|GABBR1_uc003nms.3_Missense_Mutation_p.R373H|GABBR1_uc003nmu.3_Missense_Mutation_p.R428H|GABBR1_uc011dlr.1_Missense_Mutation_p.R313H|GABBR1_uc011dls.1_Missense_Mutation_p.R490H	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	490	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	CACACCAGAACGGCCGCCTCC	0.577												
ZFP57	346171	broad.mit.edu	37	6	29641302	29641302	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:29641302C>A	uc011dlw.1	-	4	737	c.586G>T	c.(586-588)GTT>TTT	p.V196F	ZFP57_uc003nnl.3_Missense_Mutation_p.V176F	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	112	C2H2-type 1.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5						GGATTGTGAACAAACTGGTGG	0.542												
HLA-B	3106	broad.mit.edu	37	6	31322883	31322883	+	Splice_Site	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:31322883C>T	uc003nth.2	-	5	1066	c.1012_splice	c.e5+1	p.G338_splice	HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Splice_Site|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Splice_Site_p.G217_splice|HLA-B_uc003nti.1_Intron	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						CCCTTCCCTACCTGAACTCTT	0.577									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of			
TAP1	6890	broad.mit.edu	37	6	32815289	32815289	+	Splice_Site	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:32815289C>T	uc003ocg.2	-	9	2238	c.2083_splice	c.e9+1	p.E695_splice	PSMB8_uc003ocf.2_5'Flank|TAP1_uc011dqi.1_Splice_Site_p.E434_splice	NM_000593	NP_000584	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family						antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			skin(1)	1						GGAGAGAGTACCTGTGTCATA	0.507												
TAPBP	6892	broad.mit.edu	37	6	33272171	33272171	+	Silent	SNP	G	G	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:33272171G>C	uc003odx.1	-	5	1284	c.1113C>G	c.(1111-1113)GTC>GTG	p.V371V	TAPBP_uc010jus.1_Silent_p.V389V|TAPBP_uc003ody.2_3'UTR|TAPBP_uc003odz.2_Silent_p.V371V|TAPBP_uc010jut.1_Silent_p.V284V|TAPBP_uc011drc.1_Silent_p.V371V	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	371	Ig-like C1-type.|Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1						GCTCAGTGGTGACTGGGGGCG	0.667												
ITPR3	3710	broad.mit.edu	37	6	33636318	33636318	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:33636318G>A	uc011drk.1	+	17	2132	c.1913G>A	c.(1912-1914)TGT>TAT	p.C638Y		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	638	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TCTGACCTGTGTGTGTCCAAC	0.597												
PEX6	5190	broad.mit.edu	37	6	42936167	42936167	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:42936167G>A	uc003otf.2	-	7	1642	c.1549C>T	c.(1549-1551)CGG>TGG	p.R517W	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	517					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CGGCGGGCCCGGGAGAAGATG	0.642												
CUL9	23113	broad.mit.edu	37	6	43188260	43188260	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:43188260C>T	uc003ouk.2	+	32	6421	c.6346C>T	c.(6346-6348)CCC>TCC	p.P2116S	CUL9_uc003oul.2_Missense_Mutation_p.P2088S|CUL9_uc010jyk.2_Missense_Mutation_p.P1268S|CUL9_uc003oun.2_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	2116	RING-type 1.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TTGCACCTGCCCCATTGCCGA	0.577												
POLR1C	9533	broad.mit.edu	37	6	43488475	43488475	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:43488475C>A	uc003ovn.2	+	7	825	c.768C>A	c.(766-768)TGC>TGA	p.C256*	POLR1C_uc003ovo.1_Nonsense_Mutation_p.C256*	NM_203290	NP_976035	O15160	RPAC1_HUMAN	RNA polymerase I subunit isoform 1	256					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TGAGCAGGTGCTTCTCACCTG	0.498												
SLC25A27	9481	broad.mit.edu	37	6	46620981	46620981	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:46620981C>T	uc003oyh.2	+	1	303	c.52C>T	c.(52-54)CCC>TCC	p.P18S	CYP39A1_uc003oyf.1_5'Flank|CYP39A1_uc011dwa.1_5'Flank|CYP39A1_uc010jzd.1_5'Flank|SLC25A27_uc011dwb.1_Missense_Mutation_p.P18S|SLC25A27_uc003oyg.2_Missense_Mutation_p.P18S|SLC25A27_uc011dwc.1_5'UTR	NM_004277	NP_004268	O95847	UCP4_HUMAN	solute carrier family 25, member 27	18					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane					0			Lung(136;0.192)			CCAGAGATGGCCCCGAGCGAG	0.677												
DST	667	broad.mit.edu	37	6	56376133	56376133	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:56376133C>A	uc003pdf.2	-	67	12313	c.12285G>T	c.(12283-12285)CAG>CAT	p.Q4095H	DST_uc003pcz.3_Missense_Mutation_p.Q3917H|DST_uc011dxj.1_Missense_Mutation_p.Q3946H|DST_uc011dxk.1_Missense_Mutation_p.Q3957H|DST_uc003pcy.3_Missense_Mutation_p.Q3591H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	6003	Spectrin 11.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTCCAGTAACTGTGGCCCAG	0.428												
OGFRL1	79627	broad.mit.edu	37	6	72006266	72006266	+	Splice_Site	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:72006266T>C	uc003pfx.1	+	5	709	c.546_splice	c.e5+2	p.E182_splice		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1							membrane	receptor activity				0						GAAATTGAGGTAATGCAAGCT	0.313												
COL12A1	1303	broad.mit.edu	37	6	75847173	75847173	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:75847173C>A	uc003phs.2	-	31	5540	c.5374G>T	c.(5374-5376)GGG>TGG	p.G1792W	COL12A1_uc003pht.2_Missense_Mutation_p.G628W	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1792	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TTGCCTTCCCCTGTGGAAGGC	0.393												
PHIP	55023	broad.mit.edu	37	6	79707231	79707231	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:79707231T>A	uc003pir.2	-	19	2327	c.2101A>T	c.(2101-2103)ATG>TTG	p.M701L	PHIP_uc011dyp.1_Missense_Mutation_p.M701L	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	701					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTGCTGTGCATTTGCCGTACA	0.488												
DOPEY1	23033	broad.mit.edu	37	6	83829481	83829481	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:83829481G>T	uc003pjs.1	+	9	1155	c.895G>T	c.(895-897)GGT>TGT	p.G299C	DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	299					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGATAACAACGGTGCTATCAT	0.343												
RARS2	57038	broad.mit.edu	37	6	88228428	88228428	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:88228428G>A	uc003pme.2	-	16	1395	c.1335C>T	c.(1333-1335)TAC>TAT	p.Y445Y	RARS2_uc003pmb.2_Silent_p.Y270Y|RARS2_uc003pmc.2_Silent_p.Y270Y|RARS2_uc003pmd.2_Silent_p.Y82Y|RARS2_uc003pmf.2_RNA	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	445					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		AGCTGAACTTGTAGTCAGATA	0.507												
SLC22A16	85413	broad.mit.edu	37	6	110763701	110763701	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:110763701A>G	uc003puf.2	-	4	996	c.929T>C	c.(928-930)ATC>ACC	p.I310T	SLC22A16_uc003pue.2_Missense_Mutation_p.I291T	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	310					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CTTGGCCATGATGTCAACTAT	0.468												
RFPL4B	442247	broad.mit.edu	37	6	112670995	112670995	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:112670995G>A	uc003pvx.1	+	3	397	c.85G>A	c.(85-87)GTG>ATG	p.V29M		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	29	RING-type.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TTGTACACACGTGTTCTGCTT	0.463												
HS3ST5	222537	broad.mit.edu	37	6	114378682	114378682	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:114378682C>T	uc003pwg.3	-	2	812	c.780G>A	c.(778-780)ACG>ACA	p.T260T	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Silent_p.T260T	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	260	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GCAGAGGTTCCGTGATGAGGC	0.428												
C6orf174	387104	broad.mit.edu	37	6	127796510	127796510	+	Silent	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:127796510G>T	uc003qbd.2	-	6	3526	c.2661C>A	c.(2659-2661)ACC>ACA	p.T887T	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	887						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		GGTCGATGAAGGTCTGCAGCT	0.637												
PTPRK	5796	broad.mit.edu	37	6	128298173	128298173	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:128298173G>A	uc003qbk.2	-	26	4102	c.3735C>T	c.(3733-3735)ATC>ATT	p.I1245I	PTPRK_uc003qbj.2_Silent_p.I1246I|PTPRK_uc010kfc.2_Silent_p.I1252I|PTPRK_uc011ebu.1_Silent_p.I1268I	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1245	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATTGTGTGACGATGAAAGCAG	0.383												
SAMD3	154075	broad.mit.edu	37	6	130535624	130535624	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:130535624C>T	uc003qbv.2	-	5	453	c.127G>A	c.(127-129)GTT>ATT	p.V43I	SAMD3_uc003qbx.2_Missense_Mutation_p.V43I|SAMD3_uc003qbw.2_Missense_Mutation_p.V43I|SAMD3_uc010kfg.1_Missense_Mutation_p.V43I|SAMD3_uc003qby.2_Missense_Mutation_p.V43I|SAMD3_uc003qbz.1_Missense_Mutation_p.V2I	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	43	SAM.									ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AGTTGCTGAACCATCCGATCA	0.418												
MED23	9439	broad.mit.edu	37	6	131943072	131943072	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:131943072A>C	uc003qcs.1	-	6	618	c.444T>G	c.(442-444)ATT>ATG	p.I148M	MED23_uc003qcq.2_Missense_Mutation_p.I148M|MED23_uc003qct.1_Missense_Mutation_p.I148M|MED23_uc011ecb.1_RNA	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	148					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTGTATTAGGAATTGTCAAAA	0.363												
EYA4	2070	broad.mit.edu	37	6	133802626	133802626	+	Silent	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:133802626C>A	uc003qec.3	+	12	1454	c.996C>A	c.(994-996)CCC>CCA	p.P332P	EYA4_uc011ecq.1_Silent_p.P278P|EYA4_uc011ecr.1_Silent_p.P284P|EYA4_uc003qed.3_Silent_p.P332P|EYA4_uc003qee.3_Silent_p.P309P|EYA4_uc011ecs.1_Silent_p.P338P|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	332					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TGCAGAGTCCCTCCACACCCA	0.423												
TNFAIP3	7128	broad.mit.edu	37	6	138196151	138196151	+	Silent	SNP	G	G	A	rs140424499	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:138196151G>A	uc003qhr.2	+	3	531	c.465G>A	c.(463-465)ACG>ACA	p.T155T	TNFAIP3_uc003qhs.2_Silent_p.T155T	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	155	TRAF-binding.|OTU.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)|p.T155T(1)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TTGTTGAAACGGGGCTTTGCT	0.507			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma							
STXBP5	134957	broad.mit.edu	37	6	147684527	147684527	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:147684527G>T	uc003qlz.2	+	24	2763	c.2602G>T	c.(2602-2604)GGC>TGC	p.G868C	STXBP5_uc010khz.1_Missense_Mutation_p.G832C|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.G523C	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	868	WD 12.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGATACCACAGGCTGCTTAAT	0.378												
SASH1	23328	broad.mit.edu	37	6	148852697	148852697	+	Silent	SNP	G	G	A	rs150728102		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:148852697G>A	uc003qme.1	+	13	1939	c.1464G>A	c.(1462-1464)CCG>CCA	p.P488P	SASH1_uc011eeb.1_Silent_p.P249P|SASH1_uc003qmf.1_Intron	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	488							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCTCCCCTCCGCCTTCACAGC	0.537												
ZBTB2	57621	broad.mit.edu	37	6	151686764	151686764	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:151686764G>A	uc003qoh.2	-	3	1572	c.1437C>T	c.(1435-1437)GAC>GAT	p.D479D		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		ATCGCCCTTCGTCTAGGGCAA	0.473												
SYNE1	23345	broad.mit.edu	37	6	152683404	152683404	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:152683404C>T	uc010kiw.2	-	64	10802	c.10200G>A	c.(10198-10200)CAG>CAA	p.Q3400Q	SYNE1_uc003qot.3_Silent_p.Q3407Q|SYNE1_uc003qou.3_Silent_p.Q3400Q|SYNE1_uc010kja.1_Silent_p.Q105Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3400	HAT 6.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACCGGAGAACTGTCGAACGC	0.473										HNSCC(10;0.0054)		
TULP4	56995	broad.mit.edu	37	6	158914604	158914604	+	Splice_Site	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:158914604G>T	uc003qrf.2	+	10	2989	c.1632_splice	c.e10-1	p.R544_splice	TULP4_uc003qrg.2_Splice_Site_p.R544_splice	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1						intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGCCTCCCCAGGATCAGCATT	0.662												
TULP4	56995	broad.mit.edu	37	6	158923693	158923693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:158923693C>T	uc003qrf.2	+	13	4355	c.2998C>T	c.(2998-3000)CAG>TAG	p.Q1000*	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1000					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAAGATGGCCCAGCTGGCCGA	0.731												
SLC22A2	6582	broad.mit.edu	37	6	160679619	160679619	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:160679619G>A	uc003qtf.2	-	1	341	c.171C>T	c.(169-171)GCC>GCT	p.A57A	SLC22A2_uc003qte.1_Silent_p.A57A|SLC22A2_uc003qth.1_Silent_p.A57A	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	57	Extracellular (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GACTCAGCTCGGCCACTCCGG	0.667												
GPR146	115330	broad.mit.edu	37	7	1097822	1097822	+	Missense_Mutation	SNP	C	C	T	rs146511290		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:1097822C>T	uc003sjw.2	+	2	747	c.671C>T	c.(670-672)ACG>ATG	p.T224M	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjx.3_Missense_Mutation_p.T224M|GPR146_uc003sjy.1_Missense_Mutation_p.T224M	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	224	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GACCGGGACACGGGCCGGCTG	0.682												
INTS1	26173	broad.mit.edu	37	7	1510498	1510498	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:1510498G>A	uc003skn.2	-	47	6542	c.6441C>T	c.(6439-6441)TAC>TAT	p.Y2147Y	INTS1_uc003skm.1_Silent_p.Y284Y	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	2147					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ACAGGAGAGCGTACTCAGGCA	0.677												
SDK1	221935	broad.mit.edu	37	7	4026921	4026921	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:4026921A>G	uc003smx.2	+	14	2237	c.2098A>G	c.(2098-2100)ATT>GTT	p.I700V		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	700	Fibronectin type-III 1.				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)		AAACAGTCCTATTCTTTATTA	0.468												
GLCCI1	113263	broad.mit.edu	37	7	8043595	8043595	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:8043595C>A	uc003srk.2	+	2	1074	c.515C>A	c.(514-516)TCT>TAT	p.S172Y		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	172											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CGAACCTCCTCTTTGGATACA	0.418												
ITGB8	3696	broad.mit.edu	37	7	20445782	20445782	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:20445782G>A	uc003suu.2	+	12	2716	c.2011G>A	c.(2011-2013)GAC>AAC	p.D671N	ITGB8_uc011jyh.1_Missense_Mutation_p.D536N	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	671	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						GCATTATGTCGACCAAACTTC	0.423												
TRA2A	29896	broad.mit.edu	37	7	23556005	23556005	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:23556005G>A	uc003swi.2	-	3	527	c.313C>T	c.(313-315)CGG>TGG	p.R105W	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.R4W|TRA2A_uc011jzd.1_Missense_Mutation_p.R4W|TRA2A_uc010kuo.1_RNA	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	105	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TGTCTTCTCCGGTTAGACATT	0.438												
HOXA1	3198	broad.mit.edu	37	7	27135410	27135410	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:27135410G>A	uc003sye.2	-	1	216	c.122C>T	c.(121-123)GCG>GTG	p.A41V	HOXA1_uc003syd.2_Missense_Mutation_p.A41V|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	41						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3						GGCGCTGACCGCGCACGACTG	0.532											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
CREB5	9586	broad.mit.edu	37	7	28858738	28858738	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:28858738G>T	uc003szq.2	+	11	1759	c.1369G>T	c.(1369-1371)GAG>TAG	p.E457*	CREB5_uc003szo.2_Nonsense_Mutation_p.E424*|CREB5_uc003szr.2_Nonsense_Mutation_p.E450*|CREB5_uc003szs.2_Nonsense_Mutation_p.E318*	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	457					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						CCTAGGTCCAGAGAGTAGCCC	0.473												
NPSR1	387129	broad.mit.edu	37	7	34851405	34851405	+	Silent	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:34851405C>A	uc003teg.1	+	4	536	c.408C>A	c.(406-408)ACC>ACA	p.T136T	AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Silent_p.T136T|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.T136T|NPSR1_uc010kww.1_Silent_p.T125T|NPSR1_uc011kar.1_Intron|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	136	Helical; Name=3; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	ACGCCTCTACCTACGTCCTGG	0.488												
AMPH	273	broad.mit.edu	37	7	38469442	38469442	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:38469442C>T	uc003tgu.2	-	14	1251	c.1182G>A	c.(1180-1182)CCG>CCA	p.P394P	AMPH_uc003tgv.2_Silent_p.P394P|AMPH_uc003tgt.2_Silent_p.P147P|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	394					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						ATTTACCTACCGGCTGTACCA	0.348												
VPS41	27072	broad.mit.edu	37	7	38798010	38798010	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:38798010C>T	uc003tgy.2	-	18	1520	c.1494G>A	c.(1492-1494)CGG>CGA	p.R498R	VPS41_uc003tgz.2_Silent_p.R473R|VPS41_uc010kxn.2_Silent_p.R409R	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	498					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						TCAAATGATCCCGAACTGCTT	0.368												
GLI3	2737	broad.mit.edu	37	7	42003945	42003945	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:42003945G>T	uc011kbh.1	-	15	4817	c.4726C>A	c.(4726-4728)CTT>ATT	p.L1576I	GLI3_uc011kbg.1_Missense_Mutation_p.L1517I	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1576					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						ATAACTGCAAGGAATTTGCTT	0.453									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
GLI3	2737	broad.mit.edu	37	7	42006185	42006185	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:42006185C>T	uc011kbh.1	-	15	2577	c.2486G>A	c.(2485-2487)GGC>GAC	p.G829D	GLI3_uc011kbg.1_Missense_Mutation_p.G770D	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	829					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GTCGCTTCTGCCCGGGAGAAG	0.597									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
GLI3	2737	broad.mit.edu	37	7	42012081	42012081	+	Missense_Mutation	SNP	G	G	A	rs141220299		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:42012081G>A	uc011kbh.1	-	13	2049	c.1958C>T	c.(1957-1959)CCG>CTG	p.P653L	GLI3_uc011kbg.1_Missense_Mutation_p.P594L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	653					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GGAATCTCTCGGGGGTGGCGG	0.622									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
HECW1	23072	broad.mit.edu	37	7	43485109	43485109	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:43485109G>A	uc003tid.1	+	11	2943	c.2338G>A	c.(2338-2340)GTG>ATG	p.V780M	HECW1_uc011kbi.1_Missense_Mutation_p.V780M	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	780					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						TAGCGGGCACGTGGAAAGAAG	0.622												
PGAM2	5224	broad.mit.edu	37	7	44104780	44104780	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:44104780G>A	uc003tjs.2	-	1	384	c.349C>T	c.(349-351)CGC>TGC	p.R117C		NM_000290	NP_000281	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2	117					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity				0						TCGAAGGAGCGCCTCCAGATC	0.627												
OGDH	4967	broad.mit.edu	37	7	44715660	44715660	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:44715660A>G	uc003tln.2	+	9	1227	c.1118A>G	c.(1117-1119)AAC>AGC	p.N373S	OGDH_uc003tlm.2_Missense_Mutation_p.N373S|OGDH_uc011kbx.1_Missense_Mutation_p.N369S|OGDH_uc011kby.1_Missense_Mutation_p.N223S|OGDH_uc003tlp.2_Missense_Mutation_p.N384S|OGDH_uc011kbz.1_Missense_Mutation_p.N168S|OGDH_uc003tlo.1_Missense_Mutation_p.N206S	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	373					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	TTGGTGGCCAACCCTTCCCAC	0.562												
CCM2	83605	broad.mit.edu	37	7	45109526	45109526	+	Silent	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:45109526C>A	uc003tmo.2	+	6	857	c.711C>A	c.(709-711)GCC>GCA	p.A237A	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Silent_p.A179A|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Intron|CCM2_uc011kcb.1_Silent_p.A200A|CCM2_uc011kcc.1_3'UTR|CCM2_uc003tms.2_Silent_p.A258A	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	237	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0						TTGATGGGGCCTCTACCCCGA	0.607									Familial_Cerebral_Cavernous_Angioma			
CCM2	83605	broad.mit.edu	37	7	45115560	45115560	+	Silent	SNP	G	G	A	rs147293659		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:45115560G>A	uc003tmo.2	+	10	1385	c.1239G>A	c.(1237-1239)TCG>TCA	p.S413S	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Silent_p.S355S|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Silent_p.S322S|CCM2_uc003tms.2_Silent_p.S434S	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	413					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0						ATGACCGGTCGGCACCCTCAG	0.622									Familial_Cerebral_Cavernous_Angioma			
PKD1L1	168507	broad.mit.edu	37	7	47851502	47851502	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:47851502C>T	uc003tny.1	-	50	7494	c.7494G>A	c.(7492-7494)ACG>ACA	p.T2498T	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Silent_p.T225T	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2498	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CGAGACTCCCCGTAGGGAGGA	0.587												
PKD1L1	168507	broad.mit.edu	37	7	47968829	47968829	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:47968829C>T	uc003tny.1	-	7	1032	c.1032G>A	c.(1030-1032)GCG>GCA	p.A344A		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	344	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AGGCAGTCACCGCCATTGCCT	0.527												
EGFR	1956	broad.mit.edu	37	7	55087030	55087030	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:55087030G>A	uc003tqk.2	+	1	306	c.60G>A	c.(58-60)CCG>CCA	p.P20P	EGFR_uc003tqh.2_Silent_p.P20P|EGFR_uc003tqi.2_Silent_p.P20P|EGFR_uc003tqj.2_Silent_p.P20P|EGFR_uc010kzg.1_Silent_p.P20P	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	20					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGCTCTGCCCGGCGAGTCGGG	0.488		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
GBAS	2631	broad.mit.edu	37	7	56065092	56065092	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:56065092G>A	uc003tre.1	+	9	754	c.746G>A	c.(745-747)CGG>CAG	p.R249Q	GBAS_uc003trf.1_Missense_Mutation_p.R210Q	NM_001483	NP_001474	O75323	NIPS2_HUMAN	nipsnap homolog 2	249						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			central_nervous_system(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAAGACATACGGAATGCAGCA	0.403												
PSPH	5723	broad.mit.edu	37	7	56087422	56087422	+	Missense_Mutation	SNP	C	C	A	rs144281276	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:56087422C>A	uc003trg.2	-	4	509	c.146G>T	c.(145-147)CGG>CTG	p.R49L	PSPH_uc003trh.2_Missense_Mutation_p.R49L|PSPH_uc003tri.2_Missense_Mutation_p.R49L|PSPH_uc003trj.2_Missense_Mutation_p.R78L	NM_004577	NP_004568	P78330	SERB_HUMAN	phosphoserine phosphatase	49					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CATGGCTCGCCGTGTCCTAGG	0.602												
SBDS	51119	broad.mit.edu	37	7	66453459	66453459	+	Nonsense_Mutation	SNP	G	G	A	rs113993998		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:66453459G>A	uc003tvm.1	-	5	836	c.652C>T	c.(652-654)CGA>TGA	p.R218*		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome protein	218					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			ovary(1)	1						TCAATTTCTCGGAAGCAGCCC	0.383			Gene Conversion			AML|MDS			Shwachman-Diamond_syndrome			
WBSCR17	64409	broad.mit.edu	37	7	70885960	70885960	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:70885960C>T	uc003tvy.2	+	5	831	c.831C>T	c.(829-831)AAC>AAT	p.N277N	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	277	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCATTGACAACATCAAACAGG	0.532												
POM121	9883	broad.mit.edu	37	7	72413459	72413459	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:72413459A>G	uc003twk.2	+	11	2927	c.2927A>G	c.(2926-2928)GAG>GGG	p.E976G	POM121_uc003twj.2_Missense_Mutation_p.E711G|POM121_uc010lam.1_Missense_Mutation_p.E711G	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	976	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				GGGGCCGCTGAGGGGCAGCCA	0.657												
NSUN5	55695	broad.mit.edu	37	7	72717909	72717909	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:72717909C>T	uc003txw.2	-	8	1095	c.1059G>A	c.(1057-1059)CGG>CGA	p.R353R	FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Silent_p.R353R|NSUN5_uc003txx.2_Silent_p.R315R|NSUN5_uc011kev.1_Silent_p.R353R	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	NOL1/NOP2/Sun domain family, member 5 isoform 2	353							methyltransferase activity				0		Lung NSC(55;0.163)				AGTAGACGAGCCGCTGCAGGG	0.677												
LIMK1	3984	broad.mit.edu	37	7	73510958	73510958	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:73510958T>C	uc003uaa.1	+	3	324	c.159T>C	c.(157-159)TGT>TGC	p.C53C	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Silent_p.C19C|LIMK1_uc003uac.1_5'Flank	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	53	LIM zinc-binding 1.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				GCAGGTGTTGTGACTGCAGTG	0.612												
CLIP2	7461	broad.mit.edu	37	7	73768325	73768325	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:73768325C>T	uc003uam.2	+	4	1121	c.794C>T	c.(793-795)GCG>GTG	p.A265V	CLIP2_uc003uan.2_Missense_Mutation_p.A265V	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	265	CAP-Gly 2.					microtubule associated complex				skin(3)	3						GGGGCGGTGGCGGGCACCAGG	0.652												
NCF1	653361	broad.mit.edu	37	7	74191648	74191648	+	Silent	SNP	G	G	A	rs146173318	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:74191648G>A	uc003ubb.2	+	2	178	c.108G>A	c.(106-108)TCG>TCA	p.S36S	NCF1_uc010lbs.1_Silent_p.S36S|NCF1_uc011kfh.1_Silent_p.S36S	NM_000265	NP_000256	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	36	PX.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			skin(1)	1						AGGACCTGTCGGAGAAGGTGG	0.597												
PION	54103	broad.mit.edu	37	7	77010626	77010626	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:77010626C>T	uc003ugf.2	-	8	651	c.572G>A	c.(571-573)AGA>AAA	p.R191K	PION_uc003ugg.1_5'UTR	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	191					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						CTTTACCACTCTATTTCCATC	0.284												
PHTF2	57157	broad.mit.edu	37	7	77549656	77549656	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:77549656C>T	uc003ugs.3	+	9	963	c.837C>T	c.(835-837)TCC>TCT	p.S279S	PHTF2_uc003ugo.3_Silent_p.S241S|PHTF2_uc003ugp.2_Silent_p.S241S|PHTF2_uc003ugq.3_Silent_p.S241S|PHTF2_uc010ldv.2_Silent_p.S241S|PHTF2_uc003ugr.3_Silent_p.S245S|PHTF2_uc003ugt.3_Silent_p.S245S|PHTF2_uc003ugu.3_Silent_p.S241S|PHTF2_uc003ugv.2_Silent_p.S104S|PHTF2_uc010ldw.1_Silent_p.S104S	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1						GCTATGTATCCCTTGATGGGA	0.368												
ABCB4	5244	broad.mit.edu	37	7	87049339	87049339	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:87049339A>G	uc003uiv.1	-	19	2445	c.2369T>C	c.(2368-2370)ATG>ACG	p.M790T	ABCB4_uc003uiw.1_Missense_Mutation_p.M790T|ABCB4_uc003uix.1_Missense_Mutation_p.M790T	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	790	ABC transmembrane type-1 2.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTTAAAAGCCATTGACCGCAG	0.413												
ADAM22	53616	broad.mit.edu	37	7	87778316	87778316	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:87778316C>T	uc003ujn.2	+	18	1589	c.1510C>T	c.(1510-1512)CGA>TGA	p.R504*	ADAM22_uc003ujk.1_Nonsense_Mutation_p.R504*|ADAM22_uc003ujl.1_Nonsense_Mutation_p.R504*|ADAM22_uc003ujm.2_Nonsense_Mutation_p.R504*|ADAM22_uc003ujo.2_Nonsense_Mutation_p.R504*|ADAM22_uc003ujp.1_Nonsense_Mutation_p.R556*	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	504	Disintegrin.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CACTGTGTGCCGAGAAGCAGT	0.343												
AKAP9	10142	broad.mit.edu	37	7	91726403	91726403	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:91726403G>A	uc003ulg.2	+	41	10355	c.10130G>A	c.(10129-10131)CGA>CAA	p.R3377Q	AKAP9_uc003ulf.2_Missense_Mutation_p.R3369Q|AKAP9_uc003uli.2_Missense_Mutation_p.R3000Q|AKAP9_uc003ulj.2_Missense_Mutation_p.R1147Q|AKAP9_uc003ull.2_Missense_Mutation_p.R273Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3381	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGCAAACACGACAGCAAATG	0.418			T	BRAF	papillary thyroid							
ANKIB1	54467	broad.mit.edu	37	7	92027653	92027653	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:92027653C>T	uc003ulw.2	+	20	3036	c.2660C>T	c.(2659-2661)GCG>GTG	p.A887V	ANKIB1_uc010lew.1_Missense_Mutation_p.A156V	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	887							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCCTTAGGTGCGATAGGCACT	0.488												
PPP1R9A	55607	broad.mit.edu	37	7	94740584	94740584	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:94740584A>G	uc003unp.2	+	3	1691	c.1409A>G	c.(1408-1410)TAC>TGC	p.Y470C	PPP1R9A_uc010lfj.2_Missense_Mutation_p.Y470C|PPP1R9A_uc011kif.1_Missense_Mutation_p.Y470C|PPP1R9A_uc003unq.2_Missense_Mutation_p.Y470C|PPP1R9A_uc011kig.1_Missense_Mutation_p.Y470C	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	470	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCAACACATACTCCAATGAA	0.373										HNSCC(28;0.073)		
DYNC1I1	1780	broad.mit.edu	37	7	95665061	95665061	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:95665061G>T	uc003uoc.3	+	13	1689	c.1412G>T	c.(1411-1413)GGA>GTA	p.G471V	DYNC1I1_uc003uod.3_Missense_Mutation_p.G454V|DYNC1I1_uc003uob.2_Missense_Mutation_p.G434V|DYNC1I1_uc003uoe.3_Missense_Mutation_p.G451V|DYNC1I1_uc010lfl.2_Missense_Mutation_p.G460V	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	471	WD 4.				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TGTCGTCATGGAAGGTGATTT	0.438												
DLX5	1749	broad.mit.edu	37	7	96650072	96650072	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:96650072C>T	uc003uon.2	-	3	1054	c.846G>A	c.(844-846)GCG>GCA	p.A282A		NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	282					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGGAGGCCAGCGCCAGCGGGT	0.522												
ASNS	440	broad.mit.edu	37	7	97483924	97483924	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:97483924A>G	uc003uot.3	-	10	1712	c.1206T>C	c.(1204-1206)GTT>GTC	p.V402V	ASNS_uc011kin.1_Silent_p.V319V|ASNS_uc003uou.3_Silent_p.V402V|ASNS_uc003uov.3_Silent_p.V402V|ASNS_uc011kio.1_Silent_p.V381V|ASNS_uc003uow.3_Silent_p.V381V|ASNS_uc003uox.3_Silent_p.V319V	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	402	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGCGCGGAGAACATCAAACA	0.353												
LMTK2	22853	broad.mit.edu	37	7	97822375	97822375	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:97822375G>A	uc003upd.1	+	11	2891	c.2598G>A	c.(2596-2598)CCG>CCA	p.P866P		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	866					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGACTGTCCCGGTTGAAATTC	0.557												
CYP3A7	1551	broad.mit.edu	37	7	99315208	99315208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:99315208C>A	uc003uru.2	-	5	478	c.373G>T	c.(373-375)GAA>TAA	p.E125*	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A,	125					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CTCTTCCATTCTTCATCCTCA	0.393												
C7orf61	402573	broad.mit.edu	37	7	100054446	100054446	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:100054446C>T	uc003uuz.1	-	3	796	c.550G>A	c.(550-552)GTC>ATC	p.V184I		NM_001004323	NP_001004323	Q8IZ16	CG061_HUMAN	hypothetical protein LOC402573	184											0						TGGCATCGGACGTGGTGCCGT	0.647												
EPHB4	2050	broad.mit.edu	37	7	100404108	100404108	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:100404108G>A	uc003uwn.1	-	14	2909	c.2418C>T	c.(2416-2418)TAC>TAT	p.Y806Y	EPHB4_uc003uwm.1_Silent_p.Y713Y|EPHB4_uc010lhj.1_Silent_p.Y806Y	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	806	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCACAATCCCGTAACTCCAGG	0.552												
MUC17	140453	broad.mit.edu	37	7	100680308	100680308	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:100680308A>C	uc003uxp.1	+	3	5664	c.5611A>C	c.(5611-5613)AGT>CGT	p.S1871R	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1871	Extracellular (Potential).|Ser-rich.|29.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCATTAACAAGTATACCTGT	0.498												
MUC17	140453	broad.mit.edu	37	7	100680331	100680331	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:100680331A>G	uc003uxp.1	+	3	5687	c.5634A>G	c.(5632-5634)ACA>ACG	p.T1878T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1878	Extracellular (Potential).|Ser-rich.|29.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCACAACAGTGGCCAGTT	0.493												
MUC17	140453	broad.mit.edu	37	7	100683647	100683647	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:100683647G>A	uc003uxp.1	+	3	9003	c.8950G>A	c.(8950-8952)GAA>AAA	p.E2984K	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2984	Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGGCGAAAGAAGAAC	0.512												
MUC17	140453	broad.mit.edu	37	7	100686859	100686859	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:100686859G>A	uc003uxp.1	+	3	12215	c.12162G>A	c.(12160-12162)CCG>CCA	p.P4054P	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4054	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGCAGGCCGTCAACAATTA	0.532												
VGF	7425	broad.mit.edu	37	7	100806796	100806796	+	Missense_Mutation	SNP	G	G	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:100806796G>C	uc003uxx.3	-	2	1547	c.1329C>G	c.(1327-1329)GAC>GAG	p.D443E		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	443	Asp/Glu-rich (acidic).				response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					tctcctcgtcgtcctcctcct	0.483												
PIK3CG	5294	broad.mit.edu	37	7	106520077	106520077	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:106520077T>C	uc003vdv.3	+	6	2590	c.2505T>C	c.(2503-2505)GGT>GGC	p.G835G	PIK3CG_uc003vdu.2_Silent_p.G835G|PIK3CG_uc003vdw.2_Silent_p.G835G	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	835	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						TTAAACATGGTGATGATCTGC	0.328												
LRRN3	54674	broad.mit.edu	37	7	110763232	110763232	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:110763232G>T	uc003vft.3	+	4	1450	c.404G>T	c.(403-405)TGT>TTT	p.C135F	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.C135F|LRRN3_uc003vfs.3_Missense_Mutation_p.C135F	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	135	LRR 3.|Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CCTGAAAAATGTCTGTCCGAA	0.363												
LRRN3	54674	broad.mit.edu	37	7	110764173	110764173	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:110764173G>A	uc003vft.3	+	4	2391	c.1345G>A	c.(1345-1347)GAA>AAA	p.E449K	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.E449K|LRRN3_uc003vfs.3_Missense_Mutation_p.E449K	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	449	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGCTACTGCAGAACCACAGCC	0.428												
IFRD1	3475	broad.mit.edu	37	7	112095822	112095822	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:112095822C>T	uc003vgh.2	+	3	542	c.99C>T	c.(97-99)GGC>GGT	p.G33G	IFRD1_uc011kmn.1_5'UTR|IFRD1_uc003vgi.2_Silent_p.G33G|IFRD1_uc003vgj.2_Silent_p.G33G|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_5'UTR	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	33					multicellular organismal development|myoblast cell fate determination		binding			kidney(1)|central_nervous_system(1)	2						TAATAGGTGGCCAGCATCGAA	0.343												
CTTNBP2	83992	broad.mit.edu	37	7	117513419	117513419	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:117513419C>A	uc003vjf.2	-	1	143	c.51G>T	c.(49-51)GAG>GAT	p.E17D		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	17										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ccgccgcgtcctccggggccc	0.453												
CADPS2	93664	broad.mit.edu	37	7	122261693	122261693	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:122261693G>T	uc010lkp.2	-	5	1109	c.946C>A	c.(946-948)CTA>ATA	p.L316I	CADPS2_uc003vkg.3_Missense_Mutation_p.L16I|CADPS2_uc010lkq.2_Missense_Mutation_p.L316I	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	316					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						TTGGCCATTAGCAAATTCACT	0.318												
FSCN3	29999	broad.mit.edu	37	7	127235677	127235677	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:127235677G>A	uc003vmd.1	+	2	680	c.461G>A	c.(460-462)CGC>CAC	p.R154H	FSCN3_uc003vmc.1_Missense_Mutation_p.R109H|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.R20H|FSCN3_uc010llc.1_Missense_Mutation_p.R154H	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	154						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						CCCATCCACCGCTGCTATGCC	0.607												
CCDC136	64753	broad.mit.edu	37	7	128451976	128451976	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:128451976G>A	uc003vnv.1	+	13	2518	c.2151G>A	c.(2149-2151)CAG>CAA	p.Q717Q	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Silent_p.Q533Q|CCDC136_uc010llq.1_Silent_p.Q86Q|CCDC136_uc003vny.1_Silent_p.Q327Q	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	717	Potential.					integral to membrane	protein binding			ovary(2)	2						AGAGGCTGCAGGCAGACTTGC	0.557												
NRF1	4899	broad.mit.edu	37	7	129394886	129394886	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:129394886C>T	uc003voz.2	+	11	1494	c.1377C>T	c.(1375-1377)TAC>TAT	p.Y459Y	NRF1_uc003vpa.2_Silent_p.Y478Y|NRF1_uc011kpa.1_Silent_p.Y298Y|NRF1_uc003vpb.2_Silent_p.Y459Y	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	459	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						TGAGCATGTACCAGACTGTGG	0.622												
PLXNA4	91584	broad.mit.edu	37	7	131872350	131872350	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:131872350T>A	uc003vra.3	-	15	3102	c.2873A>T	c.(2872-2874)GAT>GTT	p.D958V		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	958	IPT/TIG 2.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GGGCTTCAGATCTGAGAGAGT	0.597												
BPGM	669	broad.mit.edu	37	7	134346262	134346262	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:134346262G>A	uc003vrv.2	+	3	544	c.3G>A	c.(1-3)ATG>ATA	p.M1I	BPGM_uc003vrw.2_Missense_Mutation_p.M1I|BPGM_uc003vrx.2_Missense_Mutation_p.M1I	NM_199186	NP_954655	P07738	PMGE_HUMAN	bisphosphoglycerate mutase	1					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity				0						CCATCAGTATGTCCAAGTACA	0.398												
KIAA1549	57670	broad.mit.edu	37	7	138603975	138603975	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:138603975C>T	uc011kql.1	-	2	446	c.397G>A	c.(397-399)GCA>ACA	p.A133T	KIAA1549_uc003vuk.3_Missense_Mutation_p.A83T|KIAA1549_uc011kqj.1_Missense_Mutation_p.A133T	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	133						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						CTGGGATCTGCTGTACTTTTG	0.498			O	BRAF	pilocytic astrocytoma							
JHDM1D	80853	broad.mit.edu	37	7	139791777	139791777	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:139791777A>C	uc003vvm.2	-	19	2562	c.2558T>G	c.(2557-2559)CTT>CGT	p.L853R	JHDM1D_uc010lng.2_RNA	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	853					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					TCCATTCTGAAGGCTTGAGCC	0.453												
SLC37A3	84255	broad.mit.edu	37	7	140051148	140051148	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:140051148G>A	uc003vvo.2	-	9	973	c.807C>T	c.(805-807)ATC>ATT	p.I269I	SLC37A3_uc003vvp.2_Silent_p.I269I|SLC37A3_uc010lnh.2_Silent_p.I269I|SLC37A3_uc011kqz.1_RNA|SLC37A3_uc011kra.1_3'UTR|SLC37A3_uc011krb.1_3'UTR	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	269					carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					TATCATCTTGGATTGAATAAT	0.438												
DENND2A	27147	broad.mit.edu	37	7	140269471	140269471	+	Missense_Mutation	SNP	T	T	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:140269471T>G	uc010lnj.2	-	5	1659	c.1514A>C	c.(1513-1515)CAG>CCG	p.Q505P	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.Q505P|DENND2A_uc003vvw.2_Missense_Mutation_p.Q505P|DENND2A_uc003vvx.2_Missense_Mutation_p.Q505P	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	505										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					CTCCATTGACTGGGACAGCCT	0.522												
EPHB6	2051	broad.mit.edu	37	7	142566348	142566348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:142566348C>T	uc011kst.1	+	15	2924	c.2137C>T	c.(2137-2139)CAG>TAG	p.Q713*	EPHB6_uc011ksu.1_Nonsense_Mutation_p.Q713*|EPHB6_uc003wbs.2_Nonsense_Mutation_p.Q421*|EPHB6_uc003wbt.2_Nonsense_Mutation_p.Q187*|EPHB6_uc003wbu.2_Nonsense_Mutation_p.Q421*|EPHB6_uc003wbv.2_Nonsense_Mutation_p.Q97*	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	713	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					CGAAAGCCTGCAGATGACCTT	0.687												
EPHA1	2041	broad.mit.edu	37	7	143097071	143097071	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:143097071G>A	uc003wcz.2	-	4	595	c.508C>T	c.(508-510)CGC>TGC	p.R170C		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	170	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGAGAGCAGCGCTCCACATTC	0.622												
CNTNAP2	26047	broad.mit.edu	37	7	147600793	147600793	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:147600793C>T	uc003weu.1	+	14	2751	c.2235C>T	c.(2233-2235)TGC>TGT	p.C745C		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	745	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTGTAACTGCGACGCGGACT	0.542										HNSCC(39;0.1)		
C7orf33	202865	broad.mit.edu	37	7	148311192	148311192	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:148311192C>A	uc003wew.2	+	2	624	c.263C>A	c.(262-264)GCT>GAT	p.A88D		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	hypothetical protein LOC202865	88										central_nervous_system(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CCTGTATCAGCTCCCACCAAA	0.502												
CUL1	8454	broad.mit.edu	37	7	148456394	148456394	+	Splice_Site	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:148456394A>G	uc010lpg.2	+	5	1010	c.484_splice	c.e5-2	p.L162_splice	CUL1_uc003wey.2_Splice_Site_p.L162_splice|CUL1_uc003wez.2_Splice_Site_p.L52_splice	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTTTTTCTCCAGCTTGCATTG	0.368												
SSPO	23145	broad.mit.edu	37	7	149475959	149475959	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:149475959A>G	uc010lpk.2	+	7	925	c.925A>G	c.(925-927)ATC>GTC	p.I309V	SSPO_uc010lpl.1_5'UTR	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	309	VWFD 1.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCCATCTCCATCTCTGTGGA	0.627												
SSPO	23145	broad.mit.edu	37	7	149495203	149495203	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:149495203G>A	uc010lpk.2	+	48	6951	c.6951G>A	c.(6949-6951)ACG>ACA	p.T2317T		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2317					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AATCCCCCACGTCCCCGACAG	0.652												
SSPO	23145	broad.mit.edu	37	7	149508800	149508800	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:149508800C>T	uc010lpk.2	+	68	9539	c.9539C>T	c.(9538-9540)GCG>GTG	p.A3180V		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3180					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCCTTGTGCGGAGGGTAAG	0.567												
NOS3	4846	broad.mit.edu	37	7	150711160	150711160	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:150711160G>A	uc003wif.2	+	27	3811	c.3515G>A	c.(3514-3516)CGC>CAC	p.R1172H	NOS3_uc011kuy.1_Missense_Mutation_p.R966H|ATG9B_uc003wig.3_Intron|ATG9B_uc011kvc.1_Intron	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	1172					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GTGACAAGCCGCATACGCACC	0.612												
ATG9B	285973	broad.mit.edu	37	7	150714284	150714284	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:150714284G>A	uc011kvc.1	-	9	2204	c.2128C>T	c.(2128-2130)CGG>TGG	p.R710W	ATG9B_uc003wig.3_RNA	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	ATG9 autophagy related 9 homolog B	710	Cytoplasmic (By similarity).				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				ovary(1)	1	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGAGAACCGCATCAAAGAA	0.617												
WDR86	349136	broad.mit.edu	37	7	151093060	151093060	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:151093060C>A	uc003wkb.2	-	3	977	c.528G>T	c.(526-528)AAG>AAT	p.K176N	WDR86_uc003wka.2_Missense_Mutation_p.K134N|WDR86_uc011kvk.1_Missense_Mutation_p.K176N|WDR86_uc003wkc.2_Missense_Mutation_p.K48N	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	WD repeat domain 86	176	WD 4.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGCCACACCTTGGCTGTGC	0.706												
MLL3	58508	broad.mit.edu	37	7	151874750	151874750	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:151874750C>T	uc003wla.2	-	38	8007	c.7788G>A	c.(7786-7788)CGG>CGA	p.R2596R	MLL3_uc003wkz.2_Silent_p.R1657R|MLL3_uc003wky.2_Silent_p.R105R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2596	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GAAAGTCTGGCCGGGGAATGA	0.562			N		medulloblastoma							
NCAPG2	54892	broad.mit.edu	37	7	158483354	158483354	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:158483354C>T	uc003wnv.1	-	5	588	c.443G>A	c.(442-444)TGT>TAT	p.C148Y	NCAPG2_uc010lqu.1_5'Flank|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.C148Y|NCAPG2_uc011kwe.1_Missense_Mutation_p.C148Y	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	148					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CCAGGTAACACACAAATCCTG	0.413												
SGK223	157285	broad.mit.edu	37	8	8176151	8176151	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:8176151T>C	uc003wsh.3	-	5	3734	c.3734A>G	c.(3733-3735)TAC>TGC	p.Y1245C		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	1245	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GAACTTGCGGTACTGGGAAGC	0.612												
SOX7	83595	broad.mit.edu	37	8	10583758	10583758	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:10583758G>T	uc003wtf.2	-	2	736	c.657C>A	c.(655-657)TTC>TTA	p.F219L	SOX7_uc011kwz.1_Missense_Mutation_p.F271L	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	219					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)		GGGAGGAGAAGAAGGTCTGCT	0.687												
DLC1	10395	broad.mit.edu	37	8	12957554	12957554	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:12957554G>T	uc003wwm.2	-	9	2736	c.2292C>A	c.(2290-2292)AGC>AGA	p.S764R	DLC1_uc003wwk.1_Missense_Mutation_p.S327R|DLC1_uc003wwl.1_Missense_Mutation_p.S361R|DLC1_uc011kxx.1_Missense_Mutation_p.S253R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	764					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						ACGCACTGAGGCTCCGGGTCC	0.572												
RHOBTB2	23221	broad.mit.edu	37	8	22864862	22864862	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:22864862C>T	uc003xcq.2	+	5	1641	c.1104C>T	c.(1102-1104)GAC>GAT	p.D368D	RHOBTB2_uc003xcp.2_Silent_p.D390D|RHOBTB2_uc011kzp.1_Silent_p.D375D|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	368	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCACCAGCGACGGGATCTTAC	0.637												
NEFM	4741	broad.mit.edu	37	8	24771698	24771698	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:24771698C>T	uc003xed.3	+	1	425	c.392C>T	c.(391-393)GCG>GTG	p.A131V	NEFM_uc011lac.1_Missense_Mutation_p.A131V|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	131	Rod.|Coil 1A.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GAGATTGAGGCGGAGATCCAG	0.642												
ELP3	55140	broad.mit.edu	37	8	27954825	27954825	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:27954825G>A	uc003xgo.3	+	2	257	c.109G>A	c.(109-111)GAT>AAT	p.D37N	ELP3_uc003xgn.3_Missense_Mutation_p.D22N|ELP3_uc011laq.1_Intron|ELP3_uc011lar.1_5'UTR|ELP3_uc011las.1_Intron|ELP3_uc011lat.1_5'UTR	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	37					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		GAAAGACATCGATCTAAATAA	0.398												
GSR	2936	broad.mit.edu	37	8	30550568	30550568	+	Missense_Mutation	SNP	A	A	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:30550568A>T	uc003xih.1	-	8	891	c.800T>A	c.(799-801)CTT>CAT	p.L267H		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	267					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	AAAACTTCTAAGTACCTGCAT	0.493												
TEX15	56154	broad.mit.edu	37	8	30694424	30694424	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:30694424G>A	uc003xil.2	-	3	8227	c.8227C>T	c.(8227-8229)CGG>TGG	p.R2743W		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2743										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTGGCTGCCGAAAATTAGAA	0.413												
IDO2	169355	broad.mit.edu	37	8	39872905	39872905	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:39872905T>C	uc010lwy.1	+	11	1289	c.1047T>C	c.(1045-1047)TGT>TGC	p.C349C	IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_Silent_p.C90C|IDO2_uc003xnp.1_Silent_p.C90C	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	indoleamine-pyrrole 2,3 dioxygenase-like 1	336					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			ovary(2)	2						ATAACCAGTGTGTGCAGGCCC	0.532												
MYST3	7994	broad.mit.edu	37	8	41800346	41800346	+	Missense_Mutation	SNP	C	C	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:41800346C>G	uc010lxb.2	-	15	2945	c.2401G>C	c.(2401-2403)GAG>CAG	p.E801Q	MYST3_uc010lxc.2_Missense_Mutation_p.E801Q|MYST3_uc003xon.3_Missense_Mutation_p.E801Q|MYST3_uc010lxd.2_Missense_Mutation_p.E801Q	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	801	Poly-Glu.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CACTGTGGCTCTTCGTTTTCT	0.418												
SLC20A2	6575	broad.mit.edu	37	8	42287757	42287757	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:42287757C>A	uc010lxl.2	-	9	2228	c.1534G>T	c.(1534-1536)GGT>TGT	p.G512C	SLC20A2_uc010lxm.2_Missense_Mutation_p.G512C|SLC20A2_uc003xpe.2_Missense_Mutation_p.G512C|SLC20A2_uc011lcu.1_Missense_Mutation_p.G314C	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	512	Extracellular (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACCAGGGGACCGATGGCATTA	0.398												
PRKDC	5591	broad.mit.edu	37	8	48766746	48766746	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:48766746T>A	uc003xqi.2	-	52	6848	c.6791A>T	c.(6790-6792)GAT>GTT	p.D2264V	PRKDC_uc003xqj.2_Missense_Mutation_p.D2264V|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2264					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGAATTAGGATCTTTACCGGA	0.408								NHEJ				
PRKDC	5591	broad.mit.edu	37	8	48801690	48801690	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:48801690C>T	uc003xqi.2	-	34	4222	c.4165G>A	c.(4165-4167)GTC>ATC	p.V1389I	PRKDC_uc003xqj.2_Missense_Mutation_p.V1389I|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1389					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATAACCTGGACGTCTCCGATG	0.468								NHEJ				
PRKDC	5591	broad.mit.edu	37	8	48849059	48849059	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:48849059C>T	uc003xqi.2	-	12	1189	c.1132G>A	c.(1132-1134)GCA>ACA	p.A378T	PRKDC_uc003xqj.2_Missense_Mutation_p.A378T|PRKDC_uc011ldh.1_Missense_Mutation_p.A378T	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	378					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACATCTTTTGCGTTTATAACC	0.408								NHEJ				
PXDNL	137902	broad.mit.edu	37	8	52321691	52321691	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:52321691C>T	uc003xqu.3	-	17	2594	c.2493G>A	c.(2491-2493)CCG>CCA	p.P831P	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	831					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGGAGCTGCACGGCCGCCCAT	0.667												
MRPL15	29088	broad.mit.edu	37	8	55049965	55049965	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:55049965G>T	uc003xsa.2	+	3	464	c.401G>T	c.(400-402)AGG>ATG	p.R134M		NM_014175	NP_054894	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15 precursor	134					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome				0		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			CCACTTAAAAGGGATTATGGT	0.363												
BHLHE22	27319	broad.mit.edu	37	8	65493461	65493461	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:65493461G>A	uc003xvi.2	+	1	648	c.114G>A	c.(112-114)ACG>ACA	p.T38T	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						TCCGCTCCACGCCCCCGGGCA	0.731												
ARFGEF1	10565	broad.mit.edu	37	8	68137212	68137212	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:68137212C>A	uc003xxo.1	-	29	4524	c.4134G>T	c.(4132-4134)TGG>TGT	p.W1378C	ARFGEF1_uc003xxl.1_Missense_Mutation_p.W832C|ARFGEF1_uc003xxn.1_Missense_Mutation_p.W361C	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1378					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATCCTCTCACCCACACCCTGT	0.368												
SLCO5A1	81796	broad.mit.edu	37	8	70585289	70585289	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:70585289C>T	uc003xyl.2	-	10	3069	c.2362G>A	c.(2362-2364)GAC>AAC	p.D788N	SLCO5A1_uc010lzb.2_Missense_Mutation_p.D733N|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	788	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CGGGCATTGTCGGGGTGTCCC	0.557												
NCOA2	10499	broad.mit.edu	37	8	71041044	71041044	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:71041044C>T	uc003xyn.1	-	17	3658	c.3496G>A	c.(3496-3498)GCC>ACC	p.A1166T	NCOA2_uc011lfb.1_Missense_Mutation_p.A254T	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1166					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CGGAGTGTGGCATAACTAGGC	0.547			T	RUNXBP2	AML							
CRISPLD1	83690	broad.mit.edu	37	8	75928931	75928931	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:75928931C>T	uc003yan.2	+	7	1234	c.859C>T	c.(859-861)CAG>TAG	p.Q287*	CRISPLD1_uc011lfk.1_Nonsense_Mutation_p.Q99*|CRISPLD1_uc011lfl.1_Nonsense_Mutation_p.Q99*	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	287						extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CATAAGCGCACAGCAAATGTG	0.338												
SLC10A5	347051	broad.mit.edu	37	8	82605999	82605999	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:82605999T>C	uc011lfs.1	-	1	1209	c.1209A>G	c.(1207-1209)GTA>GTG	p.V403V		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	solute carrier family 10 (sodium/bile acid	403	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity				0						AACACATGGCTACTGTAAAAG	0.363												
INTS8	55656	broad.mit.edu	37	8	95848830	95848830	+	Missense_Mutation	SNP	T	T	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:95848830T>A	uc003yhb.2	+	7	958	c.832T>A	c.(832-834)TTT>ATT	p.F278I	INTS8_uc003yha.1_Missense_Mutation_p.F278I|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.F105I	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	278	TPR 1.				snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					CAGGGAAAAATTTTTTAGAAC	0.348												
C8orf38	137682	broad.mit.edu	37	8	96047736	96047736	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:96047736A>G	uc003yhj.2	+	3	368	c.352A>G	c.(352-354)AAA>GAA	p.K118E	C8orf38_uc003yhe.1_RNA|C8orf38_uc003yhf.2_Missense_Mutation_p.K26E|C8orf38_uc011lgs.1_RNA|C8orf38_uc003yhi.2_Missense_Mutation_p.K66E|C8orf38_uc003yhk.2_RNA|C8orf38_uc003yhl.2_Missense_Mutation_p.K26E	NM_152416	NP_689629	Q330K2	CH038_HUMAN	hypothetical protein LOC137682 precursor	118					biosynthetic process	mitochondrion	transferase activity				0	Breast(36;3.32e-06)					GCAGTTTTGGAAAAAAACTGT	0.348												
MTDH	92140	broad.mit.edu	37	8	98699693	98699693	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:98699693G>A	uc003yhz.2	+	4	933	c.605G>A	c.(604-606)CGA>CAA	p.R202Q		NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	202	Cytoplasmic (Potential).|Interaction with RELA.				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AGAGAGAAACGACAGCAGCGT	0.408												
POP1	10940	broad.mit.edu	37	8	99168419	99168419	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:99168419T>C	uc003yij.3	+	15	2299	c.2199T>C	c.(2197-2199)GGT>GGC	p.G733G	POP1_uc011lgv.1_Silent_p.G733G|POP1_uc003yik.2_Silent_p.G733G	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	733					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTCCAAATGGTAAGGAGAGTG	0.498												
UBR5	51366	broad.mit.edu	37	8	103311747	103311747	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:103311747G>A	uc003ykr.1	-	24	3168	c.3135C>T	c.(3133-3135)CCC>CCT	p.P1045P	UBR5_uc003yks.1_Silent_p.P1045P	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1045					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATCCCACAGCGGGGGCCAGGA	0.443												
UBR5	51366	broad.mit.edu	37	8	103359305	103359305	+	Silent	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:103359305A>G	uc003ykr.1	-	6	435	c.402T>C	c.(400-402)TCT>TCC	p.S134S	UBR5_uc003yks.1_Silent_p.S134S	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	134				S -> P (in Ref. 2; AAF88143).	cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CACCCACTCCAGAACTCCAGC	0.438												
RIMS2	9699	broad.mit.edu	37	8	105261792	105261792	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:105261792A>C	uc003yls.2	+	26	3962	c.3721A>C	c.(3721-3723)AAA>CAA	p.K1241Q	RIMS2_uc003ylp.2_Missense_Mutation_p.K1223Q|RIMS2_uc003ylw.2_Missense_Mutation_p.K1230Q|RIMS2_uc003ylq.2_Missense_Mutation_p.K1037Q|RIMS2_uc003ylr.2_Missense_Mutation_p.K1062Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1285	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTTGTTGTAAAACCAGGTTC	0.398										HNSCC(12;0.0054)		
TM7SF4	81501	broad.mit.edu	37	8	105361753	105361753	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:105361753A>G	uc003ylx.1	+	2	1022	c.973A>G	c.(973-975)AGC>GGC	p.S325G		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	325					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTTCTCAGTGAGCAAGCAGTT	0.438												
LRP12	29967	broad.mit.edu	37	8	105503494	105503494	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:105503494C>A	uc003yma.2	-	7	2082	c.1987G>T	c.(1987-1989)GAT>TAT	p.D663Y	LRP12_uc003ymb.2_Missense_Mutation_p.D644Y|LRP12_uc003ylz.2_Missense_Mutation_p.D69Y	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	663	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGCCATATCTCTTCTCTCA	0.483												
SYBU	55638	broad.mit.edu	37	8	110590244	110590244	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:110590244C>T	uc003ynj.3	-	6	900	c.737G>A	c.(736-738)CGT>CAT	p.R246H	SYBU_uc003yni.3_Missense_Mutation_p.R243H|SYBU_uc003ynk.3_Missense_Mutation_p.R127H|SYBU_uc010mco.2_Missense_Mutation_p.R245H|SYBU_uc003ynl.3_Missense_Mutation_p.R245H|SYBU_uc010mcp.2_Missense_Mutation_p.R246H|SYBU_uc010mcq.2_Missense_Mutation_p.R246H|SYBU_uc003yno.3_Missense_Mutation_p.R127H|SYBU_uc010mcr.2_Missense_Mutation_p.R246H|SYBU_uc003ynm.3_Missense_Mutation_p.R245H|SYBU_uc003ynn.3_Missense_Mutation_p.R245H|SYBU_uc010mcs.2_Missense_Mutation_p.R127H|SYBU_uc010mct.2_Missense_Mutation_p.R246H|SYBU_uc010mcu.2_Missense_Mutation_p.R245H|SYBU_uc003ynp.3_Missense_Mutation_p.R178H|SYBU_uc010mcv.2_Missense_Mutation_p.R246H|SYBU_uc003ynh.3_Missense_Mutation_p.R40H|SYBU_uc011lhw.1_Missense_Mutation_p.R116H	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	246	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						CCTTCCAGAACGCCTGAAACA	0.373												
WDR67	93594	broad.mit.edu	37	8	124121715	124121715	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:124121715A>C	uc003ypp.1	+	10	1381	c.1291A>C	c.(1291-1293)ATG>CTG	p.M431L	WDR67_uc011lig.1_Missense_Mutation_p.M431L|WDR67_uc011lih.1_Missense_Mutation_p.M321L|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.M144L	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	431	Rab-GAP TBC.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TTATTTCAGAATGTTCATTTG	0.343												
COL22A1	169044	broad.mit.edu	37	8	139606333	139606333	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:139606333G>A	uc003yvd.2	-	63	4989	c.4542C>T	c.(4540-4542)GCC>GCT	p.A1514A	COL22A1_uc011ljo.1_Silent_p.A794A	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1514	Pro-rich.|Gly-rich.|Collagen-like 15.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCATGGGGCCGGCCCGGCCTG	0.657										HNSCC(7;0.00092)		
TRAPPC9	83696	broad.mit.edu	37	8	141262910	141262910	+	Silent	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:141262910G>T	uc003yvj.2	-	16	2531	c.2397C>A	c.(2395-2397)TCC>TCA	p.S799S	TRAPPC9_uc003yvh.2_Silent_p.S897S|TRAPPC9_uc010mel.1_Silent_p.S220S|TRAPPC9_uc003yvi.1_Silent_p.S790S	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	799					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						TCTCCTGGCAGGAGAAATCCA	0.502												
DENND3	22898	broad.mit.edu	37	8	142178528	142178528	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:142178528C>T	uc003yvy.2	+	13	2217	c.1939C>T	c.(1939-1941)CAC>TAC	p.H647Y	DENND3_uc010mep.2_Missense_Mutation_p.H608Y|DENND3_uc003yvz.1_Missense_Mutation_p.H331Y	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	647										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCAAGAAGCACATGCAGCT	0.592												
GPIHBP1	338328	broad.mit.edu	37	8	144297001	144297001	+	Missense_Mutation	SNP	G	G	A	rs147455726		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:144297001G>A	uc003yxu.1	+	3	370	c.295G>A	c.(295-297)GAG>AAG	p.E99K		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high	99	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity				0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CGGGAACACCGGTAAGTGGGC	0.672												
ZFP41	286128	broad.mit.edu	37	8	144331928	144331928	+	Translation_Start_Site	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:144331928G>A	uc003yxw.2	+	2	273	c.-85G>A	c.(-87--83)AGGTG>AGATG		ZFP41_uc003yxv.2_RNA	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	zinc finger protein 41 homolog						cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GTGTGGAGAGGTGCGTGGGAA	0.577												
TSTA3	7264	broad.mit.edu	37	8	144696548	144696548	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:144696548G>T	uc003yza.2	-	6	576	c.540C>A	c.(538-540)TTC>TTA	p.F180L	TSTA3_uc003yzb.2_Missense_Mutation_p.F180L	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	180					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CCTCGATGTTGAAGTTGTCGT	0.652												
GPR172A	79581	broad.mit.edu	37	8	145584371	145584371	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:145584371G>A	uc003zcc.1	+	4	1280	c.1123G>A	c.(1123-1125)GTG>ATG	p.V375M	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.V375M|GPR172A_uc003zce.1_Missense_Mutation_p.V375M|GPR172A_uc010mfy.1_Missense_Mutation_p.V375M|GPR172A_uc003zcf.1_Missense_Mutation_p.V375M|GPR172A_uc011llc.1_Missense_Mutation_p.V287M	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	375	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GGTGGTCCTCGTGGTGAGCAC	0.692												
RECQL4	9401	broad.mit.edu	37	8	145737698	145737698	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:145737698C>T	uc003zdj.2	-	19	3097	c.3065G>A	c.(3064-3066)CGT>CAT	p.R1022H		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	1022					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCCTGTCCCACGCCGCACACC	0.647			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			
PTPRD	5789	broad.mit.edu	37	9	8499822	8499822	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:8499822C>T	uc003zkk.2	-	24	2858	c.2147G>A	c.(2146-2148)CGC>CAC	p.R716H	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.R716H|PTPRD_uc003zkm.2_Missense_Mutation_p.R703H|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	716	Fibronectin type-III 5.|Extracellular (Potential).				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)		CTCGACTTTGCGAGGAGGACC	0.448										TSP Lung(15;0.13)		
NOL6	65083	broad.mit.edu	37	9	33463912	33463912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:33463912G>A	uc003zsz.2	-	23	3012	c.2911C>T	c.(2911-2913)CAG>TAG	p.Q971*	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Nonsense_Mutation_p.Q25*|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Nonsense_Mutation_p.Q968*|NOL6_uc011lob.1_Nonsense_Mutation_p.Q919*|NOL6_uc003ztb.1_Nonsense_Mutation_p.Q971*	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	971					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACAAGCTGCTGCAGGATCTGC	0.567												
NOL6	65083	broad.mit.edu	37	9	33464952	33464952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:33464952G>A	uc003zsz.2	-	21	2805	c.2704C>T	c.(2704-2706)CGA>TGA	p.R902*	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'UTR|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Nonsense_Mutation_p.R899*|NOL6_uc011lob.1_Nonsense_Mutation_p.R850*|NOL6_uc003ztb.1_Nonsense_Mutation_p.R902*	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	902					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AAAAGGAATCGAAGGAAGCCA	0.502												
KIAA1161	57462	broad.mit.edu	37	9	34371859	34371859	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:34371859G>A	uc003zue.3	-	3	1250	c.1083C>T	c.(1081-1083)GGC>GGT	p.G361G		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	361	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AGTCGAAGTCGCCATAAGCAG	0.592												
TLN1	7094	broad.mit.edu	37	9	35713239	35713239	+	Silent	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:35713239G>A	uc003zxt.2	-	26	3660	c.3306C>T	c.(3304-3306)ATC>ATT	p.I1102I		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1102					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTAGCTGGGCGATGGCTGAGC	0.542												
NPR2	4882	broad.mit.edu	37	9	35806228	35806228	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:35806228C>T	uc003zyd.2	+	15	2370	c.2370C>T	c.(2368-2370)AAC>AAT	p.N790N	NPR2_uc010mlb.2_Silent_p.N766N	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	790	Cytoplasmic (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GGCGCTTTAACAAGTGAGAGG	0.537												
FRMPD1	22844	broad.mit.edu	37	9	37746497	37746497	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:37746497G>A	uc004aag.1	+	16	4512	c.4468G>A	c.(4468-4470)GTG>ATG	p.V1490M	FRMPD1_uc004aah.1_Missense_Mutation_p.V1490M	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1490						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		GCAGGGGGCCGTGCGTGACAC	0.652												
ZNF658	26149	broad.mit.edu	37	9	40775010	40775010	+	Missense_Mutation	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:40775010C>A	uc004abs.2	-	5	417	c.265G>T	c.(265-267)GGG>TGG	p.G89W	ZNF658_uc010mmm.1_Missense_Mutation_p.G89W|ZNF658_uc010mmn.1_Missense_Mutation_p.G89W	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCCCGGATCCCTTTGATGTGA	0.308												
VPS13A	23230	broad.mit.edu	37	9	79897181	79897181	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:79897181A>G	uc004akr.2	+	29	3369	c.3109A>G	c.(3109-3111)AAA>GAA	p.K1037E	VPS13A_uc004akp.3_Missense_Mutation_p.K1037E|VPS13A_uc004akq.3_Missense_Mutation_p.K1037E|VPS13A_uc004aks.2_Missense_Mutation_p.K1037E	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	1037					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						AGATGTCATTAAAAAATTAGG	0.299												
AUH	549	broad.mit.edu	37	9	93983209	93983209	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:93983209G>A	uc004arf.3	-	7	756	c.721C>T	c.(721-723)CGA>TGA	p.R241*	AUH_uc004arg.3_Nonsense_Mutation_p.R212*	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	241					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0						TCGAGGACTCGCGCAGAGAAT	0.557												
COL15A1	1306	broad.mit.edu	37	9	101829222	101829222	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:101829222G>A	uc004azb.1	+	40	3916	c.3710G>A	c.(3709-3711)TGC>TAC	p.C1237Y		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1237	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				GATTTTCAGTGCTTCAAGCAG	0.473												
FKTN	2218	broad.mit.edu	37	9	108397407	108397407	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:108397407C>T	uc004bcr.2	+	11	1464	c.1248C>T	c.(1246-1248)CTC>CTT	p.L416L	FKTN_uc011lvx.1_Silent_p.L416L|FKTN_uc004bcs.2_Silent_p.L416L|FKTN_uc011lvy.1_3'UTR|FKTN_uc010mtm.2_Silent_p.L284L	NM_001079802	NP_001073270	O75072	FKTN_HUMAN	fukutin	416	Lumenal (Potential).				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(2)|ovary(1)	3						GTGAAACCCTCGAATACATTG	0.483												
ZNF483	158399	broad.mit.edu	37	9	114303976	114303976	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:114303976G>T	uc004bff.2	+	6	985	c.761G>T	c.(760-762)AGG>ATG	p.R254M	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	254					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						AGGTGCCTCAGGGATGATGAT	0.383												
KIAA1958	158405	broad.mit.edu	37	9	115421888	115421888	+	Missense_Mutation	SNP	A	A	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:115421888A>C	uc004bgf.1	+	4	1865	c.1690A>C	c.(1690-1692)AGC>CGC	p.S564R	KIAA1958_uc011lwx.1_Missense_Mutation_p.S592R	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	564										skin(1)	1						CAAGTACAACAGCCAGTACCT	0.562												
ZNF618	114991	broad.mit.edu	37	9	116811701	116811701	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:116811701C>T	uc004bid.2	+	15	2218	c.2119C>T	c.(2119-2121)CGC>TGC	p.R707C	ZNF618_uc004bic.2_Missense_Mutation_p.R614C|ZNF618_uc011lxi.1_Missense_Mutation_p.R674C|ZNF618_uc011lxj.1_Missense_Mutation_p.R675C|ZNF618_uc010mvb.2_Missense_Mutation_p.R297C	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTGCATGAGCGCTATGAGCA	0.607												
CRB2	286204	broad.mit.edu	37	9	126136078	126136078	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:126136078C>T	uc004bnx.1	+	10	3360	c.3268C>T	c.(3268-3270)CGC>TGC	p.R1090C	CRB2_uc004bnw.1_Missense_Mutation_p.R1090C	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	1090	Extracellular (Potential).|EGF-like 12.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GGAAGGCCCGCGCTGCGAAGC	0.756												
RABEPK	10244	broad.mit.edu	37	9	127995981	127995981	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:127995981A>G	uc004bpi.2	+	9	1014	c.841A>G	c.(841-843)ACC>GCC	p.T281A	RABEPK_uc004bpj.2_Missense_Mutation_p.T230A|RABEPK_uc004bpk.2_Missense_Mutation_p.T281A|RABEPK_uc004bpl.1_3'UTR|RABEPK_uc004bpm.2_Missense_Mutation_p.T281A	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	281	Kelch 5.				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						GCAGCATTGGACCTTGCTTAA	0.348												
MAPKAP1	79109	broad.mit.edu	37	9	128322031	128322031	+	Silent	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:128322031G>T	uc004bpv.2	-	6	1062	c.729C>A	c.(727-729)ACC>ACA	p.T243T	MAPKAP1_uc011lzt.1_Silent_p.T46T|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Silent_p.T46T|MAPKAP1_uc011lzv.1_Intron|MAPKAP1_uc004bpw.2_Silent_p.T51T|MAPKAP1_uc004bpx.2_Silent_p.T51T|MAPKAP1_uc004bpy.2_Silent_p.T243T|MAPKAP1_uc004bpz.2_Silent_p.T243T|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Silent_p.T46T|MAPKAP1_uc004bqa.2_Silent_p.T243T|MAPKAP1_uc010mxc.1_Silent_p.T115T	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated	243					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			ovary(2)|lung(2)	4						GGGGGAAATCGGTGTCCACCT	0.488												
GOLGA2	2801	broad.mit.edu	37	9	131036199	131036199	+	Missense_Mutation	SNP	T	T	C	rs142168936		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:131036199T>C	uc011maw.1	-	2	150	c.137A>G	c.(136-138)AAG>AGG	p.K46R	GOLGA2_uc010mxw.2_Missense_Mutation_p.K34R|GOLGA2_uc004bul.1_5'UTR|C9orf119_uc010mxx.1_5'Flank|C9orf119_uc004bup.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	46	Poly-Lys.|Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						TTTCTTCTTCTTTTTCGCTCC	0.428												
CERCAM	51148	broad.mit.edu	37	9	131185155	131185155	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:131185155C>T	uc004buz.3	+	2	604	c.206C>T	c.(205-207)ACG>ATG	p.T69M	CERCAM_uc004buy.1_Translation_Start_Site|CERCAM_uc010mxz.2_Translation_Start_Site|CERCAM_uc010mya.1_5'Flank	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	69					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						AGGTGTGCCACGGACCACAAT	0.602												
TBC1D13	54662	broad.mit.edu	37	9	131568256	131568256	+	Missense_Mutation	SNP	A	A	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:131568256A>G	uc010myj.2	+	10	1160	c.1037A>G	c.(1036-1038)AAC>AGC	p.N346S	TBC1D13_uc010myk.2_Missense_Mutation_p.N221S|TBC1D13_uc010myl.2_Missense_Mutation_p.N165S	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	346						intracellular	Rab GTPase activator activity				0						GCCGATGACAACCGCTTTGAC	0.592												
BAT2L1	84726	broad.mit.edu	37	9	134360135	134360135	+	Silent	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:134360135T>C	uc004can.3	+	23	5578	c.5523T>C	c.(5521-5523)GGT>GGC	p.G1841G	BAT2L1_uc004cao.3_Silent_p.G1198G|BAT2L1_uc004cap.3_5'Flank|SNORD62A_uc004caq.2_5'Flank	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1841							protein binding				0						GGGCCATCGGTCTCTCCCCAA	0.572												
GTF3C4	9329	broad.mit.edu	37	9	135553481	135553481	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:135553481C>T	uc010mzv.2	+	2	733	c.475C>T	c.(475-477)CCA>TCA	p.P159S	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	159					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GAAGGCTTTACCACCAATGAG	0.542												
RPL7A	6130	broad.mit.edu	37	9	136217870	136217870	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:136217870G>A	uc004cde.1	+	7	670	c.640G>A	c.(640-642)GCT>ACT	p.A214T	MED22_uc004cdc.2_5'Flank|MED22_uc004cdd.2_5'Flank|RPL7A_uc004cdf.1_Missense_Mutation_p.A38T	NM_000972	NP_000963	P62424	RL7A_HUMAN	ribosomal protein L7a	214					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		AGACAAAGGCGCTTTGGCTAA	0.413												
ADAMTS13	11093	broad.mit.edu	37	9	136324225	136324225	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:136324225G>A	uc004cdv.3	+	29	4651	c.4207G>A	c.(4207-4209)GGC>AGC	p.G1403S	ADAMTS13_uc004cdp.3_3'UTR|ADAMTS13_uc004cdt.1_Missense_Mutation_p.G1347S|ADAMTS13_uc004cdu.1_Missense_Mutation_p.G1316S|ADAMTS13_uc004cdw.3_Missense_Mutation_p.G1347S|ADAMTS13_uc004cdx.3_Missense_Mutation_p.G1316S|ADAMTS13_uc004cdz.3_Missense_Mutation_p.G1073S|ADAMTS13_uc004ceb.3_Missense_Mutation_p.G199S|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1403	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CAGCCTGCGGGGCCAGTACTG	0.587												
VAV2	7410	broad.mit.edu	37	9	136677299	136677299	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:136677299C>T	uc004ces.2	-	5	535	c.489G>A	c.(487-489)CCG>CCA	p.P163P	VAV2_uc004cer.2_Silent_p.P163P	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	163					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CATCCTCACACGGGACGCAGT	0.672												
C9orf86	55684	broad.mit.edu	37	9	139726193	139726193	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:139726193G>A	uc004cji.1	+	6	747	c.479G>A	c.(478-480)CGG>CAG	p.R160Q	C9orf86_uc004cjm.2_Missense_Mutation_p.R160Q|C9orf86_uc004cjh.2_Missense_Mutation_p.R160Q|C9orf86_uc004cjj.1_Missense_Mutation_p.R160Q|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.R160Q|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.R45Q	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	160	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		TACATTCTCCGGGAGCTTCCA	0.617												
P2RY8	286530	broad.mit.edu	37	X	1584732	1584732	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:1584732C>T	uc004cpz.2	-	2	968	c.720G>A	c.(718-720)GCG>GCA	p.A240A		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	240	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAAGACCACCGCGGCCAGGC	0.657			T	CRLF2	B-ALL|Downs associated ALL							
ZBED1	9189	broad.mit.edu	37	X	2408192	2408192	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:2408192T>C	uc004cqg.2	-	2	770	c.569A>G	c.(568-570)GAG>GGG	p.E190G	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.E190G	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	190						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGGTGGCCTCGGCCAGCTC	0.657												
WWC3	55841	broad.mit.edu	37	X	10096130	10096130	+	Missense_Mutation	SNP	C	C	T	rs138880852		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:10096130C>T	uc004csx.3	+	16	2407	c.2209C>T	c.(2209-2211)CGG>TGG	p.R737W	WWC3_uc010nds.2_Missense_Mutation_p.R401W|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	737										ovary(4)	4						ATCAAGGACGCGGGAGGCTGG	0.582												
CLCN4	1183	broad.mit.edu	37	X	10182015	10182015	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:10182015C>T	uc004csy.3	+	11	2301	c.1871C>T	c.(1870-1872)ACG>ATG	p.T624M	CLCN4_uc011mid.1_Missense_Mutation_p.T530M	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	624	CBS 1.|Cytoplasmic (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						GACGTGGAGACGCTCATCAAG	0.632												
ACE2	59272	broad.mit.edu	37	X	15589815	15589815	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:15589815G>A	uc004cxa.1	-	13	1937	c.1769C>T	c.(1768-1770)CCC>CTC	p.P590L	ACE2_uc004cxb.2_Missense_Mutation_p.P590L	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	590	Extracellular (Potential).				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)	GGTAAATAAGGGCTCAAAGTA	0.458												
YY2	404281	broad.mit.edu	37	X	21874825	21874825	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:21874825G>A	uc011mjp.1	+	1	223	c.223G>A	c.(223-225)GAC>AAC	p.D75N	MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.D293N|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	75	Mediates transcriptional activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2						TGGCGACCACGACCAGGAAAT	0.557												
SYTL5	94122	broad.mit.edu	37	X	37984696	37984696	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:37984696T>C	uc004ddu.2	+	17	2521	c.1987T>C	c.(1987-1989)TGG>CGG	p.W663R	SYTL5_uc004ddv.2_Missense_Mutation_p.W663R|SYTL5_uc004ddx.2_Missense_Mutation_p.W685R	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 1	663	C2 2.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			skin(1)	1						ACTTACTATCTGGGACAAGGA	0.453												
FGD1	2245	broad.mit.edu	37	X	54472656	54472656	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:54472656C>T	uc004dtg.2	-	18	3506	c.2772G>A	c.(2770-2772)ACG>ACA	p.T924T		NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	924					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CCGGGCAGAACGTGTCCCCTC	0.652												
PCDH19	57526	broad.mit.edu	37	X	99657662	99657662	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:99657662G>A	uc010nmz.2	-	3	4152	c.2476C>T	c.(2476-2478)CGC>TGC	p.R826C	PCDH19_uc004efw.3_Missense_Mutation_p.R779C|PCDH19_uc004efx.3_Missense_Mutation_p.R779C	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	826	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						TCAGAGCGGCGGCAGCCCAGG	0.547												
MUM1L1	139221	broad.mit.edu	37	X	105450793	105450793	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:105450793C>T	uc004emf.1	+	4	2017	c.1368C>T	c.(1366-1368)GAC>GAT	p.D456D	MUM1L1_uc004emg.1_Silent_p.D456D	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	456										ovary(2)|pancreas(1)|skin(1)	4						TGCTAGTGGACAAAGCCAGGG	0.363												
ZCCHC16	340595	broad.mit.edu	37	X	111698712	111698712	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:111698712C>T	uc004epo.1	+	3	1197	c.756C>T	c.(754-756)CCC>CCT	p.P252P		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	252							nucleic acid binding|zinc ion binding			ovary(1)	1						ATCCACCACCCAAGAAAGGGC	0.562												
HTR2C	3358	broad.mit.edu	37	X	113965833	113965833	+	Missense_Mutation	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:113965833C>T	uc004epu.1	+	4	894	c.166C>T	c.(166-168)CCA>TCA	p.P56S	HTR2C_uc010nqc.1_Missense_Mutation_p.P56S|HTR2C_uc004epv.1_Missense_Mutation_p.P56S	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	56	Helical; Name=1; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACAAAACTGGCCAGCACTTTC	0.433												
BCORL1	63035	broad.mit.edu	37	X	129189948	129189948	+	Missense_Mutation	SNP	G	G	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:129189948G>T	uc004evb.1	+	13	5087	c.4973G>T	c.(4972-4974)AGG>ATG	p.R1658M	BCORL1_uc004evc.1_Missense_Mutation_p.R494M	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1658					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GAGTTCTACAGGCAGGTGGCC	0.602												
MAMLD1	10046	broad.mit.edu	37	X	149639606	149639606	+	Silent	SNP	C	C	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:149639606C>A	uc004fee.1	+	3	1837	c.1761C>A	c.(1759-1761)TCC>TCA	p.S587S	MAMLD1_uc011mxt.1_Silent_p.S549S|MAMLD1_uc011mxu.1_Silent_p.S562S|MAMLD1_uc011mxv.1_Silent_p.S562S|MAMLD1_uc011mxw.1_Silent_p.S514S	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	587					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTGCCTCCTCCACGGCCA	0.488												
GABRE	2564	broad.mit.edu	37	X	151128320	151128320	+	Missense_Mutation	SNP	T	T	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:151128320T>C	uc004ffi.2	-	6	829	c.775A>G	c.(775-777)ACC>GCC	p.T259A	GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA|MIR224_hsa-mir-224|MI0000301_5'Flank|MIR452_hsa-mir-452|MI0001733_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	259	Helical; (Potential).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					CCAACTGGGGTTGTGATTATT	0.463												
IRAK1	3654	broad.mit.edu	37	X	153278091	153278091	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:153278091G>A	uc004fjs.1	-	13	2048	c.1969C>T	c.(1969-1971)CCA>TCA	p.P657S	IRAK1_uc004fjr.1_Missense_Mutation_p.P627S|IRAK1_uc004fjt.1_Missense_Mutation_p.P578S|IRAK1_uc010nur.2_Intron	NM_001569	NP_001560	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	657					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCTGCGGTGGCTCTGACGAC	0.627												
ATP6AP1	537	broad.mit.edu	37	X	153663736	153663736	+	Missense_Mutation	SNP	G	G	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:153663736G>A	uc004flf.1	+	9	1149	c.1088G>A	c.(1087-1089)GGG>GAG	p.G363E	ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Missense_Mutation_p.G323E|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	363					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(3)|breast(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CAGGTCACAGGGCCCAGCATC	0.607												
DKC1	1736	broad.mit.edu	37	X	153995617	153995617	+	Silent	SNP	C	C	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:153995617C>T	uc004fmm.2	+	7	810	c.600C>T	c.(598-600)TAC>TAT	p.Y200Y	DKC1_uc010nvf.2_Silent_p.Y200Y|SNORA36A_uc004fmn.2_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	dyskerin isoform 1	200					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGACCATCTACGAGAGCAAAA	0.453									Congenital_Dyskeratosis			
RABEP1	9135	broad.mit.edu	37	17	5284683	5284683	+	Splice_Site	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:5284683delG	uc002gbm.3	+	17	2595	c.2371_splice	c.e17-1	p.A791_splice	RABEP1_uc010vsw.1_Splice_Site_p.A748_splice|RABEP1_uc002gbl.3_Splice_Site_p.A758_splice|NUP88_uc002gbn.2_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1						apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						GTATTTTTTAGGCTACCGTTG	0.383												
RERE	473	broad.mit.edu	37	1	8674748	8674748	+	Splice_Site	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:8674747_8674747TA>T	uc001ape.3	-	5	1207	c.397_splice	c.e5-1	p.V133_splice	RERE_uc001apf.3_Splice_Site_p.V133_splice|RERE_uc001aph.1_Splice_Site_p.V133_splice	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	133	BAH.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTGTGGACCTAAAAAAGAAA	0.512												
AKNAD1	254268	broad.mit.edu	37	1	109369927	109369927	+	Splice_Site	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378												
PREPL	9581	broad.mit.edu	37	2	44550553	44550553	+	Splice_Site	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333												
TTK	7272	broad.mit.edu	37	6	80750419	80750422	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:80750418_80750421AAAGT>A	uc003pjc.3	+	21	2601	c.2490_splice	c.e21+1	p.K830_splice	TTK_uc003pjb.4_Splice_Site_p.K829_splice	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	830					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GAAAGCTGCTAAAGTAAGTATGTC	0.348												
KIAA1324L	222223	broad.mit.edu	37	7	86542523	86542523	+	Splice_Site	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:86542522_86542522TA>T	uc011kha.2	-	14	1917	c.1732_splice	c.e14-1	p.N578_splice	KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	578						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCGTCTATTCTAAAAAAAAGA	0.413												
NPAT	4863	broad.mit.edu	37	11	108042927	108042928	+	Splice_Site	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:108042926_108042927C>CT	uc001pjz.4	-	13	2887	c.2785_splice	c.e13+1	p.G929_splice	NPAT_uc010rvv.2_5'Flank|NPAT_uc001pka.3_Frame_Shift_Ins_p.Q723fs	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	929					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTAAAGTTACCTTGTGAAAAGT	0.376												
ARHGAP9	64333	broad.mit.edu	37	12	57872323	57872324	+	Splice_Site	DEL	TG	TG	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:57872322_57872323CTG>C	uc001sod.3	-	6	940	c.747_splice	c.e6+1	p.T249_splice	ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Splice_Site_p.T178_splice|ARHGAP9_uc001soc.3_Splice_Site_p.T178_splice|ARHGAP9_uc001soe.1_Splice_Site_p.T257_splice|ARHGAP9_uc010sro.1_Splice_Site_p.T178_splice	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	178					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CTGTGACTCACTGTGCTGGCAC	0.559												
CCDC41	51134	broad.mit.edu	37	12	94725477	94725478	+	Splice_Site	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:94725476_94725477C>CT	uc001tdd.3	-	14	2293	c.1707_splice	c.e14+1	p.K569_splice	CCDC41_uc001tde.3_Splice_Site_p.K569_splice|CCDC41_uc009zsw.1_Splice_Site	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	561										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						AACCACTTGCCTTTTTCTGGGC	0.485												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013285	+	Splice_Site	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGG	0.294												
ZNF333	84449	broad.mit.edu	37	19	14815865	14815865	+	Splice_Site	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:14815864_14815864AG>A	uc002mzn.3	+	6	441	c.307_splice	c.e6-2	p.G103_splice	ZNF333_uc010dzq.2_Splice_Site_p.G103_splice|ZNF333_uc002mzk.4_Splice_Site|ZNF333_uc002mzl.3_Splice_Site_p.G103_splice|ZNF333_uc010dzr.1_Splice_Site	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GTCTTTTGCCAGGGGCCGGGG	0.602												
BCKDHA	593	broad.mit.edu	37	19	41916544	41916544	+	Splice_Site	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:41916543_41916543AC>A	uc002oqq.3	+	2	148	c.109_splice	c.e2-1	p.H37_splice	BCKDHA_uc002oqm.4_Splice_Site_p.H71_splice|BCKDHA_uc002oqp.2_Splice_Site|BCKDHA_uc002oqr.3_Splice_Site_p.H37_splice|BCKDHA_uc010xvz.2_Intron	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	37					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CTTCCCCAGCACCCCCCCAGG	0.612												
EPHA10	284656	broad.mit.edu	37	1	38185238	38185238	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:38185238delG	uc009vvi.2	-	15	2690	c.2604delC	c.(2602-2604)CCCfs	p.P868fs	EPHA10_uc001cbt.2_RNA|EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	868	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACAGTTCCTGGGGGGTGGCA	0.617												
ZNF687	57592	broad.mit.edu	37	1	151261079	151261079	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:151261079delC	uc001exq.2	+	3	2289	c.2191delC	c.(2191-2193)CCCfs	p.P731fs	ZNF687_uc009wmo.2_Frame_Shift_Del_p.P731fs|ZNF687_uc009wmp.2_Frame_Shift_Del_p.P731fs	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAAGAATCGACCCCCCCATGT	0.577												
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353												
GTPBP4	23560	broad.mit.edu	37	10	1058424	1058426	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:1058424_1058426delAAG	uc001ift.2	+	14	1435_1437	c.1364_1366delAAG	c.(1363-1368)AAAGAA>AAA	p.E458del	GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_In_Frame_Del_p.E342del|GTPBP4_uc010qae.1_In_Frame_Del_p.E411del	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	G protein-binding protein CRFG	458					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GAATTAGAAAAAGAAGAAGAGCT	0.414												
USP6NL	9712	broad.mit.edu	37	10	11504926	11504926	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:11504926delG	uc001ikt.3	-	15	2322	c.2001delC	c.(1999-2001)TCCfs	p.S667fs	USP6NL_uc001iks.1_Frame_Shift_Del_p.S684fs	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	667						intracellular	Rab GTPase activator activity				0						GAGGTCTCCTGGAAGGATTCA	0.527												
CYP26C1	340665	broad.mit.edu	37	10	94828412	94828412	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:94828412delC	uc010qns.1	+	6	1527	c.1527delC	c.(1525-1527)CACfs	p.H509fs	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	509					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)				TCTTTTTCCACCCCCTCACGC	0.677												
ENTPD7	57089	broad.mit.edu	37	10	101439208	101439208	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:101439208delA	uc001kqa.3	+	4	560	c.382delA	c.(382-384)AAAfs	p.K128fs	ENTPD7_uc009xwl.2_Frame_Shift_Del_p.K130fs	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	128	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ACCAGTGGTTAAAAAAATCAA	0.413												
TBX10	347853	broad.mit.edu	37	11	67402372	67402373	+	Frame_Shift_Ins	INS	-	-	G	rs144542807		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:67402372_67402373insG	uc001omp.2	-	3	379_380	c.291_292insC	c.(289-294)CCCTTCfs	p.P97fs		NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	97_98	T-box.				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TTCACCTGGAAGGGGGGGAACA	0.678												
LPCAT3	10162	broad.mit.edu	37	12	7092599	7092600	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:7092599_7092600insA	uc001qsi.2	-	2	366_367	c.252_253insT	c.(250-255)TTTAACfs	p.F84fs	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Intron|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Intron	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	84_85	Helical; (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			ovary(1)	1						TCACCAAAGTTAAAATAAGCAA	0.401												
ITPR2	3709	broad.mit.edu	37	12	26568291	26568292	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:26568291_26568292insA	uc001rhg.2	-	51	7667_7668	c.7250_7251insT	c.(7249-7251)TTGfs	p.L2417fs	ITPR2_uc009zjg.1_Frame_Shift_Ins_p.L568fs	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2417	Extracellular (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					AGTCATCCTTCAAAAAAAGGAA	0.411												
CCDC41	51134	broad.mit.edu	37	12	94725476	94725477	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:94725476_94725477insT	uc001tdd.2	-	14	2292_2293	c.1706_1707insA	c.(1705-1707)AAGfs	p.K569fs	CCDC41_uc001tde.2_Frame_Shift_Ins_p.K569fs|CCDC41_uc009zsw.1_RNA	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	561	Potential.										0						AACCACTTGCCTTTTTCTGGGC	0.262												
KIAA1409	57578	broad.mit.edu	37	14	94079256	94079256	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:94079256delA	uc001ybv.1	+	25	3486	c.3403delA	c.(3403-3405)AAGfs	p.K1135fs	KIAA1409_uc001ybs.1_Frame_Shift_Del_p.K1113fs	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1290						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GTTCATGGCCAAGGATGAAAG	0.527												
RABEP1	9135	broad.mit.edu	37	17	5284683	5284683	+	Splice_Site	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:5284683delG	uc002gbm.3	+	17	2595	c.2371_splice	c.e17-1	p.A791_splice	RABEP1_uc010vsw.1_Splice_Site_p.A748_splice|RABEP1_uc002gbl.3_Splice_Site_p.A758_splice|NUP88_uc002gbn.2_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1						apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						GTATTTTTTAGGCTACCGTTG	0.383												
MYOCD	93649	broad.mit.edu	37	17	12626278	12626278	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:12626278delA	uc002gnn.2	+	5	667	c.368delA	c.(367-369)GAAfs	p.E123fs	MYOCD_uc002gno.2_Frame_Shift_Del_p.E123fs|MYOCD_uc002gnp.1_Frame_Shift_Del_p.E27fs	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	123	RPEL 3.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GAGCTGGTGGAAAAAAACATT	0.468												
COL1A1	1277	broad.mit.edu	37	17	48272956	48272956	+	Frame_Shift_Del	DEL	G	G	-	rs72645369		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:48272956delG	uc002iqm.2	-	17	1253	c.1127delC	c.(1126-1128)CCTfs	p.P376fs		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	376	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	AGCAGGGCCAGGGGGGCCAGG	0.607			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta				OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FOXJ1	2302	broad.mit.edu	37	17	74136150	74136150	+	Frame_Shift_Del	DEL	G	G	-	rs145296122	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:74136150delG	uc002jqw.2	-	1	417	c.327delC	c.(325-327)CCCfs	p.P109fs	FOXJ1_uc002jqx.2_Frame_Shift_Del_p.P109fs|uc002jqy.1_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	forkhead box J1	109					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			pancreas(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			CCACGTCGTCGGGGGGTGGGG	0.706												
COLEC12	81035	broad.mit.edu	37	18	334972	334972	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:334972delG	uc002kkm.2	-	6	1801	c.1586delC	c.(1585-1587)CCGfs	p.P529fs		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	529	Collagen-like 2.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGGTGGGCCCGGGGGGCCTGG	0.716												
KIAA0427	9811	broad.mit.edu	37	18	46284491	46284491	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:46284491delG	uc002ldc.2	+	8	1071	c.786delG	c.(784-786)AAGfs	p.K262fs	KIAA0427_uc002ldd.2_Frame_Shift_Del_p.K262fs|KIAA0427_uc002lde.3_5'Flank	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	262	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						CAGGCGACAAGGGGGAGGCAG	0.642												
ZNF524	147807	broad.mit.edu	37	19	56113688	56113688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:56113688delG	uc002qlk.1	+	2	293	c.210delG	c.(208-210)CAGfs	p.Q70fs	FIZ1_uc002qli.3_5'Flank|FIZ1_uc002qlj.3_5'Flank	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	zinc finger protein 524	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGCAGGTGCAGGGGGTGACAG	0.672												
CCDC88A	55704	broad.mit.edu	37	2	55562112	55562112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:55562112delT	uc002ryv.2	-	15	2687	c.1845delA	c.(1843-1845)AAAfs	p.K615fs	CCDC88A_uc010yoz.1_Frame_Shift_Del_p.K615fs|CCDC88A_uc010ypa.1_Frame_Shift_Del_p.K615fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.K517fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.2_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	615	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						GTTCCAATTCTTTTTTAATTT	0.254												
FAM123C	205147	broad.mit.edu	37	2	131521308	131521308	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:131521308delG	uc002trw.2	+	2	1853	c.1663delG	c.(1663-1665)GGGfs	p.G555fs	FAM123C_uc010fmv.2_Frame_Shift_Del_p.G555fs|FAM123C_uc010fms.1_Frame_Shift_Del_p.G555fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.G555fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.G555fs	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	555										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CTCAGATGCAGGGGGGGCGAC	0.711												
NCKAP5	344148	broad.mit.edu	37	2	133971293	133971293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:133971293delC	uc002ttp.2	-	5	576	c.202delG	c.(202-204)GCCfs	p.A68fs	NCKAP5_uc002ttq.2_Frame_Shift_Del_p.A68fs|NCKAP5_uc002ttt.1_Frame_Shift_Del_p.A68fs|NCKAP5_uc002tts.1_Frame_Shift_Del_p.A43fs	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	68							protein binding				0						CTTACCATGGCCCCCTCACTT	0.473												
PLA2R1	22925	broad.mit.edu	37	2	160813055	160813055	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:160813055delC	uc002ube.1	-	21	3195	c.2988delG	c.(2986-2988)GGGfs	p.G996fs	PLA2R1_uc010zcp.1_Frame_Shift_Del_p.G996fs|PLA2R1_uc002ubf.2_Frame_Shift_Del_p.G996fs	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	996	Extracellular (Potential).|C-type lectin 6.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						CGACCAGGGTCCCCCCTTCTT	0.433												
BMPR2	659	broad.mit.edu	37	2	203332384	203332384	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:203332384delT	uc002uzf.3	+	3	1538	c.390delT	c.(388-390)AATfs	p.N130fs	BMPR2_uc010ftr.2_Frame_Shift_Del_p.N130fs|BMPR2_uc002uze.2_Frame_Shift_Del_p.N130fs	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	130	Extracellular (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						TTACTGAGAATTTTCCACCTC	0.343												
C2orf67	151050	broad.mit.edu	37	2	210887679	210887680	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:210887679_210887680insT	uc002vds.2	-	15	3165_3166	c.2957_2958insA	c.(2956-2958)AATfs	p.N986fs	C2orf67_uc002vdt.2_Frame_Shift_Ins_p.N944fs	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	986										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		CCTGTCACCTATTTTTTTTAAC	0.416												
LCA5L	150082	broad.mit.edu	37	21	40782015	40782015	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr21:40782015delT	uc002yxu.2	-	9	1485	c.1172delA	c.(1171-1173)AAGfs	p.K391fs	LCA5L_uc002yxv.2_Frame_Shift_Del_p.K391fs	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	391											0		Prostate(19;1.2e-06)				TCCTGTTGCCTTTTTACCCTG	0.313												
BCR	613	broad.mit.edu	37	22	23523816	23523816	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:23523816delG	uc002zww.2	+	1	1265	c.669delG	c.(667-669)GTGfs	p.V223fs	BCR_uc002zwx.2_Frame_Shift_Del_p.V223fs	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	223	Kinase.|Binding to ABL SH2-domain.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						GCTCGAGCGTGGGGGATGCAT	0.667			T	ABL1| FGFR1|JAK2 	CML|ALL|AML							
TFDP2	7029	broad.mit.edu	37	3	141724321	141724321	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:141724321delT	uc003eun.3	-	4	527	c.148delA	c.(148-150)ACCfs	p.T50fs	TFDP2_uc010hur.2_5'UTR|TFDP2_uc003eul.3_5'UTR|TFDP2_uc011bnf.1_5'UTR|TFDP2_uc011bng.1_Intron|TFDP2_uc003eum.3_5'UTR|TFDP2_uc003euo.2_RNA	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	50					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1						GGTCCTAAGGTTTTTGGTAAA	0.303												
HTT	3064	broad.mit.edu	37	4	3227435	3227436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:3227435_3227436insG	uc011bvq.1	+	58	7964_7965	c.7819_7820insG	c.(7819-7821)CGGfs	p.R2607fs		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2605					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAACCCCGAGCGGGAGCTGGGG	0.634												
CC2D2A	57545	broad.mit.edu	37	4	15601172	15601172	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:15601172delA	uc010idv.2	+	37	4762	c.4517delA	c.(4516-4518)GAAfs	p.E1506fs	CC2D2A_uc003gnx.2_Frame_Shift_Del_p.E1398fs|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	1506					cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3						ATACTAAAAGAAAAAATCATG	0.378												
TERT	7015	broad.mit.edu	37	5	1294898	1294898	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:1294898delG	uc003jcb.1	-	1	265	c.207delC	c.(205-207)CCCfs	p.P69fs	TERT_uc003jca.1_Frame_Shift_Del_p.P69fs|TERT_uc003jcc.1_Frame_Shift_Del_p.P69fs|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	69	RNA-interacting domain 1.|GQ motif.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCGGAAGGAgggggcggcgg	0.682									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic			
IL31RA	133396	broad.mit.edu	37	5	55168250	55168251	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:55168250_55168251delAT	uc003jql.2	+	4	490_491	c.425_426delAT	c.(424-426)CATfs	p.H142fs	IL31RA_uc003jqk.2_Frame_Shift_Del_p.H142fs|IL31RA_uc011cqj.1_5'UTR|IL31RA_uc003jqm.2_Frame_Shift_Del_p.H110fs|IL31RA_uc003jqn.2_Frame_Shift_Del_p.H142fs|IL31RA_uc010iwa.1_Frame_Shift_Del_p.H110fs|IL31RA_uc003jqo.2_5'UTR	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	110	Extracellular (Potential).|Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ATTAAATCTCATATGACATACT	0.347												
TRIM27	5987	broad.mit.edu	37	6	28872041	28872043	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:28872041_28872043delAGA	uc003nlr.2	-	8	1705_1707	c.1346_1348delTCT	c.(1345-1350)TTCTAC>TAC	p.F449del	TRIM27_uc003nls.2_In_Frame_Del_p.S356del|TRIM27_uc003nlt.1_3'UTR	NM_006510	NP_006501	P14373	TRI27_HUMAN	ret finger protein	449	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			ovary(1)	1						GTCACGTTGTAGAAGGAGACCTC	0.547			T	RET	papillary thyroid							
HLA-A	3105	broad.mit.edu	37	6	29911091	29911092	+	Frame_Shift_Ins	INS	-	-	G	rs1136702		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:29911091_29911092insG	uc003nol.2	+	3	390_391	c.390_391insG	c.(388-393)GACGGGfs	p.D130fs	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Frame_Shift_Ins_p.D9fs|HLA-A_uc003nok.2_Frame_Shift_Ins_p.D9fs|HLA-A_uc003non.2_Frame_Shift_Ins_p.D130fs|HLA-A_uc003noo.2_Frame_Shift_Ins_p.D130fs|HLA-A_uc010jrr.2_Frame_Shift_Ins_p.D130fs|HLA-A_uc003nom.2_Frame_Shift_Ins_p.D9fs|HLA-A_uc010klp.2_Frame_Shift_Ins_p.D102fs|HLA-A_uc011dmc.1_Frame_Shift_Ins_p.D9fs|HLA-A_uc011dmd.1_Frame_Shift_Ins_p.D9fs	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	130_131	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TGGGGTCGGACGGGCGCTTCCT	0.698									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)		
MDC1	9656	broad.mit.edu	37	6	30675439	30675439	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:30675439delC	uc003nrg.3	-	8	3357	c.2917delG	c.(2917-2919)GCGfs	p.A973fs	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	973				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						AGGTCCCCCGCCCCCACCCCA	0.642								Other_conserved_DNA_damage_response_genes				
TINAG	27283	broad.mit.edu	37	6	54254616	54254617	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:54254616_54254617insG	uc003pcj.2	+	11	1470_1471	c.1324_1325insG	c.(1324-1326)TGGfs	p.W442fs	TINAG_uc010jzt.2_RNA	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	442					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGGAAAGTCATGGGGAGAGAAT	0.396												
BACH2	60468	broad.mit.edu	37	6	90661567	90661568	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:90661567_90661568insC	uc011eab.1	-	7	1066_1067	c.257_258insG	c.(256-258)GGCfs	p.G86fs	BACH2_uc003pnw.2_Frame_Shift_Ins_p.G86fs|BACH2_uc010kch.2_Frame_Shift_Ins_p.G86fs	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	86	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GCGGCCCAAAGCCCCTGGCTGT	0.520												
ARHGEF10	9639	broad.mit.edu	37	8	1851547	1851548	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:1851547_1851548delAG	uc003wpr.2	+	16	1929_1930	c.1751_1752delAG	c.(1750-1752)AAGfs	p.K584fs	ARHGEF10_uc003wpq.1_Frame_Shift_Del_p.K608fs|ARHGEF10_uc003wps.2_Frame_Shift_Del_p.K546fs|ARHGEF10_uc003wpt.2_Frame_Shift_Del_p.K460fs|ARHGEF10_uc003wpv.2_Frame_Shift_Del_p.K317fs|ARHGEF10_uc010lre.2_Frame_Shift_Del_p.K264fs	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	609					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AATGAAAGAAAGAGAGATGCTG	0.460												
SULF1	23213	broad.mit.edu	37	8	70488249	70488249	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:70488249delG	uc010lza.1	+	6	934	c.217delG	c.(217-219)GGGfs	p.G73fs	SULF1_uc003xyd.2_Frame_Shift_Del_p.G73fs|SULF1_uc003xye.2_Frame_Shift_Del_p.G73fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.G73fs|SULF1_uc003xyg.2_Frame_Shift_Del_p.G73fs	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	73					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TATGGAACATGGGGGGGCCAC	0.493												
ANGPT1	284	broad.mit.edu	37	8	108348381	108348381	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:108348381delT	uc003ymn.2	-	3	1040	c.572delA	c.(571-573)AACfs	p.N191fs	ANGPT1_uc011lhv.1_5'UTR|ANGPT1_uc003ymo.2_Frame_Shift_Del_p.N191fs	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	191	Potential.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TCCTCACCTGTTTTTTTCATG	0.368												
C5	727	broad.mit.edu	37	9	123753470	123753470	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:123753470delT	uc004bkv.2	-	23	2970	c.2940delA	c.(2938-2940)AAAfs	p.K980fs		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	980					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTAATTTACCTTTTACACTCA	0.348												
MSL3	10943	broad.mit.edu	37	X	11790306	11790307	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:11790306_11790307insC	uc004cuw.2	+	11	1418_1419	c.1313_1314insC	c.(1312-1314)TACfs	p.Y438fs	MSL3_uc004cux.2_Frame_Shift_Ins_p.Y379fs|MSL3_uc011mig.1_Frame_Shift_Ins_p.Y289fs|MSL3_uc011mih.1_Frame_Shift_Ins_p.Y426fs|MSL3_uc004cuy.2_Frame_Shift_Ins_p.Y272fs	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3-like 1 isoform a	438					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCTGACAATTACCCCCCAGGTG	0.455												
FAM46D	169966	broad.mit.edu	37	X	79698294	79698295	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:79698294_79698295insT	uc004edl.1	+	5	590_591	c.256_257insT	c.(256-258)ATTfs	p.I86fs	FAM46D_uc004edm.1_Frame_Shift_Ins_p.I86fs	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	86										lung(2)	2						TCTGGACGTTATTTTTGGTGTT	0.381												
SLC45A1	50651	broad.mit.edu	37	1	8390484	8390484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:8390483_8390483GC>G	uc001apb.3	+	3	930	c.930_930GC>G	c.(928-930)ctgfs	p.L310fs	SLC45A1_uc001apc.3_Frame_Shift_Del_p.L8fs	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	310					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCCGCTGCCCCCGTCCC	0.716												
RERE	473	broad.mit.edu	37	1	8674748	8674748	+	Splice_Site	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:8674747_8674747TA>T	uc001ape.3	-	5	1207	c.397_splice	c.e5-1	p.V133_splice	RERE_uc001apf.3_Splice_Site_p.V133_splice|RERE_uc001aph.1_Splice_Site_p.V133_splice	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	133	BAH.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTGTGGACCTAAAAAAGAAA	0.512												
VPS13D	55187	broad.mit.edu	37	1	12335954	12335954	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:12335953_12335953AC>A	uc001atv.3	+	18	2449	c.2308_2308AC>A	c.(2308-2310)accfs	p.T770fs	VPS13D_uc001atw.3_Frame_Shift_Del_p.T770fs|VPS13D_uc001atx.3_5'UTR	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	770					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGAATATAAGACCCCCCTGGC	0.458											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AADACL3	126767	broad.mit.edu	37	1	12785495	12785496	+	Frame_Shift_Ins	INS	-	-	T	rs7513079	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:12785494_12785495G>GT	uc009vnn.1	+	3	817_818	c.584_585G>GT	c.(583-585)tgtfs	p.C195fs	AADACL3_uc001aug.1_Frame_Shift_Ins_p.C125fs	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	195			C -> F (in dbSNP:rs7513079).				hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTGCTACTGTTTTTTTCAAA	0.460												
ARID1A	8289	broad.mit.edu	37	1	27088788	27088788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:27088787_27088787AG>A	uc001bmv.1	+	6	2769	c.2396_2396AG>A	c.(2395-2397)cagfs	p.Q799fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q799fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Q799fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Q416fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	799					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TATGGTCCCCAGGGGGGTCAG	0.552			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
ARID1A	8289	broad.mit.edu	37	1	27106804	27106804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:27106803_27106803AC>A	uc001bmv.1	+	19	6787	c.6414_6414AC>A	c.(6412-6414)acafs	p.T2138fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.T1921fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.T984fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.T466fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.T380fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2138					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCTGGCCACACCCCCCTTCA	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
ATPIF1	93974	broad.mit.edu	37	1	28564412	28564414	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:28564411_28564413TAAG>T	uc001bpq.3	+	2	336_338	c.243_245TAAG>T	c.(241-246)cataag>caTg	p.K83del	ATPIF1_uc001bpp.3_3'UTR|ATPIF1_uc001bpr.3_3'UTR	NM_016311	NP_057395	Q9UII2	ATIF1_HUMAN	Homo sapiens ATPase inhibitory factor 1 (ATPIF1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	83					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	ATPase binding|ATPase inhibitor activity|angiostatin binding|calmodulin binding|protein homodimerization activity	p.K82Q(4)|p.K82N(2)		lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTTCATCATAAGAAGGAGATT	0.414												
CSF3R	1441	broad.mit.edu	37	1	36935323	36935323	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:36935322_36935322TG>T	uc001caw.2	-	10	1989	c.1405_1405CA>A	c.(1405-1407)agcfs	p.S469fs	CSF3R_uc001cav.2_Frame_Shift_Del_p.S469fs|CSF3R_uc001cax.2_Frame_Shift_Del_p.S469fs	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCC	0.637												
TIE1	7075	broad.mit.edu	37	1	43772910	43772910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:43772909_43772909GC>G	uc001ciu.3	+	4	914	c.737_737GC>G	c.(736-738)tgcfs	p.C246fs	TIE1_uc010okd.2_Frame_Shift_Del_p.C246fs|TIE1_uc010oke.2_Frame_Shift_Del_p.C201fs|TIE1_uc009vwq.3_Intron|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'UTR|TIE1_uc010okc.2_Frame_Shift_Del_p.C246fs	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	246	EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAATGTGTATGCCCCCCTGGC	0.632												
RABGGTB	5876	broad.mit.edu	37	1	76259888	76259888	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:76259887_76259887CG>C	uc001dgy.1	+	7	895	c.824_824CG>C	c.(823-825)acgfs	p.T275fs	MSH4_uc001dhd.2_5'Flank|RABGGTB_uc009wbt.1_Non-coding_Transcript|RABGGTB_uc001dhc.1_Non-coding_Transcript	NM_004582	NP_004573	P53611	PGTB2_HUMAN	Homo sapiens Rab geranylgeranyltransferase, beta subunit (RABGGTB), mRNA.	275					protein modification process|visual perception		Rab geranylgeranyltransferase activity|metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						GATGAAGAAACGGGGGGATTT	0.388												
SLC22A15	55356	broad.mit.edu	37	1	116563380	116563380	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:116563379_116563379AT>A	uc001egb.4	+	3	601	c.471_471AT>A	c.(469-471)ggafs	p.G157fs	SLC22A15_uc001ega.2_Frame_Shift_Del_p.G157fs	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA.	157					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTGCAAATGGATTTTCCCCCT	0.388											OREG0013699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ADAM30	11085	broad.mit.edu	37	1	120438116	120438116	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:120438115_120438115CT>C	uc001eij.3	-	0	1033	c.845_845AG>G	c.(844-846)agtfs	p.S282fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	282	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATTTAATACACTTTTTTTATA	0.343												
C1orf54	79630	broad.mit.edu	37	1	150246562	150246562	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:150246561_150246561AC>A	uc001euc.3	+	2	181	c.118_118AC>A	c.(118-120)accfs	p.T40fs	C1orf54_uc001eud.3_Frame_Shift_Del_p.T40fs|C1orf54_uc001eue.3_Frame_Shift_Del_p.T40fs	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	Homo sapiens chromosome 1 open reading frame 54 (C1orf54), mRNA.	40						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTATACAGTCACCCCCAGTTA	0.443												
HORMAD1	84072	broad.mit.edu	37	1	150687103	150687104	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:150687102_150687103CTG>C	uc001evk.2	-	3	348_349	c.230_231CAG>G	c.(229-231)cagfs	p.Q77fs	HORMAD1_uc001evl.2_Frame_Shift_Del_p.Q77fs|HORMAD1_uc001evm.2_Intron	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	77	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			atttcactaactgtgtagatcc	0.282												
COPA	1314	broad.mit.edu	37	1	160265548	160265548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:160265547_160265547CA>C	uc001fvv.4	-	22	2876	c.2482_2482TG>G	c.(2482-2484)gaafs	p.E828fs	COPA_uc009wti.3_Frame_Shift_Del_p.E819fs	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	819					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGGTGCCTTCAAAAAATCCT	0.428												
USP21	27005	broad.mit.edu	37	1	161134660	161134660	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:161134659_161134659CA>C	uc010pkc.2	+	11	1796	c.1419_1419CA>C	c.(1417-1419)atcfs	p.I473fs	USP21_uc010pkd.2_Frame_Shift_Del_p.I473fs|USP21_uc021pbv.1_Non-coding_Transcript|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	473					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAGGCTCCATCAAAAAAAGTT	0.517												
HMCN1	83872	broad.mit.edu	37	1	185962382	185962383	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:185962381_185962382CTT>C	uc001grq.1	+	22	3674_3675	c.3445_3446CTT>C	c.(3445-3447)cttfs	p.L1149fs	HMCN1_uc001grr.1_Frame_Shift_Del_p.L490fs	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1149	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGGATGTATCTTTGTGTTGCC	0.416												
CACNA1S	779	broad.mit.edu	37	1	201022361	201022363	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:201022360_201022362TGAA>T	uc001gvv.3	-	30	4063_4065	c.3836_3838TTCA>A	c.(3835-3840)ttcatc>tAtc	p.1279_1280FI>Y		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1279					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACAGCGTAGATGAAGAAGAGCAT	0.626												
EPHX1	2052	broad.mit.edu	37	1	226026384	226026384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:226026383_226026383GC>G	uc001hpk.3	+	3	473	c.393_393GC>G	c.(391-393)aagfs	p.K131fs	EPHX1_uc001hpl.3_Frame_Shift_Del_p.K131fs	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	131					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCACGTGAAGCCCCCCCAGC	0.622												
WNT9A	7483	broad.mit.edu	37	1	228111954	228111954	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr1:228111953_228111953GC>G	uc001hri.2	-	2	589	c.501_501GC>C	c.(499-501)ggcfs	p.G167fs		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	167					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity	p.G167fs*38(1)|p.C168fs*6(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGTCTCCGCAGCCCCCCCACT	0.632												
NRXN1	9378	broad.mit.edu	37	2	51254941	51254942	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:51254940_51254941G>GC	uc021vhh.1	-	0	1392_1393	c.471_472C>GC	c.(469-474)gggctgfs	p.G157fs	NRXN1_uc021vhg.1_Frame_Shift_Ins_p.G157fs|NRXN1_uc021vhi.1_Frame_Shift_Ins_p.G157fs|NRXN1_uc021vhj.1_Frame_Shift_Ins_p.G157fs|NRXN1_uc021vhk.1_Frame_Shift_Ins_p.G157fs	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	157	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.I465fs*15(1)|p.V158V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCCGGGGGCAGCCCCCCGACGA	0.658												
FBXO48	554251	broad.mit.edu	37	2	68692195	68692195	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:68692194_68692194AT>A	uc002seo.3	-	2	492	c.84_84AT>T	c.(82-84)aatfs	p.N28fs	APLF_uc010fdf.2_5'Flank|APLF_uc002sep.3_5'Flank	NM_001024680	NP_001019851	Q5FWF7	FBX48_HUMAN	Homo sapiens F-box protein 48 (FBXO48), mRNA.	28										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTTGACTCTCATTTTTTTCCT	0.368												
VAX2	25806	broad.mit.edu	37	2	71160174	71160174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:71160173_71160173TC>T	uc002shh.3	+	2	744	c.712_712TC>T	c.(712-714)tccfs	p.S238fs	ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.3_5'Flank	NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	Homo sapiens ventral anterior homeobox 2 (VAX2), mRNA.	238					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GGCCTCAGCGTCCCCCCCACT	0.692												
MPHOSPH10	10199	broad.mit.edu	37	2	71360643	71360644	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:71360642_71360643A>AT	uc002sht.2	+	1	1056_1057	c.704_705A>AT	c.(703-705)gatfs	p.D235fs	MPHOSPH10_uc010feb.1_Frame_Shift_Ins_p.D235fs	NM_005791	NP_005782	O00566	MPP10_HUMAN	Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA.	235					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GAAGATATTGATTTTTTTGAAG	0.347												
DUSP11	8446	broad.mit.edu	37	2	74007024	74007026	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:74007023_74007025CCTT>C	uc002sjp.3	-	0	260_262	c.218_220AAGG>G	c.(217-222)aagggc>aGgc	p.73_74KG>R	DUSP11_uc002sjq.4_In_Frame_Del_p.73_74KG>R	NM_003584	NP_003575	O75319	DUS11_HUMAN	Homo sapiens dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) (DUSP11), mRNA.	26					RNA processing	nucleus	RNA binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TGGTTTCCGCCCTTCTTCTTGGC	0.606											OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EIF5B	9669	broad.mit.edu	37	2	99980750	99980750	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:99980749_99980749GA>G	uc002tab.3	+	5	1337	c.1153_1153GA>G	c.(1153-1155)gaafs	p.E385fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	385					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTGGAACaagaaaaaagaga	0.308												
ANKAR	150709	broad.mit.edu	37	2	190541315	190541316	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:190541314_190541315C>CT	uc002uqw.2	+	1	186_187	c.98_99C>CT	c.(97-99)gctfs	p.A33fs	ANKAR_uc002uqu.3_Intron|ANKAR_uc002uqv.1_Frame_Shift_Ins_p.A33fs	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	33						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AATGCATCTGCTTTTTTTGAAA	0.381												
PARD3B	117583	broad.mit.edu	37	2	206166298	206166299	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:206166297_206166298C>CA	uc002var.2	+	17	2709_2710	c.2502_2503C>CA	c.(2500-2505)gtcaaafs	p.V834fs	PARD3B_uc010fub.2_Frame_Shift_Ins_p.V834fs|PARD3B_uc002vao.2_Frame_Shift_Ins_p.V834fs|PARD3B_uc002vap.2_Frame_Shift_Ins_p.V772fs|PARD3B_uc002vaq.2_Frame_Shift_Ins_p.V765fs	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	834	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction		p.T776fs*13(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCAGGAAAGTCAAAAAAACgaa	0.426												
ABCB6	10058	broad.mit.edu	37	2	220081103	220081103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:220081102_220081102AC>A	uc002vkc.2	-	3	2733	c.954_954GT>T	c.(952-954)ggtfs	p.G318fs	ABCB6_uc010fwe.2_Frame_Shift_Del_p.G272fs|ABCB6_uc010zku.1_Non-coding_Transcript	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	318	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	p.G318fs*9(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCAGTGCCACCCCCCTGGA	0.567												
STK11IP	114790	broad.mit.edu	37	2	220478946	220478946	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:220478945_220478945AC>A	uc002vml.3	+	21	2855	c.2812_2812AC>A	c.(2812-2814)accfs	p.T938fs		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	938					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGAGGTCACCCCCCAGCA	0.602												
UGT1A1	54658	broad.mit.edu	37	2	234590735	234590736	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:234590734_234590735A>AG	uc002vut.3	+	0	151_152	c.151_152A>AG	c.(151-153)aggfs	p.R51fs	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Frame_Shift_Ins_p.R51fs	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	53					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ACTCATCCTCAGGGGGCATGAG	0.550												
HDAC4	9759	broad.mit.edu	37	2	240033244	240033244	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr2:240033243_240033243TG>T	uc002vyk.4	-	13	2734	c.1942_1942CA>A	c.(1942-1944)accfs	p.T648fs	HDAC4_uc010fyz.1_Frame_Shift_Del_p.T643fs|HDAC4_uc010zoa.1_Frame_Shift_Del_p.T648fs|HDAC4_uc010fza.2_Frame_Shift_Del_p.T653fs|HDAC4_uc010fyy.3_Frame_Shift_Del_p.T605fs|HDAC4_uc010znz.1_Frame_Shift_Del_p.T531fs	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	648					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CTCGGCTTGGTGGGGGGCTCC	0.706												
SRGAP3	9901	broad.mit.edu	37	3	9034600	9034601	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:9034599_9034600A>AC	uc003brf.1	-	19	3224_3225	c.2548_2549T>GT	c.(2548-2550)gtgfs	p.V850fs	SRGAP3_uc003brg.1_Frame_Shift_Ins_p.V826fs	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.G849E(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma							
TTLL3	26140	broad.mit.edu	37	3	9862377	9862377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:9862376_9862376AC>A	uc003btg.3	+	6	1152	c.676_676AC>A	c.(676-678)accfs	p.T226fs	TTLL3_uc003btd.4_Frame_Shift_Del_p.T287fs|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_Frame_Shift_Del_p.T14fs|TTLL3_uc010hco.1_Frame_Shift_Del_p.T162fs|TTLL3_uc003bth.4_Frame_Shift_Del_p.T14fs|TTLL3_uc011atj.2_Frame_Shift_Del_p.T162fs|TTLL3_uc003btj.4_Frame_Shift_Del_p.T14fs|TTLL3_uc003bti.4_Frame_Shift_Del_p.T14fs	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	226	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GCTGTACCTCACCCCCGAGGG	0.602												
IL17RC	84818	broad.mit.edu	37	3	9974363	9974365	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:9974362_9974364CCTT>C	uc003bua.3	+	16	1889_1891	c.1671_1673CCTT>C	c.(1669-1674)ctcctt>ctCt	p.557_558LL>L	CIDEC_uc003bto.3_Intron|IL17RC_uc003btz.3_In_Frame_Del_p.486_487LL>L|IL17RC_uc011atp.2_In_Frame_Del_p.325_326LL>L|IL17RC_uc003bud.3_In_Frame_Del_p.27_28LL>L|IL17RC_uc010hct.3_In_Frame_Del_p.486_487LL>L|IL17RC_uc010hcu.3_In_Frame_Del_p.469_470LL>L|IL17RC_uc003bub.3_In_Frame_Del_p.471_472LL>L|IL17RC_uc010hcv.3_In_Frame_Del_p.454_455LL>L|IL17RC_uc003buc.3_In_Frame_Del_p.27_28LL>L|IL17RC_uc011atq.2_In_Frame_Del_p.471_472LL>L|IL17RC_uc003bue.3_In_Frame_Del_p.122_123LL>L|CRELD1_uc003buh.3_5'Flank|CRELD1_uc003buf.3_5'Flank|CRELD1_uc003bug.3_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	557						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCCTCATCCTCCTTCTCAAAAAG	0.606											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CAND2	23066	broad.mit.edu	37	3	12875432	12875434	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:12875431_12875433CAGA>C	uc003bxk.2	+	14	3710_3712	c.3661_3663CAGA>C	c.(3661-3663)cag>C	p.Q1221del	CAND2_uc003bxj.2_In_Frame_Del_p.Q1104del	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	1221					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGAAAGCATCCAGAAGGATTCCG	0.571												
MLH1	4292	broad.mit.edu	37	3	37050312	37050331	+	Frame_Shift_Del	DEL	ACCTTTTTTACAACATAGCC	ACCTTTTTTACAACATAGCC	-	rs4647256	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:37050311_37050330GACCTTTTTTACAACATAGCC>G	uc003cgl.3	+	5	658_677	c.460_479GACCTTTTTTACAACATAGCC>G	c.(460-480)gaccttttttacaacatagccfs	p.D154fs	MLH1_uc011aye.2_5'UTR|MLH1_uc011ayb.2_5'UTR|MLH1_uc010hge.3_Frame_Shift_Del_p.D154fs|MLH1_uc011ayc.2_Frame_Shift_Del_p.D56fs|MLH1_uc011ayd.2_5'UTR|MLH1_uc003cgo.3_Intron|MLH1_uc003cgn.4_5'UTR	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	154					mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.N158H(2)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGA	0.382		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome			
ZDHHC3	51304	broad.mit.edu	37	3	44968294	44968295	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:44968293_44968294G>GT	uc003cod.3	-	7	1145_1146	c.871_872C>AC	c.(871-873)acafs	p.T291fs	ZDHHC3_uc003cog.3_Frame_Shift_Ins_p.T263fs|ZDHHC3_uc021wws.1_Intron	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	Homo sapiens zinc finger, DHHC-type containing 3 (ZDHHC3), transcript variant 2, mRNA.	291						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CATCCATTTTGTTTTTTTAGCC	0.470												
TMEM45A	55076	broad.mit.edu	37	3	100274058	100274059	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:100274057_100274058T>TG	uc003dua.1	+	2	249_250	c.50_51T>TG	c.(49-51)atgfs	p.M17fs	TMEM45A_uc003dtz.1_Frame_Shift_Ins_p.M1fs	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN	Homo sapiens transmembrane protein 45A (TMEM45A), mRNA.	1						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TTGTAGATCATGGGGAATTTCA	0.361												
BBX	56987	broad.mit.edu	37	3	107491918	107491918	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:107491917_107491917TA>T	uc010hpr.3	+	10	1676	c.1349_1349TA>T	c.(1348-1350)ctafs	p.L450fs	BBX_uc003dwk.4_Frame_Shift_Del_p.L450fs|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Frame_Shift_Del_p.L471fs|BBX_uc003dwm.4_Frame_Shift_Del_p.L450fs|BBX_uc003dwo.4_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	450	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CCAGAAAAGCTAAAAAAGAAA	0.373												
KIAA2018	205717	broad.mit.edu	37	3	113379675	113379677	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:113379674_113379676ATTC>A	uc003eam.3	-	6	1264_1266	c.853_855GAAT>T	c.(853-855)aat>T	p.N285del	KIAA2018_uc003eal.3_In_Frame_Del_p.N229del	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	285					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCTCTTGTCCATTCTTATTTTCA	0.419												
CEP63	80254	broad.mit.edu	37	3	134251733	134251733	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:134251732_134251732CA>C	uc003eqo.1	+	5	880	c.431_431CA>C	c.(430-432)gcafs	p.A144fs	CEP63_uc003eql.1_Frame_Shift_Del_p.A144fs|CEP63_uc003eqm.3_Frame_Shift_Del_p.A144fs|CEP63_uc003eqn.1_Frame_Shift_Del_p.A144fs	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	144					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGGTTAACTGCAAAAATAGAG	0.363												
GYG1	2992	broad.mit.edu	37	3	148714559	148714560	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:148714558_148714559CAG>C	uc003ewn.3	+	3	581_582	c.348_349CAG>C	c.(346-351)gacagafs	p.D116fs	GYG1_uc011bnp.2_Frame_Shift_Del_p.D116fs|GYG1_uc003ewo.3_Frame_Shift_Del_p.D116fs|GYG1_uc003ewp.3_Frame_Shift_Del_p.D116fs	NM_004130	NP_004121	P46976	GLYG_HUMAN	Homo sapiens glycogenin 1 (GYG1), transcript variant 1, mRNA.	116					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATCTTTTTGACAGAGAAGAATT	0.426												
BCHE	590	broad.mit.edu	37	3	165547795	165547795	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:165547794_165547794GT>G	uc003fem.4	-	1	1188	c.1028_1028AC>C	c.(1027-1029)accfs	p.T343fs	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	343					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			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					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)	CAAAATCTGGGTTTTTTTAAA	0.383												
FETUB	26998	broad.mit.edu	37	3	186370137	186370138	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr3:186370136_186370137A>AC	uc010hyq.3	+	7	1126_1127	c.865_866A>AC	c.(865-867)accfs	p.T289fs	FETUB_uc011brz.2_Frame_Shift_Ins_p.T141fs|FETUB_uc003fqn.3_Frame_Shift_Ins_p.T289fs|FETUB_uc010hyr.3_Frame_Shift_Ins_p.T252fs|FETUB_uc010hys.3_Frame_Shift_Ins_p.T141fs|FETUB_uc003fqp.4_Frame_Shift_Ins_p.T224fs	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	289						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GCAGAAAAACACCCCCCCAACA	0.495												
HTT	3064	broad.mit.edu	37	4	3227436	3227437	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:3227435_3227436C>CG	uc021xkv.1	+	56	7958_7959	c.7813_7814C>CG	c.(7813-7815)cggfs	p.R2605fs		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2605					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAACCCCGAGCGGGAGCTGGGG	0.634												
ZBTB49	166793	broad.mit.edu	37	4	4303754	4303754	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:4303753_4303753GT>G	uc003ghu.3	+	2	365	c.190_190GT>G	c.(190-192)gttfs	p.V64fs	ZBTB49_uc003ghv.3_Intron|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_5'Flank	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	64	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GAAGAATGATGTTTTTCACTT	0.353												
SPARCL1	8404	broad.mit.edu	37	4	88415530	88415530	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:88415529_88415529CA>C	uc010ikm.3	-	4	995	c.423_423TG>G	c.(421-423)ttgfs	p.L141fs	SPARCL1_uc011cdc.2_Frame_Shift_Del_p.L16fs|SPARCL1_uc003hqs.4_Frame_Shift_Del_p.L141fs|SPARCL1_uc011cdd.2_Frame_Shift_Del_p.L16fs	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	141					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CACCAGGAGCCAAAAAATCAG	0.383												
ENPEP	2028	broad.mit.edu	37	4	111412242	111412243	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:111412241_111412242T>TC	uc003iab.4	+	2	1181_1182	c.839_840T>TC	c.(838-840)gtcfs	p.V280fs		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	280					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GAGAAGTCTGTCCCCATGAGCA	0.337												
FHDC1	85462	broad.mit.edu	37	4	153864507	153864507	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr4:153864506_153864506CT>C	uc003inf.2	+	0	372	c.297_297CT>C	c.(295-297)agcfs	p.S99fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	99	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGATGAGAAGCTTTTTTTGGA	0.512												
DNAH5	1767	broad.mit.edu	37	5	13714533	13714533	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:13714532_13714532TG>T	uc003jfd.2	-	74	13149	c.13107_13107CA>A	c.(13105-13107)ccafs	p.P4369fs	DNAH5_uc003jfc.2_Frame_Shift_Del_p.P537fs	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4369					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGACATAGTCTGGGGGCAGCT	0.557									Kartagener syndrome			
CDH9	1007	broad.mit.edu	37	5	26890634	26890634	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:26890633_26890633CA>C	uc003jgs.1	-	7	1463	c.1294_1294TG>G	c.(1294-1296)ggtfs	p.G432fs	CDH9_uc011cnv.1_Frame_Shift_Del_p.G25fs	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	432	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G432G(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GAGTGAATACCAAAAATACGG	0.393												
DHX29	54505	broad.mit.edu	37	5	54572100	54572100	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:54572099_54572099AT>A	uc003jpx.3	-	13	2542	c.2422_2422AT>T	c.(2422-2424)tatfs	p.Y808fs	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	808							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTTACCTGATATTTTTTTATT	0.333												
MAP1B	4131	broad.mit.edu	37	5	71492991	71492992	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:71492990_71492991A>AC	uc003kbw.4	+	4	4049_4050	c.3808_3809A>AC	c.(3808-3810)accfs	p.T1270fs	MAP1B_uc010iyw.1_Frame_Shift_Ins_p.T1287fs|MAP1B_uc010iyx.1_Frame_Shift_Ins_p.T1144fs|MAP1B_uc010iyy.1_Frame_Shift_Ins_p.T1144fs	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1270						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTTAGAAAAGACCCCCCTGGGT	0.515												
CMYA5	202333	broad.mit.edu	37	5	79025081	79025081	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:79025080_79025080CA>C	uc003kgc.3	+	1	564	c.492_492CA>C	c.(490-492)aacfs	p.N164fs		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	164						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTCCAACAAACAAAAAAGGCA	0.388												
HAPLN1	1404	broad.mit.edu	37	5	82948434	82948434	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr5:82948433_82948433GT>G	uc003kim.3	-	1	382	c.311_311AC>C	c.(310-312)accfs	p.T104fs	HAPLN1_uc003kin.3_Frame_Shift_Del_p.T104fs	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	104	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.T104fs*8(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GCCTCCATAGGTTTTTTTGTG	0.443												
JARID2	3720	broad.mit.edu	37	6	15452325	15452325	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:15452324_15452324AC>A	uc003nbj.3	+	3	655	c.411_411AC>A	c.(409-411)ctafs	p.L137fs	JARID2_uc011diu.1_Intron|JARID2_uc011div.2_5'UTR|JARID2_uc011diw.1_Frame_Shift_Del_p.L99fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	137					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGCCATTGCTACCCCCTCCAG	0.473												
ETV7	51513	broad.mit.edu	37	6	36336716	36336717	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:36336715_36336716T>TC	uc003omb.3	-	5	1056_1057	c.797_798A>GA	c.(796-798)ggafs	p.G266fs	ETV7_uc003olz.2_Frame_Shift_Ins_p.G266fs|ETV7_uc003oma.2_Frame_Shift_Ins_p.G211fs|ETV7_uc003omc.3_Frame_Shift_Ins_p.G211fs|ETV7_uc010jwj.3_Frame_Shift_Ins_p.G207fs|ETV7_uc010jwi.3_Frame_Shift_Ins_p.G189fs|ETV7_uc010jwh.3_Frame_Shift_Ins_p.G185fs|ETV7_uc011dtl.2_Frame_Shift_Ins_p.G115fs	NM_016135	NP_001193970	Q9Y603	ETV7_HUMAN	Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA.	266					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CCTTGTGATTTCCCCAGAGTCT	0.540												
TREML2	79865	broad.mit.edu	37	6	41168714	41168715	+	In_Frame_Ins	INS	-	-	CAG			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:41168713_41168714A>ACAG	uc010jxm.1	-	0	212_213	c.33_34T>CTGT	c.(31-36)ctgtgg>ctCTGTgg	p.W12C		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	12					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCTGTGGCCACAGCAGCAGCA	0.624												
TINAG	27283	broad.mit.edu	37	6	54254617	54254618	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:54254616_54254617T>TG	uc003pcj.2	+	10	1470_1471	c.1324_1325T>TG	c.(1324-1326)tggfs	p.W442fs	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	442					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGGAAAGTCATGGGGAGAGAAT	0.396												
TTK	7272	broad.mit.edu	37	6	80750419	80750422	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:80750418_80750421AAAGT>A	uc003pjc.3	+	21	2601	c.2490_splice	c.e21+1	p.K830_splice	TTK_uc003pjb.4_Splice_Site_p.K829_splice	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	830					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GAAAGCTGCTAAAGTAAGTATGTC	0.348												
NT5E	4907	broad.mit.edu	37	6	86200308	86200310	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:86200307_86200309TGAA>T	uc003pko.4	+	6	1848_1850	c.1292_1294TGAA>T	c.(1291-1296)ctgaag>cTag	p.K433del	NT5E_uc010kbr.3_Intron	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	433					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	GGTTCCACCCTGAAGAAGGCCTT	0.557												
BACH2	60468	broad.mit.edu	37	6	90661568	90661569	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:90661567_90661568G>GC	uc011eab.2	-	6	1131_1132	c.257_258C>GC	c.(256-258)ggcfs	p.G86fs	BACH2_uc003pnw.3_Frame_Shift_Ins_p.G86fs|BACH2_uc010kch.3_Frame_Shift_Ins_p.G86fs	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	86	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GCGGCCCAAAGCCCCTGGCTGT	0.520												
HEY2	23493	broad.mit.edu	37	6	126080811	126080813	+	In_Frame_Del	DEL	GCA	GCA	-	rs146693390		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:126080810_126080812CGCA>C	uc003qad.3	+	4	1067_1069	c.876_878CGCA>C	c.(874-879)aacgca>aaCa	p.A296del	HEY2_uc011ebr.2_In_Frame_Del_p.A250del	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	296	Ala-rich.				Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	RNA polymerase II activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TTCCCCCAAACGCAGCAGCAGCA	0.645												
PTPRK	5796	broad.mit.edu	37	6	128294219	128294219	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:128294218_128294218GA>G	uc003qbk.3	-	28	4582	c.4215_4215TC>C	c.(4213-4215)ttcfs	p.F1405fs	PTPRK_uc010kfc.3_Frame_Shift_Del_p.F1412fs|PTPRK_uc003qbj.3_Frame_Shift_Del_p.F1406fs|PTPRK_uc011ebu.2_Frame_Shift_Del_p.F1428fs	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1405	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.V1405L(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTACTGCATGGAAAACATCGA	0.448												
CNKSR3	154043	broad.mit.edu	37	6	154481013	154481013	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:154481012_154481012TG>T	uc021zhc.1	-	21	3156	c.2651_2651CA>A	c.(2650-2652)cagfs	p.Q884fs	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpv.3_Frame_Shift_Del_p.Q293fs|CNKSR3_uc003qpw.3_Frame_Shift_Del_p.Q423fs|CNKSR3_uc003qpx.3_Frame_Shift_Del_p.Q422fs|CNKSR3_uc010kjh.3_Frame_Shift_Del_p.Q423fs	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	0					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CTTGAGTTCCTGGGGGGTGTC	0.458												
IGF2R	3482	broad.mit.edu	37	6	160485488	160485489	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:160485487_160485488C>CG	uc003qta.3	+	27	4089_4090	c.3941_3942C>CG	c.(3940-3942)acgfs	p.T1314fs		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1314					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			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATGAACTTCACGGGGGGGGACA	0.505												
SLC22A1	6580	broad.mit.edu	37	6	160557266	160557267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr6:160557265_160557266T>TC	uc003qtc.3	+	4	958_959	c.853_854T>TC	c.(853-855)tccfs	p.S285fs	SLC22A1_uc003qtd.3_Frame_Shift_Ins_p.S285fs	NM_003057	NP_003048	O15245	S22A1_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA.	285						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TGTGCCGGAGTCCCCTCGGTGG	0.500												
EGFR	1956	broad.mit.edu	37	7	55221748	55221748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:55221747_55221747GC>G	uc003tqk.3	+	6	1037	c.791_791GC>G	c.(790-792)tgcfs	p.C264fs	EGFR_uc003tqh.3_Frame_Shift_Del_p.C264fs|EGFR_uc003tqi.3_Frame_Shift_Del_p.C264fs|EGFR_uc003tqj.3_Frame_Shift_Del_p.C264fs|EGFR_uc022adm.1_Frame_Shift_Del_p.C264fs|EGFR_uc010kzg.2_Frame_Shift_Del_p.C219fs|EGFR_uc022adn.1_Frame_Shift_Del_p.C219fs|EGFR_uc011kco.2_Frame_Shift_Del_p.C211fs|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	264					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.T263P(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGGACACCTGCCCCCCACTC	0.577		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
BAZ1B	9031	broad.mit.edu	37	7	72879862	72879863	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:72879861_72879862T>TA	uc003tyc.3	-	10	3330_3331	c.2978_2979A>TA	c.(2977-2979)ttafs	p.L993fs		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	993					ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GACTATCACATAAAAACCTGTA	0.391												
GTF2I	2969	broad.mit.edu	37	7	74131266	74131268	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:74131265_74131267CAGA>C	uc003uau.3	+	10	1245_1247	c.875_877CAGA>C	c.(874-879)gcagaa>gCaa	p.E293del	GTF2I_uc003uat.3_In_Frame_Del_p.E273del|GTF2I_uc003uav.3_In_Frame_Del_p.E293del|GTF2I_uc003uaw.3_In_Frame_Del_p.E273del|GTF2I_uc003uay.3_In_Frame_Del_p.E292del|GTF2I_uc003uax.3_In_Frame_Del_p.E273del|BC070376_uc003uaz.3_Intron	NM_032999	NP_127492	P78347	GTF2I_HUMAN	Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA.	293					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GAAGTACCAGCAGAAGGTTAGGA	0.305												
IMMP2L	83943	broad.mit.edu	37	7	111127377	111127377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:111127376_111127376TC>T	uc003vfq.2	-	2	600	c.157_157GA>A	c.(157-159)agcfs	p.S53fs	IMMP2L_uc010ljr.2_Frame_Shift_Del_p.S53fs|IMMP2L_uc003vfr.3_Frame_Shift_Del_p.S53fs	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN	Homo sapiens IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) (IMMP2L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	53					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GATGACTGGCTCCCCCCAGGA	0.413												
ZNF862	643641	broad.mit.edu	37	7	149557773	149557773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:149557772_149557772CG>C	uc010lpn.3	+	6	1715	c.1523_1523CG>C	c.(1522-1524)acgfs	p.T508fs		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGAGGTTACACGGGGCCTTTT	0.448												
ABP1	26	broad.mit.edu	37	7	150555030	150555030	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:150555029_150555029AC>A	uc003why.1	+	2	5689	c.1471_1471AC>A	c.(1471-1473)accfs	p.T491fs	ABP1_uc003whz.1_Frame_Shift_Del_p.T491fs|ABP1_uc003wia.1_Frame_Shift_Del_p.T491fs	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	491					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CACCTTCTACACCCCCGAGGG	0.562												
SLC4A2	6522	broad.mit.edu	37	7	150771824	150771825	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr7:150771823_150771824A>AC	uc022apz.1	+	18	3982_3983	c.2942_2943A>AC	c.(2941-2943)aacfs	p.N981fs	SLC4A2_uc003wit.4_Frame_Shift_Ins_p.N981fs|SLC4A2_uc011kve.2_Frame_Shift_Ins_p.N972fs|SLC4A2_uc003wiu.4_Frame_Shift_Ins_p.N967fs	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	981	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGTCATCAACCCCCTGGGAG	0.569												
GPR124	25960	broad.mit.edu	37	8	37691605	37691606	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:37691604_37691605T>TG	uc003xkj.3	+	10	1952_1953	c.1566_1567T>TG	c.(1564-1569)attgggfs	p.I522fs	GPR124_uc010lvy.3_Frame_Shift_Ins_p.I522fs	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	522					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGAGCGCATTGGGGGGGCCGC	0.683												
TOX	9760	broad.mit.edu	37	8	59750826	59750827	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:59750825_59750826G>GT	uc003xtw.1	-	4	959_960	c.738_739C>AC	c.(736-741)aaaccafs	p.K246fs		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	246						nucleus	DNA binding	p.K245E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GGAGTTTTTGGTTTTTTCCCCA	0.450												
MAL2	114569	broad.mit.edu	37	8	120252427	120252428	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr8:120252426_120252427G>GT	uc003yop.3	+	3	427_428	c.325_326G>GT	c.(325-327)gtafs	p.V109fs		NM_052886	NP_443118	Q969L2	MAL2_HUMAN	Homo sapiens mal, T-cell differentiation protein 2 (gene/pseudogene) (MAL2), mRNA.	109	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CCATTTTACAGTATTTGTCTTC	0.356												
PSIP1	11168	broad.mit.edu	37	9	15465556	15465557	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:15465555_15465556G>GTC	uc003zlv.4	-	15	1885_1886	c.1555_1556C>GAC	c.(1555-1557)actfs	p.T519fs	PSIP1_uc003zlw.4_Frame_Shift_Ins_p.T519fs|SNAPC3_uc003zlu.3_Non-coding_Transcript	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	519					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		AGATATTTCAGTCTCTCTCTCT	0.366												
IPPK	64768	broad.mit.edu	37	9	95418758	95418759	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:95418757_95418758T>TC	uc004asl.1	-	2	482_483	c.205_206A>GA	c.(205-207)gagfs	p.E69fs		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	69					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						AACATAGTTCTCCCCCAAAAAC	0.421												
NOXA1	10811	broad.mit.edu	37	9	140328769	140328769	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr9:140328768_140328768GC>G	uc004cmu.3	+	13	1543	c.1408_1408GC>G	c.(1408-1410)gccfs	p.A470fs	NOXA1_uc004cmv.3_Frame_Shift_Del_p.A463fs|NOXA1_uc010nch.3_Frame_Shift_Del_p.A414fs	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.	463			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	NADPH oxidase complex|cytoplasm	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		GATGTCAGGAGCCCCCGGCCG	0.622												
ITIH5	80760	broad.mit.edu	37	10	7618918	7618918	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:7618917_7618917TG>T	uc021pmv.1	-	9	1583	c.1477_1477CA>A	c.(1477-1479)agcfs	p.S493fs	ITIH5_uc021pmu.1_Frame_Shift_Del_p.S279fs|ITIH5_uc001ijr.2_Frame_Shift_Del_p.S493fs	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	493					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P492P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACCACTGAGCTGGGGGGATAA	0.587												
FRMD4A	55691	broad.mit.edu	37	10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGG	0.532												
DNAJC1	64215	broad.mit.edu	37	10	22208767	22208767	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:22208766_22208766AT>A	uc001irc.3	-	4	917	c.630_630AT>T	c.(628-630)aatfs	p.N210fs	DNAJC1_uc021pnz.1_Non-coding_Transcript	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	210					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CTCACCTTTCATTTTTTTCTG	0.294												
CTNNA3	29119	broad.mit.edu	37	10	67680208	67680209	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:67680207_67680208G>GT	uc009xpn.1	-	17	2691_2692	c.2568_2569C>AC	c.(2566-2571)aaacccfs	p.K856fs	CTNNA3_uc001jmw.2_Frame_Shift_Ins_p.K856fs	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	856					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.P857fs*4(3)|p.K855E(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTAATCAAGGGTTTTTTTGCAG	0.465												
KIAA1274	27143	broad.mit.edu	37	10	72299505	72299506	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:72299504_72299505G>GC	uc001jrd.4	+	14	2175_2176	c.1894_1895G>GC	c.(1894-1896)gccfs	p.A632fs	KIAA1274_uc001jre.4_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	632										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						GGACTTCTGTGCCCCCCGAGAG	0.649												
PLAU	5328	broad.mit.edu	37	10	75673438	75673439	+	Frame_Shift_Ins	INS	-	-	G	rs145070893	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:75673437_75673438C>CG	uc001jwa.3	+	6	747_748	c.601_602C>CG	c.(601-603)cggfs	p.R201fs	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Frame_Shift_Ins_p.R184fs|PLAU_uc010qkx.2_Frame_Shift_Ins_p.R115fs|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Frame_Shift_Ins_p.R201fs|PLAU_uc009xrq.1_Frame_Shift_Ins_p.R165fs	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	201	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CAGGAGGCACCGGGGGGGCTCT	0.589												
DPYSL4	10570	broad.mit.edu	37	10	134018422	134018423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:134018421_134018422CCT>C	uc009ybb.3	+	13	1860_1861	c.1706_1707CCT>C	c.(1705-1707)accfs	p.T569fs		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	569					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TCCAACATCACCTCTCTCTCCT	0.658												
MTG1	92170	broad.mit.edu	37	10	135211971	135211971	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr10:135211970_135211970TA>T	uc001lnd.3	+	3	418	c.314_314TA>T	c.(313-315)ctafs	p.L105fs	MTG1_uc010qve.2_Frame_Shift_Del_p.L21fs	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	105						mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GGAGAAGGCCTAAAAAATGTC	0.408												
NUP98	4928	broad.mit.edu	37	11	3797187	3797188	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:3797186_3797187C>CA	uc001lyh.3	-	4	841_842	c.420_421G>TG	c.(418-423)tttggcfs	p.F140fs	NUP98_uc001lyi.3_Frame_Shift_Ins_p.F140fs|NUP98_uc001lyj.2_Frame_Shift_Ins_p.F140fs|NUP98_uc001lyk.2_Frame_Shift_Ins_p.F140fs|NUP98_uc010qxv.2_Frame_Shift_Ins_p.F103fs	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	140	Gly/Thr-rich.				DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GATGTGCTGCCAAAAGGATTAG	0.391			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML							
ILK	3611	broad.mit.edu	37	11	6629353	6629354	+	Frame_Shift_Ins	INS	-	-	G	rs141701406		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:6629352_6629353C>CG	uc001mee.3	+	2	301_302	c.166_167C>CG	c.(166-168)cggfs	p.R56fs	ILK_uc001mef.3_Frame_Shift_Ins_p.R56fs|ILK_uc010rap.2_Intron|ILK_uc010raq.2_Frame_Shift_Ins_p.R56fs|ILK_uc001meh.3_Frame_Shift_Ins_p.R56fs	NM_001014794	NP_004508	Q13418	ILK_HUMAN	Homo sapiens integrin-linked kinase (ILK), transcript variant 2, mRNA.	56	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GTTGATCATGCGGGGGGCACGG	0.564												
DCHS1	8642	broad.mit.edu	37	11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-	rs143767864	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:6662141_6662141CG>C	uc001mem.1	-	1	1105	c.704_704CG>G	c.(703-705)cggfs	p.R235fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGA	0.587												
CYB5R2	51700	broad.mit.edu	37	11	7689748	7689748	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:7689747_7689747GT>G	uc001mfm.3	-	5	672	c.434_434AC>C	c.(433-435)acafs	p.T145fs	CYB5R2_uc001mfn.3_Non-coding_Transcript|CYB5R2_uc009yfk.3_Frame_Shift_Del_p.T145fs|CYB5R2_uc009yfl.1_3'UTR	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA.	145					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATCGGCCAGTGTTTTTTTAGG	0.522												
MICALCL	84953	broad.mit.edu	37	11	12315442	12315442	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:12315441_12315441GA>G	uc001mkg.1	+	2	754	c.463_463GA>G	c.(463-465)gaafs	p.E155fs		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	155					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AGAAGACCGGGAAAAAGGGAG	0.567												
HPS5	11234	broad.mit.edu	37	11	18313387	18313388	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:18313386_18313387C>CT	uc001mod.1	-	15	2320_2321	c.2042_2043G>AG	c.(2041-2043)aagfs	p.K681fs	HPS5_uc001moe.1_Frame_Shift_Ins_p.K567fs|HPS5_uc001mof.1_Frame_Shift_Ins_p.K567fs	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	681						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTAATATTCCCTTTTTTGATTC	0.347									Hermansky-Pudlak syndrome			
PRMT3	10196	broad.mit.edu	37	11	20515777	20515777	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:20515776_20515776GA>G	uc001mqb.3	+	14	1679	c.1462_1462GA>G	c.(1462-1464)gaafs	p.E488fs	PRMT3_uc001mqc.3_Frame_Shift_Del_p.E411fs|PRMT3_uc010rdn.2_Frame_Shift_Del_p.E426fs	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	488							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ATTTCTACTGGAAAAACCATT	0.373												
PAX6	5080	broad.mit.edu	37	11	31812317	31812318	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:31812316_31812317T>TG	uc009yjr.3	-	11	1593_1594	c.1124_1125A>CA	c.(1123-1125)ccafs	p.P375fs	PAX6_uc001mtd.4_Frame_Shift_Ins_p.P375fs|PAX6_uc001mte.4_Frame_Shift_Ins_p.P375fs|PAX6_uc001mtg.4_Frame_Shift_Ins_p.P389fs|PAX6_uc001mtf.4_Frame_Shift_Ins_p.P375fs|PAX6_uc001mth.4_Frame_Shift_Ins_p.P375fs|PAX6_uc021qfl.1_Frame_Shift_Ins_p.P389fs|PAX6_uc021qfm.1_Frame_Shift_Ins_p.P389fs	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation			
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:35513669_35513669AC>A	uc001mwf.3	-	2	346	c.303_303GT>T	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATG	0.522												
AMBRA1	55626	broad.mit.edu	37	11	46564257	46564257	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:46564256_46564256CG>C	uc001ncv.2	-	7	1355	c.1041_1041CG>G	c.(1039-1041)ccgfs	p.P347fs	AMBRA1_uc010rgt.1_Frame_Shift_Del_p.P3fs|AMBRA1_uc009ylc.1_Frame_Shift_Del_p.P437fs|AMBRA1_uc001ncu.1_Frame_Shift_Del_p.P347fs|AMBRA1_uc010rgu.1_Frame_Shift_Del_p.P437fs|AMBRA1_uc001ncw.2_Frame_Shift_Del_p.P347fs|AMBRA1_uc001ncx.2_Frame_Shift_Del_p.P437fs	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	413					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TGGTTCTGGGCGGGGGCATGG	0.572												
FOLH1	2346	broad.mit.edu	37	11	49179535	49179535	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:49179534_49179534CT>C	uc001ngy.3	-	13	1763	c.1502_1502AG>G	c.(1501-1503)agtfs	p.S501fs	FOLH1_uc009yly.3_Frame_Shift_Del_p.S486fs|FOLH1_uc009ylz.3_Frame_Shift_Del_p.S486fs|FOLH1_uc001ngz.3_Frame_Shift_Del_p.S501fs|FOLH1_uc009yma.3_Frame_Shift_Del_p.S193fs	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	501	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.K500E(1)|p.S501fs*12(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGGGGAAGGACTTTTTTTAGT	0.348												
OR8H1	219469	broad.mit.edu	37	11	56057710	56057711	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:56057709_56057710T>TA	uc010rje.2	-	0	829_830	c.829_830A>TA	c.(829-831)tatfs	p.Y277fs		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CACAATAGTATAAAAAACAGAA	0.351												
MARK2	2011	broad.mit.edu	37	11	63672464	63672464	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:63672463_63672463CG>C	uc001nxw.3	+	15	2461	c.1882_1882CG>C	c.(1882-1884)cggfs	p.R628fs	MARK2_uc001nxv.4_Frame_Shift_Del_p.R573fs|MARK2_uc001nxx.3_Frame_Shift_Del_p.R574fs|MARK2_uc001nxy.3_Frame_Shift_Del_p.R573fs|MARK2_uc001nxz.4_Frame_Shift_Del_p.R594fs|MARK2_uc009yoy.3_Frame_Shift_Del_p.R548fs	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	628					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCAGGGCCGGCGGGGGGCCTC	0.627												
TBX10	347853	broad.mit.edu	37	11	67402373	67402374	+	Frame_Shift_Ins	INS	-	-	G	rs144542807		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:67402372_67402373A>AG	uc001omp.3	-	2	379_380	c.291_292T>CT	c.(289-294)cccttcfs	p.P97fs		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	97					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TTCACCTGGAAGGGGGGGAACA	0.678												
AMOTL1	154810	broad.mit.edu	37	11	94533230	94533230	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:94533229_94533229AG>A	uc001pfb.3	+	2	1043	c.873_873AG>A	c.(871-873)ggafs	p.G291fs	AMOTL1_uc001pfc.3_Frame_Shift_Del_p.G241fs	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	291						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TCAAAGTAGGAGGGGGGCCCT	0.607												
NPAT	4863	broad.mit.edu	37	11	108042927	108042928	+	Splice_Site	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:108042926_108042927C>CT	uc001pjz.4	-	13	2887	c.2785_splice	c.e13+1	p.G929_splice	NPAT_uc010rvv.2_5'Flank|NPAT_uc001pka.3_Frame_Shift_Ins_p.Q723fs	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	929					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTAAAGTTACCTTGTGAAAAGT	0.376												
NLRX1	79671	broad.mit.edu	37	11	119053878	119053878	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:119053877_119053877TG>T	uc001pvu.3	+	9	2872	c.2657_2657TG>T	c.(2656-2658)ttgfs	p.L886fs	NLRX1_uc001pvv.3_Intron|NLRX1_uc001pvw.3_Frame_Shift_Del_p.L886fs|NLRX1_uc001pvx.3_Frame_Shift_Del_p.L886fs|PDZD3_uc001pvz.3_5'Flank|PDZD3_uc010rzd.2_5'Flank|PDZD3_uc001pvy.3_5'Flank|PDZD3_uc001pwa.3_5'Flank|PDZD3_uc001pwb.3_5'Flank	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	886	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TTGCGAGACTTGGGGGGTGCT	0.587												
C1QTNF5	114902	broad.mit.edu	37	11	119210190	119210191	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:119210189_119210190G>GC	uc001pwj.2	-	14	3379_3380	c.583_584C>GC	c.(583-585)gccfs	p.A195fs		NM_015645	NP_056460	Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	147	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589												
USP2	9099	broad.mit.edu	37	11	119243681	119243682	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:119243680_119243681T>TG	uc001pwm.4	-	1	805_806	c.510_511A>CA	c.(508-513)cccatgfs	p.P170fs	USP2_uc001pwn.4_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	170	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CGGGCCAGCATGGGGCTGCGGC	0.634												
THYN1	29087	broad.mit.edu	37	11	134121096	134121099	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr11:134121095_134121098TCAAA>T	uc001qhf.3	-	2	250_253	c.148_151TTTGA>A	c.(148-153)ttgaagfs	p.L50fs	THYN1_uc001qhg.3_Frame_Shift_Del_p.L50fs|THYN1_uc001qhh.3_Frame_Shift_Del_p.L50fs|THYN1_uc001qhi.3_Frame_Shift_Del_p.L50fs|THYN1_uc001qhj.3_Frame_Shift_Del_p.L50fs|THYN1_uc009zdb.3_Frame_Shift_Del_p.L50fs|ACAD8_uc009zdc.3_5'Flank|ACAD8_uc010sco.1_5'Flank|ACAD8_uc010scp.1_5'Flank|ACAD8_uc010scq.2_5'Flank|ACAD8_uc001qhk.3_5'Flank|ACAD8_uc001qhl.3_5'Flank	NM_001037305	NP_954995	Q9P016	THYN1_HUMAN	Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA.	50						nucleus		p.C49fs*1(2)		endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		CTTAGATTCTTCAAACAGTTTTTA	0.495												
CHD4	1108	broad.mit.edu	37	12	6708947	6708947	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:6708946_6708946CG>C	uc001qpo.3	-	9	1639	c.1475_1475CG>G	c.(1474-1476)cgtfs	p.R492fs	CHD4_uc001qpn.3_Frame_Shift_Del_p.R485fs|CHD4_uc001qpp.3_Frame_Shift_Del_p.R489fs	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	492					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CACCGTACAACGGGGACAGAG	0.527												
LPCAT3	10162	broad.mit.edu	37	12	7092600	7092601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:7092599_7092600T>TA	uc001qsi.3	-	1	366_367	c.252_253A>TA	c.(250-255)tttaacfs	p.F84fs	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.2_Intron|LPCAT3_uc010sfx.1_Non-coding_Transcript|LPCAT3_uc009zfq.1_Intron	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 3 (LPCAT3), mRNA.	84					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TCACCAAAGTTAAAATAAGCAA	0.401												
ITPR2	3709	broad.mit.edu	37	12	26568292	26568293	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:26568291_26568292C>CA	uc001rhg.3	-	50	7667_7668	c.7250_7251G>TG	c.(7249-7251)ttgfs	p.L2417fs	ITPR2_uc009zjg.1_Frame_Shift_Ins_p.L568fs	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2417					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGTCATCCTTCAAAAAAAGGAA	0.411												
GXYLT1	283464	broad.mit.edu	37	12	42481629	42481629	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:42481628_42481628CT>C	uc001rms.4	-	7	1508	c.1283_1283AG>G	c.(1282-1284)agtfs	p.S428fs	GXYLT1_uc001rmt.4_Frame_Shift_Del_p.S397fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	428					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						ATCTCTTACACTTTTTGCTAG	0.328												
FAM186B	84070	broad.mit.edu	37	12	49993929	49993931	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:49993928_49993930TCTC>T	uc001ruo.3	-	3	1666_1668	c.1493_1495GAGA>A	c.(1492-1497)gagatg>gAtg	p.498_499EM>D	FAM186B_uc010smk.2_In_Frame_Del_p.408_409EM>D	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	498						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCTGCCACATCTCCTCCTCCTC	0.635												
PRPF40B	25766	broad.mit.edu	37	12	50025258	50025258	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:50025257_50025257TC>T	uc001rur.1	+	1	155	c.92_92TC>T	c.(91-93)atcfs	p.I31fs	PRPF40B_uc001rup.1_Frame_Shift_Del_p.I53fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.I25fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	31	Pro-rich.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCACCAGCTATCCCCCCCATG	0.607												
LRP1	4035	broad.mit.edu	37	12	57572242	57572243	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:57572241_57572242C>CG	uc001snd.3	+	26	4927_4928	c.4461_4462C>CG	c.(4459-4464)tacgggfs	p.Y1487fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589												
ARHGAP9	64333	broad.mit.edu	37	12	57872323	57872324	+	Splice_Site	DEL	TG	TG	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:57872322_57872323CTG>C	uc001sod.3	-	6	940	c.747_splice	c.e6+1	p.T249_splice	ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Splice_Site_p.T178_splice|ARHGAP9_uc001soc.3_Splice_Site_p.T178_splice|ARHGAP9_uc001soe.1_Splice_Site_p.T257_splice|ARHGAP9_uc010sro.1_Splice_Site_p.T178_splice	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	178					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CTGTGACTCACTGTGCTGGCAC	0.559												
MBD6	114785	broad.mit.edu	37	12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:57921400_57921400AC>A	uc001soj.1	+	7	2417	c.2193_2193AC>A	c.(2191-2193)agafs	p.R731fs	MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	731	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTCAGGGAGACCCCCCCAAC	0.602												
LGR5	8549	broad.mit.edu	37	12	71977919	71977920	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:71977918_71977919CCT>C	uc001swl.3	+	17	2176_2177	c.2128_2129CCT>C	c.(2128-2130)cctfs	p.P710fs	LGR5_uc001swm.3_Frame_Shift_Del_p.P686fs|LGR5_uc021rar.1_Frame_Shift_Del_p.P638fs|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	710						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGGCGCCTCCCCTCTCTGCCTG	0.554												
CCDC41	51134	broad.mit.edu	37	12	94725477	94725478	+	Splice_Site	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:94725476_94725477C>CT	uc001tdd.3	-	14	2293	c.1707_splice	c.e14+1	p.K569_splice	CCDC41_uc001tde.3_Splice_Site_p.K569_splice|CCDC41_uc009zsw.1_Splice_Site	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	561										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						AACCACTTGCCTTTTTCTGGGC	0.485												
TMPO	7112	broad.mit.edu	37	12	98921672	98921673	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:98921671_98921672C>CA	uc001tfh.2	+	1	582_583	c.287_288C>CA	c.(286-288)acafs	p.T96fs	TMPO_uc001tfi.2_Frame_Shift_Ins_p.T96fs|TMPO_uc001tfl.3_Non-coding_Transcript|TMPO_uc001tfj.3_Frame_Shift_Ins_p.T96fs|TMPO_uc001tfk.3_Frame_Shift_Ins_p.T96fs	NM_003276	NP_003267	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA.	96	Linker.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGAAAGCCACAAAAAAAACTG	0.332												
ACTR6	64431	broad.mit.edu	37	12	100613799	100613799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:100613798_100613798AT>A	uc001thb.1	+	9	991	c.935_935AT>A	c.(934-936)catfs	p.H312fs	ACTR6_uc001thc.1_Frame_Shift_Del_p.H204fs|ACTR6_uc009ztu.2_Frame_Shift_Del_p.H117fs|ACTR6_uc001the.1_Frame_Shift_Del_p.H230fs|AX746635_uc001thg.1_Intron	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN	Homo sapiens ARP6 actin-related protein 6 homolog (yeast) (ACTR6), mRNA.	312						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						ATGCAGCCGCATTTTTTTAAG	0.373												
KSR2	283455	broad.mit.edu	37	12	117977605	117977605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:117977604_117977604AG>A	uc001two.2	-	9	1575	c.1520_1520CT>T	c.(1519-1521)ctcfs	p.L507fs		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGC	0.637												
NCOR2	9612	broad.mit.edu	37	12	124885065	124885065	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr12:124885064_124885064TG>T	uc021rga.1	-	14	1913	c.1796_1796CA>A	c.(1795-1797)cagfs	p.Q599fs	NCOR2_uc021rgb.1_Frame_Shift_Del_p.Q599fs|NCOR2_uc010tbb.2_Frame_Shift_Del_p.Q599fs|NCOR2_uc010tbc.2_Frame_Shift_Del_p.Q598fs|NCOR2_uc021rgc.1_Frame_Shift_Del_p.Q598fs|NCOR2_uc010tba.2_Frame_Shift_Del_p.Q599fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.Q599fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	599					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCGCTCTGCTGGGGGGTGAT	0.622												
OR4K5	79317	broad.mit.edu	37	14	20389294	20389294	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:20389293_20389293CT>C	uc010tkw.2	+	0	528	c.528_528CT>C	c.(526-528)agcfs	p.S176fs		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGTAGACAGCTTTTTTTGTG	0.418												
REC8	9985	broad.mit.edu	37	14	24646921	24646922	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:24646920_24646921A>AC	uc001wmr.3	+	11	1244_1245	c.817_818A>AC	c.(817-819)accfs	p.T273fs	REC8_uc001wms.3_Frame_Shift_Ins_p.T273fs	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	274	Glu-rich.|Pro-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TGCAGAGGTGACCCCCCCGGAG	0.614												
PAX9	5083	broad.mit.edu	37	14	37145547	37145547	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:37145546_37145546TG>T	uc001wty.4	+	4	1641	c.915_915TG>T	c.(913-915)gctfs	p.A305fs	PAX9_uc010amq.3_Non-coding_Transcript	NM_006194	NP_006185	P55771	PAX9_HUMAN	Homo sapiens paired box 9 (PAX9), mRNA.	305					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GGCAACATGCTGGGGGCACCT	0.562												
GPX2	2877	broad.mit.edu	37	14	65406501	65406501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:65406500_65406500AC>A	uc021ruq.1	-	1	366	c.279_279GT>T	c.(277-279)ggtfs	p.G93fs	CHURC1-FNTB_uc010tsk.2_Intron|CHURC1-FNTB_uc010tsj.2_Intron|CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|GPX2_uc001xhy.1_Non-coding_Transcript	NM_002083	NP_002074	P18283	GPX2_HUMAN	Homo sapiens glutathione peroxidase 2 (gastrointestinal) (GPX2), mRNA.	93					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GCTGGTATCCACCCCCAGGAC	0.537												
C14orf102	55051	broad.mit.edu	37	14	90782994	90782994	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:90782993_90782993TG>T	uc001xyi.2	-	2	569	c.336_336CA>A	c.(334-336)acafs	p.T112fs	C14orf102_uc001xyj.2_Intron	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	112							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		AATCGGTGTCTGTCTCAGACC	0.438												
BTBD7	55727	broad.mit.edu	37	14	93760865	93760866	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr14:93760864_93760865T>TA	uc001ybo.3	-	2	827_828	c.501_502A>TA	c.(499-504)tttaaafs	p.F167fs	BTBD7_uc010aur.3_5'UTR|BTBD7_uc010two.2_Frame_Shift_Ins_p.F82fs|BTBD7_uc001ybp.3_Intron|BTBD7_uc001ybq.4_Frame_Shift_Ins_p.F82fs|BTBD7_uc001ybr.3_Frame_Shift_Ins_p.F167fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	167	BTB 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGCAGTGTTTTAAAAAATGGAC	0.366												
INO80	54617	broad.mit.edu	37	15	41340436	41340437	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:41340435_41340436GAT>G	uc001zni.3	-	21	2828_2829	c.2615_2616ATC>C	c.(2614-2616)atcfs	p.I872fs	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	872	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAGACCGTTGGATATAGTCTGG	0.381												
RTF1	23168	broad.mit.edu	37	15	41750018	41750019	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:41750017_41750018AAG>A	uc001zny.3	+	3	617_618	c.605_606AAG>A	c.(604-606)aaafs	p.K202fs		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	202	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	p.K202R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ATGACAGAGAAAGAGAGAGAGC	0.510												
ADAL	161823	broad.mit.edu	37	15	43641115	43641116	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:43641114_43641115C>CA	uc010udo.2	+	9	1136_1137	c.562_563C>CA	c.(562-564)caafs	p.Q188fs	ADAL_uc001zrh.3_Frame_Shift_Ins_p.Q215fs|ADAL_uc001zri.2_Frame_Shift_Ins_p.Q100fs	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN	Homo sapiens adenosine deaminase-like (ADAL), transcript variant 1, mRNA.	215					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GATTCCAAACCAAAAAAAAGAA	0.455												
DMXL2	23312	broad.mit.edu	37	15	51773540	51773541	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr15:51773539_51773540C>CT	uc010ufy.2	-	23	5988_5989	c.5763_5764G>AG	c.(5761-5766)aaagatfs	p.K1921fs	DMXL2_uc002abd.3_5'UTR|DMXL2_uc002abf.3_Frame_Shift_Ins_p.K1921fs|DMXL2_uc010bfa.3_Frame_Shift_Ins_p.K1285fs	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1921						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCAGGCTGATCTTTTTTTGCAG	0.401												
NHLRC4	283948	broad.mit.edu	37	16	618167	618167	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:618166_618166TG>T	uc002chl.3	+	1	715	c.119_119TG>T	c.(118-120)ctgfs	p.L40fs	PIGQ_uc010bqw.3_Intron|NHLRC4_uc021szs.1_Frame_Shift_Del_p.L40fs|PIGQ_uc002chm.3_5'Flank|PIGQ_uc002chn.3_5'Flank|PIGQ_uc002cho.3_5'Flank	NM_176677	NP_788850	P0CG21	NHLC4_HUMAN	Homo sapiens NHL repeat containing 4 (NHLRC4), mRNA.	40																	CTGGGCTCCCTGGGGGGCTGG	0.662												
NARFL	64428	broad.mit.edu	37	16	786269	786269	+	Frame_Shift_Del	DEL	T	T	-	rs146262496	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:786268_786268AT>A	uc002cjr.3	-	3	449	c.437_437AT>T	c.(436-438)atafs	p.I146fs	NARFL_uc002cjp.3_Frame_Shift_Del_p.I44fs|NARFL_uc002cjq.3_Frame_Shift_Del_p.I44fs|NARFL_uc021tab.1_Intron|NARFL_uc010brc.1_Intron|NARFL_uc010uur.1_Intron	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA.	146					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				AAGCCTACCTATTTTTTTAAA	0.522												
MYH11	4629	broad.mit.edu	37	16	15820795	15820797	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:15820794_15820796GCTT>G	uc002ddx.3	-	28	3895_3897	c.3788_3790AAGC>C	c.(3787-3792)aagctg>aCtg	p.1263_1264KL>T	MYH11_uc002ddv.3_In_Frame_Del_p.1263_1264KL>T|MYH11_uc002ddw.3_In_Frame_Del_p.1256_1257KL>T|MYH11_uc002ddy.3_In_Frame_Del_p.1256_1257KL>T|MYH11_uc010bvg.3_In_Frame_Del_p.1088_1089KL>T|MYH11_uc010bvh.3_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1256			Missing (in AAT4).		axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.K1256delK(1)|p.K1263delK(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGCGCCTCCAGCTTCTTCTTCTT	0.616			T	CBFB	AML							
ARHGAP17	55114	broad.mit.edu	37	16	24960784	24960785	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:24960783_24960784G>GT	uc002dnb.3	-	12	1161_1162	c.1068_1069C>AC	c.(1066-1071)aaacttfs	p.K356fs	ARHGAP17_uc002dna.3_Frame_Shift_Ins_p.K83fs|ARHGAP17_uc002dnc.3_Frame_Shift_Ins_p.K356fs|ARHGAP17_uc010vcf.2_Frame_Shift_Ins_p.K177fs	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	356	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AAGTCTTGAAGTTTTTTGTCTT	0.332												
ZKSCAN2	342357	broad.mit.edu	37	16	25258123	25258125	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:25258122_25258124TTCC>T	uc002dod.4	-	4	1800_1802	c.1393_1395GGAA>A	c.(1393-1395)gaa>A	p.E465del	ZKSCAN2_uc010vcl.2_In_Frame_Del_p.E261del|ZKSCAN2_uc002doe.2_In_Frame_Del_p.E465del	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	465					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTTCTGCAGCTTCCTCCTCCTCC	0.463												
IL21R	50615	broad.mit.edu	37	16	27460530	27460530	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:27460529_27460529AC>A	uc002dor.2	+	9	2156	c.1608_1608AC>A	c.(1606-1608)ggafs	p.G536fs	IL21R_uc002doq.2_Frame_Shift_Del_p.G514fs|IL21R_uc002dos.2_Frame_Shift_Del_p.G514fs|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	514					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGGACGAAGGACCCCCCCGGA	0.637			T	BCL6	NHL							
SRCAP	10847	broad.mit.edu	37	16	30740725	30740725	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:30740724_30740724TC>T	uc002dze.1	+	26	6343	c.5958_5958TC>T	c.(5956-5958)cctfs	p.P1986fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.P1781fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1986					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGAGGCACCTCCCCCTTCCC	0.587												
LRRC36	55282	broad.mit.edu	37	16	67381488	67381488	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:67381487_67381487GA>G	uc002esv.3	+	3	500	c.481_481GA>G	c.(481-483)gaafs	p.E161fs	LRRC36_uc002esw.3_Non-coding_Transcript|LRRC36_uc010ceh.3_Frame_Shift_Del_p.E40fs|LRRC36_uc002esx.3_Frame_Shift_Del_p.E40fs|LRRC36_uc010vjk.2_Frame_Shift_Del_p.E40fs|LRRC36_uc010vjl.2_5'UTR	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	161										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTTAGAGGTGGAAAAAAGGTA	0.373												
PSKH1	5681	broad.mit.edu	37	16	67943339	67943339	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:67943338_67943338CG>C	uc002euv.3	+	1	856	c.686_686CG>C	c.(685-687)ccgfs	p.P229fs	PSKH1_uc010cet.2_Frame_Shift_Del_p.P229fs	NM_006742	NP_006733	P11801	KPSH1_HUMAN	Homo sapiens protein serine kinase H1 (PSKH1), mRNA.	229	Protein kinase.					Golgi apparatus|endoplasmic reticulum membrane|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		TACTACCATCCGGGCACTGAC	0.577												
ZFHX3	463	broad.mit.edu	37	16	72991758	72991758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:72991757_72991757TC>T	uc002fck.3	-	1	2961	c.2288_2288GA>A	c.(2287-2289)gagfs	p.E763fs	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	763					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGACCTGCTCCCCCCCTCC	0.622												
NUDT7	283927	broad.mit.edu	37	16	77775613	77775613	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr16:77775612_77775612AT>A	uc010chd.3	+	3	573	c.482_482AT>A	c.(481-483)catfs	p.H161fs	NUDT7_uc021tlp.1_3'UTR|NUDT7_uc021tlq.1_Frame_Shift_Del_p.H146fs|NUDT7_uc010vnj.2_Frame_Shift_Del_p.H108fs	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 7 (NUDT7), transcript variant 1, mRNA.	161	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						CATGACCAGCATTACGTCACA	0.478												
NLGN2	57555	broad.mit.edu	37	17	7319293	7319293	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:7319292_7319292CG>C	uc002ggt.1	+	5	1573	c.1500_1500CG>C	c.(1498-1500)cacfs	p.H500fs		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	500					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				ATGCGGCGCACGGGGATGAAC	0.612												
DUSP14	11072	broad.mit.edu	37	17	35872931	35872933	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:35872930_35872932GAGA>G	uc002hnx.2	+	2	850_852	c.556_558GAGA>G	c.(556-558)gag>G	p.E186del	DUSP14_uc002hnz.2_In_Frame_Del_p.E173del|DUSP14_uc021tvt.1_In_Frame_Del_p.E186del	NM_007026	NP_008957	O95147	DUS14_HUMAN	Homo sapiens dual specificity phosphatase 14 (DUSP14), mRNA.	186							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				CGACGTCTATGAGAAGGAGTCCC	0.571												
TNS4	84951	broad.mit.edu	37	17	38652589	38652595	+	Frame_Shift_Del	DEL	GGGTGCA	GGGTGCA	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:38652588_38652594TGGGTGCA>T	uc010cxb.3	-	1	248_254	c.84_90TGCACCCA>A	c.(82-90)ctgcacccafs	p.L28fs		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	28					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGCTGGGTGCTGGGTGCAGGGTCCTCC	0.676												
NFE2L1	4779	broad.mit.edu	37	17	46128959	46128959	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:46128958_46128958GC>G	uc002imz.4	+	1	1129	c.478_478GC>G	c.(478-480)gccfs	p.A160fs	NFE2L1_uc002ina.4_Frame_Shift_Del_p.A160fs|NFE2L1_uc002inb.4_Frame_Shift_Del_p.A160fs|NFE2L1_uc002inc.1_Frame_Shift_Del_p.A160fs	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	160	Asp/Glu-rich (acidic).				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.V163fs*14(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGGGCTGTAGCCCCCCCAGT	0.592												
TBX4	9496	broad.mit.edu	37	17	59560345	59560345	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:59560344_59560344TC>T	uc010ddo.3	+	8	1271	c.1108_1108TC>T	c.(1108-1110)tccfs	p.S370fs	TBX4_uc002izi.3_Frame_Shift_Del_p.S369fs|TBX4_uc010woy.2_Frame_Shift_Del_p.S370fs	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	369					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTATTTCCGTTCCCCCCCTCC	0.572												
MED13	9969	broad.mit.edu	37	17	60033826	60033826	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:60033825_60033825CT>C	uc002izo.3	-	23	5575	c.5498_5498AG>G	c.(5497-5499)agtfs	p.S1833fs		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1833					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTAGCAGAACTTTTTTTCCG	0.358												
MED13	9969	broad.mit.edu	37	17	60072555	60072555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:60072554_60072554CT>C	uc002izo.3	-	9	2217	c.2140_2140AG>G	c.(2140-2142)gatfs	p.D714fs		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	714					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTTGTCTATCTTTTTTATCA	0.363												
GPS1	2873	broad.mit.edu	37	17	80014374	80014375	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr17:80014373_80014374G>GC	uc002kdk.1	+	9	1603_1604	c.1183_1184G>GC	c.(1183-1185)gccfs	p.A395fs	GPS1_uc002kdl.1_Frame_Shift_Ins_p.A359fs|GPS1_uc010dij.1_Frame_Shift_Ins_p.A394fs|GPS1_uc002kdm.1_Frame_Shift_Ins_p.A339fs|GPS1_uc002kdn.1_Frame_Shift_Ins_p.A355fs|GPS1_uc010wvh.1_Frame_Shift_Ins_p.A351fs	NM_212492	NP_997657	Q13098	CSN1_HUMAN	Homo sapiens G protein pathway suppressor 1 (GPS1), transcript variant 1, mRNA.	359	PCI.				JNK cascade|cell cycle|cullin deneddylation|inactivation of MAPK activity	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CATGTATCTGGCCCCCCATGTC	0.678												
ROCK1	6093	broad.mit.edu	37	18	18629104	18629104	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr18:18629103_18629103AG>A	uc002kte.3	-	3	1305	c.364_364CT>T	c.(364-366)tggfs	p.W122fs		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	122	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTTTCTTCCCAGAAAAAAGCA	0.368												
JSRP1	126306	broad.mit.edu	37	19	2252750	2252751	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:2252749_2252750C>CG	uc002lvj.2	-	6	645_646	c.574_575G>CG	c.(574-576)cggfs	p.R192fs		NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	Homo sapiens junctional sarcoplasmic reticulum protein 1 (JSRP1), mRNA.	192	Pro-rich.					sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		TGCCTCGGCCCGGGGCGCAGGC	0.718												
TJP3	27134	broad.mit.edu	37	19	3738930	3738933	+	Frame_Shift_Del	DEL	TCCT	TCCT	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:3738929_3738932CTCCT>C	uc010xhv.2	+	11	1527_1530	c.1527_1530CTCCT>C	c.(1525-1530)gactccfs	p.D509fs	TJP3_uc010xhs.2_Frame_Shift_Del_p.D476fs|TJP3_uc010xht.2_Frame_Shift_Del_p.D440fs|TJP3_uc010xhu.2_Frame_Shift_Del_p.D485fs|TJP3_uc010xhw.2_Frame_Shift_Del_p.D495fs	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	490	SH3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTGGGTGACTCCTTCTACATCC	0.642												
C3	718	broad.mit.edu	37	19	6697481	6697481	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:6697480_6697480TG>T	uc002mfm.3	-	20	2733	c.2671_2671CA>A	c.(2671-2673)aagfs	p.K891fs		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	891					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AACGAGGACTTGGGGGGGATG	0.577												
TIMM44	10469	broad.mit.edu	37	19	8002975	8002975	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:8002974_8002974AT>A	uc002miz.3	-	2	422	c.250_250AT>T	c.(250-252)ttcfs	p.F84fs	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	84					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCGTCACGGAATTTTTTTATA	0.413												
ZNF333	84449	broad.mit.edu	37	19	14815865	14815865	+	Splice_Site	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:14815864_14815864AG>A	uc002mzn.3	+	6	441	c.307_splice	c.e6-2	p.G103_splice	ZNF333_uc010dzq.2_Splice_Site_p.G103_splice|ZNF333_uc002mzk.4_Splice_Site|ZNF333_uc002mzl.3_Splice_Site_p.G103_splice|ZNF333_uc010dzr.1_Splice_Site	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GTCTTTTGCCAGGGGCCGGGG	0.602												
MLL2	8085	broad.mit.edu	37	19	36210764	36210764	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:36210763_36210763AC>A	uc021usv.1	+	2	514	c.514_514AC>A	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					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			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAA	0.637			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
KIRREL2	84063	broad.mit.edu	37	19	36357214	36357214	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:36357213_36357213TC>T	uc002ocb.4	+	14	2158	c.1946_1946TC>T	c.(1945-1947)gtcfs	p.V649fs	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Frame_Shift_Del_p.V611fs|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	649	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGCATGGTCCCCCCCTGC	0.627												
HKR1	284459	broad.mit.edu	37	19	37854504	37854504	+	Frame_Shift_Del	DEL	G	G	-	rs143082320		TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:37854503_37854503AG>A	uc002ogb.3	+	5	2075	c.1806_1806AG>A	c.(1804-1806)gcafs	p.A602fs	HKR1_uc002ofx.3_Frame_Shift_Del_p.A318fs|HKR1_uc002ofy.3_Frame_Shift_Del_p.A318fs|HKR1_uc002oga.3_Frame_Shift_Del_p.A584fs|HKR1_uc010xto.2_Frame_Shift_Del_p.A584fs|HKR1_uc002ogc.3_Frame_Shift_Del_p.A583fs|HKR1_uc010xtp.2_Frame_Shift_Del_p.A541fs|HKR1_uc002ogd.3_Frame_Shift_Del_p.A541fs	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	602					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGCACACGCAGGGGGGAAGC	0.527												
SIPA1L3	23094	broad.mit.edu	37	19	38590669	38590669	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:38590668_38590668CG>C	uc002ohk.3	+	4	2241	c.1732_1732CG>C	c.(1732-1734)cggfs	p.R578fs		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	578					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGGACCGGGCGGGGCCTGCC	0.627												
FAM98C	147965	broad.mit.edu	37	19	38899502	38899503	+	In_Frame_Ins	INS	-	-	AAG	rs59917662	by1000genomes	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:38899501_38899502C>CAAG	uc002oin.1	+	7	1048_1049	c.1029_1030C>CAAG	c.(1027-1032)cgcaag>cgCAAGag	p.343_344RK>RK	FAM98C_uc002oio.1_In_Frame_Ins_p.261_262RK>RK|FAM98C_uc010xtz.1_3'UTR	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA.	343										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTGGGGTCGCAAGAAGAAGAA	0.609												
BCKDHA	593	broad.mit.edu	37	19	41916544	41916544	+	Splice_Site	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:41916543_41916543AC>A	uc002oqq.3	+	2	148	c.109_splice	c.e2-1	p.H37_splice	BCKDHA_uc002oqm.4_Splice_Site_p.H71_splice|BCKDHA_uc002oqp.2_Splice_Site|BCKDHA_uc002oqr.3_Splice_Site_p.H37_splice|BCKDHA_uc010xvz.2_Intron	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	37					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CTTCCCCAGCACCCCCCCAGG	0.612												
ZNF235	9310	broad.mit.edu	37	19	44807557	44807557	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:44807556_44807556AT>A	uc002oza.4	-	1	105	c.2_2AT>T	c.(1-3)atgfs	p.M1fs	ZNF235_uc002oyx.1_Non-coding_Transcript|ZNF235_uc010eji.3_Frame_Shift_Del_p.M1fs|ZNF235_uc002ozb.4_Frame_Shift_Del_p.M1fs	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GAACTTGGTCATTTTTCCCCT	0.438												
CKM	1158	broad.mit.edu	37	19	45810056	45810058	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:45810055_45810057ACTT>A	uc002pbd.3	-	7	1270_1272	c.1097_1099AAGT>T	c.(1096-1101)aagttg>aTtg	p.366_367KL>I		NM_001824	NP_001815	P06732	KCRM_HUMAN	Homo sapiens creatine kinase, muscle (CKM), mRNA.	366	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CCTTTCTCCAACTTCTTCTCCAT	0.591												
PPP1R15A	23645	broad.mit.edu	37	19	49379079	49379079	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr19:49379078_49379078GC>G	uc002pky.4	+	2	2142	c.1873_1873GC>G	c.(1873-1875)gccfs	p.A625fs		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	625					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCCACCTTTAGCCCCCATCCC	0.682												
BTBD3	22903	broad.mit.edu	37	20	11899095	11899096	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:11899094_11899095T>TA	uc002wnz.3	+	0	530_531	c.171_172T>TA	c.(169-174)actaaafs	p.T57fs	BTBD3_uc002wny.3_5'UTR|BTBD3_uc002woa.3_5'UTR|BTBD3_uc010zrf.2_5'UTR|BTBD3_uc010zrg.2_5'Flank|BTBD3_uc010zrh.2_5'Flank	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	57										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CCTTGAAGACTAAAAAGAAGAA	0.450												
CSRP2BP	57325	broad.mit.edu	37	20	18163930	18163931	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:18163929_18163930G>GT	uc021wbb.1	+	7	2408_2409	c.1971_1972G>GT	c.(1969-1974)gagtttfs	p.E657fs	CSRP2BP_uc002wqk.3_Frame_Shift_Ins_p.E529fs|CSRP2BP_uc010zru.2_Frame_Shift_Ins_p.E528fs	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	657	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TGTGTCAGGAGTTTTTTTGGCC	0.470												
RALGAPA2	57186	broad.mit.edu	37	20	20453589	20453589	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:20453588_20453588CA>C	uc002wrz.3	-	36	5523	c.5380_5380TG>G	c.(5380-5382)gggfs	p.G1794fs	RALGAPA2_uc002wry.3_Frame_Shift_Del_p.G1409fs|RALGAPA2_uc010zsg.2_Frame_Shift_Del_p.G1242fs|RALGAPA2_uc002wsa.1_Frame_Shift_Del_p.G566fs	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1794	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AACAGAGGCCCAAAAAATGGA	0.448												
NCOA6	23054	broad.mit.edu	37	20	33345220	33345220	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:33345219_33345219TG>T	uc002xav.3	-	7	3903	c.1332_1332CA>A	c.(1330-1332)ccafs	p.P444fs	NCOA6_uc002xaw.3_Frame_Shift_Del_p.P444fs|NCOA6_uc021wcd.1_Frame_Shift_Del_p.P444fs|NCOA6_uc021wce.1_Frame_Shift_Del_p.P444fs|NCOA6_uc021wcf.1_Frame_Shift_Del_p.P444fs|NCOA6_uc010gew.1_Frame_Shift_Del_p.P401fs	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	444	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGTTAACCGTTGGGGAGGATG	0.592												
PIGT	51604	broad.mit.edu	37	20	44049195	44049195	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:44049194_44049194AC>A	uc002xoh.2	+	7	984	c.894_894AC>A	c.(892-894)ccafs	p.P298fs	PIGT_uc010ghb.2_Frame_Shift_Del_p.P288fs|PIGT_uc010zwt.2_Non-coding_Transcript|PIGT_uc010ghd.2_Frame_Shift_Del_p.P205fs|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Frame_Shift_Del_p.P261fs|PIGT_uc010ghf.2_Frame_Shift_Del_p.P251fs|PIGT_uc010zwz.2_Frame_Shift_Del_p.P36fs|PIGT_uc010zww.2_Frame_Shift_Del_p.P242fs|PIGT_uc010zwy.2_Frame_Shift_Del_p.P196fs|PIGT_uc002xoj.2_Frame_Shift_Del_p.P298fs|PIGT_uc010zwu.2_Frame_Shift_Del_p.P36fs|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Frame_Shift_Del_p.P36fs|PIGT_uc010zwx.2_Frame_Shift_Del_p.P133fs|PIGT_uc010zxa.2_Frame_Shift_Del_p.P136fs|PIGT_uc002xol.1_Frame_Shift_Del_p.P154fs|PIGT_uc010zxb.1_5'UTR	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	298					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				AGGTGCACCCACCCCCGACCA	0.547												
MMP9	4318	broad.mit.edu	37	20	44641176	44641176	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:44641175_44641175GC>G	uc002xqz.3	+	7	1303	c.1284_1284GC>G	c.(1282-1284)gggfs	p.G428fs		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	428					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TCACTGAGGGGCCCCCCTTGC	0.627												
SULF2	55959	broad.mit.edu	37	20	46300955	46300955	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:46300954_46300954GT>G	uc002xto.3	-	10	1894	c.1564_1564AC>C	c.(1564-1566)ctcfs	p.L522fs	SULF2_uc002xtr.3_Frame_Shift_Del_p.L522fs|SULF2_uc002xtq.3_Frame_Shift_Del_p.L522fs	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	522					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TTCTTGAAGAGTTTTTTCCGG	0.597												
CABLES2	81928	broad.mit.edu	37	20	60967476	60967476	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:60967475_60967475TG>T	uc002ycv.2	-	7	1068	c.1061_1061CA>A	c.(1060-1062)catfs	p.H354fs		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 2 (CABLES2), mRNA.	354					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CAGTTTGACATGGGGGAACTT	0.542												
CHRNA4	1137	broad.mit.edu	37	20	61982302	61982302	+	Frame_Shift_Del	DEL	G	G	-	rs121912245	byFrequency	TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr20:61982301_61982301CG>C	uc002yes.2	-	4	640	c.462_462CG>G	c.(460-462)ccgfs	p.P154fs	CHRNA4_uc002yet.1_5'UTR|CHRNA4_uc010gke.1_Frame_Shift_Del_p.P83fs|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	154					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TGTAAATGGCCGGGGGAGTCC	0.612												
CECR1	51816	broad.mit.edu	37	22	17663531	17663531	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chr22:17663530_17663530CT>C	uc002zmk.1	-	6	1415	c.1203_1203AG>G	c.(1201-1203)aagfs	p.K401fs	CECR1_uc010gqu.1_Frame_Shift_Del_p.K401fs|CECR1_uc011agi.1_Frame_Shift_Del_p.K359fs|CECR1_uc002zmj.1_Frame_Shift_Del_p.K160fs	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	401					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	p.K401N(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TGGGGATGTCCTTTTTCCAGG	0.483												
MSL3	10943	broad.mit.edu	37	X	11790307	11790308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:11790306_11790307A>AC	uc004cuw.3	+	10	1418_1419	c.1313_1314A>AC	c.(1312-1314)tacfs	p.Y438fs	MSL3_uc011mig.2_Frame_Shift_Ins_p.Y289fs|MSL3_uc011mih.2_Frame_Shift_Ins_p.Y426fs|MSL3_uc004cuy.3_Frame_Shift_Ins_p.Y272fs	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	438					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CCTGACAATTACCCCCCAGGTG	0.455												
FAM46D	169966	broad.mit.edu	37	X	79698295	79698296	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:79698294_79698295A>AT	uc022bzm.1	+	0	256_257	c.256_257A>AT	c.(256-258)attfs	p.I86fs	FAM46D_uc004edl.1_Frame_Shift_Ins_p.I86fs|FAM46D_uc004edm.2_Frame_Shift_Ins_p.I86fs	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	86								p.I86I(1)|p.V85I(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TCTGGACGTTATTTTTGGTGTT	0.381												
PNMA3	29944	broad.mit.edu	37	X	152225667	152225667	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F1-6874-01A-11D-1882-08	TCGA-F1-6874-10A-01D-1882-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ec0d479-4948-4ce0-b9d0-9b808cbfcae9	bfd4cdc1-5298-4940-82cd-0994eca8b99d	g.chrX:152225666_152225666AG>A	uc022cho.1	+	0	254	c.254_254AG>A	c.(253-255)aagfs	p.K85fs	PNMA3_uc004fhc.2_Frame_Shift_Del_p.K85fs|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	85					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ataccaggaaagggggggccc	0.527												
