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
PRAMEF18	391003	broad.mit.edu	37	1	13475012	13475012	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:13475012G>T	uc009vnu.1	-	3	1164	c.1117C>A	c.(1117-1119)CTG>ATG	p.L373M		NM_001099850	NP_001093320	Q5VWM3	PRA18_HUMAN	PRAME family member 18	373											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCGGCTCAGGGCAGGCAGG	0.572		NA											6	179					0.00307968	0.00335965	1	0
CLCNKB	1188	broad.mit.edu	37	1	16375690	16375690	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:16375690C>T	uc001axw.3	+	8	811	c.731C>T	c.(730-732)ACC>ATC	p.T244I	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.T244I|CLCNKB_uc001axy.3_Missense_Mutation_p.T75I	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	244	Helical; (Potential).				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCGGCCACCTGCGGGGCC	0.657		NA											60	16					0	0	0	0
PTCH2	8643	broad.mit.edu	37	1	45293266	45293266	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:45293266G>A	uc010olf.1	-	15	2191	c.2179C>T	c.(2179-2181)CTG>TTG	p.L727L	PTCH2_uc010olg.1_Silent_p.L425L	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	727	Extracellular (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					TGGGCGCTCAGGAAGGCATGC	0.637		NA							Basal_Cell_Nevus_syndrome				32	8					0	0	0	0
WDR78	79819	broad.mit.edu	37	1	67292683	67292683	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:67292683A>G	uc001dcx.2	-	15	2215	c.2159T>C	c.(2158-2160)TTT>TCT	p.F720S	WDR78_uc009waw.2_Missense_Mutation_p.F433S|WDR78_uc009wax.2_RNA	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	720	WD 4.									ovary(2)	2						ACAGCTTAAAAATACATCATG	0.313		NA											31	40					0	0	0	0
WDR3	10885	broad.mit.edu	37	1	118497948	118497948	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:118497948A>T	uc010oxe.1	+	24	2486	c.2420A>T	c.(2419-2421)TAT>TTT	p.Y807F	WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	807						nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CCTTCAGCTTATGTATTAGAG	0.358		NA											23	3					0	0	0	0
WARS2	10352	broad.mit.edu	37	1	119619197	119619197	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:119619197G>T	uc001ehn.2	-	2	152	c.124C>A	c.(124-126)CAA>AAA	p.Q42K	WARS2_uc010oxf.1_5'UTR|WARS2_uc001ehm.2_Missense_Mutation_p.Q42K|WARS2_uc010oxg.1_Missense_Mutation_p.Q42K|WARS2_uc010oxh.1_Missense_Mutation_p.Q42K|WARS2_uc010oxi.1_5'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	42					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CCTGTAGGTTGAATGCCGGAA	0.438		NA											87	22					4e-49	5.15e-49	1	0
LCE1E	353135	broad.mit.edu	37	1	152759999	152759999	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:152759999G>C	uc001fan.2	+	2	277	c.224G>C	c.(223-225)TGC>TCC	p.C75S		NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	75	Cys-rich.				keratinization						0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGGTGGCTGCTGCCTGAGC	0.687		NA											4	117					0	0	0	0
SMG5	23381	broad.mit.edu	37	1	156233237	156233237	+	Silent	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:156233237G>C	uc001foc.3	-	13	2129	c.1980C>G	c.(1978-1980)GTC>GTG	p.V660V	SMG5_uc009wrv.2_Silent_p.V145V	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	660					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					AGTCCAGGAAGACTTTCACAG	0.597		NA											52	67					0	0	0	0
PVRL4	81607	broad.mit.edu	37	1	161049448	161049448	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:161049448T>C	uc001fxo.2	-	2	670	c.371A>G	c.(370-372)GAG>GGG	p.E124G		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	124	Ig-like V-type 1.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCACTCGTACTCGCCCTCATC	0.716		NA											6	13					0	0	0	0
KIF21B	23046	broad.mit.edu	37	1	200956237	200956237	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:200956237G>A	uc001gvs.1	-	25	3818	c.3501C>T	c.(3499-3501)TCC>TCT	p.S1167S	KIF21B_uc001gvr.1_Silent_p.S1167S|KIF21B_uc009wzl.1_Silent_p.S1167S|KIF21B_uc010ppn.1_Silent_p.S1167S	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1167					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						GGGAGGCCAGGGACTTGGTGA	0.592		NA											9	178					0	0	0	0
MYOG	4656	broad.mit.edu	37	1	203054717	203054717	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:203054717C>T	uc001gzd.2	-	1	661	c.373G>A	c.(373-375)GCC>ACC	p.A125T		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	125	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(2)	2						TACTGGATGGCACTGCGCAGG	0.672		NA											10	55					0	0	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650590	232650590	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:232650590T>C	uc001hvg.2	-	1	654	c.496A>G	c.(496-498)ATC>GTC	p.I166V		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	166					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATGTCACTGATAGTGACATCA	0.502		NA											130	19					0	0	0	0
CDH23	64072	broad.mit.edu	37	10	73405728	73405728	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:73405728C>T	uc001jrx.3	+	12	1658	c.1281C>T	c.(1279-1281)TAC>TAT	p.Y427Y	CDH23_uc001jrw.3_Silent_p.Y427Y|CDH23_uc001jry.2_Silent_p.Y43Y|CDH23_uc001jrz.2_Silent_p.Y43Y	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	427	Cadherin 4.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						TGGACCGCTACGACTTTGATG	0.587		NA											17	2					0	0	0	0
AGAP5	729092	broad.mit.edu	37	10	75435138	75435138	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:75435138G>A	uc009xri.2	-	8	1321	c.1280C>T	c.(1279-1281)ACG>ATG	p.T427M	AGAP5_uc001juu.3_Missense_Mutation_p.T388M	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	427	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						CTCCTCATACGTCGTGGCTTC	0.512		NA											125	30					0	0	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98469638	98469638	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:98469638C>T	uc001kmq.2	-	2	244	c.116G>A	c.(115-117)AGC>AAC	p.S39N		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	39						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TATCTTCTGGCTGCGGACCTG	0.622		NA											20	16					0	0	0	0
ATRNL1	26033	broad.mit.edu	37	10	117001476	117001476	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:117001476C>T	uc001lcg.2	+	10	2035	c.1649C>T	c.(1648-1650)GCA>GTA	p.A550V		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	550	Kelch 5.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGTAACGGTGCAAAATGTTTT	0.363		NA											28	3					0	0	0	0
MGMT	4255	broad.mit.edu	37	10	131565232	131565232	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr10:131565232T>G	uc001lkh.2	+	5	714	c.688T>G	c.(688-690)TCG>GCG	p.S230A		NM_002412	NP_002403	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	199										ovary(1)|breast(1)	2		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GGGAGCTACCTCGGGCTCCCC	0.637		NA						Direct_reversal_of_damage					9	31					0	0	0	0
OR56A1	120796	broad.mit.edu	37	11	6048216	6048216	+	Missense_Mutation	SNP	G	G	A	rs139301829		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:6048216G>A	uc010qzw.1	-	1	719	c.719C>T	c.(718-720)GCG>GTG	p.A240V		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	240	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCACTGCCGCCCCCTCTGC	0.498		NA											27	20					0	0	0	0
MMP20	9313	broad.mit.edu	37	11	102479679	102479679	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:102479679T>G	uc001phc.2	-	5	813	c.800A>C	c.(799-801)CAG>CCG	p.Q267P		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	267					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GTATAATGCCTGGATCCCTTT	0.433		NA											23	67					0	0	0	0
USP28	57646	broad.mit.edu	37	11	113712437	113712437	+	Silent	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:113712437A>G	uc001poh.2	-	4	355	c.322T>C	c.(322-324)TTG>CTG	p.L108L	USP28_uc010rwy.1_5'UTR|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Silent_p.L108L|USP28_uc010rwz.1_Silent_p.L108L	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	108	UIM.				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGTAGACTCAAAGCAATGGCA	0.348		NA											55	48					0	0	0	0
ABCG4	64137	broad.mit.edu	37	11	119027587	119027587	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:119027587G>C	uc001pvs.2	+	9	1267	c.931G>C	c.(931-933)GAG>CAG	p.E311Q	ABCG4_uc009zar.2_Missense_Mutation_p.E311Q	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	311	Cytoplasmic (Potential).				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCAGTCATCGAGGTGGCCTC	0.577		NA											21	101					0	0	0	0
TECTA	7007	broad.mit.edu	37	11	121016697	121016697	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr11:121016697A>G	uc010rzo.1	+	11	3977	c.3977A>G	c.(3976-3978)AAC>AGC	p.N1326S		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1326					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTCTATAAGAACTGCCTGTTT	0.567		NA											73	103					0	0	0	0
IFFO1	25900	broad.mit.edu	37	12	6659050	6659050	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:6659050G>T	uc001qpd.1	-	4	977	c.943C>A	c.(943-945)CTG>ATG	p.L315M	IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_5'Flank|IFFO1_uc001qpb.1_Translation_Start_Site|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.L315M|IFFO1_uc001qpf.1_Missense_Mutation_p.L315M|IFFO1_uc001qoz.1_5'Flank|IFFO1_uc001qpc.1_Missense_Mutation_p.L315M|IFFO1_uc001qpg.2_5'Flank	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	315						intermediate filament					0						TTGGTGTCCAGCTCCGACAGG	0.587		NA											9	9					1.13e-05	1.31e-05	1	0
SLCO1B1	10599	broad.mit.edu	37	12	21325613	21325613	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:21325613T>C	uc001req.3	+	3	218	c.114T>C	c.(112-114)TTT>TTC	p.F38F		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	38	Helical; Name=1; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CACTCAGCTTTATTGCTAAGA	0.368		NA											11	58					0	0	0	0
C12orf72	254013	broad.mit.edu	37	12	31820646	31820646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:31820646C>T	uc009zjr.2	+	4	720	c.511C>T	c.(511-513)CAA>TAA	p.Q171*	C12orf72_uc001rkl.2_Nonsense_Mutation_p.Q171*|C12orf72_uc001rkm.2_Nonsense_Mutation_p.Q171*	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN	hypothetical protein LOC254013	171						cytoplasm	protein methyltransferase activity				0						TATTTTAATCCAAAACATTTT	0.328		NA											25	19					0	0	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42858530	42858530	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:42858530C>G	uc010skv.1	-	7	1593	c.1306G>C	c.(1306-1308)GAT>CAT	p.D436H	PRICKLE1_uc001rnl.2_Missense_Mutation_p.D436H|PRICKLE1_uc010skw.1_Missense_Mutation_p.D436H|PRICKLE1_uc001rnm.2_Missense_Mutation_p.D436H	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	436					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCTCGAATATCCATCTCATTG	0.423		NA											25	52					0	0	0	0
MLL2	8085	broad.mit.edu	37	12	49448535	49448535	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:49448535C>T	uc001rta.3	-	3	177	c.177_splice	c.e3-1	p.S59_splice		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2						chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CGGACCCCCACTGTGGACACA	0.587		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			29	18					0	0	0	0
CAND1	55832	broad.mit.edu	37	12	67699816	67699816	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:67699816C>G	uc001stn.2	+	10	2805	c.2368C>G	c.(2368-2370)CTT>GTT	p.L790V	CAND1_uc001sto.2_Missense_Mutation_p.L300V	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	790	HEAT 18.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAGCACAGCTCTTACTCATAA	0.433		NA											50	44					0	0	0	0
ACSS3	79611	broad.mit.edu	37	12	81532986	81532986	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:81532986C>T	uc001szl.1	+	4	813	c.722C>T	c.(721-723)GCG>GTG	p.A241V	ACSS3_uc001szm.1_Missense_Mutation_p.A240V	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	241						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						GTAGAAGAAGCGCTAAAAATA	0.353		NA											24	13					0	0	0	0
SLC41A2	84102	broad.mit.edu	37	12	105238389	105238389	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:105238389T>A	uc001tla.2	-	9	1564	c.1397A>T	c.(1396-1398)AAT>ATT	p.N466I		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	solute carrier family 41, member 2	466	Extracellular.					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			ovary(1)|skin(1)	2						AGCAGACTTATTATTTACTCC	0.254		NA											4	58					0	0	0	0
PLBD2	196463	broad.mit.edu	37	12	113810606	113810606	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:113810606G>C	uc001tve.2	+	3	572	c.537G>C	c.(535-537)TGG>TGC	p.W179C	PLBD2_uc001tvf.2_Missense_Mutation_p.W179C	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2 isoform 1	179					lipid catabolic process	lysosomal lumen	hydrolase activity				0						CACCTTACTGGCACCAGGTGA	0.587		NA											36	29					0	0	0	0
UBC	7316	broad.mit.edu	37	12	125397972	125397972	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:125397972G>A	uc001ugs.3	-	2	794	c.346C>T	c.(346-348)CAG>TAG	p.Q116*	UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Nonsense_Mutation_p.Q116*|UBC_uc001ugt.2_Nonsense_Mutation_p.Q116*|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_5'UTR	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	116	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AACCTCTGCTGGTCAGGAGGA	0.547		NA											41	129					0	0	0	0
KIAA0831	22863	broad.mit.edu	37	14	55878478	55878478	+	Silent	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:55878478C>A	uc001xbx.1	-	1	99	c.63G>T	c.(61-63)CCG>CCT	p.P21P	FBXO34_uc001xbv.2_Intron	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	21					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						CCCGGGCGAGCGGCCGGGGCC	0.701		NA											7	8					8.13e-05	9.13e-05	1	0
ADCK1	57143	broad.mit.edu	37	14	78325478	78325478	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:78325478C>A	uc001xui.2	+	4	378	c.279C>A	c.(277-279)TTC>TTA	p.F93L	ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Intron|ADCK1_uc001xuk.1_5'UTR	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	100						extracellular region	ATP binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GGGGCACCTTCATCAAGGTGG	0.622		NA											51	48					9.52e-25	1.2e-24	1	0
EML5	161436	broad.mit.edu	37	14	89082514	89082514	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:89082514C>T	uc001xxg.2	-	43	6055	c.5869G>A	c.(5869-5871)GTT>ATT	p.V1957I	EML5_uc001xxf.2_Missense_Mutation_p.V744I|EML5_uc001xxd.2_Missense_Mutation_p.V122I|EML5_uc001xxe.2_Missense_Mutation_p.V306I	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like	1949	WD 29.					cytoplasm|microtubule				ovary(3)	3						GCACTAACAACATGTCGATCA	0.418		NA											53	81					0	0	0	0
MOAP1	64112	broad.mit.edu	37	14	93649974	93649974	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:93649974C>A	uc001ybj.2	-	3	984	c.614G>T	c.(613-615)CGA>CTA	p.R205L	C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	205	RASSF1-binding.			KRRR->AAAA: Loss of RASSF1-binding; interacts with BAX in the absence of RASSF1.	activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			skin(2)|ovary(1)	3		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ctctagcaatcgccttctctt	0		NA											25	72					3.67e-16	4.5e-16	1	0
CYP46A1	10858	broad.mit.edu	37	14	100182184	100182184	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr14:100182184G>A	uc001ygo.2	+	8	731	c.731G>A	c.(730-732)CGG>CAG	p.R244Q	CYP46A1_uc001ygp.2_Missense_Mutation_p.R91Q	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	244					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CGGGAGGTCCGGGAGAGCATT	0.632		NA											26	38					0	0	0	0
HERC2	8924	broad.mit.edu	37	15	28413737	28413737	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:28413737C>G	uc001zbj.2	-	67	10336	c.10230_splice	c.e67-1	p.R3410_splice		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AACAGCATCTCTGTCAGGACA	0.647		NA											12	14					0	0	0	0
TRPM1	4308	broad.mit.edu	37	15	31354781	31354781	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:31354781C>G	uc001zfm.2	-	8	1151	c.1023_splice	c.e8+1	p.L341_splice	TRPM1_uc010azy.2_Splice_Site_p.L248_splice|TRPM1_uc001zfl.2_Splice_Site	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,						cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AAGACACTTACGAGTTCTTTC	0.348		NA											4	94					0	0	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500015	48500015	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:48500015T>C	uc001zwn.3	+	2	315	c.99T>C	c.(97-99)AGT>AGC	p.S33S	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Silent_p.S33S|SLC12A1_uc010uex.1_Silent_p.S33S	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	33	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATGAGAGCAGTGCAGCTGCAG	0.428		NA											17	22					0	0	0	0
DMXL2	23312	broad.mit.edu	37	15	51809332	51809333	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:51809332_51809333GC>AT	uc002abf.2	-	14	2693_2694	c.2468_2469GC>AT	c.(2467-2469)AGC>AAT	p.S823N	DMXL2_uc010ufy.1_Missense_Mutation_p.S823N|DMXL2_uc010bfa.2_Missense_Mutation_p.S823N	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	823						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TAGACTGTTGGCTCACAATATT	0.337		NA											6	136					0	0	0	0
UNC13C	440279	broad.mit.edu	37	15	54305278	54305278	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:54305278A>T	uc002ack.2	+	1	178	c.178A>T	c.(178-180)AAA>TAA	p.K60*		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	60					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTACACTTTTAAAAGCACTGT	0.418		NA											37	51					0	0	0	0
RFX7	64864	broad.mit.edu	37	15	56386608	56386608	+	Silent	SNP	A	A	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:56386608A>C	uc010bfn.2	-	9	3318	c.3318T>G	c.(3316-3318)TCT>TCG	p.S1106S	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Silent_p.S920S	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	1009					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						GAGACTGATAAGACTGTCCAG	0.448		NA											35	88					0	0	0	0
LARP6	55323	broad.mit.edu	37	15	71125421	71125421	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr15:71125421G>T	uc002ass.2	-	3	517	c.446C>A	c.(445-447)GCA>GAA	p.A149E		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	149	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0						CAAAGCATGTGCTGTGGTTCT	0.483		NA											36	65					2.76e-19	3.44e-19	1	0
SCNN1B	6338	broad.mit.edu	37	16	23382771	23382771	+	Silent	SNP	C	C	T	rs148438164	byFrequency	TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:23382771C>T	uc002dln.2	+	6	1208	c.1032C>T	c.(1030-1032)ATC>ATT	p.I344I		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	344	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGACGTCCATCGGGGTACTCG	0.642		NA											9	23					0	0	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24990293	24990293	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:24990293T>C	uc002dnb.2	-	2	180	c.87A>G	c.(85-87)CTA>CTG	p.L29L	ARHGAP17_uc002dnc.2_Silent_p.L29L|ARHGAP17_uc010vcf.1_Intron|ARHGAP17_uc002dng.1_Silent_p.L29L	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	29	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		TTACCTGTAATAGATCTTCAC	0.303		NA											12	19					0	0	0	0
ZNF629	23361	broad.mit.edu	37	16	30793689	30793689	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:30793689G>A	uc002dzs.1	-	3	2168	c.1960C>T	c.(1960-1962)CGG>TGG	p.R654W		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			AGCAGCCCCCGCCTCTGGCTG	0.657		NA											3	7					0	0	0	0
PLLP	51090	broad.mit.edu	37	16	57290897	57290897	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:57290897G>A	uc002elg.1	-	4	605	c.477C>T	c.(475-477)TTC>TTT	p.F159F		NM_015993	NP_057077	Q9Y342	PLLP_HUMAN	plasmolipin	159	Helical; (Potential).|MARVEL.					integral to membrane	ion channel activity				0						GGTAGCTGAAGAAGGCACTCA	0.582		NA											36	32					0	0	0	0
DOK4	55715	broad.mit.edu	37	16	57509863	57509863	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:57509863G>A	uc010cdb.2	-	2	371	c.73C>T	c.(73-75)CGG>TGG	p.R25W	DOK4_uc002elu.1_Missense_Mutation_p.R25W|DOK4_uc002elv.3_Missense_Mutation_p.R25W	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN	docking protein 4	25	PH.						insulin receptor binding			skin(1)	1						CAGCACCTCCGGTAGATCTGT	0.667		NA											10	10					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:7578403C>G	uc002gim.2	-	5	721	c.527G>C	c.(526-528)TGC>TCC	p.C176S	TP53_uc002gig.1_Missense_Mutation_p.C176S|TP53_uc002gih.2_Missense_Mutation_p.C176S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44S|TP53_uc010cng.1_Missense_Mutation_p.C44S|TP53_uc002gii.1_Missense_Mutation_p.C44S|TP53_uc010cnh.1_Missense_Mutation_p.C176S|TP53_uc010cni.1_Missense_Mutation_p.C176S|TP53_uc002gij.2_Missense_Mutation_p.C176S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83S|TP53_uc002gio.2_Missense_Mutation_p.C44S|TP53_uc010vug.1_Missense_Mutation_p.C137S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	176	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (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.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(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)		ATGGTGGGGGCAGCGCCTCAC	0.652		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)			26	8					0	0	0	0
PFAS	5198	broad.mit.edu	37	17	8172074	8172074	+	Silent	SNP	C	C	T	rs150119860		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:8172074C>T	uc002gkr.2	+	27	3747	c.3606C>T	c.(3604-3606)TAC>TAT	p.Y1202Y	PFAS_uc010vuv.1_Silent_p.Y778Y|PFAS_uc002gks.2_Silent_p.Y281Y	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1202	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGGGCGCTACGAGTCTCGCT	0.701		NA											38	5					0	0	0	0
ERBB2	2064	broad.mit.edu	37	17	37871770	37871770	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:37871770C>T	uc002hso.2	+	11	1532	c.1294C>T	c.(1294-1296)CGG>TGG	p.R432W	ERBB2_uc002hsm.2_Missense_Mutation_p.R402W|ERBB2_uc010cwa.2_Missense_Mutation_p.R417W|ERBB2_uc002hsp.2_Missense_Mutation_p.R235W|ERBB2_uc010cwb.2_Missense_Mutation_p.R432W|ERBB2_uc010wek.1_Missense_Mutation_p.R156W|ERBB2_uc002hsl.2_Missense_Mutation_p.R402W	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	432	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GCAAGTAATCCGGGGACGAAT	0.572		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			8	846					0	0	0	0
KRT33A	3883	broad.mit.edu	37	17	39504890	39504890	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:39504890A>G	uc002hwk.1	-	3	470	c.433T>C	c.(433-435)TAT>CAT	p.Y145H		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	145	Rod.|Coil 1B.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)				TCGGTCTCATATCTGTGATCA	0.572		NA											158	42					0	0	0	0
EME1	146956	broad.mit.edu	37	17	48453432	48453432	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:48453432T>G	uc002iqs.1	+	3	854	c.781T>G	c.(781-783)TTA>GTA	p.L261V	MRPL27_uc002iqq.2_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.1_Missense_Mutation_p.L261V	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	essential meiotic endonuclease 1 homolog 1	261					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding				0	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGCAGTGCTCTTACAGATGGA	0.567		NA						Direct_reversal_of_damage|Homologous_recombination					5	73					0	0	0	0
SPAG9	9043	broad.mit.edu	37	17	49074037	49074037	+	Silent	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:49074037G>T	uc002itc.2	-	16	2066	c.1857C>A	c.(1855-1857)GCC>GCA	p.A619A	SPAG9_uc002itb.2_Silent_p.A605A|SPAG9_uc002itd.2_Silent_p.A609A|SPAG9_uc002itf.2_Silent_p.A440A|SPAG9_uc002ita.2_Silent_p.A462A|SPAG9_uc002ite.2_Silent_p.A449A	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	619					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCTGCGTGAGGCTAAACTAG	0.408		NA											18	29					4.63e-17	5.71e-17	1	0
STXBP4	252983	broad.mit.edu	37	17	53111543	53111543	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:53111543G>A	uc002iuf.1	+	10	985	c.778G>A	c.(778-780)GCC>ACC	p.A260T	STXBP4_uc010dcc.1_Missense_Mutation_p.A185T|STXBP4_uc010dcd.1_Missense_Mutation_p.A260T	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	260						cytoplasm	calcium ion binding			ovary(1)	1						TGTCCAGGTTGCCAGAAACTT	0.338		NA											38	52					0	0	0	0
BCAS3	54828	broad.mit.edu	37	17	58967054	58967054	+	Splice_Site	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:58967054A>G	uc002iyv.3	+	10	771	c.662_splice	c.e10-2	p.S221_splice	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Splice_Site_p.S221_splice|BCAS3_uc002iyw.3_Splice_Site_p.S217_splice|BCAS3_uc002iyx.1_Splice_Site_p.G36_splice|BCAS3_uc002iyy.3_Splice_Site	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1							nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GAAATTTTTCAGGCTGCTATC	0.398		NA											3	118					0	0	0	0
BIRC5	332	broad.mit.edu	37	17	76212844	76212844	+	Silent	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:76212844A>G	uc002jvg.2	+	3	442	c.321A>G	c.(319-321)GAA>GAG	p.E107E	BIRC5_uc002jve.1_Intron|BIRC5_uc002jvd.1_Silent_p.E130E|BIRC5_uc010dhk.1_RNA|BIRC5_uc010dhl.1_Silent_p.E155E|BIRC5_uc002jvf.2_Silent_p.E130E|BIRC5_uc002jvh.2_Intron|BIRC5_uc002jvi.2_RNA|EPR1_uc002jvj.1_RNA	NM_001168	NP_001159	O15392	BIRC5_HUMAN	baculoviral IAP repeat-containing protein 5	107					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			TGGACAGAGAAAGAGCCAAGA	0.403		NA											30	53					0	0	0	0
RNMT	8731	broad.mit.edu	37	18	13737130	13737130	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr18:13737130T>A	uc002ksk.1	+	4	742	c.675T>A	c.(673-675)TGT>TGA	p.C225*	RNMT_uc002ksl.1_Nonsense_Mutation_p.C225*|RNMT_uc002ksm.1_Nonsense_Mutation_p.C225*|RNMT_uc010dlk.2_Nonsense_Mutation_p.C225*|RNMT_uc010xae.1_RNA	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	225					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0						AGCTAGTTTGTACTGGTAAGA	0.343		NA											17	15					0	0	0	0
PARD6G	84552	broad.mit.edu	37	18	77917976	77917976	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr18:77917976G>A	uc002lny.2	-	3	975	c.809C>T	c.(808-810)TCG>TTG	p.S270L	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	270					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GGTGCCGTCCGAGGGCGGTCC	0.701		NA											5	5					0	0	0	0
CACNA1A	773	broad.mit.edu	37	19	13411468	13411468	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:13411468G>A	uc010dze.2	-	18	2414	c.2178C>T	c.(2176-2178)GAC>GAT	p.D726D	CACNA1A_uc010dzc.2_Silent_p.D251D|CACNA1A_uc002mwy.3_Silent_p.D725D|CACNA1A_uc010xne.1_Silent_p.D254D	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	726	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCTCTTGCTCGTCCTAAAAGG	0.493		NA											5	65					0	0	0	0
FAM125A	93343	broad.mit.edu	37	19	17535470	17535470	+	Missense_Mutation	SNP	C	C	T	rs143800574		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:17535470C>T	uc002ngo.1	+	8	776	c.743C>T	c.(742-744)GCG>GTG	p.A248V	FAM125A_uc002ngp.1_Missense_Mutation_p.A156V|FAM125A_uc002ngq.1_Missense_Mutation_p.A144V	NM_138401	NP_612410	Q96EY5	F125A_HUMAN	family with sequence similarity 125, member A	248	UMA.|Interaction with TSG101, VPS37B and VPS28.				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding				0						AAGTCTCTGGCGGACATTGAG	0.662		NA											7	0					0	0	0	0
ZNF536	9745	broad.mit.edu	37	19	30936464	30936464	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:30936464C>T	uc002nsu.1	+	2	2133	c.1995C>T	c.(1993-1995)CAC>CAT	p.H665H	ZNF536_uc010edd.1_Silent_p.H665H	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					ATGGGCTGCACGTGGGCCTGG	0.692		NA											10	46					0	0	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833300	34833300	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:34833300C>T	uc002nvd.3	+	10	3320	c.2461C>T	c.(2461-2463)CGT>TGT	p.R821C		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	821										ovary(1)	1	Esophageal squamous(110;0.162)					CTGGCCCAACCGTGACCAAAG	0.522		NA											62	84					0	0	0	0
FAM187B	148109	broad.mit.edu	37	19	35719283	35719283	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:35719283G>T	uc002nyk.1	-	1	346	c.301C>A	c.(301-303)CGC>AGC	p.R101S		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	101	Extracellular (Potential).					integral to membrane				ovary(2)	2						ACCACTTGGCGGCCATTCTTG	0.512		NA											43	64					3.55e-26	4.51e-26	1	0
ZNF382	84911	broad.mit.edu	37	19	37118397	37118397	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:37118397C>G	uc002oek.2	+	5	1711	c.1598C>G	c.(1597-1599)TCA>TGA	p.S533*	ZNF382_uc010efa.2_Nonsense_Mutation_p.S484*|ZNF382_uc010efb.2_Nonsense_Mutation_p.S532*|ZNF382_uc002oel.2_Nonsense_Mutation_p.S532*	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	533	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).|C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTTGTAAGTCAAACCTCATT	0.383		NA											16	26					0	0	0	0
ZNF229	7772	broad.mit.edu	37	19	44933285	44933285	+	Silent	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:44933285G>T	uc002oze.1	-	6	2105	c.1671C>A	c.(1669-1671)TCC>TCA	p.S557S	ZNF229_uc010ejk.1_Silent_p.S211S|ZNF229_uc010ejl.1_Silent_p.S551S	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	557	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				TGTGGAGGTCGGAGCTCCGGC	0.542		NA											45	28					2.13e-23	2.69e-23	1	0
POLD1	5424	broad.mit.edu	37	19	50906794	50906794	+	Silent	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:50906794C>G	uc002psb.3	+	10	1238	c.1182C>G	c.(1180-1182)ACC>ACG	p.T394T	POLD1_uc002psc.3_Silent_p.T394T|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Silent_p.T394T	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	394					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACGTGATCACCGGTTACAACA	0.617		NA						DNA_polymerases_(catalytic_subunits)					55	82					0	0	0	0
ZNF845	91664	broad.mit.edu	37	19	53854072	53854072	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:53854072T>A	uc010ydv.1	+	4	261	c.144T>A	c.(142-144)GAT>GAA	p.D48E	ZNF845_uc010ydw.1_Missense_Mutation_p.D48E	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATTTTCTAGATATCTCTTCCA	0.338		NA											12	92					0	0	0	0
CNOT3	4849	broad.mit.edu	37	19	54656721	54656721	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:54656721C>G	uc002qdj.1	+	16	2333	c.2022C>G	c.(2020-2022)ATC>ATG	p.I674M	CNOT3_uc010yel.1_Missense_Mutation_p.I674M|CNOT3_uc002qdi.2_Missense_Mutation_p.S586C|CNOT3_uc002qdk.1_Missense_Mutation_p.I674M|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Missense_Mutation_p.I129M	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	674					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTTCTTCATCTTCTACTATC	0.682		NA											42	129					0	0	0	0
CRIM1	51232	broad.mit.edu	37	2	36691694	36691694	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:36691694G>C	uc002rpd.2	+	5	926	c.887G>C	c.(886-888)GGC>GCC	p.G296A		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	296	Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGTCTCTCTGGCTTATGTGGT	0.493		NA											67	106					0	0	0	0
PRKD3	23683	broad.mit.edu	37	2	37520323	37520323	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:37520323G>A	uc002rqd.2	-	2	935	c.380C>T	c.(379-381)TCA>TTA	p.S127L	PRKD3_uc002rqf.1_Missense_Mutation_p.S127L	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	127					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				TTCATCTGCTGAGGTAATCAG	0.408		NA											23	60					0	0	0	0
NRXN1	9378	broad.mit.edu	37	2	50149151	50149151	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:50149151C>A	uc010fbp.2	-	6	2067	c.1260G>T	c.(1258-1260)GAG>GAT	p.E420D	NRXN1_uc002rxb.3_Missense_Mutation_p.E1154D|NRXN1_uc010fbq.2_Missense_Mutation_p.E1525D|NRXN1_uc002rxe.3_Missense_Mutation_p.E1455D|NRXN1_uc010yon.1_Missense_Mutation_p.E120D|NRXN1_uc002rxa.3_Missense_Mutation_p.E117D	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	420	Cytoplasmic (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGGTTGTTTCTCCTTTACAA	0.413		NA											33	47					8.17e-17	1e-16	1	0
SPTBN1	6711	broad.mit.edu	37	2	54891603	54891603	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:54891603T>G	uc002rxu.2	+	33	6683	c.6434T>G	c.(6433-6435)GTG>GGG	p.V2145G	SPTBN1_uc010you.1_Missense_Mutation_p.V135G	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	2145					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GCAGAAACGGTGGACACAAGC	0.562		NA											42	219					0	0	0	0
DYSF	8291	broad.mit.edu	37	2	71780158	71780158	+	Silent	SNP	C	C	G	rs34644852		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:71780158C>G	uc002sie.2	+	20	2146	c.1770C>G	c.(1768-1770)CGC>CGG	p.R590R	DYSF_uc010feg.2_Silent_p.R621R|DYSF_uc010feh.2_Silent_p.R576R|DYSF_uc002sig.3_Silent_p.R576R|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.R590R|DYSF_uc010fef.2_Silent_p.R607R|DYSF_uc010fei.2_Silent_p.R607R|DYSF_uc010fek.2_Silent_p.R608R|DYSF_uc010fej.2_Silent_p.R577R|DYSF_uc010fel.2_Silent_p.R577R|DYSF_uc010feo.2_Silent_p.R622R|DYSF_uc010fem.2_Silent_p.R591R|DYSF_uc010fen.2_Silent_p.R608R|DYSF_uc002sif.2_Silent_p.R591R	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	590	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						TTAGGAGGCGCAAGTACTCCC	0.567		NA											3	55					0	0	0	0
C1QL2	165257	broad.mit.edu	37	2	119915824	119915824	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:119915824C>T	uc002tlo.2	-	1	648	c.22G>A	c.(22-24)GCC>ACC	p.A8T		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	8						collagen				pancreas(1)	1						AGCGGCACGGCGATGAGCAGC	0.741		NA								HNSCC(49;0.14)			3	10					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141359174	141359174	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:141359174T>A	uc002tvj.1	-	42	7806	c.6834A>T	c.(6832-6834)AGA>AGT	p.R2278S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2278	Extracellular (Potential).|LDL-receptor class B 23.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATCCCAGGCTCTGTGATAGG	0.448		NA								TSP Lung(27;0.18)			6	47					0	0	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152226607	152226607	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:152226607A>T	uc002txk.2	+	4	544	c.468A>T	c.(466-468)GAA>GAT	p.E156D		NM_007115	NP_009046	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	156	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		ATGAGTACGAAGATAACCAAA	0.398		NA											64	69					0	0	0	0
GALNT5	11227	broad.mit.edu	37	2	158162305	158162305	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:158162305T>C	uc002tzg.2	+	8	2739	c.2484T>C	c.(2482-2484)ACT>ACC	p.T828T	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	828	Lumenal (Potential).|Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						TTGAAAACACTACAGTCATTC	0.358		NA											6	46					0	0	0	0
MARCH7	64844	broad.mit.edu	37	2	160619499	160619499	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:160619499G>A	uc002uax.2	+	8	2124	c.2002G>A	c.(2002-2004)GTC>ATC	p.V668I	MARCH7_uc010foq.2_Missense_Mutation_p.V668I|MARCH7_uc010zcn.1_Missense_Mutation_p.V612I|MARCH7_uc010for.2_Missense_Mutation_p.V630I|MARCH7_uc002uay.2_RNA	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	axotrophin	668							ligase activity|zinc ion binding				0						AAGCACACGTGTCCGAGTAAG	0.413		NA											5	41					0	0	0	0
SLC4A10	57282	broad.mit.edu	37	2	162661031	162661031	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:162661031G>A	uc002ubx.3	+	3	387	c.203G>A	c.(202-204)CGT>CAT	p.R68H	SLC4A10_uc010fpa.1_Missense_Mutation_p.R80H|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R68H|SLC4A10_uc010zcs.1_Missense_Mutation_p.R79H	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	68	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						CACAGGCATCGTGGTCATAAA	0.418		NA											22	21					0	0	0	0
KCNH7	90134	broad.mit.edu	37	2	163280005	163280005	+	Silent	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:163280005A>T	uc002uch.1	-	9	2207	c.1995T>A	c.(1993-1995)ATT>ATA	p.I665I	KCNH7_uc002uci.2_Silent_p.I658I	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	665	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	GTCTTTGGATAATTGCAGATA	0.418		NA											51	57					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179587427	179587427	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:179587427C>G	uc010zfg.1	-	73	18691	c.18467G>C	c.(18466-18468)AGT>ACT	p.S6156T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2817T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7083							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)			AGTTCCTATACTATTTTCTGC	0.328		NA											14	14					0	0	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800683	185800683	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:185800683C>A	uc002uph.2	+	4	1154	c.560C>A	c.(559-561)CCA>CAA	p.P187Q		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	187						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						GCTGAAGATCCAGAAAGTGCA	0.368		NA											20	28					1.16e-05	1.34e-05	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803540	185803540	+	Silent	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:185803540C>G	uc002uph.2	+	4	4011	c.3417C>G	c.(3415-3417)ACC>ACG	p.T1139T		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1139						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						CAGCTCTCACCAGAACCTCAT	0.393		NA											43	66					0	0	0	0
PTH2R	5746	broad.mit.edu	37	2	209308082	209308082	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:209308082T>C	uc002vdb.2	+	6	732	c.519T>C	c.(517-519)CAT>CAC	p.H173H	PTH2R_uc010zjb.1_Silent_p.H184H	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	173	Cytoplasmic (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GACGATTGCATTGCACTAGGA	0.423		NA											19	6					0	0	0	0
RBCK1	10616	broad.mit.edu	37	20	408138	408138	+	Splice_Site	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:408138T>C	uc002wdp.3	+	9	1902	c.1209_splice	c.e9+2	p.K403_splice	RBCK1_uc010zpm.1_Splice_Site|RBCK1_uc002wdq.3_Splice_Site_p.K361_splice|RBCK1_uc010fzy.2_Splice_Site|RBCK1_uc002wdr.3_Splice_Site_p.K233_splice	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing						interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CTCTGCAAGGTGGGGCCTGCA	0.572		NA											4	74					0	0	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559072	1559072	+	Silent	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:1559072G>C	uc010gai.2	-	2	444	c.345C>G	c.(343-345)GCC>GCG	p.A115A	SIRPB1_uc002wfk.3_Silent_p.A115A	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	115	Extracellular (Potential).|Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						AGTAGGTGCCGGCGTCTGCTG	0.532		NA											42	196					0	0	0	0
DEFB123	245936	broad.mit.edu	37	20	30028525	30028525	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:30028525G>C	uc002wvy.2	+	1	115	c.24G>C	c.(22-24)TTG>TTC	p.L8F		NM_153324	NP_697019	Q8N688	DB123_HUMAN	defensin, beta 123 precursor	8					defense response to bacterium	extracellular region					0	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCTGACTTTGACTGTGCTGC	0.542		NA											147	232					0	0	0	0
XKR7	343702	broad.mit.edu	37	20	30584797	30584797	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:30584797C>T	uc002wxe.2	+	3	1451	c.1277C>T	c.(1276-1278)GCG>GTG	p.A426V		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	426	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCCAGCTTTGCGCTGGGCATA	0.582		NA											39	40					0	0	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31980046	31980046	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:31980046T>C	uc010gek.2	-	5	570	c.446A>G	c.(445-447)GAG>GGG	p.E149G	CDK5RAP1_uc002wyy.2_Missense_Mutation_p.E59G|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.E149G|CDK5RAP1_uc002wza.2_Missense_Mutation_p.E149G|CDK5RAP1_uc010gel.2_Missense_Mutation_p.E58G|CDK5RAP1_uc010gem.2_Missense_Mutation_p.E149G|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.E149G|CDK5RAP1_uc010gen.2_Missense_Mutation_p.E149G	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	149	MTTase N-terminal.|CDK5 activation inhibition.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			ovary(2)|skin(2)|lung(1)	5						CTCAGCCTTCTCCCTAGAGAG	0.478		NA											4	86					0	0	0	0
RPN2	6185	broad.mit.edu	37	20	35852325	35852326	+	Missense_Mutation	DNP	TC	TC	GT			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:35852325_35852326TC>GT	uc002xgp.2	+	10	1441_1442	c.1137_1138TC>GT	c.(1135-1140)GATCTT>GAGTTT	p.379_380DL>EF	RPN2_uc002xgo.3_Missense_Mutation_p.379_380DL>EF|RPN2_uc010gfw.2_Missense_Mutation_p.222_223DL>EF|RPN2_uc002xgq.2_Missense_Mutation_p.347_348DL>EF	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	379_380	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				CAAATGTTGATCTTTCCACCGT	0.49		NA											3	66					0	0	0	0
SRC	6714	broad.mit.edu	37	20	36012655	36012655	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:36012655C>T	uc002xgx.2	+	4	548	c.99C>T	c.(97-99)CCC>CCT	p.P33P	SRC_uc002xgy.2_Silent_p.P33P	NM_005417	NP_005408	P12931	SRC_HUMAN	proto-oncogene tyrosine-protein kinase SRC	33					axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GCGCTTTCCCCGCCTCGCAGA	0.751		NA											11	6					0	0	0	0
ELMO2	63916	broad.mit.edu	37	20	45003021	45003021	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr20:45003021G>A	uc002xrt.1	-	15	1439	c.1229C>T	c.(1228-1230)GCC>GTC	p.A410V	ELMO2_uc010zxq.1_Missense_Mutation_p.A142V|ELMO2_uc002xrs.1_Missense_Mutation_p.A157V|ELMO2_uc002xru.1_Missense_Mutation_p.A410V|ELMO2_uc010zxr.1_Missense_Mutation_p.A422V|ELMO2_uc010zxs.1_Missense_Mutation_p.A227V|ELMO2_uc002xrv.1_Missense_Mutation_p.A129V|ELMO2_uc002xrw.2_Missense_Mutation_p.A227V	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	410	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GAGCTCAATGGCACTGCGGCC	0.512		NA											36	45					0	0	0	0
TOMM70A	9868	broad.mit.edu	37	3	100093900	100093900	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:100093900C>T	uc003dtw.2	-	7	1621	c.1189G>A	c.(1189-1191)GAT>AAT	p.D397N		NM_014820	NP_055635	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70	397	Cytoplasmic (Potential).|TPR 5.				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			ovary(1)	1						TTCTGAGGATCGATGTCAGCA	0.443		NA											47	84					0	0	0	0
LNP1	348801	broad.mit.edu	37	3	100170729	100170729	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:100170729T>C	uc003dtx.3	+	3	1603	c.323T>C	c.(322-324)ATT>ACT	p.I108T	LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	108											0						CATTCCAAAATTGAGAAATTT	0.428		NA											82	39					0	0	0	0
TMEM45A	55076	broad.mit.edu	37	3	100275788	100275788	+	Silent	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:100275788A>G	uc003dtz.1	+	3	688	c.375A>G	c.(373-375)TTA>TTG	p.L125L	TMEM45A_uc003dua.1_Silent_p.L141L	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	125						integral to membrane				skin(2)|ovary(1)	3						TAACCAAGTTAATGTTGTCAA	0.378		NA											12	240					0	0	0	0
SR140	23350	broad.mit.edu	37	3	142740399	142740399	+	Splice_Site	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:142740399T>C	uc003evh.1	+	10	951	c.852_splice	c.e10+2	p.Q284_splice	SR140_uc003evi.1_Splice_Site|SR140_uc011bnj.1_Splice_Site_p.Q284_splice|SR140_uc003evj.1_Splice_Site|SR140_uc003evk.1_Splice_Site_p.Q283_splice	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein						RNA processing	nucleus	nucleotide binding|RNA binding				0						AATCCACAGGTAATATTAAGT	0.343		NA											8	37					0	0	0	0
SUCNR1	56670	broad.mit.edu	37	3	151597696	151597696	+	Splice_Site	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:151597696G>A	uc003ezf.1	+	2	114	c.15_splice	c.e2+1	p.M5_splice		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	succinate receptor 1							integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGGGATCATGGTATGTTTAGA	0.224		NA											28	65					0	0	0	0
MFSD1	64747	broad.mit.edu	37	3	158539427	158539427	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:158539427C>A	uc003fcl.1	+	10	935	c.905C>A	c.(904-906)GCA>GAA	p.A302E	MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.A205E|MFSD1_uc011bow.1_Missense_Mutation_p.A263E|MFSD1_uc011box.1_Missense_Mutation_p.A229E	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing	302					transmembrane transport	integral to membrane					0			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCCCAGGCAGCAAGTGCAATT	0.294		NA											12	129					1.57e-10	1.91e-10	1	0
NLGN1	22871	broad.mit.edu	37	3	173322668	173322668	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:173322668C>G	uc003fio.1	+	3	703	c.280C>G	c.(280-282)CGT>GGT	p.R94G	NLGN1_uc010hww.1_Missense_Mutation_p.R94G|NLGN1_uc003fip.1_Missense_Mutation_p.R94G	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	94	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGGGGAACGTCGTTTTCAGCC	0.453		NA											5	251					0	0	0	0
KCNMB2	10242	broad.mit.edu	37	3	178546115	178546115	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:178546115A>G	uc003fjd.2	+	4	720	c.377A>G	c.(376-378)AAG>AGG	p.K126R	uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.K126R|KCNMB2_uc003fjf.2_Missense_Mutation_p.K126R|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	126	Extracellular (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(1)	1	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TCCGGGGAAAAGCTCCTCCTC	0.478		NA											22	41					0	0	0	0
PEX5L	51555	broad.mit.edu	37	3	179615940	179615940	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:179615940A>C	uc003fki.1	-	3	318	c.188T>G	c.(187-189)ATG>AGG	p.M63R	PEX5L_uc011bqd.1_Missense_Mutation_p.M20R|PEX5L_uc011bqe.1_Intron|PEX5L_uc011bqf.1_Missense_Mutation_p.M20R|PEX5L_uc003fkj.1_Intron|PEX5L_uc010hxd.1_Missense_Mutation_p.M61R|PEX5L_uc011bqg.1_Missense_Mutation_p.M39R|PEX5L_uc011bqh.1_Intron	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	63					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTGTGATGTCATAGTAAGGAG	0.428		NA											9	123					0	0	0	0
HTR3D	200909	broad.mit.edu	37	3	183756634	183756634	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:183756634G>C	uc011bqv.1	+	8	1236	c.1236G>C	c.(1234-1236)GAG>GAC	p.E412D	HTR3D_uc003fmj.2_Missense_Mutation_p.E237D|HTR3D_uc011bqu.1_Missense_Mutation_p.E362D|HTR3D_uc010hxp.2_Missense_Mutation_p.E191D	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine receptor 3 subunit D isoform	412	Cytoplasmic (Potential).					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity				0	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGGAACACGAGGCCCAGAAGC	0.637		NA											42	115					0	0	0	0
HRG	3273	broad.mit.edu	37	3	186386805	186386805	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr3:186386805T>C	uc003fqq.2	+	2	288	c.265T>C	c.(265-267)TGT>CGT	p.C89R		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	89	Cystatin 1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTGGAATGACTGTGAGCCACC	0.413		NA											4	137					0	0	0	0
RFC1	5981	broad.mit.edu	37	4	39290414	39290414	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:39290414G>A	uc003gty.1	-	25	3548	c.3414C>T	c.(3412-3414)CCC>CCT	p.P1138P	RFC1_uc003gtx.1_Silent_p.P1137P	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	1138					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						TTCCTTTTCTGGGCTCCTTAT	0.378		NA											26	12					0	0	0	0
ATP8A1	10396	broad.mit.edu	37	4	42524198	42524198	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:42524198C>G	uc003gwr.2	-	22	2158	c.1926G>C	c.(1924-1926)GAG>GAC	p.E642D	ATP8A1_uc003gws.2_Missense_Mutation_p.E627D	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	642	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	ACTCATAACTCTCTTCGAGTT	0.433		NA											87	13					0	0	0	0
NFXL1	152518	broad.mit.edu	37	4	47853112	47853112	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:47853112C>A	uc010igh.2	-	22	2739	c.2562G>T	c.(2560-2562)CAG>CAT	p.Q854H	NFXL1_uc003gxo.2_Missense_Mutation_p.Q179H|NFXL1_uc003gxp.2_Missense_Mutation_p.Q854H|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.Q854H	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	854	Potential.					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						GTTTGGTTACCTGTTGTCTTC	0.353		NA											8	21					0.000978159	0.00108398	1	0
POLR2B	5431	broad.mit.edu	37	4	57852522	57852522	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:57852522A>G	uc003hcl.1	+	2	65	c.22A>G	c.(22-24)ATG>GTG	p.M8V	POLR2B_uc011cae.1_Missense_Mutation_p.M1V|POLR2B_uc011caf.1_Translation_Start_Site	NM_000938	NP_000929	P30876	RPB2_HUMAN	DNA directed RNA polymerase II polypeptide B	8					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)					TTTTACAGATATGCAATATGA	0.358		NA											38	23					0	0	0	0
TECRL	253017	broad.mit.edu	37	4	65175550	65175550	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr4:65175550C>T	uc003hcv.2	-	6	760	c.651G>A	c.(649-651)TTG>TTA	p.L217L	TECRL_uc003hcw.2_Silent_p.L217L	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	217	Helical; (Potential).				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						TCACCATTATCAAATTTTTCA	0.338		NA											18	56					0	0	0	0
C5orf38	153571	broad.mit.edu	37	5	2752514	2752514	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:2752514C>T	uc003jdc.2	+	1	253	c.136C>T	c.(136-138)CAC>TAC	p.H46Y	C5orf38_uc011cmg.1_Missense_Mutation_p.H46Y|C5orf38_uc011cmh.1_RNA|C5orf38_uc011cmi.1_RNA|C5orf38_uc011cmj.1_RNA	NM_178569	NP_848664	Q86SI9	CEI_HUMAN	hypothetical protein LOC153571 precursor	46						extracellular region					0				GBM - Glioblastoma multiforme(108;0.205)		CCTCGCGGTCCACTCCGCCCA	0.701		NA											9	4					0	0	0	0
PRDM9	56979	broad.mit.edu	37	5	23526667	23526667	+	Silent	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:23526667A>T	uc003jgo.2	+	11	1652	c.1470A>T	c.(1468-1470)GGA>GGT	p.G490G		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	490					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						GTAGAGTGGGAAAAAGAATAA	0.443		NA								HNSCC(3;0.000094)			12	11					0	0	0	0
CDH10	1008	broad.mit.edu	37	5	24488021	24488021	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:24488021A>T	uc003jgr.1	-	12	2450	c.2118T>A	c.(2116-2118)GAT>GAA	p.D706E	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	706	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CGTCCGTGTTATCTGGAGCTG	0.488		NA								HNSCC(23;0.051)			49	46					0	0	0	0
FYB	2533	broad.mit.edu	37	5	39127888	39127888	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:39127888T>C	uc003jls.2	-	10	1929	c.1862A>G	c.(1861-1863)GAT>GGT	p.D621G	FYB_uc003jlt.2_Missense_Mutation_p.D621G|FYB_uc003jlu.2_Missense_Mutation_p.D621G|FYB_uc011cpl.1_Missense_Mutation_p.D631G	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	621					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			AATGTCATCATCTGGTGGTGG	0.323		NA											13	18					0	0	0	0
CHSY3	337876	broad.mit.edu	37	5	129520027	129520027	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:129520027A>G	uc003kvd.2	+	3	1192	c.1192A>G	c.(1192-1194)AGG>GGG	p.R398G		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	398	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TCCCAACAAAAGGCCTGCATA	0.448		NA											3	56					0	0	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215088	140215088	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:140215088G>A	uc003lhq.2	+	1	1120	c.1120G>A	c.(1120-1122)GTG>ATG	p.V374M	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_uc011dac.1_Missense_Mutation_p.V374M	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	374	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGATTAGCGTGTTTGACCG	0.493		NA											87	20					0	0	0	0
PCDHA13	56136	broad.mit.edu	37	5	140264051	140264051	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:140264051C>T	uc003lif.2	+	1	2198	c.2198C>T	c.(2197-2199)GCG>GTG	p.A733V	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_Missense_Mutation_p.A733V|PCDHA13_uc003lid.2_Missense_Mutation_p.A733V	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	733	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCGTGCGCGCCGGGCAAG	0.672		NA											57	9					0	0	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710805	140710805	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:140710805G>T	uc003lji.1	+	1	554	c.554G>T	c.(553-555)GGA>GTA	p.G185V	PCDHGA1_uc011dan.1_Missense_Mutation_p.G185V	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	185	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCAACAGGGAGCCGATGGG	0.527		NA											60	9					1.14e-29	1.45e-29	1	0
ABLIM3	22885	broad.mit.edu	37	5	148626086	148626086	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:148626086G>C	uc003lpy.2	+	17	1779	c.1528G>C	c.(1528-1530)GAT>CAT	p.D510H	ABLIM3_uc003lpz.1_Missense_Mutation_p.D510H|ABLIM3_uc003lqa.1_Missense_Mutation_p.D407H|ABLIM3_uc003lqb.2_Missense_Mutation_p.D399H|ABLIM3_uc003lqc.1_Missense_Mutation_p.D477H|ABLIM3_uc003lqd.1_Missense_Mutation_p.D415H|ABLIM3_uc003lqf.2_Missense_Mutation_p.D399H|ABLIM3_uc003lqe.1_Missense_Mutation_p.D399H	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	510					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGGATGATTTTGACCG	0.443		NA											20	3					0	0	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148712312	148712312	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:148712312G>T	uc003lqh.2	+	17	2161	c.2030G>T	c.(2029-2031)CGG>CTG	p.R677L	AFAP1L1_uc010jgy.2_Missense_Mutation_p.R677L|AFAP1L1_uc003lqi.1_Missense_Mutation_p.R292L	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	677	Potential.						protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGTGTCGGGCAAAGGAG	0.567		NA											3	53					0.00909568	0.00979535	1	0
RANBP17	64901	broad.mit.edu	37	5	170395247	170395247	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:170395247G>A	uc003mba.2	+	14	1592	c.1576G>A	c.(1576-1578)GTT>ATT	p.V526I	RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	526					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCATGAAGAGTTTTTCAGCT	0.289		NA	T	TRD@	ALL								24	9					0	0	0	0
STK10	6793	broad.mit.edu	37	5	171583735	171583735	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:171583735C>T	uc003mbo.1	-	2	514	c.214G>A	c.(214-216)GAG>AAG	p.E72K		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	72	Protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCTCCTCCTCACTCTTGGTT	0.547		NA											54	16					0	0	0	0
RMND5B	64777	broad.mit.edu	37	5	177574774	177574774	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:177574774C>T	uc003mim.2	+	10	1188	c.1008C>T	c.(1006-1008)TTC>TTT	p.F336F	RMND5B_uc003min.2_Silent_p.F336F|RMND5B_uc003mio.2_Silent_p.F323F|RMND5B_uc003mip.2_Silent_p.F336F|RMND5B_uc011dgf.1_Silent_p.F377F|RMND5B_uc003miq.2_Silent_p.F276F	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog	336										ovary(1)|skin(1)	2	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCCGTGTTCGCTTGCCCCA	0.542		NA											75	17					0	0	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552137	178552137	+	Missense_Mutation	SNP	C	C	T	rs140022033	byFrequency	TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr5:178552137C>T	uc003mjw.2	-	19	2795	c.2795G>A	c.(2794-2796)CGG>CAG	p.R932Q		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	932	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CATGCCTGTCCGCCCACAGGT	0.667		NA											25	54					0	0	0	0
RNF182	221687	broad.mit.edu	37	6	13977531	13977531	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:13977531G>T	uc003nbe.2	+	3	599	c.181G>T	c.(181-183)GTC>TTC	p.V61F	RNF182_uc003nbf.2_Missense_Mutation_p.V61F|RNF182_uc003nbg.2_Missense_Mutation_p.V61F	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	ring finger protein 182	61	RING-type.					cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			CCCACAAGGTGTCATTGTCTG	0.473		NA											8	116					0.00621372	0.00672619	1	0
HIST1H3C	8352	broad.mit.edu	37	6	26045748	26045748	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:26045748A>T	uc003nfv.2	+	1	110	c.110A>T	c.(109-111)AAG>ATG	p.K37M	HIST1H2BB_uc003nfu.2_5'Flank	NM_003531	NP_003522	P68431	H31_HUMAN	histone cluster 1, H3c	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						GGTGGCGTGAAGAAACCTCAT	0.632		NA											21	40					0	0	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26246938	26246938	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:26246938C>T	uc003nhf.2	-	1	268	c.268G>A	c.(268-270)GTG>ATG	p.V90M		NM_003547	NP_003538	Q99525	H4G_HUMAN	histone cluster 1, H4g	90					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGTTTGAGCACGTAGACCACG	0.572		NA											12	44					0	0	0	0
OR2B6	26212	broad.mit.edu	37	6	27925114	27925114	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:27925114G>C	uc011dkx.1	+	1	96	c.96G>C	c.(94-96)TTG>TTC	p.L32F		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TGGTCTTCTTGATTTCTTACA	0.418		NA											9	88					0	0	0	0
DNAH8	1769	broad.mit.edu	37	6	38899605	38899605	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:38899605G>A	uc003ooe.1	+	74	11242	c.10642G>A	c.(10642-10644)GAA>AAA	p.E3548K	DNAH8_uc003oog.1_5'UTR|uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CGGTGATAAGGAATGTGATAT	0.234		NA											37	107					0	0	0	0
TDRD6	221400	broad.mit.edu	37	6	46658979	46658979	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:46658979C>T	uc003oyj.2	+	1	3114	c.3114C>T	c.(3112-3114)ACC>ACT	p.T1038T	TDRD6_uc010jze.2_Silent_p.T1032T	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1038	Tudor 5.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			ACCCTGGAACCTTGTGCCTTG	0.348		NA											5	63					0	0	0	0
C6orf167	253714	broad.mit.edu	37	6	97676903	97676903	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:97676903C>G	uc003ppb.2	-	14	2172	c.1906G>C	c.(1906-1908)GAG>CAG	p.E636Q	C6orf167_uc011eaf.1_Missense_Mutation_p.E596Q	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	636					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		TAGCTGGTCTCAAACACTTCT	0.398		NA											34	36					0	0	0	0
C6orf167	253714	broad.mit.edu	37	6	97694537	97694537	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:97694537T>C	uc003ppb.2	-	11	1415	c.1149A>G	c.(1147-1149)GTA>GTG	p.V383V	C6orf167_uc011eaf.1_Silent_p.V383V|C6orf167_uc010kcn.1_Silent_p.V157V|C6orf167_uc010kco.1_Silent_p.V119V	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	383					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		GCAGTTCTTCTACAAAGTTCC	0.289		NA											18	15					0	0	0	0
GPR6	2830	broad.mit.edu	37	6	110301053	110301053	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:110301053G>A	uc011eaw.1	+	2	918	c.738G>A	c.(736-738)GTG>GTA	p.V246V	GPR6_uc011eav.1_Silent_p.V261V|GPR6_uc003ptu.2_Silent_p.V246V	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	246	Helical; Name=5; (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ACCTGTACGTGCGCATCTGCC	0.687		NA											17	12					0	0	0	0
COL10A1	1300	broad.mit.edu	37	6	116443007	116443007	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:116443007T>G	uc003pwm.2	-	3	368	c.272A>C	c.(271-273)CAA>CCA	p.Q91P	NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	type X collagen alpha 1 precursor	91	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)	1		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TGGCTCTCCTTGGAGTCCAGG	0.607		NA											8	66					0	0	0	0
FAM184A	79632	broad.mit.edu	37	6	119295637	119295637	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:119295637C>A	uc003pyj.2	-	14	3219	c.2871G>T	c.(2869-2871)AAG>AAT	p.K957N	FAM184A_uc003pyk.3_Intron|FAM184A_uc003pyl.3_Intron|FAM184A_uc003pyi.2_RNA	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	957										ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						GCTCGTTAGTCTTATTAAAAT	0.348		NA											47	132					1.07e-20	1.34e-20	1	0
GRM1	2911	broad.mit.edu	37	6	146755396	146755396	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:146755396C>T	uc010khw.1	+	9	3519	c.3049C>T	c.(3049-3051)CTC>TTC	p.L1017F	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1017	Gln/Pro-rich.|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCCCCCTCCTCTCCAGCAGCA	0.652		NA											36	64					0	0	0	0
PDE1C	5137	broad.mit.edu	37	7	31917639	31917639	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:31917639G>A	uc003tcm.1	-	5	905	c.436C>T	c.(436-438)CGG>TGG	p.R146W	PDE1C_uc003tcn.1_Missense_Mutation_p.R146W|PDE1C_uc003tco.1_Missense_Mutation_p.R206W|PDE1C_uc003tcr.2_Missense_Mutation_p.R146W|PDE1C_uc003tcs.2_Missense_Mutation_p.R146W	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	146					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			TTTGATGTCCGTCTATACATT	0.343		NA											8	35					0	0	0	0
AZGP1	563	broad.mit.edu	37	7	99565809	99565809	+	Silent	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:99565809C>A	uc003ush.2	-	3	626	c.582G>T	c.(580-582)CTG>CTT	p.L194L		NM_001185	NP_001176	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc	194					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGCTGTATTTCAGGTATTTCC	0.547		NA											37	44					1.84e-18	2.27e-18	1	0
RELN	5649	broad.mit.edu	37	7	103143679	103143680	+	Splice_Site	DNP	TA	TA	AT			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:103143679_103143680TA>AT	uc003vca.2	-	52	8435	c.8275_splice	c.e52-1	p.I2759_splice	RELN_uc010liz.2_Splice_Site_p.I2759_splice	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACTGAGATCTAATAAACAGAA	0.366		NA											13	38					0	0	0	0
ASB15	142685	broad.mit.edu	37	7	123267298	123267298	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:123267298C>A	uc003vku.1	+	9	1124	c.832C>A	c.(832-834)CTT>ATT	p.L278I	ASB15_uc003vkv.1_Missense_Mutation_p.L278I|ASB15_uc003vkw.1_Missense_Mutation_p.L278I	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	278					intracellular signal transduction					skin(2)|lung(1)	3						AGCAGGACATCTTCCTATACA	0.438		NA											18	23					1.34e-09	1.61e-09	1	0
ASB15	142685	broad.mit.edu	37	7	123269291	123269291	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:123269291G>C	uc003vku.1	+	10	1535	c.1243G>C	c.(1243-1245)GAC>CAC	p.D415H	ASB15_uc003vkw.1_Missense_Mutation_p.D415H	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	415					intracellular signal transduction					skin(2)|lung(1)	3						GCATGTGAATGACACTCGTTT	0.418		NA											25	83					0	0	0	0
HIPK2	28996	broad.mit.edu	37	7	139258060	139258060	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:139258060C>T	uc003vvf.3	-	15	3384	c.3210G>A	c.(3208-3210)CCG>CCA	p.P1070P	HIPK2_uc003vvd.3_Silent_p.P1043P	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	1070	Autoinhibitory domain (AID).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					GGAAGGAGTACGGAGCCTGGG	0.682		NA											47	77					0	0	0	0
MGAM	8972	broad.mit.edu	37	7	141722076	141722076	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:141722076C>T	uc003vwy.2	+	7	773	c.719C>T	c.(718-720)TCG>TTG	p.S240L		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	240	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGTTTGACTCGAGCATTGGG	0.522		NA											30	52					0	0	0	0
ZNF212	7988	broad.mit.edu	37	7	148947393	148947393	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:148947393G>A	uc003wfp.2	+	2	264	c.168G>A	c.(166-168)GAG>GAA	p.E56E		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AGAAGATGGAGTCCCAGGCTG	0.582		NA											6	80					0	0	0	0
HTR5A	3361	broad.mit.edu	37	7	154862705	154862705	+	Silent	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:154862705C>T	uc003wlu.1	+	1	160	c.96C>T	c.(94-96)AGC>AGT	p.S32S	uc011kvt.1_Intron|uc003wlt.2_Intron	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	32	Extracellular (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGCGCCCCAGCTCGCCCCTGC	0.607		NA											23	87					0	0	0	0
SGK223	157285	broad.mit.edu	37	8	8185978	8185978	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:8185978C>G	uc003wsh.3	-	4	2315	c.2315_splice	c.e4-1	p.G772_splice		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin								ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GACGAGGGACCTGAAGAGGAG	0.522		NA											8	6					0	0	0	0
GSR	2936	broad.mit.edu	37	8	30557645	30557645	+	Silent	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:30557645G>A	uc003xih.1	-	6	739	c.648C>T	c.(646-648)AGC>AGT	p.S216S		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	216					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TTATTCCTAAGCTGGCACCTA	0.433		NA											41	12					0	0	0	0
PXDNL	137902	broad.mit.edu	37	8	52320696	52320696	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:52320696G>A	uc003xqu.3	-	17	3589	c.3488C>T	c.(3487-3489)ACT>ATT	p.T1163I	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1163					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTTAACTGAAGTCAAATTACA	0.403		NA											4	82					0	0	0	0
PCMTD1	115294	broad.mit.edu	37	8	52773448	52773448	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:52773448T>C	uc003xqx.3	-	2	605	c.264A>G	c.(262-264)GGA>GGG	p.G88G	PCMTD1_uc003xqw.3_Silent_p.G88G|PCMTD1_uc011ldn.1_Intron|PCMTD1_uc010lya.2_Intron|PCMTD1_uc011ldo.1_Silent_p.G88G	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	88						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)				CGGTTCCACTTCCCAGGTTAA	0.323		NA											3	36					0	0	0	0
ST18	9705	broad.mit.edu	37	8	53126796	53126796	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:53126796T>C	uc003xqz.2	-	2	178	c.22A>G	c.(22-24)AAA>GAA	p.K8E	ST18_uc011ldq.1_Translation_Start_Site|ST18_uc011ldr.1_Translation_Start_Site|ST18_uc011lds.1_Translation_Start_Site|ST18_uc003xra.2_Missense_Mutation_p.K8E|ST18_uc003xrb.2_Missense_Mutation_p.K8E|ST18_uc010lyb.2_RNA	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	8						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CGCAGCGTTTTATCTTCAGCC	0.428		NA											58	68					0	0	0	0
MOS	4342	broad.mit.edu	37	8	57025569	57025569	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:57025569C>T	uc011leb.1	-	1	973	c.973G>A	c.(973-975)GCG>ACG	p.A325T		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	325	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			CTCTGCGCCGCGCTGGGTCTC	0.632		NA											18	25					0	0	0	0
SGK3	23678	broad.mit.edu	37	8	67740926	67740926	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:67740926C>A	uc003xwr.2	+	7	754	c.455C>A	c.(454-456)TCT>TAT	p.S152Y	SGK3_uc003xwp.2_Missense_Mutation_p.S146Y|SGK3_uc003xwt.2_Missense_Mutation_p.S152Y|SGK3_uc003xwu.2_Missense_Mutation_p.S152Y	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase 3 isoform	152					cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			ovary(1)|large_intestine(1)|lung(1)|breast(1)	4	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTGGGACCGTCTGGAAATCCT	0.328		NA											45	81					2.49e-17	3.07e-17	1	0
TRAM1	23471	broad.mit.edu	37	8	71487192	71487192	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:71487192C>T	uc003xyo.1	-	11	1270	c.1100G>A	c.(1099-1101)CGG>CAG	p.R367Q	TRAM1_uc011lfc.1_Missense_Mutation_p.R336Q	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	367	Cytoplasmic (Potential).				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TTTTTTATTCCGGGGAGAGTC	0.294		NA											18	14					0	0	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815640	106815640	+	Silent	SNP	T	T	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:106815640T>C	uc003ymd.2	+	8	3353	c.3330T>C	c.(3328-3330)GGT>GGC	p.G1110G	ZFPM2_uc011lhs.1_Silent_p.G841G	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	1110					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GTGTGAATGGTTCCAGCCAGG	0.438		NA											21	22					0	0	0	0
FAM83H	286077	broad.mit.edu	37	8	144808950	144808950	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr8:144808950G>C	uc003yzk.2	-	5	2750	c.2681C>G	c.(2680-2682)ACT>AGT	p.T894S	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	894					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAATCCTGTAGTTGGACTTCC	0.637		NA											20	22					0	0	0	0
WNK2	65268	broad.mit.edu	37	9	96055448	96055448	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:96055448C>T	uc004ati.1	+	23	5812	c.5812C>T	c.(5812-5814)CGG>TGG	p.R1938W	WNK2_uc011lud.1_Missense_Mutation_p.R1901W|WNK2_uc004atj.2_Missense_Mutation_p.R1901W|WNK2_uc004atk.2_Missense_Mutation_p.R1538W|WNK2_uc004atl.1_Missense_Mutation_p.R495W	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1938					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						GCAGAGTCTGCGGGAGAAGTA	0.607		NA											7	6					0	0	0	0
FAM22G	441457	broad.mit.edu	37	9	99694193	99694193	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:99694193A>C	uc004awq.1	+	2	921	c.206A>C	c.(205-207)GAT>GCT	p.D69A		NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN	hypothetical protein LOC441457	69										skin(1)	1		Acute lymphoblastic leukemia(62;0.0527)				GCAGGACAGGATGGCCGCGGC	0.647		NA											12	16					0	0	0	0
DBC1	1620	broad.mit.edu	37	9	121929496	121929496	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:121929496C>T	uc004bkc.2	-	8	2608	c.2152G>A	c.(2152-2154)GAC>AAC	p.D718N		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	718					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GAGAACAAGTCCAGCTGGGGT	0.542		NA											6	117					0	0	0	0
GPR21	2844	broad.mit.edu	37	9	125797792	125797792	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:125797792A>G	uc011lzk.1	+	1	947	c.947A>G	c.(946-948)AAG>AGG	p.K316R	RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA	NM_005294	NP_005285	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	316	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1						AGAGGACTAAAGCGCCTCTCA	0.453		NA											51	41					0	0	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130653215	130653215	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:130653215C>T	uc004bso.1	-	5	524	c.405G>A	c.(403-405)ATG>ATA	p.M135I	ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.M101I|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.M135I|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.M101I|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.M101I|ST6GALNAC6_uc010mxp.1_RNA	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	sialytransferase 7F	135	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0						GTGCATCATTCATGCGGATTG	0.617		NA											14	33					0	0	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130653241	130653241	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr9:130653241C>G	uc004bso.1	-	5	498	c.379G>C	c.(379-381)GAG>CAG	p.E127Q	ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.E93Q|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.E127Q|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.E93Q|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.E93Q|ST6GALNAC6_uc010mxp.1_RNA	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	sialytransferase 7F	127	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0						TCAGCCCGCTCGATCTCAGGG	0.592		NA											15	28					0	0	0	0
CABC1	56997	broad.mit.edu	37	1	227174248	227174250	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr1:227174248_227174250delAGA	uc001hqm.1	+	20	5173_5175	c.1754_1756delAGA	c.(1753-1758)GAGAAG>GAG	p.K586del	CABC1_uc001hqn.1_In_Frame_Del_p.K586del|CABC1_uc009xeq.1_In_Frame_Del_p.K534del|CABC1_uc010pvq.1_In_Frame_Del_p.K307del|CABC1_uc010pvr.1_In_Frame_Del_p.K260del|CABC1_uc001hqo.1_In_Frame_Del_p.K307del|CABC1_uc009xer.1_In_Frame_Del_p.K102del	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	586					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				AGCACCACCGAGAAGATCCACAA	0.591		NA											18	98	---	---	---	---	NA	NA	NA	NA
MLL2	8085	broad.mit.edu	37	12	49425072	49425073	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:49425072_49425073delCA	uc001rta.3	-	39	13415_13416	c.13415_13416delTG	c.(13414-13416)GTGfs	p.V4472fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4472					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TGCTGAGTTGCACATTCTTTGC	0.614		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			31	68	---	---	---	---	NA	NA	NA	NA
OR6C2	341416	broad.mit.edu	37	12	55846799	55846802	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr12:55846799_55846802delATAA	uc001sgz.1	+	1	802_805	c.802_805delATAA	c.(802-807)ATAAATfs	p.I268fs		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C,	268_269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						TGAGGTGGCCATAAATAAAGGAGT	0.436		NA											33	35	---	---	---	---	NA	NA	NA	NA
DECR2	26063	broad.mit.edu	37	16	457468	457471	+	Frame_Shift_Del	DEL	CTCT	CTCT	-	rs145497745		TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr16:457468_457471delCTCT	uc002chb.2	+	4	351_354	c.245_248delCTCT	c.(244-249)CCTCTCfs	p.P82fs	DECR2_uc002chc.2_5'UTR|DECR2_uc010bqv.2_5'UTR|DECR2_uc002chd.2_5'UTR|DECR2_uc002che.1_RNA	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2	82_83						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding				0		Hepatocellular(16;0.00015)				CGCTGCCTCCCTCTCTCTATGGAC	0.632		NA											13	39	---	---	---	---	NA	NA	NA	NA
TBKBP1	9755	broad.mit.edu	37	17	45774515	45774516	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:45774515_45774516delCT	uc002ilu.2	+	3	1258_1259	c.409_410delCT	c.(409-411)CTCfs	p.L137fs		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	137	Potential.				innate immune response						0						CTACGAGAAACTCTGCGTGGAG	0.569		NA											13	13	---	---	---	---	NA	NA	NA	NA
DNAH17	8632	broad.mit.edu	37	17	76424609	76424611	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr17:76424609_76424611delCTC	uc010dhp.1	-	22	3805_3807	c.3583_3585delGAG	c.(3583-3585)GAGdel	p.E1195del	DNAH17_uc002jvq.2_In_Frame_Del_p.E480del|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATCCTGCCTTCTCCTCGCGGGAC	0.532		NA											5	8	---	---	---	---	NA	NA	NA	NA
RAB12	201475	broad.mit.edu	37	18	8633275	8633277	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr18:8633275_8633277delAAG	uc002knp.2	+	3	659_661	c.376_378delAAG	c.(376-378)AAGdel	p.K127del		NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	127					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0						TGATATCACTAAGAAGGAGACAT	0.384		NA											27	135	---	---	---	---	NA	NA	NA	NA
DEDD2	162989	broad.mit.edu	37	19	42719365	42719374	+	Frame_Shift_Del	DEL	GAAGAGCTGG	GAAGAGCTGG	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr19:42719365_42719374delGAAGAGCTGG	uc002osu.1	-	3	427_436	c.359_368delCCAGCTCTTC	c.(358-369)TCCAGCTCTTCAfs	p.S120fs	DEDD2_uc002osv.1_RNA|DEDD2_uc002osw.1_Frame_Shift_Del_p.S120fs|DEDD2_uc002osx.1_Frame_Shift_Del_p.P4fs|DEDD2_uc002osy.1_Frame_Shift_Del_p.S120fs	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	death effector domain-containing  DNA binding	120_123					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity				0		Prostate(69;0.0704)				TGTCCTCTTTGAAGAGCTGGAGGTGCCATA	0.567		NA											10	98	---	---	---	---	NA	NA	NA	NA
RRM2	6241	broad.mit.edu	37	2	10267005	10267006	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:10267005_10267006insT	uc002rah.2	+	6	764_765	c.573_574insT	c.(571-576)GAATTTfs	p.E191fs		NM_001034	NP_001025	P31350	RIR2_HUMAN	ribonucleotide reductase M2 polypeptide isoform	191_192					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTACTAGGGAATTTCTCTTCAA	0.465		NA											16	230	---	---	---	---	NA	NA	NA	NA
ATP6V1C2	245973	broad.mit.edu	37	2	10908907	10908908	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:10908907_10908908delAA	uc002ras.2	+	6	550_551	c.441_442delAA	c.(439-444)ACAAACfs	p.T147fs	ATP6V1C2_uc002rat.2_Frame_Shift_Del_p.T147fs	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	147_148					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CTCTGAAGACAAACCTGGAGAA	0.569		NA											35	37	---	---	---	---	NA	NA	NA	NA
ACMSD	130013	broad.mit.edu	37	2	135596266	135596266	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr2:135596266delT	uc002ttz.2	+	1	81	c.14delT	c.(13-15)ATCfs	p.I5fs	ACMSD_uc002tua.2_5'UTR	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	5					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)		AAAATTGACATCCATAGTCAT	0.343		NA											25	39	---	---	---	---	NA	NA	NA	NA
ITSN1	6453	broad.mit.edu	37	21	35208857	35208859	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr21:35208857_35208859delAGG	uc002yta.1	+	29	3850_3852	c.3582_3584delAGG	c.(3580-3585)AAAGGA>AAA	p.G1195del	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_In_Frame_Del_p.G1119del|ITSN1_uc010gmg.2_In_Frame_Del_p.G1082del|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_In_Frame_Del_p.G1195del|ITSN1_uc010gmi.2_In_Frame_Del_p.G1158del|ITSN1_uc010gmj.2_In_Frame_Del_p.G1074del|ITSN1_uc002ysy.2_In_Frame_Del_p.G1190del|ITSN1_uc002ysx.2_In_Frame_Del_p.G1153del|ITSN1_uc002ytb.1_In_Frame_Del_p.G1190del|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_In_Frame_Del_p.G1087del|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_In_Frame_Del_p.G1190del|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_In_Frame_Del_p.G1058del|ITSN1_uc002yti.1_RNA	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	1195	SH3 5.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						ACTGGTGGAAAGGAGAAGTCAAT	0.532		NA											28	17	---	---	---	---	NA	NA	NA	NA
HSD17B8	7923	broad.mit.edu	37	6	33173441	33173442	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:33173441_33173442delTA	uc003odi.1	+	5	532_533	c.505_506delTA	c.(505-507)TATfs	p.Y169fs	uc003odj.1_5'Flank|MIR219-1_hsa-mir-219-1|MI0000296_5'Flank|RING1_uc011dqw.1_5'Flank|RING1_uc011dqx.1_5'Flank|RING1_uc003odk.2_5'Flank	NM_014234	NP_055049	Q92506	DHB8_HUMAN	estradiol 17 beta-dehydrogenase 8	169	NAD.	Proton acceptor (By similarity).			estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(1)|central_nervous_system(1)	2					NADH(DB00157)	GCAGACAAACTATGCAGCATCC	0.589		NA											12	41	---	---	---	---	NA	NA	NA	NA
SLC35B2	347734	broad.mit.edu	37	6	44222449	44222451	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:44222449_44222451delCTT	uc003oxd.2	-	4	1427_1429	c.1291_1293delAAG	c.(1291-1293)AAGdel	p.K431del	SLC35B2_uc011dvt.1_In_Frame_Del_p.K334del|SLC35B2_uc011dvu.1_In_Frame_Del_p.K298del	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	solute carrier family 35, member B2	431					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCCTCAAACCTTCTGCACAGGA	0.576		NA											77	64	---	---	---	---	NA	NA	NA	NA
AKD1	221264	broad.mit.edu	37	6	109867278	109867279	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr6:109867278_109867279delAT	uc003ptn.2	-	26	3093_3094	c.3016_3017delAT	c.(3016-3018)ATGfs	p.M1006fs	AKD1_uc011eat.1_Frame_Shift_Del_p.M85fs	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1006					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						TCTTCCACACATAGTTTTGCCA	0.45		NA											37	108	---	---	---	---	NA	NA	NA	NA
DAGLB	221955	broad.mit.edu	37	7	6452649	6452649	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:6452649delA	uc003sqa.2	-	12	1614	c.1444delT	c.(1444-1446)TATfs	p.Y482fs	DAGLB_uc003spy.2_Frame_Shift_Del_p.Y28fs|DAGLB_uc003spz.2_Frame_Shift_Del_p.Y179fs|DAGLB_uc011jwt.1_Frame_Shift_Del_p.Y296fs|DAGLB_uc011jwu.1_Frame_Shift_Del_p.Y353fs|DAGLB_uc003sqb.2_Frame_Shift_Del_p.Y201fs|DAGLB_uc003sqc.2_Frame_Shift_Del_p.Y201fs|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Frame_Shift_Del_p.Y441fs|DAGLB_uc011jww.1_RNA	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	482	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CTCTGAGAATATTCCTGCAGA	0.517		NA											23	21	---	---	---	---	NA	NA	NA	NA
EIF4H	7458	broad.mit.edu	37	7	73604163	73604171	+	In_Frame_Del	DEL	TCGGTCACT	TCGGTCACT	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:73604163_73604171delTCGGTCACT	uc003uad.1	+	4	332_340	c.324_332delTCGGTCACT	c.(322-333)GATCGGTCACTT>GAT	p.RSL109del	RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_In_Frame_Del_p.RSL109del|EIF4H_uc010lbm.2_In_Frame_Del_p.RSL109del|EIF4H_uc003uae.1_In_Frame_Del_p.RSL109del|EIF4H_uc003uaf.1_RNA|MIR590_hsa-mir-590|MI0003602_5'Flank	NM_022170	NP_071496	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	109_111	RRM.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0						TGTTGGGCGATCGGTCACTTCGTGTGGAC	0.426		NA											28	60	---	---	---	---	NA	NA	NA	NA
STEAP4	79689	broad.mit.edu	37	7	87908901	87908907	+	Frame_Shift_Del	DEL	TGTGGGC	TGTGGGC	-			TCGA-CQ-6225-01A-11D-1912-08	TCGA-CQ-6225-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cd311590-3c69-4ff2-8fbd-cb5b0f21975e	b9418a2e-bc40-4513-ae79-d62a4f886576	g.chr7:87908901_87908907delTGTGGGC	uc003ujs.2	-	5	1291_1297	c.1186_1192delGCCCACA	c.(1186-1194)GCCCACACCfs	p.A396fs	STEAP4_uc010lek.2_Frame_Shift_Del_p.A220fs	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	396_398	Helical; (Potential).				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)					TACACCAGGGTGTGGGCTGTACACAAG	0.411		NA											9	44	---	---	---	---	NA	NA	NA	NA