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
AHDC1	27245	broad.mit.edu	37	1	27876046	27876046	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:27876046G>A	uc009vsy.2	-	6	3550	c.2581C>T	c.(2581-2583)CGC>TGC	p.R861C	AHDC1_uc009vsz.1_Missense_Mutation_p.R861C	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	861							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GACTCTGGGCGAGAGGCTGAG	0.652		NA											5	53					0	0	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33065901	33065901	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:33065901G>A	uc001bvn.2	+	5	1692	c.1207G>A	c.(1207-1209)GAA>AAA	p.E403K	ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_3'UTR|ZBTB8OS_uc001bvo.1_RNA	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCACTTGAGTGAAGATGAGAA	0.423		NA											4	36					0	0	0	0
ADC	113451	broad.mit.edu	37	1	33583621	33583621	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:33583621T>G	uc001bwr.2	+	11	1735	c.1148T>G	c.(1147-1149)GTC>GGC	p.V383G	ADC_uc001bws.2_Missense_Mutation_p.V383G|ADC_uc009vue.2_Missense_Mutation_p.V383G|ADC_uc001bwt.1_Missense_Mutation_p.V288G|ADC_uc001bwu.2_Missense_Mutation_p.V288G|ADC_uc001bwv.2_Missense_Mutation_p.V288G|ADC_uc001bww.2_Missense_Mutation_p.V288G|ADC_uc001bwx.1_Missense_Mutation_p.V360G|ADC_uc009vug.2_Missense_Mutation_p.V403G	NM_052998	NP_443724	Q96A70	ADC_HUMAN	ODC antizyme inhibitor-2	383					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	GACTGGCTGGTCTTTGACAAC	0.637		NA											5	57					0	0	0	0
EIF2C3	192669	broad.mit.edu	37	1	36479255	36479255	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:36479255G>C	uc001bzp.2	+	10	1430	c.1174G>C	c.(1174-1176)GAT>CAT	p.D392H	EIF2C3_uc001bzq.2_Missense_Mutation_p.D158H	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	392					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTATGAAACAGATCCATTTGT	0.393		NA											7	90					0	0	0	0
LEPR	3953	broad.mit.edu	37	1	66067602	66067602	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:66067602C>T	uc001dci.2	+	10	1564	c.1362C>T	c.(1360-1362)ATC>ATT	p.I454I	LEPR_uc001dcg.2_Silent_p.I454I|LEPR_uc001dch.2_Silent_p.I454I|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Silent_p.I454I|LEPR_uc001dck.2_Silent_p.I454I	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	454	Extracellular (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CCAGTACAATCCAGTCACTTG	0.328		NA											11	74					0	0	0	0
S100A7	6278	broad.mit.edu	37	1	153431379	153431379	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:153431379C>T	uc001fbv.1	-	2	182	c.111G>A	c.(109-111)AAG>AAA	p.K37K		NM_002963	NP_002954	P31151	S10A7_HUMAN	S100 calcium binding protein A7	37	EF-hand 1.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			skin(1)	1	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAAGTTCTCCTTCATCATCG	0.393		NA											10	90					0	0	0	0
C1orf129	80133	broad.mit.edu	37	1	170952646	170952646	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:170952646T>G	uc001ghg.2	+	9	830	c.700T>G	c.(700-702)TTT>GTT	p.F234V	C1orf129_uc009wvy.2_Missense_Mutation_p.F41V|C1orf129_uc010plz.1_Missense_Mutation_p.F234V	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	234							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACCCAAGGAGTTTCAACAAGA	0.358		NA											6	21					0	0	0	0
CFH	3075	broad.mit.edu	37	1	196712601	196712601	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:196712601G>A	uc001gtj.3	+	20	3393	c.3153G>A	c.(3151-3153)CCG>CCA	p.P1051P		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	1051	Sushi 18.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						GTGTGAATCCGCCCACAGTAC	0.368		NA											7	52					0	0	0	0
TRIM67	440730	broad.mit.edu	37	1	231344791	231344791	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:231344791G>T	uc009xfn.1	+	8	1960	c.1918G>T	c.(1918-1920)GTG>TTG	p.V640L		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	640	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)				CGACCGGGTGGTGCTGGGCAC	0.612		NA											5	113					1.24e-05	1.35e-05	1	0
FMN2	56776	broad.mit.edu	37	1	240370553	240370553	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:240370553C>G	uc010pyd.1	+	5	2666	c.2441C>G	c.(2440-2442)CCA>CGA	p.P814R	FMN2_uc010pye.1_Missense_Mutation_p.P818R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	814	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCACCACCTCCATCCCTTCTG	0.527		NA											7	66					0	0	0	0
CDNF	441549	broad.mit.edu	37	10	14862117	14862117	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:14862117C>T	uc001inb.1	-	4	464	c.426G>A	c.(424-426)ATG>ATA	p.M142I	CDNF_uc010qbv.1_3'UTR|CDNF_uc001inc.1_Missense_Mutation_p.M33I	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	arginine-rich, mutated in early stage	142						extracellular region	growth factor activity				0						CTGCCACTCTCATCTTCCGCA	0.443		NA											25	101					0	0	0	0
GAD2	2572	broad.mit.edu	37	10	26575364	26575364	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:26575364G>A	uc001isp.2	+	13	1830	c.1327G>A	c.(1327-1329)GCC>ACC	p.A443T	GAD2_uc001isq.2_Missense_Mutation_p.A443T	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	443					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	TGGAGACAAGGCCTTACAGTG	0.438		NA											23	60					0	0	0	0
SEMA4G	57715	broad.mit.edu	37	10	102737432	102737432	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:102737432C>T	uc010qpt.1	+	5	823	c.380C>T	c.(379-381)TCT>TTT	p.S127F	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Missense_Mutation_p.S127F|SEMA4G_uc001krx.2_Missense_Mutation_p.S127F	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	127	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CGGCTCAATTCTACCCACCTC	0.488		NA											18	86					0	0	0	0
NOLC1	9221	broad.mit.edu	37	10	103917061	103917061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:103917061C>T	uc001kuo.2	+	3	527	c.292C>T	c.(292-294)CAA>TAA	p.Q98*	NOLC1_uc001kup.2_Nonsense_Mutation_p.Q98*|NOLC1_uc001kuq.2_Nonsense_Mutation_p.Q99*|NOLC1_uc009xxb.1_Intron|NOLC1_uc001kur.2_Intron	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	98	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GGAGGAAGTTCAAGGGCCTCC	0.517		NA											6	45					0	0	0	0
OR51A2	401667	broad.mit.edu	37	11	4976751	4976751	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:4976751G>C	uc010qyt.1	-	1	193	c.193C>G	c.(193-195)CTT>GTT	p.L65V		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A,	65	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACATGGAAAGAAAATAGTAC	0.438		NA											10	68					0	0	0	0
OR52A5	390054	broad.mit.edu	37	11	5153246	5153246	+	Silent	SNP	G	G	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:5153246G>T	uc010qyx.1	-	1	627	c.627C>A	c.(625-627)ATC>ATA	p.I209I		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAAACCCTAGGATTGCAAAGG	0.418		NA											7	53					2.01e-06	2.21e-06	1	0
SPRYD5	84767	broad.mit.edu	37	11	55653198	55653198	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:55653198G>C	uc010rip.1	+	2	386	c.294G>C	c.(292-294)GAG>GAC	p.E98D	SPRYD5_uc010riq.1_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	98	B box-type.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)				TGCACAGAGAGACAAAGAAGA	0.488		NA											3	43					0	0	0	0
SSRP1	6749	broad.mit.edu	37	11	57099146	57099146	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:57099146C>G	uc001njt.2	-	9	1486	c.1219G>C	c.(1219-1221)GAG>CAG	p.E407Q		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	407					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2						TCTCACCTCTCAATGCTGCTG	0.532		NA											8	41					0	0	0	0
C11orf9	745	broad.mit.edu	37	11	61551037	61551037	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:61551037C>T	uc001nsc.1	+	23	3180	c.3084C>T	c.(3082-3084)ATC>ATT	p.I1028I	C11orf9_uc001nse.1_Silent_p.I988I|C11orf9_uc010rll.1_Silent_p.I414I	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	1028					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CGATGTCCATCACCTCCCAGT	0.617		NA											9	110					0	0	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73020920	73020920	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:73020920T>C	uc001otu.2	+	1	1258	c.1237T>C	c.(1237-1239)TGG>CGG	p.W413R		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	413					actin cytoskeleton organization|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	Rho guanyl-nucleotide exchange factor activity				0						TTCTGGGGGCTGGGGCGTGTA	0.652		NA											6	42					0	0	0	0
USP35	57558	broad.mit.edu	37	11	77924770	77924770	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:77924770G>C	uc009yva.1	+	11	3214	c.2968G>C	c.(2968-2970)GAT>CAT	p.D990H	USP35_uc001ozc.2_Missense_Mutation_p.D558H|USP35_uc010rsp.1_Missense_Mutation_p.D422H|USP35_uc001ozd.2_Missense_Mutation_p.D601H|USP35_uc001ozf.2_Missense_Mutation_p.D721H	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	990					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GAGGGGCTTTGATGAAGACAA	0.587		NA											5	51					0	0	0	0
OR10G4	390264	broad.mit.edu	37	11	123887072	123887072	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:123887072T>C	uc010sac.1	+	1	791	c.791T>C	c.(790-792)ATG>ACG	p.M264T		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCAGGCTCCATGGATGCCATG	0.517		NA											18	55					0	0	0	0
FGD4	121512	broad.mit.edu	37	12	32793362	32793362	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:32793362G>A	uc001rkz.2	+	17	2673	c.2196G>A	c.(2194-2196)CTG>CTA	p.L732L	FGD4_uc001rlc.2_Silent_p.L817L|FGD4_uc001rla.2_Silent_p.L388L|FGD4_uc010ske.1_Silent_p.L844L|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	732	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AGAAGTGGCTGAAAGTCATCC	0.493		NA											5	67					0	0	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675202	54675202	+	Silent	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:54675202C>G	uc001sfl.2	+	2	152	c.48C>G	c.(46-48)CTC>CTG	p.L16L	CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Silent_p.L16L|HNRNPA1_uc009zng.2_Silent_p.L16L|HNRNPA1_uc009znh.2_Silent_p.L16L|HNRNPA1_uc009zni.2_Silent_p.L16L|HNRNPA1_uc001sfn.2_Silent_p.L16L|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_5'UTR|HNRNPA1_uc009znj.1_5'Flank	NM_031157	NP_112420	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	16	Globular A domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			skin(2)|ovary(1)	3						TGAGGAAGCTCTTCATTGGAG	0.493		NA											9	91					0	0	0	0
CNPY2	10330	broad.mit.edu	37	12	56704786	56704786	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:56704786C>T	uc001sku.1	-	5	1002	c.461G>A	c.(460-462)CGA>CAA	p.R154Q		NM_014255	NP_055070	Q9Y2B0	CNPY2_HUMAN	canopy 2 homolog precursor	154	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding				0						GTCAGCCTCTCGGGAAAAGAA	0.478		NA											7	106					0	0	0	0
NAB2	4665	broad.mit.edu	37	12	57485439	57485439	+	Silent	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:57485439G>C	uc001smz.2	+	2	993	c.615G>C	c.(613-615)TCG>TCC	p.S205S		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	205					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2						AGGCTGGCTCGCCCCCCTTCT	0.726		NA											6	36					0	0	0	0
XPOT	11260	broad.mit.edu	37	12	64812808	64812808	+	Silent	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:64812808C>G	uc001ssb.2	+	6	849	c.423C>G	c.(421-423)CTC>CTG	p.L141L	XPOT_uc009zqm.1_Silent_p.L51L	NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	141	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		GAGTAGATCTCTACCTGCGAA	0.398		NA											4	266					0	0	0	0
MYCBP2	23077	broad.mit.edu	37	13	77759426	77759426	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr13:77759426C>G	uc001vkf.2	-	33	4508	c.4417G>C	c.(4417-4419)GAA>CAA	p.E1473Q	MYCBP2_uc010aev.2_Missense_Mutation_p.E877Q	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCAACTCCTTCTGATAAAATT	0.378		NA											14	366					0	0	0	0
SCEL	8796	broad.mit.edu	37	13	78214885	78214885	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr13:78214885A>G	uc001vki.2	+	31	2083	c.1913A>G	c.(1912-1914)GAA>GGA	p.E638G	SCEL_uc001vkj.2_Missense_Mutation_p.E618G|SCEL_uc010thx.1_Missense_Mutation_p.E596G	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	638	LIM zinc-binding.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ATTTTAGATGAATTACAAATT	0.279		NA											7	93					0	0	0	0
CARKD	55739	broad.mit.edu	37	13	111287916	111287916	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr13:111287916C>G	uc001vrb.2	+	8	767	c.753C>G	c.(751-753)ATC>ATG	p.I251M	CARKD_uc010tjj.1_Missense_Mutation_p.I233M|CARKD_uc001vqz.2_RNA|CARKD_uc001vra.2_RNA|CARKD_uc010tjk.1_Missense_Mutation_p.I141M|CARKD_uc010tjl.1_Missense_Mutation_p.I120M|CARKD_uc001vrc.2_Missense_Mutation_p.I251M			Q8IW45	CARKD_HUMAN	RecName: Full=Carbohydrate kinase domain-containing protein; Flags: Precursor;	251	YjeF C-terminal.									skin(1)	1						AGCGCGACATCCTCTCCAACG	0.622		NA											4	52					0	0	0	0
SOS2	6655	broad.mit.edu	37	14	50655318	50655318	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:50655318C>G	uc001wxs.3	-	5	709	c.611G>C	c.(610-612)AGA>ACA	p.R204T	SOS2_uc010tql.1_Missense_Mutation_p.R204T	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	204	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					GATTTCAGTTCTGACAAGATC	0.358		NA											7	38					0	0	0	0
C14orf102	55051	broad.mit.edu	37	14	90756719	90756719	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:90756719C>T	uc001xyi.1	-	10	2106	c.2075G>A	c.(2074-2076)CGC>CAC	p.R692H	C14orf102_uc010atp.1_Missense_Mutation_p.R197H|C14orf102_uc001xyj.1_Missense_Mutation_p.R461H|C14orf102_uc001xyk.1_5'Flank	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	692							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CCTATCCATGCGGCCAACACA	0.488		NA											3	36					0	0	0	0
CCNK	8812	broad.mit.edu	37	14	99959906	99959906	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:99959906C>T	uc001ygi.3	+	3	383	c.253C>T	c.(253-255)CAT>TAT	p.H85Y	CCNK_uc001ygg.3_Missense_Mutation_p.H85Y	NM_001099402	NP_001092872	O75909	CCNK_HUMAN	cyclin K isoform 1	85					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding				0		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CTATATGTTTCATTCCTTCAA	0.318		NA											8	70					0	0	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102449517	102449517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:102449517C>T	uc001yks.2	+	6	1287	c.1123C>T	c.(1123-1125)CAG>TAG	p.Q375*		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	375	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						ATATCCTATTCAGAGGGCACT	0.418		NA											10	58					0	0	0	0
ADSSL1	122622	broad.mit.edu	37	14	105208279	105208279	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:105208279C>T	uc001ypd.2	+	9	962	c.888C>T	c.(886-888)GGC>GGT	p.G296G	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Silent_p.G339G|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	296					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	ACGTGTATGGCGTGGTGAAAG	0.637		NA											4	99					0	0	0	0
EXD1	161829	broad.mit.edu	37	15	41476734	41476734	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr15:41476734G>A	uc001znk.2	-	10	1131	c.940C>T	c.(940-942)CGC>TGC	p.R314C	EXD1_uc001znj.2_Missense_Mutation_p.R112C|EXD1_uc010ucv.1_Missense_Mutation_p.R372C	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	314					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1						TTCTCCCTGCGCTGCTTCTGG	0.453		NA											24	65					0	0	0	0
CLDN9	9080	broad.mit.edu	37	16	3063730	3063730	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr16:3063730G>C	uc010uwo.1	+	1	1274	c.367G>C	c.(367-369)GTC>CTC	p.V123L		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	123	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CACCGCGGGGGTCATCCTCCT	0.657		NA											13	85					0	0	0	0
MEFV	4210	broad.mit.edu	37	16	3304457	3304457	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr16:3304457C>T	uc002cun.1	-	2	651	c.611G>A	c.(610-612)CGC>CAC	p.R204H		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	204					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.R204C(1)		central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	GGCGTTTCTGCGCAGCCGGAC	0.766		NA											4	27					0	0	0	0
ALG1	56052	broad.mit.edu	37	16	5129756	5129756	+	Silent	SNP	A	A	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr16:5129756A>G	uc002cym.2	+	9	950	c.909A>G	c.(907-909)GAA>GAG	p.E303E	ALG1_uc002cyj.2_Silent_p.E192E|ALG1_uc002cyn.2_Silent_p.E303E|ALG1_uc010bue.2_Silent_p.E192E|ALG1_uc010uxy.1_Silent_p.E192E	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase	303	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(90;0.0164)				CAGAGTTTGAACAACTGACTC	0.348		NA											3	126					0	0	0	0
CDH8	1006	broad.mit.edu	37	16	62055210	62055210	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr16:62055210T>C	uc002eog.1	-	2	350	c.98A>G	c.(97-99)AAT>AGT	p.N33S		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	33					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTGAGACTGATTCATCGGAGC	0.443		NA											14	68					0	0	0	0
NLRP1	22861	broad.mit.edu	37	17	5462454	5462454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:5462454C>T	uc002gci.2	-	4	2117	c.1562G>A	c.(1561-1563)TGG>TAG	p.W521*	NLRP1_uc002gcg.1_Nonsense_Mutation_p.W521*|NLRP1_uc002gck.2_Nonsense_Mutation_p.W521*|NLRP1_uc002gcj.2_Nonsense_Mutation_p.W521*|NLRP1_uc002gcl.2_Nonsense_Mutation_p.W521*|NLRP1_uc002gch.3_Nonsense_Mutation_p.W521*|NLRP1_uc010clh.2_Nonsense_Mutation_p.W521*	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	521	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				CCAGGACACCCAGGGCACAAG	0.478		NA											7	94					0	0	0	0
MYH10	4628	broad.mit.edu	37	17	8383453	8383453	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:8383453C>G	uc002gll.2	-	38	5575	c.5479G>C	c.(5479-5481)GAG>CAG	p.E1827Q	MYH10_uc002glm.2_Missense_Mutation_p.E1858Q|MYH10_uc010cnx.2_Missense_Mutation_p.E1836Q	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1827	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						AGCTGCTCCTCCAGCTGCCCA	0.522		NA											6	92					0	0	0	0
DNAH9	1770	broad.mit.edu	37	17	11573107	11573107	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:11573107C>T	uc002gne.2	+	17	3417	c.3349C>T	c.(3349-3351)CAC>TAC	p.H1117Y	DNAH9_uc010coo.2_Missense_Mutation_p.H411Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1117	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACGTCACTCACAGGTACAA	0.408		NA											13	122					0	0	0	0
RICH2	9912	broad.mit.edu	37	17	12862203	12862203	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:12862203C>A	uc002gnr.3	+	16	1839	c.1512C>A	c.(1510-1512)TAC>TAA	p.Y504*	RICH2_uc010vvk.1_Nonsense_Mutation_p.Y504*|RICH2_uc010vvl.1_Nonsense_Mutation_p.Y504*|RICH2_uc002gns.3_Nonsense_Mutation_p.Y304*|RICH2_uc010vvm.1_Nonsense_Mutation_p.Y504*|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_Nonsense_Mutation_p.Y227*	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	504					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						TGGAGTTTTACAAAAAGGATG	0.572		NA											3	20					0.00909568	0.00959505	1	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305839	39305839	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:39305839A>T	uc002hwb.2	-	1	216	c.181T>A	c.(181-183)TGC>AGC	p.C61S		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	61	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].|9.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgcagcagctaggg	0.274		NA											3	36					0	0	0	0
OR4D2	124538	broad.mit.edu	37	17	56247069	56247069	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:56247069C>G	uc010wnp.1	+	1	53	c.53C>G	c.(52-54)TCG>TGG	p.S18W		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						CTGGGGCTCTCGCAGACTCGG	0.468		NA											11	89					0	0	0	0
ACE	1636	broad.mit.edu	37	17	61573862	61573862	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:61573862C>T	uc002jau.1	+	23	3510	c.3488C>T	c.(3487-3489)GCC>GTC	p.A1163V	ACE_uc002jav.1_Missense_Mutation_p.A589V|ACE_uc010ddv.1_Missense_Mutation_p.A390V|ACE_uc010wpj.1_Intron|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Intron	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	1163	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCCAAGGAGGCCGGGCAGCGC	0.627		NA											5	41					0	0	0	0
BPTF	2186	broad.mit.edu	37	17	65888058	65888058	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:65888058C>T	uc002jgf.2	+	5	2024	c.1963C>T	c.(1963-1965)CGG>TGG	p.R655W	BPTF_uc002jge.2_Missense_Mutation_p.R781W|BPTF_uc010wqm.1_Missense_Mutation_p.R718W	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	781					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CACCAGATTGCGGAATCCAGA	0.478		NA											9	21					0	0	0	0
TMEM104	54868	broad.mit.edu	37	17	72832494	72832494	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:72832494G>A	uc002jls.3	+	10	1321	c.1159G>A	c.(1159-1161)GAG>AAG	p.E387K	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.E387K	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	387	Cytoplasmic (Potential).					integral to membrane					0	all_lung(278;0.23)					CTTCCACCGCGAGGGCGGCAC	0.632		NA											4	104					0	0	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr18:14513675T>C	uc010dln.2	-	10	1973	c.1519A>G	c.(1519-1521)AAA>GAA	p.K507E	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	507	Potential.									skin(3)	3						GAATTCATTTTCTTTTCAGCC	0.284		NA											3	103					0	0	0	0
ZFR2	23217	broad.mit.edu	37	19	3823275	3823275	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:3823275G>A	uc002lyw.2	-	8	1352	c.1340C>T	c.(1339-1341)GCG>GTG	p.A447V	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	447						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CACCGGCTGCGCATCAGAGCA	0.617		NA											40	68					0	0	0	0
SAFB	6294	broad.mit.edu	37	19	5667168	5667168	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:5667168C>G	uc002mcf.2	+	18	2499	c.2446C>G	c.(2446-2448)CCC>GCC	p.P816A	SAFB_uc002mcg.2_Missense_Mutation_p.P816A|SAFB_uc002mce.3_Missense_Mutation_p.P815A|SAFB_uc010xir.1_Missense_Mutation_p.P815A|SAFB_uc010xis.1_Missense_Mutation_p.P747A|SAFB_uc010xit.1_Missense_Mutation_p.P658A|SAFB_uc010xiu.1_Missense_Mutation_p.P615A	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	816	Interaction with SAFB2.|Arg-rich.|Gly-rich.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GCTGCCTCCTCCCCCCAGGTT	0.697		NA											3	22					0	0	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8656945	8656945	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:8656945C>G	uc002mkj.1	-	14	1904	c.1630G>C	c.(1630-1632)GAG>CAG	p.E544Q	ADAMTS10_uc002mki.1_Missense_Mutation_p.Q34H|ADAMTS10_uc002mkk.1_Missense_Mutation_p.E176Q	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	544	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						TCCACACCCTCTGGGCGCGAC	0.687		NA											3	19					0	0	0	0
RYR1	6261	broad.mit.edu	37	19	38951142	38951142	+	Silent	SNP	C	C	A	rs142548565		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:38951142C>A	uc002oit.2	+	20	2618	c.2488C>A	c.(2488-2490)CGG>AGG	p.R830R	RYR1_uc002oiu.2_Silent_p.R830R	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	830	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGTATCGACGGGAGGGGCC	0.632		NA											16	112					6.72e-11	7.44e-11	1	0
RYR1	6261	broad.mit.edu	37	19	38985060	38985060	+	Missense_Mutation	SNP	G	G	A	rs147197176		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:38985060G>A	uc002oit.2	+	39	6473	c.6343G>A	c.(6343-6345)GAG>AAG	p.E2115K	RYR1_uc002oiu.2_Missense_Mutation_p.E2115K|RYR1_uc002oiv.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2115	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGAGCCCCGAGCTGGTGCG	0.667		NA											3	36					0	0	0	0
NAPA	8775	broad.mit.edu	37	19	48018174	48018174	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:48018174C>T	uc002pha.1	-	1	324	c.24G>A	c.(22-24)GCG>GCA	p.A8A	NAPA_uc002phb.1_Silent_p.A8A|NAPA_uc002phc.1_5'UTR|NAPA_uc002phd.1_Silent_p.A8A|NAPA_uc010elf.1_5'UTR|NAPA_uc010elg.1_RNA|NAPA_uc002phe.2_Silent_p.A8A	NM_003827	NP_003818	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment	8					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CCATCGCCTCCGCTTCCTTCC	0.652		NA											16	18					0	0	0	0
ADCY3	109	broad.mit.edu	37	2	25043595	25043595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:25043595G>A	uc002rfs.3	-	20	3449	c.3250C>T	c.(3250-3252)CAG>TAG	p.Q1084*	ADCY3_uc002rfr.3_Nonsense_Mutation_p.Q671*|ADCY3_uc010ykm.1_Nonsense_Mutation_p.Q1085*	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	1084	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGACATACCTGAATGTTGCCC	0.597		NA											9	73					0	0	0	0
C2orf56	55471	broad.mit.edu	37	2	37474742	37474742	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:37474742A>T	uc002rqa.3	+	9	1155	c.1080A>T	c.(1078-1080)TTA>TTT	p.L360F	C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Missense_Mutation_p.L262F|C2orf56_uc010ynk.1_Missense_Mutation_p.L289F|C2orf56_uc010ynl.1_Missense_Mutation_p.L333F|C2orf56_uc010fah.2_RNA	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	hypothetical protein LOC55471 isoform 1	360					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)	1		all_hematologic(82;0.21)				ACACATTTTTAAAAAATATGG	0.343		NA											9	51					0	0	0	0
GFPT1	2673	broad.mit.edu	37	2	69565126	69565126	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:69565126C>T	uc002sfh.2	-	14	1511	c.1332G>A	c.(1330-1332)GTG>GTA	p.V444V		NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	462	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			skin(1)	1						TTGTGATCCCCACAGTTAAAG	0.448		NA											52	90					0	0	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489551	133489551	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:133489551C>T	uc002ttp.2	-	17	5576	c.5202G>A	c.(5200-5202)TCG>TCA	p.S1734S	NCKAP5_uc002ttq.2_Silent_p.S415S	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1734							protein binding				0						AGCGTCCTGTCGAGCGATTTC	0.547		NA											4	35					0	0	0	0
ZAK	51776	broad.mit.edu	37	2	174104208	174104208	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:174104208C>G	uc002uhz.2	+	16	1543	c.1343C>G	c.(1342-1344)CCA>CGA	p.P448R	uc002uib.2_Intron	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	448					activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|stomach(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.176)			CACTTGAAACCAGGAACTGGC	0.388		NA											8	48					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179437281	179437281	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:179437281C>T	uc010zfg.1	-	275	66098	c.65874G>A	c.(65872-65874)CTG>CTA	p.L21958L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L15653L|TTN_uc010zfi.1_Silent_p.L15586L|TTN_uc010zfj.1_Silent_p.L15461L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22885							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)			CTTTTACCTTCAGATCCTGTG	0.433		NA											6	70					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179595271	179595271	+	Missense_Mutation	SNP	C	C	G	rs72648946	by1000genomes	TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:179595271C>G	uc010zfg.1	-	58	14481	c.14257G>C	c.(14257-14259)GCA>CCA	p.A4753P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A1414P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5680							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)			TTGTGCCCTGCCTTATTTGTG	0.383		NA											13	113					0	0	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174876	207174876	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:207174876A>G	uc002vbp.2	+	5	5874	c.5624A>G	c.(5623-5625)AAG>AGG	p.K1875R		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1875							nucleic acid binding|zinc ion binding			ovary(3)	3						GGGAAAAAAAAGGTTACCTGG	0.418		NA											8	44					0	0	0	0
MDH1B	130752	broad.mit.edu	37	2	207615717	207615717	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:207615717C>T	uc002vbs.2	-	6	1048	c.993G>A	c.(991-993)GAG>GAA	p.E331E	MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Silent_p.E331E|MDH1B_uc010fuj.2_Silent_p.E233E|MDH1B_uc002vbt.2_Intron	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	331					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AAATGGCACTCTCATATCTGT	0.353		NA											11	69					0	0	0	0
MAVS	57506	broad.mit.edu	37	20	3844977	3844977	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr20:3844977A>C	uc002wjw.3	+	6	869	c.700A>C	c.(700-702)ACC>CCC	p.T234P	MAVS_uc002wjx.3_Missense_Mutation_p.T93P|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	234	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						GGCCCGTTCCACCCCCAGGGC	0.632		NA											8	73					0	0	0	0
FITM2	128486	broad.mit.edu	37	20	42935537	42935537	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr20:42935537G>A	uc002xlr.1	-	2	618	c.517C>T	c.(517-519)CTG>TTG	p.L173L		NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	173	Cytoplasmic (Potential).				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				skin(2)	2						ACCTCATGCAGCACAGACATC	0.557		NA											3	38					0	0	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871898	51871898	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr20:51871898T>C	uc002xwo.2	+	2	2857	c.1901T>C	c.(1900-1902)TTC>TCC	p.F634S		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	634					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			GGCGATTCTTTCCGCAAAAGT	0.517		NA											20	92					0	0	0	0
INPP5J	27124	broad.mit.edu	37	22	31529912	31529912	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr22:31529912C>T	uc003aju.3	+	13	2620	c.2528C>T	c.(2527-2529)TCC>TTC	p.S843F	INPP5J_uc003ajv.3_Missense_Mutation_p.S476F|INPP5J_uc003ajs.3_Missense_Mutation_p.S476F|INPP5J_uc011alk.1_Missense_Mutation_p.S776F|INPP5J_uc010gwg.2_Missense_Mutation_p.S408F|INPP5J_uc003ajw.2_3'UTR|INPP5J_uc003ajt.3_Missense_Mutation_p.S475F|INPP5J_uc003ajx.2_Missense_Mutation_p.S208F|INPP5J_uc003ajy.2_Missense_Mutation_p.S182F|INPP5J_uc003ajz.2_Missense_Mutation_p.S283F	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	phosphatidylinositol (4,5) bisphosphate	843	Ser-rich.					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			skin(1)	1						TCGCTGCCTTCCTCGGAGTTG	0.652		NA											6	12					0	0	0	0
PACSIN2	11252	broad.mit.edu	37	22	43308053	43308053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr22:43308053C>A	uc010gzg.2	-	2	256	c.34G>T	c.(34-36)GAA>TAA	p.E12*	PACSIN2_uc003bdg.3_Nonsense_Mutation_p.E12*|PACSIN2_uc003bde.3_Nonsense_Mutation_p.E12*|PACSIN2_uc003bdf.3_Nonsense_Mutation_p.E12*	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	12	FCH.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				CTGGACACTTCTACTCCAACG	0.468		NA											7	44					8.13e-05	8.78e-05	1	0
TTLL8	164714	broad.mit.edu	37	22	50479626	50479626	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr22:50479626C>T	uc011ark.1	-	8	911	c.911G>A	c.(910-912)CGA>CAA	p.R304Q		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CTGCCTGTCTCGGGCTGTGGG	0.567		NA											4	79					0	0	0	0
FANCD2	2177	broad.mit.edu	37	3	10088287	10088287	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:10088287C>T	uc003buw.2	+	15	1236	c.1158C>T	c.(1156-1158)TTC>TTT	p.F386F	FANCD2_uc003bux.1_Silent_p.F386F|FANCD2_uc003buy.1_Silent_p.F386F|FANCD2_uc010hcw.1_5'Flank	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	386					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGATGCTTTTCATCATCTATA	0.373		NA	D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				6	39					0	0	0	0
SETD2	29072	broad.mit.edu	37	3	47164195	47164195	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:47164195T>A	uc003cqs.2	-	3	1984	c.1931A>T	c.(1930-1932)GAT>GTT	p.D644V	SETD2_uc003cqv.2_Missense_Mutation_p.D633V	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCATGGCTATCATGTGTTAT	0.313		NA	N|F|S|Mis		clear cell renal carcinoma								4	64					0	0	0	0
SETD2	29072	broad.mit.edu	37	3	47164342	47164342	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:47164342G>A	uc003cqs.2	-	3	1837	c.1784C>T	c.(1783-1785)TCA>TTA	p.S595L	SETD2_uc003cqv.2_Missense_Mutation_p.S584L	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACTACCTTTTGAACAAGGTGT	0.308		NA	N|F|S|Mis		clear cell renal carcinoma								8	45					0	0	0	0
ATR	545	broad.mit.edu	37	3	142285095	142285095	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:142285095C>G	uc003eux.3	-	3	282	c.160G>C	c.(160-162)GAA>CAA	p.E54Q		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	54					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TTTACAAGTTCTACAGCAACT	0.328		NA						Other_conserved_DNA_damage_response_genes					3	48					0	0	0	0
HLTF	6596	broad.mit.edu	37	3	148768099	148768099	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:148768099C>G	uc003ewq.1	-	15	1755	c.1537G>C	c.(1537-1539)GAT>CAT	p.D513H	HLTF_uc003ewr.1_Missense_Mutation_p.D513H|HLTF_uc003ews.1_Missense_Mutation_p.D512H|HLTF_uc010hve.1_Missense_Mutation_p.D512H	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	513	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTAATACGATCAGGACCATAA	0.299		NA											6	114					0	0	0	0
SI	6476	broad.mit.edu	37	3	164724661	164724661	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:164724661A>C	uc003fei.2	-	37	4411	c.4349T>G	c.(4348-4350)GTT>GGT	p.V1450G		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1450	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTAATGCAAAACTGATGTTCC	0.358		NA								HNSCC(35;0.089)			10	32					0	0	0	0
STX18	53407	broad.mit.edu	37	4	4543567	4543567	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:4543567C>T	uc003gic.2	-	1	209	c.125G>A	c.(124-126)AGC>AAC	p.S42N	uc003gid.2_5'Flank	NM_016930	NP_058626	Q9P2W9	STX18_HUMAN	syntaxin 18	42	Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		GGGCCGGGGGCTCCGGCGGAA	0.701		NA											3	18					0	0	0	0
SHROOM3	57619	broad.mit.edu	37	4	77476765	77476765	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:77476765G>A	uc011cbx.1	+	2	1125	c.172G>A	c.(172-174)GAA>AAA	p.E58K		NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	58	PDZ.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			CAAGCAGGTCGAAGAAGGGGG	0.602		NA											5	36					0	0	0	0
LRBA	987	broad.mit.edu	37	4	151392835	151392835	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:151392835C>T	uc010ipj.2	-	44	7115	c.6641G>A	c.(6640-6642)CGA>CAA	p.R2214Q	LRBA_uc003ils.3_Missense_Mutation_p.R104Q|LRBA_uc003ilt.3_Missense_Mutation_p.R862Q|LRBA_uc003ilu.3_Missense_Mutation_p.R2203Q	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2214	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					GTGTTGCCATCGCTGGGTCAT	0.328		NA											11	100					0	0	0	0
FGA	2243	broad.mit.edu	37	4	155506821	155506821	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:155506821G>A	uc003iod.1	-	5	1818	c.1760C>T	c.(1759-1761)ACG>ATG	p.T587M	FGA_uc003ioe.1_Missense_Mutation_p.T587M|FGA_uc003iof.1_3'UTR	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	587	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTTGTAACTCGTGCTACTAGT	0.433		NA											28	75					0	0	0	0
GRIA2	2891	broad.mit.edu	37	4	158242702	158242702	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:158242702C>T	uc003ipm.3	+	6	1292	c.833C>T	c.(832-834)TCA>TTA	p.S278L	GRIA2_uc011cit.1_Missense_Mutation_p.S231L|GRIA2_uc003ipl.3_Missense_Mutation_p.S278L|GRIA2_uc003ipk.3_Missense_Mutation_p.S231L|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	278	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GAAAGATGGTCAACACTGGAA	0.368		NA											10	91					0	0	0	0
DDX60L	91351	broad.mit.edu	37	4	169300950	169300950	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:169300950G>C	uc003irq.3	-	31	4369	c.4148C>G	c.(4147-4149)TCT>TGT	p.S1383C		NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1383							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCTCTTAAAAGACAGCAATGA	0.323		NA											6	30					0	0	0	0
LRRC14B	389257	broad.mit.edu	37	5	195216	195216	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:195216C>T	uc003jal.1	+	2	1321	c.1293C>T	c.(1291-1293)CCC>CCT	p.P431P		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	431										skin(1)	1						ACTGCTACCCCGAGGGTGCCG	0.672		NA											25	119					0	0	0	0
GHR	2690	broad.mit.edu	37	5	42711358	42711358	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:42711358A>G	uc003jmt.2	+	7	711	c.668A>G	c.(667-669)GAT>GGT	p.D223G	GHR_uc011cpq.1_Missense_Mutation_p.D36G	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	223	Extracellular (Potential).|Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTGAAAGTGGATAAGGAATAT	0.398		NA											45	83					0	0	0	0
GZMA	3001	broad.mit.edu	37	5	54403737	54403737	+	Missense_Mutation	SNP	C	C	T	rs150441571	byFrequency	TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:54403737C>T	uc003jpm.2	+	3	368	c.331C>T	c.(331-333)CGC>TGC	p.R111C		NM_006144	NP_006135	P12544	GRAA_HUMAN	granzyme A precursor	111	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CCCAGCCACACGCGAAGGTGA	0.443		NA											6	62					0	0	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347664	140347664	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:140347664C>T	uc003lii.2	+	1	1553	c.1313C>T	c.(1312-1314)ACG>ATG	p.T438M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.T438M	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	438	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAACATCACGGTGACAGCC	0.552		NA											26	93					0	0	0	0
PDGFRB	5159	broad.mit.edu	37	5	149500844	149500844	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:149500844G>A	uc003lro.2	-	17	2855	c.2386C>T	c.(2386-2388)CCA>TCA	p.P796S	PDGFRB_uc010jhd.2_Missense_Mutation_p.P635S	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	796	Cytoplasmic (Potential).|Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTAGCACTGGAGACTCGTTG	0.562		NA	T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								5	60					0	0	0	0
GEMIN5	25929	broad.mit.edu	37	5	154287226	154287226	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:154287226C>G	uc003lvx.3	-	16	2403	c.2320G>C	c.(2320-2322)GAG>CAG	p.E774Q	GEMIN5_uc011ddk.1_Missense_Mutation_p.E773Q	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	774					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACACCATTCTCAACAGGTCCT	0.498		NA											14	101					0	0	0	0
TRIM41	90933	broad.mit.edu	37	5	180651243	180651243	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:180651243T>G	uc003mne.1	+	1	938	c.244T>G	c.(244-246)TGG>GGG	p.W82G	uc003mnb.1_3'UTR|TRIM41_uc003mnc.1_Missense_Mutation_p.W82G|TRIM41_uc003mnd.1_Missense_Mutation_p.W82G|TRIM41_uc003mnf.1_RNA	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	82	Glu-rich.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCGCGGGGTGGGACACCCC	0.493		NA											14	76					0	0	0	0
SYCP2L	221711	broad.mit.edu	37	6	10903148	10903148	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr6:10903148G>C	uc003mzo.2	+	8	889	c.593G>C	c.(592-594)CGA>CCA	p.R198P	SYCP2L_uc011din.1_Missense_Mutation_p.R39P|SYCP2L_uc010jow.2_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	198						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GCTGTCCCTCGAGAAGAGAGA	0.388		NA											5	40					0	0	0	0
MDN1	23195	broad.mit.edu	37	6	90440541	90440541	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr6:90440541G>A	uc003pnn.1	-	35	5160	c.5044C>T	c.(5044-5046)CAG>TAG	p.Q1682*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1682					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCATTTTTCTGATATTCTGTA	0.378		NA											6	42					0	0	0	0
LIN28B	389421	broad.mit.edu	37	6	105526438	105526438	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr6:105526438G>A	uc003pqv.1	+	4	736	c.533G>A	c.(532-534)GGA>GAA	p.G178E	LIN28B_uc010kda.1_3'UTR	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	lin-28 homolog B	178					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding				0		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AGTTCTCAGGGAAGACAGGAA	0.547		NA											3	26					0	0	0	0
COX19	90639	broad.mit.edu	37	7	1015111	1015111	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:1015111A>T	uc003sjp.1	-	1	125	c.35T>A	c.(34-36)TTC>TAC	p.F12Y	ADAP1_uc010ksc.2_5'UTR	NM_001031617	NP_001026788	Q49B96	COX19_HUMAN	COX19 cytochrome c oxidase assembly homolog	12						cytosol					0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		CCGCGGCTGGAAGCTCTTGGT	0.701		NA											3	15					0	0	0	0
SDK1	221935	broad.mit.edu	37	7	3991530	3991530	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:3991530G>A	uc003smx.2	+	7	1267	c.1128G>A	c.(1126-1128)GCG>GCA	p.A376A		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	376	Ig-like C2-type 3.				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)		CGGCCAGGGCGACGGCCTTTC	0.577		NA											3	32					0	0	0	0
DGKB	1607	broad.mit.edu	37	7	14378223	14378223	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:14378223C>T	uc003ssz.2	-	22	2229	c.2042G>A	c.(2041-2043)CGA>CAA	p.R681Q	DGKB_uc011jxt.1_Missense_Mutation_p.R662Q|DGKB_uc003sta.2_Missense_Mutation_p.R681Q|DGKB_uc011jxu.1_Missense_Mutation_p.R680Q	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	681					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	TCGATGGCTTCGTCTTTTCTT	0.398		NA											13	98					0	0	0	0
EGFR	1956	broad.mit.edu	37	7	55220268	55220268	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:55220268T>C	uc003tqk.2	+	6	904	c.658T>C	c.(658-660)TCC>CCC	p.S220P	EGFR_uc003tqh.2_Missense_Mutation_p.S220P|EGFR_uc003tqi.2_Missense_Mutation_p.S220P|EGFR_uc003tqj.2_Missense_Mutation_p.S220P|EGFR_uc010kzg.1_Missense_Mutation_p.S175P|EGFR_uc011kco.1_Missense_Mutation_p.S167P|EGFR_uc003tql.1_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	220	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCAGCAGTGCTCCGGGCGCTG	0.597		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5	562					0	0	0	0
MAGI2	9863	broad.mit.edu	37	7	77885755	77885755	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:77885755C>T	uc003ugx.2	-	10	1806	c.1552G>A	c.(1552-1554)GAC>AAC	p.D518N	MAGI2_uc003ugy.2_Missense_Mutation_p.D518N|MAGI2_uc010ldx.1_Missense_Mutation_p.D127N|MAGI2_uc010ldy.1_Missense_Mutation_p.D127N|MAGI2_uc011kgr.1_Missense_Mutation_p.D350N|MAGI2_uc011kgs.1_Missense_Mutation_p.D355N	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	518						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTAGCAGGGTCTTCAGGATCA	0.473		NA											3	31					0	0	0	0
GRM3	2913	broad.mit.edu	37	7	86415655	86415655	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:86415655C>T	uc003uid.2	+	3	1646	c.547C>T	c.(547-549)CGC>TGC	p.R183C	GRM3_uc010lef.2_Missense_Mutation_p.R181C|GRM3_uc010leg.2_Missense_Mutation_p.R55C|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	183	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGATAAGTCGCGCTATGATTA	0.562		NA											45	74					0	0	0	0
PDAP1	11333	broad.mit.edu	37	7	98998040	98998040	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:98998040C>T	uc003uqe.2	-	4	342	c.221G>A	c.(220-222)CGC>CAC	p.R74H		NM_014891	NP_055706	Q13442	HAP28_HUMAN	PDGFA associated protein 1	74					cell proliferation|signal transduction						0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	AACGCCTTTGCGCTTTTGCTA	0.557		NA											7	35					0	0	0	0
IMPDH1	3614	broad.mit.edu	37	7	128034398	128034398	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:128034398C>G	uc011kol.1	-	13	1563	c.1457G>C	c.(1456-1458)GGA>GCA	p.G486A	IMPDH1_uc011kom.1_Missense_Mutation_p.G481A|IMPDH1_uc003vmt.2_Missense_Mutation_p.G461A|IMPDH1_uc003vmu.2_Missense_Mutation_p.G571A|IMPDH1_uc003vmw.2_Missense_Mutation_p.G561A|IMPDH1_uc011kon.1_Missense_Mutation_p.G538A|IMPDH1_uc003vmv.2_Missense_Mutation_p.G535A|IMPDH1_uc003vmx.2_Missense_Mutation_p.G494A|IMPDH1_uc003vmy.2_Missense_Mutation_p.G502A|uc011koo.1_5'Flank	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	486					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CTTGAGCTCTCCTGAGTACAT	0.577		NA											3	43					0	0	0	0
IMPDH1	3614	broad.mit.edu	37	7	128034977	128034977	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:128034977C>G	uc011kol.1	-	11	1367	c.1261G>C	c.(1261-1263)GAG>CAG	p.E421Q	IMPDH1_uc011kom.1_Missense_Mutation_p.E416Q|IMPDH1_uc003vmt.2_Missense_Mutation_p.E396Q|IMPDH1_uc003vmu.2_Missense_Mutation_p.E506Q|IMPDH1_uc003vmw.2_Missense_Mutation_p.E496Q|IMPDH1_uc011kon.1_Missense_Mutation_p.E473Q|IMPDH1_uc003vmv.2_Missense_Mutation_p.E470Q|IMPDH1_uc003vmx.2_Missense_Mutation_p.E429Q|IMPDH1_uc003vmy.2_Missense_Mutation_p.E437Q|uc011koo.1_5'Flank	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	421					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CTGCTCTTCTCCATGGCATCC	0.637		NA											3	62					0	0	0	0
FAM71F2	346653	broad.mit.edu	37	7	128317777	128317777	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:128317777G>C	uc003vnk.3	+	3	631	c.525G>C	c.(523-525)CAG>CAC	p.Q175H	FAM71F2_uc010llm.1_Missense_Mutation_p.Q166H|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN	hypothetical protein LOC346653 isoform a	175											0						AAATTCTGCAGAAAGGCCTGT	0.488		NA											4	43					0	0	0	0
ATP6V0E2	155066	broad.mit.edu	37	7	149575776	149575776	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:149575776C>T	uc003wgr.2	+	3	1260	c.309C>T	c.(307-309)ATC>ATT	p.I103I	ATP6V0E2_uc003wgs.2_Intron|ATP6V0E2_uc003wgp.2_Silent_p.I103I|ATP6V0E2_uc003wgq.2_RNA|uc003wgt.1_5'Flank	NM_145230	NP_660265	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting, V0 subunit isoform 1	54	Helical; (Potential).				ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			GCTGGCTCATCGCCATCCTGG	0.642		NA											7	28					0	0	0	0
CA8	767	broad.mit.edu	37	8	61139461	61139461	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:61139461T>C	uc003xtz.1	-	5	795	c.547A>G	c.(547-549)ACT>GCT	p.T183A	CA8_uc003xua.1_Missense_Mutation_p.T183A	NM_004056	NP_004047	P35219	CAH8_HUMAN	carbonic anhydrase VIII	183					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				AGGATTTCAGTCACAGCCTTC	0.249		NA											3	82					0	0	0	0
RALYL	138046	broad.mit.edu	37	8	85785593	85785593	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:85785593C>T	uc003ycq.3	+	8	1062	c.646C>T	c.(646-648)CGC>TGC	p.R216C	RALYL_uc003ycr.3_Missense_Mutation_p.R216C|RALYL_uc003ycs.3_Missense_Mutation_p.R216C|RALYL_uc010lzy.2_Missense_Mutation_p.R205C|RALYL_uc003yct.3_Missense_Mutation_p.R229C|RALYL_uc003ycu.3_Missense_Mutation_p.R143C|RALYL_uc003ycv.3_Missense_Mutation_p.R128C	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	216	Potential.						identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						CTTGCTAGGGCGCCTGGAGAA	0.423		NA											3	12					0	0	0	0
DPYS	1807	broad.mit.edu	37	8	105456608	105456608	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:105456608G>A	uc003yly.3	-	4	790	c.661C>T	c.(661-663)CGC>TGC	p.R221C		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	221					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCTCTGGGCGGCACAGCTCG	0.542		NA											6	56					0	0	0	0
ASAP1	50807	broad.mit.edu	37	8	131129204	131129204	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:131129204C>A	uc003yta.1	-	20	1946	c.1918G>T	c.(1918-1920)GTT>TTT	p.V640F	ASAP1_uc003ysz.1_Missense_Mutation_p.V451F|ASAP1_uc011liw.1_Missense_Mutation_p.V633F	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	640	ANK 2.				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						TAGTGTAGAACTGTGTTTCCC	0.383		NA											33	67					1.63e-12	1.81e-12	1	0
KCNK9	51305	broad.mit.edu	37	8	140631260	140631260	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:140631260C>T	uc003yvf.1	-	2	430	c.366G>A	c.(364-366)CTG>CTA	p.L122L	KCNK9_uc003yvg.1_Silent_p.L122L|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	122	Helical; (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGAACATGACCAGTGTCAGCG	0.597		NA											4	23					0	0	0	0
GPR20	2843	broad.mit.edu	37	8	142367126	142367126	+	Missense_Mutation	SNP	C	C	T	rs150478338		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:142367126C>T	uc003ywf.2	-	2	987	c.898G>A	c.(898-900)GTC>ATC	p.V300I		NM_005293	NP_005284	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	300	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CCACTGGTGACGAAGCAGTAG	0.647		NA											7	70					0	0	0	0
KIAA2026	158358	broad.mit.edu	37	9	5923143	5923143	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr9:5923143C>T	uc003zjq.3	-	8	3069	c.2853G>A	c.(2851-2853)AAG>AAA	p.K951K	KIAA2026_uc010mht.2_Silent_p.K126K	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	951										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ACTTTGCCTTCTTCCTTGGAG	0.388		NA											16	149					0	0	0	0
C9orf125	84302	broad.mit.edu	37	9	104239327	104239327	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr9:104239327C>T	uc004bbm.2	-	2	370	c.48G>A	c.(46-48)CGG>CGA	p.R16R	uc004bbl.1_5'Flank	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	hypothetical protein LOC84302	16						integral to membrane					0		Acute lymphoblastic leukemia(62;0.0527)				AGGAGAGTCGCCGCAGCCTCC	0.562		NA											9	33					0	0	0	0
SVEP1	79987	broad.mit.edu	37	9	113169875	113169875	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr9:113169875C>T	uc010mtz.2	-	38	8342	c.8005G>A	c.(8005-8007)GCT>ACT	p.A2669T	SVEP1_uc010mty.2_Missense_Mutation_p.A595T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2669	Sushi 21.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GAATGTGTAGCAGGAGACTCC	0.453		NA											56	195					0	0	0	0
SVEP1	79987	broad.mit.edu	37	9	113171187	113171187	+	Silent	SNP	A	A	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr9:113171187A>G	uc010mtz.2	-	38	7030	c.6693T>C	c.(6691-6693)TGT>TGC	p.C2231C	SVEP1_uc010mty.2_Silent_p.C157C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2231	Sushi 14.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						AGCCCGGGTTACACTGATACC	0.473		NA											28	132					0	0	0	0
GPR64	10149	broad.mit.edu	37	X	19014210	19014210	+	Missense_Mutation	SNP	C	C	T	rs142899178	byFrequency	TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:19014210C>T	uc004cyx.2	-	27	2839	c.2675G>A	c.(2674-2676)CGG>CAG	p.R892Q	GPR64_uc004cyy.2_Missense_Mutation_p.R889Q|GPR64_uc004cyz.2_Missense_Mutation_p.R878Q|GPR64_uc004czb.2_Missense_Mutation_p.R892Q|GPR64_uc004czc.2_Missense_Mutation_p.R876Q|GPR64_uc004czd.2_Missense_Mutation_p.R868Q|GPR64_uc004cze.2_Missense_Mutation_p.R862Q|GPR64_uc004czf.2_Missense_Mutation_p.R854Q|GPR64_uc004cza.2_Missense_Mutation_p.R870Q|GPR64_uc004cyw.2_Missense_Mutation_p.R876Q|GPR64_uc010nfj.2_Missense_Mutation_p.R773Q	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	892	Cytoplasmic (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					ACAAAGATACCGCCTCCATTG	0.363		NA											20	186					0	0	0	0
SAT1	6303	broad.mit.edu	37	X	23803921	23803921	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:23803921G>A	uc004dau.2	+	6	658	c.464G>A	c.(463-465)AGA>AAA	p.R155K	SAT1_uc004dav.2_RNA	NM_002970	NP_002961	P21673	SAT1_HUMAN	diamine N-acetyltransferase 1	155	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding				0					Spermine(DB00127)	GAGGGTTGGAGACTGTTCAAG	0.428		NA											15	67					0	0	0	0
HUWE1	10075	broad.mit.edu	37	X	53674496	53674496	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:53674496C>T	uc004dsp.2	-	6	568	c.166G>A	c.(166-168)GAC>AAC	p.D56N		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	56					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						TCCAACAGGTCCACCCAGTGA	0.483		NA											19	229					0	0	0	0
ITIH5L	347365	broad.mit.edu	37	X	54784515	54784515	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:54784515C>T	uc004dtj.2	-	8	2022	c.1992G>A	c.(1990-1992)GTG>GTA	p.V664V		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	664					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						ACTTTGGTTTCACAGGCCTTG	0.527		NA											11	68					0	0	0	0
NOX1	27035	broad.mit.edu	37	X	100117563	100117563	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:100117563C>T	uc004egj.2	-	6	696	c.490_splice	c.e6-1	p.T164_splice	uc010nnf.2_Intron|NOX1_uc004egl.3_Splice_Site_p.T164_splice|NOX1_uc010nne.2_Splice_Site_p.T127_splice	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long						angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1						ACTCCACTGTCTGTGAAAGGA	0.463		NA											28	239					0	0	0	0
TEX13A	56157	broad.mit.edu	37	X	104464968	104464968	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:104464968A>T	uc004ema.2	-	2	226	c.114T>A	c.(112-114)AAT>AAA	p.N38K	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.N38K	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	38						intracellular	zinc ion binding			ovary(2)	2						ATAAGGATATATTCTCAAGAT	0.572		NA											6	36					0	0	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220567	118220567	+	Silent	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:118220567T>C	uc004era.3	-	11	4626	c.4626A>G	c.(4624-4626)CAA>CAG	p.Q1542Q		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	1542										ovary(4)|skin(1)	5						GCCTGCTCTGTTGCTTATCTG	0.498		NA											16	94					0	0	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904513	144904513	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:144904513G>A	uc004fcd.2	+	5	1560	c.570G>A	c.(568-570)GGG>GGA	p.G190G	SLITRK2_uc010nsp.2_Silent_p.G190G|SLITRK2_uc010nso.2_Silent_p.G190G|SLITRK2_uc011mwq.1_Silent_p.G190G|SLITRK2_uc011mwr.1_Silent_p.G190G|SLITRK2_uc011mws.1_Silent_p.G190G|SLITRK2_uc004fcg.2_Silent_p.G190G|SLITRK2_uc011mwt.1_Silent_p.G190G	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	190	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTCAGGGGGAATAGGCTAA	0.468		NA											11	144					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578183	7578184	+	Frame_Shift_Ins	INS	-	-	GGCT	rs72661118		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:7578183_7578184insGGCT	uc002gim.2	-	6	859_860	c.665_666insAGCC	c.(664-666)CCGfs	p.P222fs	TP53_uc002gig.1_Frame_Shift_Ins_p.P222fs|TP53_uc002gih.2_Frame_Shift_Ins_p.P222fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.P90fs|TP53_uc010cng.1_Frame_Shift_Ins_p.P90fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P90fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P222fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P222fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P222fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.P129fs|TP53_uc002gio.2_Frame_Shift_Ins_p.P90fs|TP53_uc010vug.1_Frame_Shift_Ins_p.P183fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	222	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in a sporadic cancer; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> S (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.0?(7)|p.P222P(5)|p.P222L(5)|p.P222T(3)|p.P222S(2)|p.Y220_P223delYEPP(1)|p.?(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.P222Q(1)|p.P222fs*24(1)|p.P222fs*25(1)|p.P222A(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)		AGACCTCAGGCGGCTCATAGGG	0.55		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)			7	16	---	---	---	---	NA	NA	NA	NA