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	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
RCC2	55920	broad.mit.edu	37	1	17743045	17743045	+	Silent	SNP	C	C	T	rs11588635	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:17743045C>T	uc001bal.2	-	7	1004	c.957G>A	c.(955-957)ACG>ACA	p.T319T	RCC2_uc001bam.2_Silent_p.T319T	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	319	RCC1 4.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GTCCATCTTTCGTCTTCTCAA	0.547		NA											7	99					0	0	0	0
PHC2	1912	broad.mit.edu	37	1	33820075	33820075	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:33820075C>T	uc001bxg.1	-	8	1536	c.1482G>A	c.(1480-1482)CAG>CAA	p.Q494Q	PHC2_uc001bxh.1_Silent_p.Q466Q|PHC2_uc009vuh.1_Silent_p.Q495Q	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	494					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGACAATAGCCTGCTGATGTG	0.607		NA											43	63					0	0	0	0
DMRTB1	63948	broad.mit.edu	37	1	53925281	53925281	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:53925281C>A	uc001cvq.1	+	1	210	c.155C>A	c.(154-156)GCG>GAG	p.A52E		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	52	DM.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						ATCATGGCCGCGCAGAAGGTG	0.637		NA											4	8					0.00909568	0.00951273	1	0
SSX2IP	117178	broad.mit.edu	37	1	85135504	85135504	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:85135504T>C	uc001dkh.2	-	5	561	c.286A>G	c.(286-288)ATA>GTA	p.I96V	SSX2IP_uc001dkf.2_Missense_Mutation_p.I69V|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.I69V|SSX2IP_uc001dki.2_Missense_Mutation_p.I96V|SSX2IP_uc010osa.1_Missense_Mutation_p.I69V|SSX2IP_uc001dkj.2_Missense_Mutation_p.I96V|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.I92V	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	96					cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACAGCTACTATATTTAACTCT	0.368		NA											67	107					0	0	0	0
SH3GLB1	51100	broad.mit.edu	37	1	87188228	87188228	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:87188228G>A	uc001dlw.2	+	4	675	c.349G>A	c.(349-351)GCC>ACC	p.A117T	SH3GLB1_uc001dlx.2_Missense_Mutation_p.A117T|SH3GLB1_uc001dly.2_Missense_Mutation_p.A117T|SH3GLB1_uc001dlz.2_Missense_Mutation_p.A17T	NM_016009	NP_057093	Q9Y371	SHLB1_HUMAN	SH3-containing protein SH3GLB1	117	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding				0		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TGCAGGTAATGCCCTTATTAA	0.308		NA											32	189					0	0	0	0
CDC14A	8556	broad.mit.edu	37	1	100964649	100964649	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:100964649C>T	uc001dtg.3	+	15	2074	c.1586C>T	c.(1585-1587)CCT>CTT	p.P529L	CDC14A_uc010oui.1_Missense_Mutation_p.P471L|CDC14A_uc001dtf.2_Missense_Mutation_p.P529L|CDC14A_uc009wed.1_Missense_Mutation_p.P236L|CDC14A_uc009wee.2_Missense_Mutation_p.P529L	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	529					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AGAAATTACCCTGAGCTCAAC	0.547		NA											33	52					0	0	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999521	112999521	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:112999521A>T	uc001ebx.2	+	6	1635	c.1407A>T	c.(1405-1407)CAA>CAT	p.Q469H	CTTNBP2NL_uc001ebz.2_RNA	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	469						actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCAGTCCCAAGCAGATCAGG	0.552		NA											32	123					0	0	0	0
CASQ2	845	broad.mit.edu	37	1	116280898	116280899	+	Missense_Mutation	DNP	CG	CG	GA			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:116280898_116280899CG>GA	uc001efx.3	-	4	742_743	c.478_479CG>TC	c.(478-480)CGC>TCC	p.R160S	CASQ2_uc010owu.1_Intron	NM_001232	NP_001223	O14958	CASQ2_HUMAN	cardiac calsequestrin 2 precursor	160					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-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)		GTCTTCAATGCGTTCGAAGGCT	0.446		NA											105	211					0	0	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293541	145293541	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:145293541C>G	uc001end.3	+	1	171	c.136C>G	c.(136-138)CAA>GAA	p.Q46E	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.Q46E|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Missense_Mutation_p.Q46E	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	46											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTTCTAACTCAACTGGCCGG	0.448		NA											20	541					0	0	0	0
GON4L	54856	broad.mit.edu	37	1	155747430	155747430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:155747430G>A	uc001flz.2	-	15	2171	c.2074C>T	c.(2074-2076)CAG>TAG	p.Q692*	GON4L_uc001fly.1_Nonsense_Mutation_p.Q692*|GON4L_uc009wrh.1_Nonsense_Mutation_p.Q692*|GON4L_uc001fma.1_Nonsense_Mutation_p.Q692*|GON4L_uc001fmb.3_5'Flank|GON4L_uc001fmc.2_Nonsense_Mutation_p.Q692*|GON4L_uc001fmd.3_Nonsense_Mutation_p.Q692*|GON4L_uc009wri.2_Nonsense_Mutation_p.Q278*|GON4L_uc009wrj.1_Nonsense_Mutation_p.Q207*|GON4L_uc001fme.2_Nonsense_Mutation_p.Q520*	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	692					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATCTGCTGCTGGAGTCTCTTC	0.353		NA											91	165					0	0	0	0
OR10R2	343406	broad.mit.edu	37	1	158449897	158449897	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:158449897C>A	uc010pik.1	+	1	230	c.230C>A	c.(229-231)ACA>AAA	p.T77K	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	77	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					AGCCTCCACACACCAATGTAC	0.433		NA											189	345					1.41e-80	1.9e-80	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576337	158576337	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:158576337G>C	uc010pio.1	+	1	109	c.109G>C	c.(109-111)GTC>CTC	p.V37L		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	37	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V37I(1)		pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					TCTGTATCTAGTCACTCTGAC	0.498		NA											123	315					0	0	0	0
FCRLA	84824	broad.mit.edu	37	1	161681106	161681106	+	Missense_Mutation	SNP	G	G	A	rs145034072		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:161681106G>A	uc001gbe.2	+	4	652	c.410G>A	c.(409-411)CGA>CAA	p.R137Q	FCRLA_uc001gbd.2_Missense_Mutation_p.R131Q|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	114	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACCTTCTACCGAGATGGCTCA	0.592		NA											38	75					0	0	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668369	176668369	+	Silent	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:176668369G>T	uc001gkz.2	+	8	4044	c.2880G>T	c.(2878-2880)CCG>CCT	p.P960P	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	960					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						TCCAACACCCGGTCCAAGCCG	0.572		NA											91	281					1.19e-48	1.57e-48	1	0
FAM5B	57795	broad.mit.edu	37	1	177249786	177249786	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:177249786C>G	uc001glf.2	+	8	1786	c.1474C>G	c.(1474-1476)CGG>GGG	p.R492G	FAM5B_uc001glg.2_Missense_Mutation_p.R387G	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	492						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GGGGCTGTGCCGGCCAGAGGT	0.622		NA											40	50					0	0	0	0
CFHR2	3080	broad.mit.edu	37	1	196928027	196928027	+	Silent	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:196928027A>G	uc001gtq.1	+	5	707	c.630A>G	c.(628-630)TCA>TCG	p.S210S	CFHR2_uc001gtr.1_Silent_p.S86S	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3 precursor	210	Sushi 4.					extracellular region				skin(2)|ovary(1)	3						GTGTAATATCACAAGAAATTA	0.274		NA											41	75					0	0	0	0
JMJD4	65094	broad.mit.edu	37	1	227921284	227921284	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:227921284G>A	uc001hrb.2	-	4	791	c.791C>T	c.(790-792)GCC>GTC	p.A264V	SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|LOC100130093_uc001hqx.3_RNA|LOC100130093_uc001hqy.3_RNA|JMJD4_uc001hrc.2_Missense_Mutation_p.A264V	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4 isoform 1	264	JmjC.										0		Prostate(94;0.0885)				GTCCCGCAGGGCCTCTTCCTG	0.637		NA											4	30					0	0	0	0
TRIM67	440730	broad.mit.edu	37	1	231349664	231349664	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:231349664G>A	uc009xfn.1	+	9	2269	c.2227G>A	c.(2227-2229)GCC>ACC	p.A743T		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	743	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGGCCCCACAGCCTTCAGCCA	0.652		NA											30	42					0	0	0	0
OR2T1	26696	broad.mit.edu	37	1	248570029	248570029	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:248570029A>G	uc010pzm.1	+	1	734	c.734A>G	c.(733-735)TAC>TGC	p.Y245C		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	245	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	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)			ACAGCCCTCTACGAGACAGTG	0.493		NA											78	86					0	0	0	0
ZWINT	11130	broad.mit.edu	37	10	58120976	58120976	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr10:58120976C>T	uc001jjx.1	-	1	59	c.22G>A	c.(22-24)GCG>ACG	p.A8T	ZWINT_uc001jjy.1_Missense_Mutation_p.A8T|ZWINT_uc001jka.1_Missense_Mutation_p.A8T|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	8					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0						GCAGCTTCCGCCTCTGTCTCC	0.597		NA											10	13					0	0	0	0
ENTPD1	953	broad.mit.edu	37	10	97583051	97583051	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr10:97583051C>A	uc001klh.3	+	2	398	c.74C>A	c.(73-75)TCT>TAT	p.S25Y	ENTPD1_uc001kle.1_Missense_Mutation_p.S32Y|ENTPD1_uc001kli.3_Missense_Mutation_p.S32Y|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.S37Y|ENTPD1_uc010qok.1_Intron|ENTPD1_uc010qol.1_Intron|ENTPD1_uc010qom.1_Missense_Mutation_p.S25Y|ENTPD1_uc010qon.1_5'UTR|ENTPD1_uc009xva.2_5'UTR|ENTPD1_uc009xuz.2_RNA	NM_001776	NP_001767	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	25	Helical; (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGCTTCTCCTCTATCATAGCT	0.393		NA											66	79					1.17e-29	1.5e-29	1	0
OR56A1	120796	broad.mit.edu	37	11	6048184	6048184	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:6048184G>T	uc010qzw.1	-	1	751	c.751C>A	c.(751-753)CAC>AAC	p.H251N		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATGAAGTGGGAGCCACAT	0.493		NA											34	35					3.04e-20	3.77e-20	1	0
ABCC8	6833	broad.mit.edu	37	11	17434265	17434265	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:17434265T>A	uc001mnc.2	-	21	2630	c.2504A>T	c.(2503-2505)CAG>CTG	p.Q835L		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	835	ABC transporter 1.|Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACTGATTCGCTGGCGTTGACC	0.537		NA											6	12					0	0	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137138	40137138	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:40137138C>A	uc001mxa.1	-	2	2669	c.705G>T	c.(703-705)AGG>AGT	p.R235S	LRRC4C_uc001mxc.1_Missense_Mutation_p.R231S|LRRC4C_uc001mxd.1_Missense_Mutation_p.R231S|LRRC4C_uc001mxb.1_Missense_Mutation_p.R231S	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	235	LRR 7.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGAGCCAGGCCTGATGGCAG	0.463		NA											29	151					2.66e-16	3.22e-16	1	0
OR4C3	256144	broad.mit.edu	37	11	48346805	48346805	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:48346805A>G	uc010rhv.1	+	1	313	c.313A>G	c.(313-315)AAA>GAA	p.K105E		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	78	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TATGGCTCCTAAACTCATTGC	0.463		NA											15	313					0	0	0	0
OR5D14	219436	broad.mit.edu	37	11	55563331	55563331	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:55563331G>T	uc010rim.1	+	1	300	c.300G>T	c.(298-300)ATG>ATT	p.M100I		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	100	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)				TTAGCTGCATGATGCAGTACT	0.458		NA											43	110					1.03e-14	1.24e-14	1	0
GIF	2694	broad.mit.edu	37	11	59603312	59603312	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:59603312C>G	uc001noi.2	-	7	1090	c.1042G>C	c.(1042-1044)GAG>CAG	p.E348Q		NM_005142	NP_005133	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	348					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			ovary(1)|liver(1)	2						TGTGCTTCCTCTAGGACAACA	0.413		NA											106	292					0	0	0	0
AHNAK	79026	broad.mit.edu	37	11	62294809	62294809	+	Silent	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:62294809T>C	uc001ntl.2	-	5	7380	c.7080A>G	c.(7078-7080)GTA>GTG	p.V2360V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2360					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CTTCCACAGCTACTTCTGGCA	0.453		NA											112	384					0	0	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293827	71293827	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:71293827G>A	uc001oqu.2	-	1	95	c.57C>T	c.(55-57)TCC>TCT	p.S19S		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	19						keratin filament					0						CCCCACTGCCGGAGCCACAGC	0.632		NA											22	45					0	0	0	0
ST14	6768	broad.mit.edu	37	11	130058529	130058529	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:130058529C>T	uc001qfw.2	+	3	539	c.346C>T	c.(346-348)CTG>TTG	p.L116L	ST14_uc010sca.1_5'Flank	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	116	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GTTTGTAAGCCTGGCCAGCAA	0.572		NA											54	57					0	0	0	0
GLB1L3	112937	broad.mit.edu	37	11	134153634	134153634	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:134153634G>C	uc009zdf.2	+	6	891	c.531G>C	c.(529-531)TGG>TGC	p.W177C	GLB1L3_uc010scs.1_Missense_Mutation_p.W177C|GLB1L3_uc010sct.1_Missense_Mutation_p.W29C	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	177					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCCCCAGCTGGCTCCTGCAAG	0.592		NA											7	8					0	0	0	0
KLRG1	10219	broad.mit.edu	37	12	9162052	9162052	+	Nonsense_Mutation	SNP	C	C	A	rs145154967		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:9162052C>A	uc001qvh.2	+	5	500	c.489C>A	c.(487-489)TGC>TGA	p.C163*	KLRG1_uc001qvg.2_Nonsense_Mutation_p.C163*	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G,	163	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			central_nervous_system(1)	1						TGCAGACATGCGGTGCCATCA	0.433		NA											38	92					2.04e-09	2.34e-09	1	0
LDHB	3945	broad.mit.edu	37	12	21791345	21791345	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:21791345T>C	uc001rfc.2	-	5	673	c.655A>G	c.(655-657)ATG>GTG	p.M219V	LDHB_uc001rfd.2_Missense_Mutation_p.M219V|LDHB_uc001rfe.2_Missense_Mutation_p.M219V	NM_002300	NP_002291	P07195	LDHB_HUMAN	L-lactate dehydrogenase B	219					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|ovary(1)	3					NADH(DB00157)	TCAGTTCCCATTTCTGGATTC	0.358		NA											57	122					0	0	0	0
KIAA0528	9847	broad.mit.edu	37	12	22637814	22637814	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:22637814T>A	uc001rfq.2	-	13	1595	c.1367A>T	c.(1366-1368)GAA>GTA	p.E456V	KIAA0528_uc010sir.1_Missense_Mutation_p.E271V|KIAA0528_uc010sis.1_Missense_Mutation_p.E456V|KIAA0528_uc010sit.1_Missense_Mutation_p.E458V|KIAA0528_uc010siu.1_Missense_Mutation_p.E456V|KIAA0528_uc001rfr.2_Missense_Mutation_p.E447V|KIAA0528_uc009ziy.1_Missense_Mutation_p.E458V	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	456							protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						AGGCAAATTTTCTTCAAGCCt	0.264		NA											34	32					0	0	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472679	47472679	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:47472679C>G	uc001rpm.2	-	3	762	c.107G>C	c.(106-108)GGT>GCT	p.G36A	FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.G36A|AMIGO2_uc001rpl.2_Missense_Mutation_p.G36A	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	36					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				ovary(1)|skin(1)	2	Renal(347;0.138)|Lung SC(27;0.192)					CCCAGAGGCACCAGGGCCCAC	0.587		NA											47	104					0	0	0	0
PTPRR	5801	broad.mit.edu	37	12	71158499	71158499	+	Silent	SNP	T	T	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:71158499T>G	uc001swi.1	-	3	833	c.417A>C	c.(415-417)GGA>GGC	p.G139G	PTPRR_uc010stq.1_Silent_p.G27G	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	139	Extracellular (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTGCAGCCACTCCTTGGCGGA	0.408		NA											63	91					0	0	0	0
ACSS3	79611	broad.mit.edu	37	12	81472119	81472119	+	Nonsense_Mutation	SNP	G	G	T	rs144134515		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:81472119G>T	uc001szl.1	+	1	311	c.220G>T	c.(220-222)GAG>TAG	p.E74*	ACSS3_uc001szm.1_Nonsense_Mutation_p.E74*	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	74						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						GACCGACCCCGAGAGGTTCTG	0.657		NA											12	64					9.05e-18	1.11e-17	1	0
VEZT	55591	broad.mit.edu	37	12	95660258	95660258	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:95660258T>A	uc001tdz.2	+	5	665	c.560T>A	c.(559-561)TTA>TAA	p.L187*	VEZT_uc009zsy.1_Nonsense_Mutation_p.L29*|VEZT_uc001tdr.2_Nonsense_Mutation_p.L29*|VEZT_uc001tds.2_Nonsense_Mutation_p.L139*|VEZT_uc001tdt.2_Nonsense_Mutation_p.L139*|VEZT_uc009zsz.1_Nonsense_Mutation_p.L187*|VEZT_uc001tdv.2_Nonsense_Mutation_p.L156*|VEZT_uc001tdw.1_Nonsense_Mutation_p.L139*|VEZT_uc009zta.1_Nonsense_Mutation_p.L139*	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	187						acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1						GCTTTGAGATTATGGAGGACA	0.428		NA											132	210					0	0	0	0
RFX4	5992	broad.mit.edu	37	12	107126787	107126787	+	Silent	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:107126787C>G	uc001tlr.2	+	15	1623	c.1557C>G	c.(1555-1557)GCC>GCG	p.A519A	RFX4_uc001tls.2_Silent_p.A528A|RFX4_uc001tlt.2_Silent_p.A528A|RFX4_uc001tlv.2_Silent_p.A425A	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	519					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1						CAAAATCTGCCACATCTGTGG	0.507		NA											74	122					0	0	0	0
KDM2B	84678	broad.mit.edu	37	12	121878774	121878774	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:121878774C>T	uc001uat.2	-	21	3559	c.3455G>A	c.(3454-3456)CGG>CAG	p.R1152Q	KDM2B_uc001uaq.2_Missense_Mutation_p.R592Q|KDM2B_uc010szy.1_Missense_Mutation_p.R592Q|KDM2B_uc001uar.2_Missense_Mutation_p.R743Q|KDM2B_uc001uas.2_Missense_Mutation_p.R1083Q|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.R400Q|KDM2B_uc010szx.1_Missense_Mutation_p.R400Q|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	1152	LRR 2.				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						CACCAAGTCCCGGAGCCCTGG	0.647		NA											14	66					0	0	0	0
PIWIL1	9271	broad.mit.edu	37	12	130851726	130851726	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:130851726T>G	uc001uik.2	+	19	2334	c.2244T>G	c.(2242-2244)TTT>TTG	p.F748L	PIWIL1_uc001uij.1_Missense_Mutation_p.F748L	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	748	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACACCAGATTTTTTGCTCAGT	0.408		NA											45	198					0	0	0	0
PCDH9	5101	broad.mit.edu	37	13	67799767	67799767	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr13:67799767C>A	uc001vik.2	-	2	3498	c.2806G>T	c.(2806-2808)GCC>TCC	p.A936S	PCDH9_uc001vil.2_Missense_Mutation_p.A936S|PCDH9_uc010thl.1_Missense_Mutation_p.A936S|PCDH9_uc001vin.3_Missense_Mutation_p.A936S	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	936	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAGTGCTTGGCCAGGTCAGGA	0.502		NA											67	88					5.26e-25	6.58e-25	1	0
SLITRK6	84189	broad.mit.edu	37	13	86369608	86369608	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr13:86369608G>A	uc001vll.1	-	2	1495	c.1036C>T	c.(1036-1038)CAT>TAT	p.H346Y	SLITRK6_uc010afe.1_Missense_Mutation_p.H111Y	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	346	Extracellular (Potential).|LRRNT 2.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCTGACAATGTATTAGAAGT	0.408		NA											70	97					0	0	0	0
OR4M1	441670	broad.mit.edu	37	14	20248817	20248817	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr14:20248817G>C	uc010tku.1	+	1	336	c.336G>C	c.(334-336)ATG>ATC	p.M112I		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	112	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCGGAGATGTTCTTGCTCA	0.478		NA											153	598					0	0	0	0
TEP1	7011	broad.mit.edu	37	14	20849089	20849089	+	Splice_Site	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr14:20849089C>T	uc001vxe.2	-	33	4802	c.4762_splice	c.e33+1	p.A1588_splice	TEP1_uc010ahk.2_Splice_Site_p.A931_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.A1480_splice|TEP1_uc010tlh.1_Splice_Site	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1						telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACTCATCTCACCATAGAGGGC	0.577		NA											23	70					0	0	0	0
GOLGA5	9950	broad.mit.edu	37	14	93277936	93277936	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr14:93277936G>A	uc001yaz.1	+	6	1339	c.1157G>A	c.(1156-1158)CGT>CAT	p.R386H		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	386	Cytoplasmic (Potential).|Potential.				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GAAATGGAACGTCAGAATTTA	0.358		NA	T	RET	papillary thyroid								42	120					0	0	0	0
RYR3	6263	broad.mit.edu	37	15	33936553	33936553	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:33936553C>A	uc001zhi.2	+	28	3668	c.3598C>A	c.(3598-3600)CGC>AGC	p.R1200S	RYR3_uc010bar.2_Missense_Mutation_p.R1200S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1200	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAGATCGGCCGCATGAATCT	0.517		NA											13	9					1.05e-09	1.21e-09	1	0
ACTC1	70	broad.mit.edu	37	15	35086967	35086967	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:35086967C>A	uc001ziu.1	-	2	286	c.43G>T	c.(43-45)GGC>TGC	p.G15C	uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	15					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGCCCAGAGCCGTTGTCGCAC	0.677		NA											61	59					2.79e-41	3.65e-41	1	0
ITPKA	3706	broad.mit.edu	37	15	41795316	41795316	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:41795316G>A	uc001znz.2	+	7	1349	c.1338G>A	c.(1336-1338)CTG>CTA	p.L446L		NM_002220	NP_002211	P23677	IP3KA_HUMAN	1D-myo-inositol-trisphosphate 3-kinase A	446					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCTATTTGCTGGGGCTGGACA	0.662		NA											19	16					0	0	0	0
ZFP106	64397	broad.mit.edu	37	15	42749328	42749328	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:42749328C>A	uc001zpw.2	-	1	411	c.76G>T	c.(76-78)GGG>TGG	p.G26W	ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Intron|ZFP106_uc001zpy.1_Missense_Mutation_p.G49W	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	26	C2H2-type 1; atypical.					nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TCTGTGACCCCGCACACTCGG	0.438		NA											19	52					4.97e-08	5.61e-08	1	0
THSD4	79875	broad.mit.edu	37	15	72023481	72023481	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:72023481C>A	uc002atb.1	+	9	1634	c.1555C>A	c.(1555-1557)CCA>ACA	p.P519T	THSD4_uc002atd.1_3'UTR|THSD4_uc010ukg.1_Missense_Mutation_p.P159T|THSD4_uc002ate.2_Missense_Mutation_p.P159T	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	519						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						GCAGCCAAACCCAGGCGTGCA	0.552		NA									OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	67					4.37e-10	5.03e-10	1	0
AKAP13	11214	broad.mit.edu	37	15	86260576	86260576	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:86260576G>A	uc002blv.1	+	21	5961	c.5791G>A	c.(5791-5793)GAC>AAC	p.D1931N	AKAP13_uc002blu.1_Missense_Mutation_p.D1935N|AKAP13_uc010bnf.1_Missense_Mutation_p.D552N|AKAP13_uc002blw.1_Missense_Mutation_p.D398N|AKAP13_uc002blx.1_Missense_Mutation_p.D176N	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	1931	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						TCATTCAACAGACTCACTAAA	0.378		NA											26	39					0	0	0	0
ZNF263	10127	broad.mit.edu	37	16	3340026	3340026	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:3340026G>A	uc002cuq.2	+	6	1852	c.1520G>A	c.(1519-1521)CGG>CAG	p.R507Q	ZNF263_uc010uww.1_Missense_Mutation_p.R155Q|ZNF263_uc002cur.2_Missense_Mutation_p.R155Q	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	507	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						AACCTCCTTCGGCACCAGAGA	0.522		NA											20	58					0	0	0	0
PDZD9	255762	broad.mit.edu	37	16	21995735	21995735	+	Silent	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:21995735C>A	uc002dka.1	-	5	779	c.462G>T	c.(460-462)GTG>GTT	p.V154V		NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	hypothetical protein LOC255762	216										pancreas(1)	1						AAGGGGCCCTCACTTCTTTCT	0.433		NA											164	349					6.73e-69	9.01e-69	1	0
VWA3A	146177	broad.mit.edu	37	16	22130326	22130326	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:22130326C>A	uc010vbq.1	+	12	1190	c.1094C>A	c.(1093-1095)GCG>GAG	p.A365E	VWA3A_uc010bxd.2_5'Flank|VWA3A_uc010bxc.2_Missense_Mutation_p.A352E	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	365						extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)		CCCTGTGAGGCGCTCACCTGC	0.612		NA											9	25					2.18e-05	2.36e-05	1	0
CDH5	1003	broad.mit.edu	37	16	66426206	66426206	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:66426206C>A	uc002eom.3	+	7	1293	c.1137C>A	c.(1135-1137)TTC>TTA	p.F379L	CDH5_uc002eon.1_Missense_Mutation_p.F379L	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	379	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TCTACCACTTCCAGCTGAAGG	0.552		NA											67	120					1.27e-28	1.61e-28	1	0
HYDIN	54768	broad.mit.edu	37	16	70852359	70852359	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:70852359C>T	uc002ezr.2	-	84	14669	c.14541G>A	c.(14539-14541)GCG>GCA	p.A4847A	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4848										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TGGAGGCTGACGCAACTTGCC	0.547		NA											12	15					0	0	0	0
SHPK	23729	broad.mit.edu	37	17	3526640	3526640	+	Missense_Mutation	SNP	C	C	A	rs111475678		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:3526640C>A	uc002fvz.1	-	4	743	c.640G>T	c.(640-642)GTA>TTA	p.V214L		NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	carbohydrate kinase-like	214					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			ovary(1)	1				COAD - Colon adenocarcinoma(5;0.0828)		CACGTCTCTACGTTCCAGCTT	0.557		NA											129	73					4.27e-56	5.68e-56	1	0
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:7577574T>C	uc002gim.2	-	7	901	c.707A>G	c.(706-708)TAC>TGC	p.Y236C	TP53_uc002gig.1_Missense_Mutation_p.Y236C|TP53_uc002gih.2_Missense_Mutation_p.Y236C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y104C|TP53_uc010cng.1_Missense_Mutation_p.Y104C|TP53_uc002gii.1_Missense_Mutation_p.Y104C|TP53_uc010cnh.1_Missense_Mutation_p.Y236C|TP53_uc010cni.1_Missense_Mutation_p.Y236C|TP53_uc002gij.2_Missense_Mutation_p.Y236C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y143C|TP53_uc002gio.2_Missense_Mutation_p.Y104C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	236	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Y -> S (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; 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.Y236C(46)|p.Y236N(12)|p.Y236*(9)|p.Y236H(9)|p.0?(7)|p.Y236D(6)|p.Y236del(4)|p.Y236S(3)|p.Y236Y(2)|p.Y236fs*4(2)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.Y236fs*5(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)		GTTACACATGTAGTTGTAGTG	0.572		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)			40	32					0	0	0	0
RNFT1	51136	broad.mit.edu	37	17	58040557	58040557	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:58040557G>A	uc002iya.2	-	2	238	c.145C>T	c.(145-147)CCA>TCA	p.P49S	uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.P49S|RNFT1_uc002iyd.3_Missense_Mutation_p.P49S	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	PTD016 protein	49						integral to membrane	zinc ion binding				0	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			CCAGTTCCTGGAGGACTGTGC	0.483		NA											81	67					0	0	0	0
FASN	2194	broad.mit.edu	37	17	80041948	80041948	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:80041948G>A	uc002kdu.2	-	29	5118	c.5001C>T	c.(4999-5001)CCC>CCT	p.P1667P	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1667	Enoyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCGTCTCCCCGGGGCGCACCC	0.721		NA											3	4					0	0	0	0
LAMA1	284217	broad.mit.edu	37	18	6999495	6999495	+	Missense_Mutation	SNP	G	G	A	rs149937004		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:6999495G>A	uc002knm.2	-	32	4706	c.4612C>T	c.(4612-4614)CGG>TGG	p.R1538W	LAMA1_uc010wzj.1_Missense_Mutation_p.R1014W	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1538	Laminin EGF-like 17.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCATCGCACCGGAGCCCCGAG	0.537		NA											7	31					0	0	0	0
CEP192	55125	broad.mit.edu	37	18	13069788	13069788	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:13069788A>T	uc010xac.1	+	27	5187	c.5107A>T	c.(5107-5109)AAA>TAA	p.K1703*	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Nonsense_Mutation_p.K1228*|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Nonsense_Mutation_p.K125*|CEP192_uc002krw.2_5'UTR	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1703										ovary(4)|pancreas(1)	5						TCTACTCCTTAAACCTGGAGA	0.338		NA											56	158					0	0	0	0
SMAD4	4089	broad.mit.edu	37	18	48604809	48604809	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:48604809C>T	uc010xdp.1	+	12	2169	c.1631C>T	c.(1630-1632)CCG>CTG	p.P544L	SMAD4_uc002lfb.3_Missense_Mutation_p.P389L	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	544	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CATACCATGCCGATTGCAGAC	0.463		NA							Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				6	139					0	0	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654402	61654402	+	Missense_Mutation	SNP	C	C	T	rs150328649	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:61654402C>T	uc002ljv.2	+	7	1184	c.1015C>T	c.(1015-1017)CGG>TGG	p.R339W	SERPINB8_uc002lju.2_Missense_Mutation_p.R339W|SERPINB8_uc010xex.1_Missense_Mutation_p.R157W	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	339		Reactive bond (By similarity).			regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				CAGGAATTCCCGGTGCAGCAG	0.532		NA											19	59					0	0	0	0
CDH7	1005	broad.mit.edu	37	18	63511092	63511092	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:63511092A>T	uc002ljz.2	+	7	1351	c.1026A>T	c.(1024-1026)GAA>GAT	p.E342D	CDH7_uc002lka.2_Missense_Mutation_p.E342D|CDH7_uc002lkb.2_Missense_Mutation_p.E342D	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	342	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				TACGGATAGAAGCTGCAAATA	0.443		NA											47	95					0	0	0	0
CDH7	1005	broad.mit.edu	37	18	63529970	63529970	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:63529970C>T	uc002ljz.2	+	11	2006	c.1681C>T	c.(1681-1683)CCA>TCA	p.P561S	CDH7_uc002lka.2_Missense_Mutation_p.P561S|CDH7_uc002lkb.2_Missense_Mutation_p.P561S	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	561	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				TTACTATCTGCCAATTTTCAT	0.498		NA											26	74					0	0	0	0
ZNF516	9658	broad.mit.edu	37	18	74154265	74154265	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:74154265G>A	uc010dqx.1	-	2	981	c.746C>T	c.(745-747)CCG>CTG	p.P249L	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	249	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CACCTCGCACGGGAACTCCCC	0.687		NA											16	34					0	0	0	0
SALL3	27164	broad.mit.edu	37	18	76754386	76754386	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:76754386G>A	uc002lmt.2	+	2	2395	c.2395G>A	c.(2395-2397)GAC>AAC	p.D799N	SALL3_uc010dra.2_Missense_Mutation_p.D406N	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	799				DDDMDE -> NDNLDK (in Ref. 2; CAB65124).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTACGATGACGACATGGACGA	0.662		NA											15	47					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9014654	9014654	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:9014654C>T	uc002mkp.2	-	31	38525	c.38321G>A	c.(38320-38322)CGT>CAT	p.R12774H	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12776	SEA 5.|Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGGGTCAAGACGGTGGGTGCA	0.567		NA											13	56					0	0	0	0
ICAM1	3383	broad.mit.edu	37	19	10394262	10394262	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:10394262T>A	uc002mnq.2	+	3	756	c.437T>A	c.(436-438)CTC>CAC	p.L146H	ICAM1_uc010xle.1_Intron	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	146	Ig-like C2-type 2.|Extracellular (Potential).				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CGGGCCAACCTCACCGTGGTG	0.667		NA											8	50					0	0	0	0
MYO9B	4650	broad.mit.edu	37	19	17283733	17283733	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:17283733G>A	uc010eak.2	+	13	2253	c.2101G>A	c.(2101-2103)GCC>ACC	p.A701T	MYO9B_uc002nfi.2_Missense_Mutation_p.A701T|MYO9B_uc002nfj.1_Missense_Mutation_p.A701T	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	701	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						GCTTCGGGAGGCCGGACGCCT	0.687		NA											4	33					0	0	0	0
UPF1	5976	broad.mit.edu	37	19	18958606	18958606	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:18958606A>G	uc002nkg.2	+	3	700	c.425A>G	c.(424-426)AAG>AGG	p.K142R	UPF1_uc002nkf.2_Missense_Mutation_p.K142R	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	142	C2H2-type; atypical.|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						ACCAGCAAGAAGTGGTTCTGC	0.428		NA									OREG0025373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	99					0	0	0	0
LGALS7B	653499	broad.mit.edu	37	19	39281521	39281521	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:39281521C>T	uc002ojf.3	+	3	305	c.288C>T	c.(286-288)GAC>GAT	p.D96D		NM_001042507	NP_001035972	P47929	LEG7_HUMAN	galectin-7B	96	Galectin.				apoptosis|heterophilic cell-cell adhesion	cytoplasm|extracellular space|nucleus	sugar binding				0						CGTCAGACGACGGCTTCAAGG	0.657		NA											5	14					0	0	0	0
FBL	2091	broad.mit.edu	37	19	40327295	40327295	+	Silent	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:40327295C>A	uc002omn.2	-	7	810	c.696G>T	c.(694-696)GTG>GTT	p.V232V	DYRK1B_uc002omi.2_5'Flank|DYRK1B_uc002omj.2_5'Flank|DYRK1B_uc002omk.2_5'Flank|DYRK1B_uc002oml.2_5'Flank|FBL_uc002omm.1_Silent_p.V146V|FBL_uc002omo.2_Silent_p.V231V	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	232					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CAGCAAAGATCACATCCACCA	0.537		NA											21	37					2.38e-13	2.82e-13	1	0
KCNC3	3748	broad.mit.edu	37	19	50826517	50826517	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:50826517G>A	uc002pru.1	-	2	1988	c.1693C>T	c.(1693-1695)CGG>TGG	p.R565W	KCNC3_uc002prt.1_Missense_Mutation_p.R201W	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Shaw-related voltage-gated potassium channel	565	Cytoplasmic (Potential).				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		TGCGGGGGCCGGGGGATGTGT	0.662		NA											16	8					0	0	0	0
ZNF419	79744	broad.mit.edu	37	19	58005043	58005043	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:58005043G>A	uc002qov.2	+	5	1358	c.1118G>A	c.(1117-1119)TGC>TAC	p.C373Y	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.C374Y|ZNF419_uc010etz.1_Missense_Mutation_p.C361Y|ZNF419_uc010eua.1_Missense_Mutation_p.C360Y|ZNF419_uc002qow.2_Missense_Mutation_p.C341Y|ZNF419_uc010eub.1_Missense_Mutation_p.C328Y|ZNF419_uc010euc.1_Missense_Mutation_p.C327Y	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	373	C2H2-type 7.				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)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CCTTACAAGTGCAGCGACTGT	0.413		NA											61	98					0	0	0	0
TTC27	55622	broad.mit.edu	37	2	32891707	32891707	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:32891707T>A	uc002rom.2	+	7	1042	c.811T>A	c.(811-813)TTG>ATG	p.L271M	TTC27_uc010ymx.1_Missense_Mutation_p.L221M	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	271							protein binding			central_nervous_system(1)	1						TTCAGGTGCTTTGGGAAAAAG	0.368		NA											57	101					0	0	0	0
EPAS1	2034	broad.mit.edu	37	2	46603862	46603862	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:46603862C>A	uc002ruv.2	+	9	1707	c.1219C>A	c.(1219-1221)CCA>ACA	p.P407T	EPAS1_uc002ruw.2_5'Flank	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	407					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GGCTCCCACCCCAGGAGACGC	0.562		NA											80	188					2.67e-37	3.49e-37	1	0
RTN4	57142	broad.mit.edu	37	2	55252252	55252252	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:55252252T>C	uc002rye.2	-	3	3281	c.2983A>G	c.(2983-2985)ATA>GTA	p.I995V	RTN4_uc002ryd.2_Missense_Mutation_p.I789V|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	995	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3						GCTGAAAATATAGCAGATGGT	0.378		NA											64	160					0	0	0	0
NMS	129521	broad.mit.edu	37	2	101089969	101089969	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:101089969A>T	uc002tan.1	+	3	158	c.151A>T	c.(151-153)AGT>TGT	p.S51C		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	neuromedin S precursor	51					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				ovary(1)	1						ATATTGTCTGAGTCAGTGGGC	0.209		NA											16	45					0	0	0	0
MAP4K4	9448	broad.mit.edu	37	2	102452401	102452401	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:102452401T>G	uc002tbg.2	+	9	789	c.734T>G	c.(733-735)ATT>AGT	p.I245S	MAP4K4_uc002tbc.2_Missense_Mutation_p.I245S|MAP4K4_uc002tbd.2_Missense_Mutation_p.I245S|MAP4K4_uc002tbe.2_Missense_Mutation_p.I245S|MAP4K4_uc002tbf.2_Missense_Mutation_p.I245S|MAP4K4_uc010yvy.1_Missense_Mutation_p.I245S|MAP4K4_uc002tbh.2_Missense_Mutation_p.I245S|MAP4K4_uc002tbi.2_Intron|MAP4K4_uc010yvz.1_Missense_Mutation_p.I225S|MAP4K4_uc010fiw.1_Missense_Mutation_p.I87S|MAP4K4_uc002tbj.1_Missense_Mutation_p.I141S	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	245	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						CTGTTTCTCATTCCCAGAAAC	0.408		NA											15	50					0	0	0	0
SULT1C3	442038	broad.mit.edu	37	2	108863794	108863794	+	Silent	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:108863794T>C	uc010ywo.1	+	1	144	c.144T>C	c.(142-144)GAT>GAC	p.D48D		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	48						cytoplasm	alcohol sulfotransferase activity			skin(1)	1						AGCCTGATGATCTTATTCTGG	0.338		NA											19	173					0	0	0	0
ANAPC1	64682	broad.mit.edu	37	2	112638249	112638249	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:112638249C>T	uc002thi.2	-	2	401	c.154G>A	c.(154-156)GAT>AAT	p.D52N	ANAPC1_uc002thj.2_Missense_Mutation_p.D42N	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	52					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						GCAGCACCATCAGAAGACCAT	0.473		NA											11	57					0	0	0	0
SLC35F5	80255	broad.mit.edu	37	2	114501302	114501302	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:114501302C>A	uc002tku.1	-	6	974	c.550G>T	c.(550-552)GAT>TAT	p.D184Y	SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Missense_Mutation_p.D178Y|SLC35F5_uc002tkw.2_Missense_Mutation_p.D184Y	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	184					transport	integral to membrane					0						TTTTCAGTATCAATGTTTGTG	0.358		NA											70	218					1.38e-34	1.78e-34	1	0
PTPN4	5775	broad.mit.edu	37	2	120718402	120718402	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:120718402G>T	uc002tmf.1	+	23	2924	c.2153G>T	c.(2152-2154)AGC>ATC	p.S718I	PTPN4_uc010flj.1_Missense_Mutation_p.S431I|PTPN4_uc010yyr.1_Missense_Mutation_p.S351I	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	718	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	CCTTCTTCCAGCATTATAAAT	0.358		NA											67	155					1.2e-24	1.5e-24	1	0
POTEE	445582	broad.mit.edu	37	2	132020968	132020968	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:132020968A>G	uc002tsn.2	+	15	1992	c.1940A>G	c.(1939-1941)GAA>GGA	p.E647G	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E247G|POTEE_uc002tsl.2_Missense_Mutation_p.E229G|POTEE_uc010fmy.1_Missense_Mutation_p.E111G	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	647	Potential.						ATP binding				0						GTCTTGCATGAAAATAGTACG	0.348		NA											26	52					0	0	0	0
ARL6IP6	151188	broad.mit.edu	37	2	153591558	153591558	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:153591558A>T	uc002tyn.2	+	3	1221	c.505A>T	c.(505-507)AGC>TGC	p.S169C	ARL6IP6_uc002tym.2_RNA|ARL6IP6_uc002tyo.2_Missense_Mutation_p.S61C	NM_152522	NP_689735	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting	169	Helical; (Potential).					integral to membrane					0						CTCCTGTTGCAGCTTTTCTTG	0.393		NA											109	225					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179432093	179432093	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:179432093C>T	uc010zfg.1	-	275	71286	c.71062G>A	c.(71062-71064)GCA>ACA	p.A23688T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A17383T|TTN_uc010zfi.1_Missense_Mutation_p.A17316T|TTN_uc010zfj.1_Missense_Mutation_p.A17191T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24615							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)			ATTCTAATTGCATCTTTTACA	0.353		NA											11	415					0	0	0	0
TOP1	7150	broad.mit.edu	37	20	39706251	39706251	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:39706251G>A	uc002xjl.2	+	5	555	c.309G>A	c.(307-309)AAG>AAA	p.K103K	TOP1_uc010gge.1_RNA	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	103	Lys-rich.			K->R: Localizes in both nucleoplasm and nucleoli; when associated with R-117 or R-153. Almost complete loss of sumoylation, concentrates in nucleoli and no clearing from nucleoli on CPT treatment; when associated with R-117 and R-153.	DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	CAAAAATAAAGAAGGAGAAGG	0.438		NA	T	NUP98	AML*								81	71					0	0	0	0
MATN4	8785	broad.mit.edu	37	20	43933064	43933064	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:43933064C>T	uc002xnn.2	-	3	634	c.447G>A	c.(445-447)CGG>CGA	p.R149R	MATN4_uc002xno.2_Silent_p.R149R|MATN4_uc002xnp.2_Silent_p.R149R|MATN4_uc010zwr.1_Silent_p.R97R|MATN4_uc002xnr.1_Silent_p.R149R|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	149	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				GGTCCTGGGGCCGCCCGTCTG	0.721		NA											6	7					0	0	0	0
PIGT	51604	broad.mit.edu	37	20	44045291	44045291	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:44045291T>A	uc002xoh.1	+	2	395	c.322T>A	c.(322-324)TCA>ACA	p.S108T	PIGT_uc010ghb.1_Missense_Mutation_p.S108T|PIGT_uc010zwt.1_RNA|PIGT_uc010ghd.1_Intron|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Missense_Mutation_p.S108T|PIGT_uc010ghf.1_Missense_Mutation_p.S108T|PIGT_uc002xoj.1_Missense_Mutation_p.S108T|PIGT_uc002xok.1_Missense_Mutation_p.S108T|PIGT_uc010zwu.1_5'UTR|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Intron|PIGT_uc010zww.1_Missense_Mutation_p.S108T|PIGT_uc010zwx.1_5'UTR|PIGT_uc010zwy.1_Intron|PIGT_uc010zwz.1_Intron|PIGT_uc010zxa.1_5'UTR|PIGT_uc002xol.1_5'Flank	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	108	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				GCAGGCCCCATCAGGTGCAGA	0.582		NA											7	35					0	0	0	0
KCNB1	3745	broad.mit.edu	37	20	47991215	47991215	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:47991215G>A	uc002xur.1	-	2	1046	c.882C>T	c.(880-882)CGC>CGT	p.R294R	KCNB1_uc002xus.1_Silent_p.R294R	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	294					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.R294R(1)		pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTGGACCACGCGGCGGACAT	0.532		NA											9	78					0	0	0	0
HSPA13	6782	broad.mit.edu	37	21	15753858	15753858	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr21:15753858G>A	uc002yjt.2	-	2	101	c.32C>T	c.(31-33)GCT>GTT	p.A11V	HSPA13_uc011abx.1_5'UTR	NM_006948	NP_008879	P48723	HSP13_HUMAN	heat shock protein 70kDa family member 13	11						endoplasmic reticulum|microsome	ATP binding			kidney(1)	1						AGTCAAAACAGCCGATCCTGA	0.363		NA											3	18					0	0	0	0
C21orf7	56911	broad.mit.edu	37	21	30521536	30521536	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr21:30521536C>T	uc002yne.2	+	6	668	c.397C>T	c.(397-399)CCT>TCT	p.P133S	C21orf7_uc011acr.1_RNA|C21orf7_uc002ynd.2_RNA|C21orf7_uc010gln.2_RNA|C21orf7_uc002ynf.2_Missense_Mutation_p.P133S|C21orf7_uc010glo.2_5'UTR|C21orf7_uc002yng.2_Missense_Mutation_p.P33S|C21orf7_uc010glp.2_RNA	NM_020152	NP_064537	P57077	TAK1L_HUMAN	chromosome 21 open reading frame 7	133						cytosol|nucleus	protein binding			ovary(2)	2				Colorectal(56;0.248)		AGACTCCATTCCTTTGGTCTT	0.423		NA											138	102					0	0	0	0
MICAL3	57553	broad.mit.edu	37	22	18369952	18369952	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:18369952G>A	uc002zng.3	-	15	2404	c.2051C>T	c.(2050-2052)ACC>ATC	p.T684I	MICAL3_uc011agl.1_Missense_Mutation_p.T684I|MICAL3_uc002znh.2_Missense_Mutation_p.T684I|MICAL3_uc002znj.1_Missense_Mutation_p.T384I|MICAL3_uc002znk.1_Missense_Mutation_p.T684I|MICAL3_uc002znl.1_Missense_Mutation_p.T317I|MICAL3_uc002znm.2_Missense_Mutation_p.T185I|MICAL3_uc010grf.2_Missense_Mutation_p.T684I	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	684						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		TGATTGACTGGTCTTTCTCCT	0.433		NA											19	48					0	0	0	0
TIMP3	7078	broad.mit.edu	37	22	33253268	33253268	+	Silent	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:33253268G>C	uc003anb.2	+	3	1423	c.237G>C	c.(235-237)GTG>GTC	p.V79V	SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	tissue inhibitor of metalloproteinase 3	79	NTR.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			lung(1)	1						TGCCCCATGTGCAGTACATCC	0.453		NA											62	129					0	0	0	0
TTLL12	23170	broad.mit.edu	37	22	43575707	43575707	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:43575707T>C	uc003bdq.2	-	5	790	c.758A>G	c.(757-759)AAG>AGG	p.K253R	TTLL12_uc003bdr.1_Missense_Mutation_p.K253R	NM_015140	NP_055955	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	253					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)				CAGCATGCACTTCCGGATCAG	0.662		NA											52	135					0	0	0	0
MOV10L1	54456	broad.mit.edu	37	22	50591608	50591608	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:50591608G>A	uc003bjj.2	+	22	3110	c.3027G>A	c.(3025-3027)TTG>TTA	p.L1009L	MOV10L1_uc003bjk.3_Silent_p.L1009L|MOV10L1_uc011arp.1_Silent_p.L989L|MOV10L1_uc003bjl.2_Silent_p.L136L|MOV10L1_uc003bjm.1_Silent_p.L52L	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	1009					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGGAGAAGTTGCCTAAGAAAG	0.582		NA											58	166					0	0	0	0
PLXNB2	23654	broad.mit.edu	37	22	50721196	50721196	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:50721196G>C	uc003bkv.3	-	18	3037	c.2931C>G	c.(2929-2931)TTC>TTG	p.F977L	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	977	Extracellular (Potential).|IPT/TIG 2.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|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)		CGCGGTAGGTGAAGAAGATGC	0.677		NA											7	34					0	0	0	0
FOXP1	27086	broad.mit.edu	37	3	71247445	71247445	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr3:71247445C>A	uc003dol.2	-	2	411	c.88G>T	c.(88-90)GGC>TGC	p.G30C	FOXP1_uc003dom.2_Missense_Mutation_p.G30C|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.G30C|FOXP1_uc003dop.2_Missense_Mutation_p.G30C|FOXP1_uc003doq.1_Missense_Mutation_p.G30C|FOXP1_uc003dos.2_Missense_Mutation_p.G30C	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	30					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CGAAGACCGCCGCACTCTAGT	0.602		NA	T	PAX5	ALL								69	98					2.7e-31	3.46e-31	1	0
CLCN2	1181	broad.mit.edu	37	3	184069802	184069802	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr3:184069802T>G	uc003foi.2	-	22	2538	c.2414A>C	c.(2413-2415)AAG>ACG	p.K805T	CLCN2_uc003foh.2_Intron|CLCN2_uc010hya.1_Missense_Mutation_p.K788T|CLCN2_uc011brl.1_Missense_Mutation_p.K805T|CLCN2_uc011brm.1_Missense_Mutation_p.K761T	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	805	CBS 2.|Cytoplasmic (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TGGCCCTACCTTGTGCAAAGA	0.577		NA											483	156					0	0	0	0
TFRC	7037	broad.mit.edu	37	3	195780420	195780420	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr3:195780420G>T	uc003fvz.3	-	18	2192	c.1909C>A	c.(1909-1911)CTG>ATG	p.L637M	TFRC_uc003fwa.3_Missense_Mutation_p.L637M|TFRC_uc010hzy.2_Missense_Mutation_p.L556M|TFRC_uc011btr.1_Missense_Mutation_p.L355M	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	637	Extracellular (Potential).|Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TGTAAACTCAGGCCCATTTCC	0.393		NA	T	BCL6	NHL								101	80					1.19e-48	1.57e-48	1	0
GBA3	57733	broad.mit.edu	37	4	22749649	22749649	+	Silent	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:22749649T>A	uc003gqp.3	+	3	1108	c.1017T>A	c.(1015-1017)TCT>TCA	p.S339S	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Silent_p.S340S	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	339					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						CAGATCCATCTTGGAAAAATG	0.368		NA											13	15					0	0	0	0
SLC4A4	8671	broad.mit.edu	37	4	72429555	72429555	+	Missense_Mutation	SNP	A	A	G	rs150809470		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:72429555A>G	uc003hfy.2	+	24	3262	c.3145A>G	c.(3145-3147)ATG>GTG	p.M1049V	SLC4A4_uc010iic.2_Intron|SLC4A4_uc010iib.2_Missense_Mutation_p.M965V|SLC4A4_uc003hfz.2_Missense_Mutation_p.M1049V|SLC4A4_uc003hgc.3_Missense_Mutation_p.M1005V|SLC4A4_uc010iid.2_Missense_Mutation_p.M253V	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	1049	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TAAAATTCCAATGGACATCAT	0.373		NA											86	138					0	0	0	0
ENPEP	2028	broad.mit.edu	37	4	111474548	111474548	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:111474548A>G	uc003iab.3	+	18	2921	c.2579A>G	c.(2578-2580)AAC>AGC	p.N860S		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	860	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ATCTCATATAACAGCTATGGG	0.393		NA											121	129					0	0	0	0
FNIP2	57600	broad.mit.edu	37	4	159782919	159782919	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:159782919G>A	uc003iqe.3	+	12	1639	c.1456G>A	c.(1456-1458)GCA>ACA	p.A486T		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	486					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCCTCTTTGGGCACAGCTGGG	0.443		NA											108	114					0	0	0	0
SPATA4	132851	broad.mit.edu	37	4	177113893	177113893	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:177113893G>A	uc003iuo.1	-	4	682	c.573C>T	c.(571-573)AAC>AAT	p.N191N		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	191					apoptosis|spermatogenesis						0		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		ATAACCTAATGTTATCTTTAA	0.383		NA											49	57					0	0	0	0
AHRR	57491	broad.mit.edu	37	5	423993	423993	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:423993G>A	uc003jav.2	+	7	665	c.621G>A	c.(619-621)CAG>CAA	p.Q207Q	AHRR_uc003jaw.2_Silent_p.Q203Q|AHRR_uc010isy.2_Silent_p.Q53Q|AHRR_uc010isz.2_Silent_p.Q203Q|AHRR_uc003jax.2_5'UTR|AHRR_uc003jay.2_Silent_p.Q63Q	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TCAGGGCCCAGGAGTGGGGCA	0.657		NA											54	59					0	0	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5182363	5182363	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:5182363C>G	uc003jdl.2	+	4	846	c.708C>G	c.(706-708)AGC>AGG	p.S236R	ADAMTS16_uc003jdk.1_Missense_Mutation_p.S236R|ADAMTS16_uc003jdj.1_Missense_Mutation_p.S236R	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	236					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TGCACAGCAGCGACCTTCGCC	0.522		NA											46	82					0	0	0	0
PRDM9	56979	broad.mit.edu	37	5	23527862	23527862	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:23527862G>T	uc003jgo.2	+	11	2847	c.2665G>T	c.(2665-2667)GTC>TTC	p.V889F		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	889					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						GAAGCCCTACGTCTGCAGGGA	0.522		NA								HNSCC(3;0.000094)			17	112					6.5e-13	7.65e-13	1	0
C7	730	broad.mit.edu	37	5	40981608	40981608	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:40981608C>T	uc003jmh.2	+	18	2579	c.2465C>T	c.(2464-2466)GCT>GTT	p.A822V		NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	822	Complement control factor I module 2.			GA -> AL (in Ref. 3).	complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)				GAGGCGGGCGCTCTGAGATGC	0.567		NA											22	36					0	0	0	0
HCN1	348980	broad.mit.edu	37	5	45262156	45262156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:45262156G>T	uc003jok.2	-	8	2565	c.2540C>A	c.(2539-2541)TCG>TAG	p.S847*		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	847	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GATGGCTCCCGACGACATCTG	0.642		NA											46	180					9.59e-17	1.17e-16	1	0
MAP1B	4131	broad.mit.edu	37	5	71494697	71494697	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:71494697G>A	uc003kbw.3	+	5	5756	c.5515G>A	c.(5515-5517)GAT>AAT	p.D1839N	MAP1B_uc010iyw.1_Missense_Mutation_p.D1856N|MAP1B_uc010iyx.1_Missense_Mutation_p.D1713N|MAP1B_uc010iyy.1_Missense_Mutation_p.D1713N	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1839						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTGTTATTCGATACAATGCA	0.493		NA											40	44					0	0	0	0
FBN2	2201	broad.mit.edu	37	5	127646995	127646995	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:127646995C>G	uc003kuu.2	-	39	5510	c.5071G>C	c.(5071-5073)GAA>CAA	p.E1691Q		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1691	EGF-like 27; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCTCACCTTCACAGATGCGG	0.498		NA											21	25					0	0	0	0
FAM13B	51306	broad.mit.edu	37	5	137346746	137346746	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:137346746T>A	uc003lbz.2	-	6	1175	c.641A>T	c.(640-642)AAT>ATT	p.N214I	FAM13B_uc003lcb.2_Missense_Mutation_p.N96I|FAM13B_uc003lca.2_Missense_Mutation_p.N214I	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	214	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						TTCCTCTTCATTCTCAAAAAA	0.303		NA											70	60					0	0	0	0
NSD1	64324	broad.mit.edu	37	5	176637762	176637762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:176637762C>T	uc003mfr.3	+	5	2500	c.2362C>T	c.(2362-2364)CGA>TGA	p.R788*	NSD1_uc003mft.3_Nonsense_Mutation_p.R519*|NSD1_uc003mfs.1_Nonsense_Mutation_p.R685*|NSD1_uc011dfx.1_Nonsense_Mutation_p.R436*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	788					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCCCAAGTTCCGAAGTATAAA	0.413		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			38	45					0	0	0	0
PGBD1	84547	broad.mit.edu	37	6	28269689	28269689	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:28269689G>C	uc003nky.2	+	7	2428	c.2058G>C	c.(2056-2058)TTG>TTC	p.L686F	PGBD1_uc003nkz.2_Missense_Mutation_p.L686F	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	686					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						AGATAATTTTGTGTCGTTGGT	0.388		NA											84	311					0	0	0	0
NOTCH4	4855	broad.mit.edu	37	6	32168683	32168683	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:32168683C>T	uc003obb.2	-	23	4379	c.4240G>A	c.(4240-4242)GCG>ACG	p.A1414T	NOTCH4_uc003oba.2_Missense_Mutation_p.A77T|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1414	Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						GCAGCCATCGCAGCAAGGAAG	0.647		NA											30	33					0	0	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188357	32188357	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:32188357G>A	uc003obb.2	-	6	1123	c.984C>T	c.(982-984)AAC>AAT	p.N328N	NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Silent_p.N328N	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	328	EGF-like 8; calcium-binding (Potential).|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						AGGTGCCCCCGTTTCTGCAGT	0.617		NA											44	141					0	0	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713831	32713831	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:32713831C>T	uc003obx.2	+	3	653	c.595C>T	c.(595-597)CCT>TCT	p.P199S		NM_020056	NP_064440	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ	199	Alpha-2.|Extracellular (Potential).|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTGGACGAGCCTCTTCTGAA	0.488		NA											97	255					0	0	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34827076	34827076	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:34827076C>T	uc003oju.3	+	14	3177	c.2943C>T	c.(2941-2943)AGC>AGT	p.S981S	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	981										ovary(3)	3						AGAAACTGAGCAGAACCCAAG	0.572		NA											65	86					0	0	0	0
DNAH8	1769	broad.mit.edu	37	6	38754589	38754589	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:38754589T>C	uc003ooe.1	+	16	2393	c.1793T>C	c.(1792-1794)CTG>CCG	p.L598P		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GGGAAGTTGCTGGTTAATTTC	0.363		NA											77	99					0	0	0	0
GPR111	222611	broad.mit.edu	37	6	47649207	47649207	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:47649207A>C	uc010jzj.1	+	6	913	c.912A>C	c.(910-912)AAA>AAC	p.K304N	GPR111_uc010jzk.1_Missense_Mutation_p.K236N|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	304	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						ACATTGGAAAAAATTTCACTT	0.398		NA											89	293					0	0	0	0
DEFB112	245915	broad.mit.edu	37	6	50016327	50016327	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:50016327T>C	uc011dws.1	-	1	38	c.38A>G	c.(37-39)GAA>GGA	p.E13G		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	beta-defensin 112 precursor	13					defense response to bacterium	extracellular region				central_nervous_system(1)	1	Lung NSC(77;0.042)					GTACATTTTTTCAAGTTTCAG	0.328		NA											120	121					0	0	0	0
ZNF451	26036	broad.mit.edu	37	6	57012576	57012576	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:57012576G>T	uc003pdm.1	+	10	1917	c.1693G>T	c.(1693-1695)GAG>TAG	p.E565*	ZNF451_uc003pdl.2_Nonsense_Mutation_p.E565*|ZNF451_uc003pdn.1_Nonsense_Mutation_p.E565*|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Nonsense_Mutation_p.E565*	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGAGATGGATGAGGTAGAAGG	0.393		NA											119	313					4.07e-57	5.43e-57	1	0
MCHR2	84539	broad.mit.edu	37	6	100390920	100390920	+	Silent	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:100390920C>A	uc003pqh.1	-	4	807	c.492G>T	c.(490-492)CTG>CTT	p.L164L	MCHR2_uc003pqi.1_Silent_p.L164L	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	164	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGGCAATGCCAGGATAAAGG	0.478		NA											72	104					1.93e-29	2.46e-29	1	0
SDK1	221935	broad.mit.edu	37	7	4002400	4002400	+	Missense_Mutation	SNP	G	G	A	rs148101694		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:4002400G>A	uc003smx.2	+	9	1485	c.1346G>A	c.(1345-1347)CGT>CAT	p.R449H		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	449	Ig-like C2-type 4.				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)		CAGAAGCTGCGTCCAGAGGAC	0.587		NA											21	33					0	0	0	0
PDE1C	5137	broad.mit.edu	37	7	32338306	32338306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:32338306G>T	uc003tco.1	-	1	636	c.42C>A	c.(40-42)TGC>TGA	p.C14*		NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	Error:Variant_position_missing_in_Q14123_after_alignment					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			TGGCGCTCCGGCATTTTTTGA	0.662		NA											7	16					0.00307968	0.00327088	1	0
PCLO	27445	broad.mit.edu	37	7	82580369	82580369	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:82580369C>G	uc003uhx.2	-	6	9824	c.9535G>C	c.(9535-9537)GAC>CAC	p.D3179H	PCLO_uc003uhv.2_Missense_Mutation_p.D3179H|PCLO_uc010lec.2_Missense_Mutation_p.D144H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3110					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GGAACAGAGTCTATCGTCTCA	0.423		NA											11	53					0	0	0	0
AKAP9	10142	broad.mit.edu	37	7	91729178	91729178	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:91729178G>C	uc003ulg.2	+	44	11116	c.10891G>C	c.(10891-10893)GAT>CAT	p.D3631H	AKAP9_uc003ulf.2_Missense_Mutation_p.D3623H|AKAP9_uc003uli.2_Missense_Mutation_p.D3254H|AKAP9_uc003ulj.2_Missense_Mutation_p.D1401H|AKAP9_uc003ull.2_Missense_Mutation_p.D527H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3635	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)			AGCTGGTAGAGATAATGTATG	0.378		NA	T	BRAF	papillary thyroid								26	165					0	0	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94879416	94879416	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:94879416G>T	uc003unp.2	+	9	2461	c.2179G>T	c.(2179-2181)GAA>TAA	p.E727*	PPP1R9A_uc010lfj.2_Nonsense_Mutation_p.E749*|PPP1R9A_uc011kif.1_Nonsense_Mutation_p.E727*|PPP1R9A_uc003unq.2_Nonsense_Mutation_p.E727*|PPP1R9A_uc011kig.1_Nonsense_Mutation_p.E727*	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	727	Interacts with TGN38 (By similarity).|Potential.					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)			AGAGAATAAGGAAAGAATGTT	0.433		NA								HNSCC(28;0.073)			19	41					8.28e-16	9.99e-16	1	0
TSGA14	95681	broad.mit.edu	37	7	130038842	130038842	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:130038842T>A	uc003vpz.2	-	11	1059	c.1012A>T	c.(1012-1014)AAG>TAG	p.K338*	TSGA14_uc003vpy.2_Nonsense_Mutation_p.K100*|TSGA14_uc010lmf.2_Nonsense_Mutation_p.K135*|TSGA14_uc003vqa.2_Nonsense_Mutation_p.K266*|TSGA14_uc011kpg.1_Nonsense_Mutation_p.K250*	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	testis specific, 14	338					G2/M transition of mitotic cell cycle	centrosome|cytosol					0	Melanoma(18;0.0435)					CCAGGCACCTTGGACTCTCTT	0.592		NA											110	184					0	0	0	0
AKR1B10	57016	broad.mit.edu	37	7	134215455	134215455	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:134215455A>C	uc003vrr.2	+	2	447	c.127A>C	c.(127-129)ATT>CTT	p.I43L		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	43					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5						ATATCGGCACATTGACTGTGC	0.458		NA											27	133					0	0	0	0
TRPV6	55503	broad.mit.edu	37	7	142571344	142571344	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:142571344C>A	uc003wbx.1	-	13	1861	c.1645G>T	c.(1645-1647)GTG>TTG	p.V549L	TRPV6_uc003wbw.1_Missense_Mutation_p.V335L|TRPV6_uc010lou.1_Missense_Mutation_p.V420L	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	549					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					GGCAGGTCCACGTTGTAGTTG	0.562		NA											78	165					2.51e-31	3.23e-31	1	0
GIMAP4	55303	broad.mit.edu	37	7	150269705	150269705	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:150269705G>T	uc003whl.2	+	3	629	c.547G>T	c.(547-549)GGT>TGT	p.G183C	GIMAP4_uc011kuu.1_Missense_Mutation_p.G44C|GIMAP4_uc011kuv.1_Missense_Mutation_p.G197C	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	183							GTP binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACATTTTCGGTGACCGCTA	0.512		NA											21	151					1.28e-07	1.45e-07	1	0
EYA1	2138	broad.mit.edu	37	8	72229916	72229916	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:72229916A>G	uc003xys.3	-	6	714	c.427T>C	c.(427-429)TGG>CGG	p.W143R	EYA1_uc003xyr.3_Intron|EYA1_uc003xyt.3_Missense_Mutation_p.W110R|EYA1_uc010lzf.2_Missense_Mutation_p.W70R|EYA1_uc003xyu.2_Missense_Mutation_p.W143R|EYA1_uc011lfe.1_Intron|EYA1_uc003xyv.2_Intron	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	143					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ATGCCTGCCCACAATGCACCT	0.428		NA											108	241					0	0	0	0
KCNB2	9312	broad.mit.edu	37	8	73480044	73480044	+	Silent	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:73480044G>T	uc003xzb.2	+	2	663	c.75G>T	c.(73-75)GTG>GTT	p.V25V		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	25	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			CAGAGCCTGTGGACATTATCC	0.547		NA											86	173					1.07e-49	1.42e-49	1	0
VPS13B	157680	broad.mit.edu	37	8	100829989	100829989	+	Silent	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:100829989G>T	uc003yiv.2	+	45	8505	c.8394G>T	c.(8392-8394)GTG>GTT	p.V2798V	VPS13B_uc003yiw.2_Silent_p.V2773V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2798					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)			CAAGAGATGTGTGCCTGGAAT	0.418		NA											100	69					9.45e-43	1.24e-42	1	0
FER1L6	654463	broad.mit.edu	37	8	125076699	125076699	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:125076699C>T	uc003yqw.2	+	26	3646	c.3440C>T	c.(3439-3441)CCC>CTC	p.P1147L	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1147	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACAGTGGTGCCCGACTCTGCC	0.607		NA											78	104					0	0	0	0
ASAP1	50807	broad.mit.edu	37	8	131249206	131249206	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:131249206A>T	uc003yta.1	-	3	249	c.221T>A	c.(220-222)GTG>GAG	p.V74E	ASAP1_uc011liw.1_Missense_Mutation_p.V67E	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	74					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						AGACTTCTTCACTTTCTGAAG	0.294		NA											37	79					0	0	0	0
TG	7038	broad.mit.edu	37	8	134042084	134042084	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:134042084G>T	uc003ytw.2	+	41	7096	c.7055G>T	c.(7054-7056)GGC>GTC	p.G2352V	TG_uc010mdw.2_Missense_Mutation_p.G1111V|TG_uc011ljb.1_Missense_Mutation_p.G721V|TG_uc011ljc.1_Missense_Mutation_p.G485V	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2352					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGTGAGTGGCAACTGGGGG	0.572		NA											26	47					2.61e-14	3.14e-14	1	0
SCRIB	23513	broad.mit.edu	37	8	144893221	144893221	+	Silent	SNP	C	C	T	rs146561937	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:144893221C>T	uc003yzp.1	-	11	1135	c.1128G>A	c.(1126-1128)GCG>GCA	p.A376A	SCRIB_uc003yzo.1_Silent_p.A376A	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	376	Sufficient for targeting to adherens junction and to inhibit cell proliferation.|LRR 15.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	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;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGTGGGTGAGCGCGAACGGCA	0.687		NA											6	10					0	0	0	0
LINGO2	158038	broad.mit.edu	37	9	27950604	27950604	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:27950604C>G	uc003zqu.1	-	2	260	c.66G>C	c.(64-66)ATG>ATC	p.M22I	LINGO2_uc010mjf.1_Missense_Mutation_p.M22I|LINGO2_uc003zqv.1_Missense_Mutation_p.M22I	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	22						integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGGTGGATCCCATGAAGATTA	0.542		NA											4	55					0	0	0	0
PAX5	5079	broad.mit.edu	37	9	37015148	37015148	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:37015148A>G	uc003zzo.1	-	3	704	c.256T>C	c.(256-258)TCC>CCC	p.S86P	PAX5_uc011lpw.1_Missense_Mutation_p.S86P|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_5'UTR|PAX5_uc010mls.1_Missense_Mutation_p.S86P|PAX5_uc011lpz.1_Missense_Mutation_p.S86P|PAX5_uc011lqa.1_5'UTR|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.S86P|PAX5_uc010mlp.1_Missense_Mutation_p.S86P|PAX5_uc011lqc.1_Missense_Mutation_p.S86P|PAX5_uc010mlr.1_Missense_Mutation_p.S86P|PAX5_uc011lqd.1_Intron|PAX5_uc011lqe.1_RNA|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_RNA	NM_016734	NP_057953	Q02548	PAX5_HUMAN	paired box 5	86	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(32)	PAX5/JAK2(18)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TTTGGTTTGGATCCTCCAATT	0.483		NA	T|Mis|D|F|S	IGH@|ETV6|PML|FOXP1|ZNF521|ELN	NHL|ALL|B-ALL								155	203					0	0	0	0
HSDL2	84263	broad.mit.edu	37	9	115216373	115216373	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:115216373A>G	uc004bga.1	+	9	1039	c.946A>G	c.(946-948)ATT>GTT	p.I316V	HSDL2_uc011lwv.1_Missense_Mutation_p.I195V|HSDL2_uc004bgb.1_Missense_Mutation_p.I150V|HSDL2_uc004bgc.1_Missense_Mutation_p.I243V|HSDL2_uc011lww.1_Missense_Mutation_p.I111V	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	316	SCP2.					peroxisome	oxidoreductase activity|sterol binding				0						AACATTTAGAATTGTTAAGGA	0.398		NA											81	159					0	0	0	0
NUP188	23511	broad.mit.edu	37	9	131743547	131743547	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:131743547A>G	uc004bws.1	+	15	1416	c.1394A>G	c.(1393-1395)TAT>TGT	p.Y465C		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	465					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						TGGCAGGTGTATAGCTTCTTG	0.423		NA											107	335					0	0	0	0
ARHGAP6	395	broad.mit.edu	37	X	11204464	11204464	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chrX:11204464C>A	uc004cup.1	-	5	2038	c.1165G>T	c.(1165-1167)GCT>TCT	p.A389S	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.A389S|ARHGAP6_uc004cum.1_Missense_Mutation_p.A186S|ARHGAP6_uc004cun.1_Missense_Mutation_p.A209S|ARHGAP6_uc010neb.1_Missense_Mutation_p.A211S|ARHGAP6_uc011mif.1_Missense_Mutation_p.A186S	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	389					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2						TTACTTTGAGCCTCAGCAGGC	0.463		NA											163	103					9.35e-79	1.25e-78	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972680	29972680	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chrX:29972680G>T	uc004dby.2	+	10	1751	c.1243G>T	c.(1243-1245)GAT>TAT	p.D415Y		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	415	Cytoplasmic (Potential).|TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						CACCAAAGTGGATCCTGACCA	0.358		NA											48	29					3.68e-26	4.63e-26	1	0
CXorf22	170063	broad.mit.edu	37	X	36007603	36007603	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chrX:36007603G>T	uc004ddj.2	+	16	2940	c.2881G>T	c.(2881-2883)GGC>TGC	p.G961C	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	961										large_intestine(1)|lung(1)|ovary(1)	3						TTGTTTTGAGGGCTATGAATT	0.328		NA											41	31					1.6e-28	2.03e-28	1	0
CAPZB	832	broad.mit.edu	37	1	19670883	19670884	+	Frame_Shift_Ins	INS	-	-	A	rs138529514	by1000genomes	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:19670883_19670884insA	uc010ocz.1	-	8	1214_1215	c.786_787insT	c.(784-789)TTTGGAfs	p.F262fs	CAPZB_uc001bce.2_Frame_Shift_Ins_p.F233fs|CAPZB_uc009vpk.2_Intron|CAPZB_uc001bcd.2_Frame_Shift_Ins_p.F221fs	NM_004930	NP_004921	P47756	CAPZB_HUMAN	F-actin capping protein beta subunit	233_234					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding				0		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TTTGTTTTTCCAAAGTAGATCT	0.327		NA									OREG0013171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	98	---	---	---	---	NA	NA	NA	NA
PFKP	5214	broad.mit.edu	37	10	3178723	3178724	+	Frame_Shift_Ins	INS	-	-	A	rs34180069	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr10:3178723_3178724insA	uc001igp.2	+	22	2343_2344	c.2307_2308insA	c.(2305-2310)GACGTGfs	p.D769fs	PFKP_uc001igq.2_Frame_Shift_Ins_p.D761fs|PFKP_uc009xhr.2_Frame_Shift_Ins_p.D731fs|PFKP_uc009xht.2_Frame_Shift_Ins_p.D507fs|PFKP_uc009xhu.2_Frame_Shift_Ins_p.D275fs	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	769_770					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CCAGCTATGACGTGTCGGACTC	0.564		NA											15	35	---	---	---	---	NA	NA	NA	NA
UHRF1BP1L	23074	broad.mit.edu	37	12	100502306	100502319	+	Frame_Shift_Del	DEL	GGAGATAAATTTTT	GGAGATAAATTTTT	-			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:100502306_100502319delGGAGATAAATTTTT	uc001tgq.2	-	2	281_294	c.52_65delAAAAATTTATCTCC	c.(52-66)AAAAATTTATCTCCTfs	p.K18fs	UHRF1BP1L_uc001tgr.2_Frame_Shift_Del_p.K18fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	18_22										ovary(2)	2						TATCTTGTCAGGAGATAAATTTTTGGTAAATCTG	0.313		NA											30	88	---	---	---	---	NA	NA	NA	NA
ADAM33	80332	broad.mit.edu	37	20	3655704	3655704	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:3655704delC	uc002wit.2	-	4	390	c.303delG	c.(301-303)GGGfs	p.G101fs	ADAM33_uc002wir.1_Frame_Shift_Del_p.G101fs|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Frame_Shift_Del_p.G101fs|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Frame_Shift_Del_p.G100fs|ADAM33_uc010zqg.1_Frame_Shift_Del_p.G100fs|ADAM33_uc010zqh.1_Frame_Shift_Del_p.G101fs	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	101	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						CCACTGGCTGCCCATCTGGGC	0.612		NA											14	18	---	---	---	---	NA	NA	NA	NA
BID	637	broad.mit.edu	37	22	18222188	18222189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:18222188_18222189insT	uc002znd.1	-	4	459_460	c.289_290insA	c.(289-291)ATGfs	p.M97fs	BID_uc002znc.1_Frame_Shift_Ins_p.M143fs|BID_uc002zne.1_Frame_Shift_Ins_p.M1fs|BID_uc010gra.1_RNA|BID_uc002znf.1_Frame_Shift_Ins_p.M1fs|BID_uc010grb.1_Frame_Shift_Ins_p.M97fs|BID_uc010grc.1_Frame_Shift_Ins_p.M1fs	NM_001196	NP_001187	P55957	BID_HUMAN	BH3 interacting domain death agonist isoform 2	97	BH3.				activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding				0		all_epithelial(15;0.198)		Lung(27;0.0419)		GCTACGGTCCATGCTGTCCCCG	0.629		NA											23	56	---	---	---	---	NA	NA	NA	NA
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:4204225_4204229delTTGAG	uc003ghp.1	-	4	706_710	c.676_680delCTCAA	c.(676-681)CTCAATfs	p.L226fs		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226_227					biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502		NA											8	202	---	---	---	---	NA	NA	NA	NA
CUL9	23113	broad.mit.edu	37	6	43153942	43153943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:43153942_43153943insC	uc003ouk.2	+	4	1075_1076	c.1000_1001insC	c.(1000-1002)ACCfs	p.T334fs	CUL9_uc003ouj.1_Frame_Shift_Ins_p.T334fs|CUL9_uc003oul.2_Frame_Shift_Ins_p.T334fs|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	334					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						TCCCCGGCCAACCCGGTCCATC	0.614		NA											50	243	---	---	---	---	NA	NA	NA	NA
