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
SFRS11	9295	broad.mit.edu	37	1	70716454	70716454	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:70716454A>G	uc001des.2	+	13	1545	c.1421A>G	c.(1420-1422)GAT>GGT	p.D474G	SFRS11_uc001det.2_Missense_Mutation_p.D473G|SFRS11_uc001dev.2_Missense_Mutation_p.D284G|SFRS11_uc001dew.2_Missense_Mutation_p.D414G	NM_004768	NP_004759	Q05519	SRS11_HUMAN	splicing factor, arginine/serine-rich 11	474					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0						AATGGGGATGATCATCATGAA	0.403000												
FLG	2312	broad.mit.edu	37	1	152283872	152283872	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:152283872T>G	uc001ezu.1	-	3	3526	c.3490A>C	c.(3490-3492)ACC>CCC	p.T1164P	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1164	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCACGAATGGTGTCCTGACCC	0.607000									Ichthyosis			
ASH1L	55870	broad.mit.edu	37	1	155449351	155449351	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:155449351G>C	uc009wqq.2	-	3	3790	c.3310C>G	c.(3310-3312)CCA>GCA	p.P1104A	ASH1L_uc001fkt.2_Missense_Mutation_p.P1104A|ASH1L_uc009wqr.1_Missense_Mutation_p.P1104A	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1104					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATAGGTGATGGAAGAATCTCA	0.473000												
ASH1L	55870	broad.mit.edu	37	1	155450163	155450163	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:155450163G>C	uc009wqq.2	-	3	2978	c.2498C>G	c.(2497-2499)TCT>TGT	p.S833C	ASH1L_uc001fkt.2_Missense_Mutation_p.S833C|ASH1L_uc009wqr.1_Missense_Mutation_p.S833C	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	833					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CATCTCCTTAGATTTAGGCCT	0.403000												
SIPA1L2	57568	broad.mit.edu	37	1	232564213	232564213	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:232564213C>T	uc001hvg.2	-	15	4512	c.4354G>A	c.(4354-4356)GAT>AAT	p.D1452N	SIPA1L2_uc001hvf.2_Missense_Mutation_p.D526N	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1452					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)				TTCAGAAAATCTTCTTTAGAC	0.448000												
HEATR1	55127	broad.mit.edu	37	1	236718881	236718881	+	Silent	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:236718881G>A	uc001hyd.1	-	40	5849	c.5724C>T	c.(5722-5724)TCC>TCT	p.S1908S	HEATR1_uc009xgh.1_Silent_p.S1070S	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1908					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATGTGACCTCGGAAAGTTTGA	0.413000												
TFB2M	64216	broad.mit.edu	37	1	246727680	246727680	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:246727680C>T	uc001ibn.2	-	2	495	c.370G>A	c.(370-372)GAA>AAA	p.E124K	CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_RNA	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	124					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTGTCACTTTCGAGCGCAACC	0.378000												
OR2M7	391196	broad.mit.edu	37	1	248487715	248487715	+	Silent	SNP	A	A	G			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:248487715A>G	uc010pzk.1	-	1	156	c.156T>C	c.(154-156)GAT>GAC	p.D52D		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGAGCTGGGTATCCAGGTAGA	0.527000												
MYST4	23522	broad.mit.edu	37	10	76789623	76789623	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr10:76789623G>A	uc001jwn.1	+	18	5534	c.5041G>A	c.(5041-5043)GAA>AAA	p.E1681K	MYST4_uc001jwo.1_Missense_Mutation_p.E1389K|MYST4_uc001jwp.1_Missense_Mutation_p.E1498K	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1681	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|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 factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					TGAGAACTACGAAAACCCAAG	0.493000			T	CREBBP	AML							
MTNR1B	4544	broad.mit.edu	37	11	92702951	92702951	+	Silent	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr11:92702951G>A	uc001pdk.1	+	1	163	c.60G>A	c.(58-60)CCG>CCA	p.P20P		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	20	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CAGTGCGCCCGGGCTGGTCGG	0.741000												
C11orf87	399947	broad.mit.edu	37	11	109294681	109294681	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr11:109294681G>A	uc001pkn.2	+	2	696	c.322G>A	c.(322-324)GGC>AGC	p.G108S	C11orf87_uc010rwb.1_5'Flank	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	hypothetical protein LOC399947 precursor	108	Cytoplasmic (Potential).					integral to membrane				ovary(2)	2						TCACTGCAGCGGCAGCCGCGG	0.647000												
PRPH	5630	broad.mit.edu	37	12	49690240	49690240	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr12:49690240G>T	uc001rtu.2	+	3	707	c.632G>T	c.(631-633)CGC>CTC	p.R211L		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	211	Coil 1B.|Rod.						structural molecule activity				0						ACTCTGTCCCGCCTGGAACTA	0.572000												
ESPL1	9700	broad.mit.edu	37	12	53673625	53673625	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr12:53673625C>T	uc001sck.2	+	12	2565	c.2474C>T	c.(2473-2475)ACC>ATC	p.T825I	ESPL1_uc001scj.2_Missense_Mutation_p.T500I|ESPL1_uc010soe.1_Missense_Mutation_p.T36I	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	825					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						CTCCTCCTGACCCTCGGCTGT	0.622000												
ZFC3H1	196441	broad.mit.edu	37	12	72038074	72038074	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr12:72038074T>A	uc001swo.2	-	5	1663	c.1304A>T	c.(1303-1305)CAA>CTA	p.Q435L		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	435	Potential.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						TGCCTTTGTTTGCTGCTTCCT	0.179000												
UTP20	27340	broad.mit.edu	37	12	101739354	101739354	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr12:101739354C>T	uc001tia.1	+	37	4784	c.4628C>T	c.(4627-4629)ACA>ATA	p.T1543I		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1543					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						GATTATACCACAATACTTTCC	0.308000												
POMP	51371	broad.mit.edu	37	13	29238647	29238647	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr13:29238647T>G	uc001usf.2	+	3	184	c.103T>G	c.(103-105)TTT>GTT	p.F35V		NM_015932	NP_057016	Q9Y244	POMP_HUMAN	proteasome maturation protein	35					proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex					0		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TCCTTTCAGTTTTTCTTGTGT	0.234000												
ESD	2098	broad.mit.edu	37	13	47351721	47351721	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr13:47351721C>A	uc001vbn.2	-	9	821	c.638G>T	c.(637-639)GGA>GTA	p.G213V	ESD_uc001vbo.2_Missense_Mutation_p.G213V|ESD_uc001vbp.1_Missense_Mutation_p.G71V	NM_001984	NP_001975	P10768	ESTD_HUMAN	esterase D/formylglutathione hydrolase	213						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CAGCTGAGATCCTGGATAGGA	0.368000												
RTF1	23168	broad.mit.edu	37	15	41766890	41766890	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr15:41766890C>G	uc001zny.2	+	9	1288	c.1276C>G	c.(1276-1278)CTG>GTG	p.L426V		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	426	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		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)		AAACAAAGGGCTGCAACTACG	0.517000												
ACSM2A	123876	broad.mit.edu	37	16	20497944	20497944	+	Nonsense_Mutation	SNP	C	C	T	rs144468742	byFrequency	TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr16:20497944C>T	uc010bwe.2	+	15	1917	c.1678C>T	c.(1678-1680)CGA>TGA	p.R560*	ACSM2A_uc002dhf.3_Nonsense_Mutation_p.R560*|ACSM2A_uc002dhg.3_Nonsense_Mutation_p.R560*|ACSM2A_uc010vay.1_Nonsense_Mutation_p.R481*|ACSM2A_uc002dhh.3_Nonsense_Mutation_p.R190*|uc002dhi.1_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	560					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						GAAAATTCAACGAGCCAAGCT	0.473000												
MYH3	4621	broad.mit.edu	37	17	10546195	10546195	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr17:10546195G>A	uc002gmq.1	-	14	1606	c.1529C>T	c.(1528-1530)ACG>ATG	p.T510M		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	510	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						GTCAATGAACGTCCACTCGAT	0.507000												
CPAMD8	27151	broad.mit.edu	37	19	17025586	17025586	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr19:17025586G>A	uc002nfb.2	-	28	3840	c.3808C>T	c.(3808-3810)CGC>TGC	p.R1270C		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1223						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						ATAAAGCTGCGAGCCTGTGCG	0.423000												
CAPN12	147968	broad.mit.edu	37	19	39228254	39228254	+	Silent	SNP	G	G	C			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr19:39228254G>C	uc002ojd.1	-	9	1299	c.990C>G	c.(988-990)CTC>CTG	p.L330L	CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	330	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TGTCGAAATGGAGGAGGAAGT	0.687000												
ZNF283	284349	broad.mit.edu	37	19	44351768	44351768	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr19:44351768A>G	uc002oxr.3	+	7	1283	c.1015A>G	c.(1015-1017)ATA>GTA	p.I339V	ZNF283_uc002oxp.3_Missense_Mutation_p.I200V	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	339	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TAAACATGAGATAATTCATAC	0.393000												
ZNF530	348327	broad.mit.edu	37	19	58117777	58117777	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr19:58117777A>C	uc002qpk.2	+	3	1104	c.884A>C	c.(883-885)TAT>TCT	p.Y295S	ZNF547_uc002qpm.3_Missense_Mutation_p.M278L|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	295	C2H2-type 3.				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;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAAAGGCCTTATGACTGCAGT	0.438000												
WDR35	57539	broad.mit.edu	37	2	20135333	20135333	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr2:20135333G>A	uc002rdi.2	-	22	2587	c.2479C>T	c.(2479-2481)CGG>TGG	p.R827W	WDR35_uc002rdj.2_Missense_Mutation_p.R816W|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Missense_Mutation_p.R392W|WDR35_uc002rdk.3_Missense_Mutation_p.R392W	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	827										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGGTTCCGTCCTTGTACA	0.358000												
NRXN1	9378	broad.mit.edu	37	2	50724576	50724576	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr2:50724576G>T	uc010fbq.2	-	14	4371	c.2894C>A	c.(2893-2895)ACT>AAT	p.T965N	NRXN1_uc002rxb.3_Missense_Mutation_p.T597N|NRXN1_uc002rxe.3_Missense_Mutation_p.T925N|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					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)			ATGCATAGAAGTGTAGGCTTG	0.398000												
TTN	7273	broad.mit.edu	37	2	179543553	179543553	+	Silent	SNP	A	A	G			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr2:179543553A>G	uc010zfg.1	-	140	30239	c.30015T>C	c.(30013-30015)CCT>CCC	p.P10005P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.P6666P|TTN_uc010fre.1_Silent_p.P662P|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10932							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)			TGGGCACTTCAGGAACTTCAA	0.418000												
COL3A1	1281	broad.mit.edu	37	2	189859318	189859318	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr2:189859318C>T	uc002uqj.1	+	19	1462	c.1345C>T	c.(1345-1347)CGC>TGC	p.R449C		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	449	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.R449C(1)		central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACGTGGTGAACGCGTAAGTTT	0.388000												
ZNF133	7692	broad.mit.edu	37	20	18297430	18297430	+	Silent	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr20:18297430G>A	uc010gcq.2	+	5	2240	c.1935G>A	c.(1933-1935)GGG>GGA	p.G645G	ZNF133_uc010zrv.1_Silent_p.G648G|ZNF133_uc010zrw.1_Silent_p.G582G|ZNF133_uc010gcr.2_Silent_p.G645G|ZNF133_uc010zrx.1_Silent_p.G550G|ZNF133_uc002wql.3_Silent_p.G644G|ZNF133_uc010gcs.2_Silent_p.G644G|ZNF133_uc010zry.1_Silent_p.G550G|ZNF133_uc002wqm.2_Silent_p.G645G	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	645						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						CGTGTGCAGGGCAACCTTCGG	0.532000												
KIAA0406	9675	broad.mit.edu	37	20	36624824	36624824	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr20:36624824A>C	uc002xhl.2	-	8	3248	c.3039T>G	c.(3037-3039)ATT>ATG	p.I1013M	KIAA0406_uc002xhm.2_Missense_Mutation_p.I1013M	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	1013							binding				0		Myeloproliferative disorder(115;0.00874)				CACTGAGGTAAATCAAGCAGG	0.463000												
DPM1	8813	broad.mit.edu	37	20	49565188	49565188	+	Silent	SNP	T	T	C			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr20:49565188T>C	uc002xvw.1	-	3	273	c.273A>G	c.(271-273)CCA>CCG	p.P91P	DPM1_uc002xvv.1_5'Flank|DPM1_uc002xvx.1_RNA	NM_003859	NP_003850	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase 1	91					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			ovary(1)	1						TTTTCTCTCGTGGTCTTAGAA	0.378000												
TSHZ2	128553	broad.mit.edu	37	20	51872838	51872838	+	Silent	SNP	T	T	G			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr20:51872838T>G	uc002xwo.2	+	2	3797	c.2841T>G	c.(2839-2841)TCT>TCG	p.S947S		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	947	C2H2-type 4.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			ACTTAGAATCTCACCTGGGTT	0.498000												
BACE2	25825	broad.mit.edu	37	21	42647386	42647386	+	Silent	SNP	C	C	T			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr21:42647386C>T	uc002yyw.2	+	9	1855	c.1392C>T	c.(1390-1392)AGC>AGT	p.S464S	BACE2_uc002yyx.2_Silent_p.S414S|BACE2_uc002yyy.2_3'UTR|BACE2_uc010goo.2_RNA	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	464	Extracellular (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGTCTTTGAGCGAGCCCATTT	0.547000												
ATP2C1	27032	broad.mit.edu	37	3	130698260	130698260	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr3:130698260A>G	uc003enl.2	+	19	1960	c.1738A>G	c.(1738-1740)ATC>GTC	p.I580V	ATP2C1_uc011blg.1_Missense_Mutation_p.I614V|ATP2C1_uc011blh.1_Missense_Mutation_p.I575V|ATP2C1_uc011bli.1_Missense_Mutation_p.I614V|ATP2C1_uc003enk.2_Missense_Mutation_p.I564V|ATP2C1_uc003enm.2_Missense_Mutation_p.I580V|ATP2C1_uc003enn.2_Missense_Mutation_p.I564V|ATP2C1_uc003eno.2_Missense_Mutation_p.I580V|ATP2C1_uc003enp.2_Missense_Mutation_p.I580V|ATP2C1_uc003enq.2_Missense_Mutation_p.I580V|ATP2C1_uc003enr.2_Missense_Mutation_p.I580V|ATP2C1_uc003ens.2_Missense_Mutation_p.I580V|ATP2C1_uc003ent.2_Missense_Mutation_p.I580V|ATP2C1_uc003enu.2_Missense_Mutation_p.I258V	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	580	Cytoplasmic (By similarity).		I -> V (in HDD; unable to undergo conformational change necessary for ion transport).		actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TGCAGTTGCAATCGGTATAAC	0.343000									Hailey-Hailey_disease			
GRID2	2895	broad.mit.edu	37	4	94436498	94436498	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr4:94436498G>A	uc011cdt.1	+	13	2387	c.2129G>A	c.(2128-2130)CGG>CAG	p.R710Q	GRID2_uc011cdu.1_Missense_Mutation_p.R615Q	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	710	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAAATGTGGCGGATGATCAAC	0.473000												
MTRR	4552	broad.mit.edu	37	5	7869264	7869264	+	Silent	SNP	G	G	T			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr5:7869264G>T	uc003jed.2	+	1	48	c.18G>T	c.(16-18)GTG>GTT	p.V6V	FASTKD3_uc011cmp.1_5'Flank|FASTKD3_uc003jeb.2_5'Flank|FASTKD3_uc003jec.2_5'Flank|MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_5'UTR|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	6					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTGCGTCAGTGCGCGCTGGCG	0.672000												
HMGCS1	3157	broad.mit.edu	37	5	43294196	43294196	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr5:43294196G>C	uc003jnr.3	-	8	1352	c.1145C>G	c.(1144-1146)ACT>AGT	p.T382S	HMGCS1_uc003jnp.3_Missense_Mutation_p.T63S|HMGCS1_uc003jnq.3_Missense_Mutation_p.T382S	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN	hydroxymethylglutaryl-CoA synthase 1	382					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity				0						AGAGTACAGAGTGGCAGCCAA	0.373000												
PCDHGA10	56106	broad.mit.edu	37	5	140792994	140792994	+	Silent	SNP	C	C	T			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr5:140792994C>T	uc003lkl.1	+	1	252	c.252C>T	c.(250-252)CGC>CGT	p.R84R	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_uc011day.1_Silent_p.R84R	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	84	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACCCGCGCAGCGGCAGCT	0.627000												
SPRY4	81848	broad.mit.edu	37	5	141694444	141694444	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr5:141694444G>A	uc003lml.2	-	2	489	c.230C>T	c.(229-231)ACG>ATG	p.T77M	SPRY4_uc010jgi.1_Missense_Mutation_p.T100M	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 2	77					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)			GCGGGCGGGCGTCGGGGCCAG	0.657000									Testicular_Cancer_Familial_Clustering_of			
FAT2	2196	broad.mit.edu	37	5	150934214	150934214	+	Silent	SNP	C	C	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr5:150934214C>A	uc003lue.3	-	4	3667	c.3654G>T	c.(3652-3654)GGG>GGT	p.G1218G	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1218	Extracellular (Potential).|Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGAGGGTTCCCCATTGTCCA	0.488000												
NOTCH4	4855	broad.mit.edu	37	6	32172008	32172008	+	Silent	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr6:32172008G>A	uc003obb.2	-	19	3163	c.3024C>T	c.(3022-3024)GAC>GAT	p.D1008D	NOTCH4_uc003oba.2_5'Flank|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1008	Extracellular (Potential).|EGF-like 26.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						CCAGACACTCGTCCACGTCTC	0.607000												
GJA10	84694	broad.mit.edu	37	6	90605698	90605698	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr6:90605698C>G	uc011eaa.1	+	1	1511	c.1511C>G	c.(1510-1512)CCT>CGT	p.P504R		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10	504	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TTTCTTTTTCCTTTCTTTCTT	0.428000												
PTPRK	5796	broad.mit.edu	37	6	128298175	128298175	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr6:128298175T>A	uc003qbk.2	-	26	4100	c.3733A>T	c.(3733-3735)ATC>TTC	p.I1245F	PTPRK_uc003qbj.2_Missense_Mutation_p.I1246F|PTPRK_uc010kfc.2_Missense_Mutation_p.I1252F|PTPRK_uc011ebu.1_Missense_Mutation_p.I1268F	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)		TGTGTGACGATGAAAGCAGCT	0.383000												
MAP3K4	4216	broad.mit.edu	37	6	161470483	161470483	+	Silent	SNP	C	C	T			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr6:161470483C>T	uc003qtn.2	+	3	1321	c.1179C>T	c.(1177-1179)CTC>CTT	p.L393L	MAP3K4_uc010kkc.1_Silent_p.L393L|MAP3K4_uc003qto.2_Silent_p.L393L|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	393					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGCAGGCACTCTGTTTGTGGT	0.408000												
PEG10	23089	broad.mit.edu	37	7	94293463	94293463	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr7:94293463G>A	uc011kie.1	+	2	1040	c.823G>A	c.(823-825)GAG>AAG	p.E275K		NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1	199	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GGATTGGAACGAGCCTGCGCT	0.582000												
TEX15	56154	broad.mit.edu	37	8	30695201	30695201	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr8:30695201A>T	uc003xil.2	-	3	7450	c.7450T>A	c.(7450-7452)TCC>ACC	p.S2484T		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2484										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGATCTGGGGAATTTTTAAGA	0.413000												
OSGIN2	734	broad.mit.edu	37	8	90937575	90937575	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr8:90937575G>A	uc003yeg.2	+	6	1679	c.1333G>A	c.(1333-1335)GAA>AAA	p.E445K	OSGIN2_uc003yeh.2_Missense_Mutation_p.E489K	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	445					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TAATCCTGTGGAAATAGATAC	0.403000												
VPS13B	157680	broad.mit.edu	37	8	100673652	100673652	+	Silent	SNP	A	A	T			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr8:100673652A>T	uc003yiv.2	+	35	6165	c.6054A>T	c.(6052-6054)ATA>ATT	p.I2018I	VPS13B_uc003yiw.2_Silent_p.I1993I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2018					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGGAGAAATAGACAGCAAAA	0.373000												
ZFPM2	23414	broad.mit.edu	37	8	106815406	106815406	+	Silent	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr8:106815406G>A	uc003ymd.2	+	8	3119	c.3096G>A	c.(3094-3096)CTG>CTA	p.L1032L	ZFPM2_uc011lhs.1_Silent_p.L763L	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	1032					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGATTCTCTGCCATTGTTGC	0.458000												
CSMD3	114788	broad.mit.edu	37	8	114186043	114186043	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr8:114186043G>A	uc003ynu.2	-	4	776	c.617C>T	c.(616-618)ACT>ATT	p.T206I	CSMD3_uc003ynt.2_Missense_Mutation_p.T166I|CSMD3_uc011lhx.1_Missense_Mutation_p.T206I|CSMD3_uc010mcx.1_Missense_Mutation_p.T206I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	206	Extracellular (Potential).|Sushi 1.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GATGTATCCAGTTACACAGCT	0.468000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
PUF60	22827	broad.mit.edu	37	8	144902846	144902846	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr8:144902846G>A	uc003yzs.2	-	5	402	c.338C>T	c.(337-339)CCT>CTT	p.P113L	PUF60_uc003yzr.2_Intron|PUF60_uc003yzt.2_Intron|PUF60_uc003yzq.2_Missense_Mutation_p.P70L|PUF60_uc003yzu.1_Missense_Mutation_p.P102L	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	113	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGATTGCAAAGGTGAGAGAGG	0.552000												
GSN	2934	broad.mit.edu	37	9	124094717	124094717	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr9:124094717C>T	uc004blf.1	+	17	2246	c.2185C>T	c.(2185-2187)CGG>TGG	p.R729W	GSN_uc004bld.1_Missense_Mutation_p.R678W|GSN_uc010mvq.1_Missense_Mutation_p.R689W|GSN_uc010mvr.1_Missense_Mutation_p.R689W|GSN_uc010mvu.1_Missense_Mutation_p.R678W|GSN_uc010mvt.1_Missense_Mutation_p.R678W|GSN_uc010mvs.1_Missense_Mutation_p.R678W|GSN_uc004ble.1_Missense_Mutation_p.R678W|GSN_uc010mvv.1_Missense_Mutation_p.R678W|GSN_uc011lyh.1_Missense_Mutation_p.R695W|GSN_uc011lyi.1_Missense_Mutation_p.R678W|GSN_uc011lyj.1_Missense_Mutation_p.R702W	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	729	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						TGCAGCTAAGCGGTACATCGA	0.572000											OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LAMC3	10319	broad.mit.edu	37	9	133948214	133948214	+	Missense_Mutation	SNP	G	G	A	rs149766298	byFrequency	TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr9:133948214G>A	uc004caa.1	+	19	3507	c.3409G>A	c.(3409-3411)GCG>ACG	p.A1137T		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1137	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGCCATTCTCGCGTCTCTGGT	0.443000												
BAT2L1	84726	broad.mit.edu	37	9	134319661	134319661	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr9:134319661G>C	uc004can.3	+	5	614	c.559G>C	c.(559-561)GAA>CAA	p.E187Q	BAT2L1_uc004cam.1_Missense_Mutation_p.E187Q	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	187							protein binding				0						GGCTGGCAAAGAAAAGGGCGT	0.547000												
BAT2L1	84726	broad.mit.edu	37	9	134319676	134319676	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr9:134319676G>A	uc004can.3	+	5	629	c.574G>A	c.(574-576)GAT>AAT	p.D192N	BAT2L1_uc004cam.1_Missense_Mutation_p.D192N	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	192							protein binding				0						GGGCGTCTTAGATCTGTCGTA	0.557000												
SHARPIN	81858	broad.mit.edu	37	8	145154720	145154720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr8:145154720delG	uc003zba.2	-	4	1029	c.545delC	c.(544-546)GCTfs	p.A182fs	SHARPIN_uc003zbb.2_RNA	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	shank-interacting protein-like 1	182	Interaction with SHANK1 (By similarity).				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			ovary(1)	1	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCTGCAATAGCCCGGGCCAG	0.642												
NUDT17	200035	broad.mit.edu	37	1	145588424	145588424	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr1:145588423_145588423GT>G	uc001eoe.3	-	3	458	c.450_450AC>C	c.(448-450)cacfs	p.H150fs		NM_001012758	NP_001012776	P0C025	NUD17_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 17 (NUDT17), mRNA.	150	Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGGGGCAGGTGTAGTCCAC	0.582											OREG0013751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCDHGC5	56097	broad.mit.edu	37	5	140768803	140768804	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr5:140768802_140768803TCA>T	uc003lkc.2	+	0	1351_1352	c.1351_1352TCA>T	c.(1351-1353)tcafs	p.S451fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	455	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGTTTTCTCACAGTCTTCC	0.545												
MUC6	4588	broad.mit.edu	37	11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr11:1016411_1016413TGAG>T	uc001lsw.2	-	30	6439_6441	c.6388_6390CTCA>A	c.(6388-6390)tca>A	p.S2130del		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2130	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.S2130delS(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGAGAAAATGAGGAGGACAGC	0.522												
MUC6	4588	broad.mit.edu	37	11	1017246	1017251	+	In_Frame_Del	DEL	GTACTT	GTACTT	-	rs71472140		TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr11:1017245_1017250AGTACTT>A	uc001lsw.2	-	30	5602_5607	c.5551_5556AAGTACT>T	c.(5551-5556)agtact>T	p.ST1851del		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1851	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACCGTGTGAGTACTTGGAGTCACC	0.544												
ORAI1	84876	broad.mit.edu	37	12	122078977	122078982	+	In_Frame_Del	DEL	GACCAC	GACCAC	-			TCGA-CG-4475-01A-01D-1158-08	TCGA-CG-4475-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11c7c6f-b094-4085-9982-f59dc50a8d5b	5977bd46-27a4-4c94-9ad2-7c6cc053d322	g.chr12:122078976_122078981TGACCAC>T	uc021rff.1	+	1	532_537	c.339_344TGACCAC>T	c.(337-345)gctgaccac>gcTc	p.DH114del		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA.	112					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		AGCTGGACGCTGACCACGACTACCCA	0.631