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_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RPTN	126638	broad.mit.edu	37	1	152128845	152128845	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:152128845C>G	ENST00000316073.3	-	3	794	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	244	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTATGTCTTTCAGACTGACCA	0.423000													100	115					0	0	0.870114	0	0
SUCO	51430	broad.mit.edu	37	1	172558719	172558719	+	Silent	SNP	A	A	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:172558719A>G	ENST00000367723.3	+	17	3058	c.2934A>G	c.(2932-2934)ccA>ccG	p.P978P	SUCO_ENST00000263688.3_Silent_p.P826P	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CAATAGTGCCACCAATAAATA	0.348000													4	20					0	0	0.150653	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102509067	102509067	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr14:102509067C>T	ENST00000360184.4	+	69	12659	c.12495C>T	c.(12493-12495)ccC>ccT	p.P4165P	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4165	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCAGCATTCCCGTCTCACGGA	0.557000													13	14					0	0	0.457914	0	0
BTN3A3	10384	broad.mit.edu	37	6	26448955	26448955	+	Splice_Site	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr6:26448955G>A	ENST00000244519.2	+	8	1180		c.e8-1		BTN3A3_ENST00000339789.4_Splice_Site|BTN3A3_ENST00000361232.3_Splice_Site	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3							integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TTCCATTGCAGAGTGGAGGAA	0.448000													47	72					0	0	0.870114	0	0
PCDH15	65217	broad.mit.edu	37	10	56138640	56138640	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:56138640C>T	ENST00000373965.2	-	4	614	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	PCDH15_ENST00000320301.6_Missense_Mutation_p.E74K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E79K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E74K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E74K|PCDH15_ENST00000395440.1_Missense_Mutation_p.E74K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E52K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E74K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E74K|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.E74K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E74K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E52K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E74K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E74K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E74K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	74	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAAGAAAGTTCTATGGTGGGG	0.428000										HNSCC(58;0.16)			53	108					0	0	0.870114	0	0
LIN37	55957	broad.mit.edu	37	19	36245020	36245020	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:36245020C>T	ENST00000301159.9	+	7	911	c.547C>T	c.(547-549)Cca>Tca	p.P183S	AC002398.9_ENST00000591613.2_3'UTR	NM_019104.2	NP_061977.1	Q96GY3	LIN37_HUMAN	lin-37 homolog (C. elegans)	183	Pro-rich.						protein binding			large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CATCCCATCTCCACTGCAGCC	0.627000													24	28					0	0	0.639603	0	0
USP19	10869	broad.mit.edu	37	3	49149394	49149394	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:49149394G>A	ENST00000453664.1	-	20	3135	c.2817C>T	c.(2815-2817)gcC>gcT	p.A939A	USP19_ENST00000398888.2_Silent_p.A848A|USP19_ENST00000398892.3_Silent_p.A888A|USP19_ENST00000398896.1_Silent_p.A656A|USP19_ENST00000398898.2_Silent_p.A888A|USP19_ENST00000434032.2_Silent_p.A949A|USP19_ENST00000417901.1_Silent_p.A951A	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	848					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAGGCGTGAGGCAGGTACAC	0.607000													14	7					0	0	0.500413	0	0
DCP1A	55802	broad.mit.edu	37	3	53376252	53376252	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:53376252T>C	ENST00000607628.1	-	3	332	c.223A>G	c.(223-225)Atg>Gtg	p.M75V	DCP1A_ENST00000606822.1_Missense_Mutation_p.M75V|DCP1A_ENST00000294241.6_Missense_Mutation_p.M75V|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	75					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		AGATTGTGCATATTTAGTCGA	0.318000													7	1					0	0	0.278610	0	0
PSG9	5678	broad.mit.edu	37	19	43763286	43763286	+	Splice_Site	SNP	C	C	T	rs4028446		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:43763286C>T	ENST00000418820.2	-	3	530	c.430_splice	c.e3-1	p.S144_splice	PSG9_ENST00000270077.3_Splice_Site_p.P237_splice|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000443718.3_Splice_Site_p.S144_splice|PSG9_ENST00000244293.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	144	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGGGCAGCTTCGCTGTGTGGA	0.493000													74	146					0	0	0.870114	0	0
EDDM3A	10876	broad.mit.edu	37	14	21216174	21216174	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr14:21216174C>T	ENST00000326842.2	+	2	562	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	145					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TAGAACCTATCAGCAACTAGA	0.453000													22	24					0	0	0.639603	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274150	39274150	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:39274150T>A	ENST00000391413.2	-	1	456	c.418A>T	c.(418-420)Agc>Tgc	p.S140C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	140	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.S140C(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgctgcagctgggg	0.672000													4	37					0	0	0.335167	0	0
ZNF667	63934	broad.mit.edu	37	19	56969527	56969527	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:56969527G>T	ENST00000591790.1	-	4	1678	c.250C>A	c.(250-252)Cct>Act	p.P84T	ZNF667_ENST00000292069.6_Missense_Mutation_p.P84T|ZNF667_ENST00000504904.3_Missense_Mutation_p.P84T|ZNF667_ENST00000342634.3_Missense_Mutation_p.P177T			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CACTCACCAGGAGCCCGGCGT	0.478000													6	73					3.59834e-05	3.79209e-05	0.217242	1	0
TMEM164	84187	broad.mit.edu	37	X	109310602	109310602	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chrX:109310602C>T	ENST00000372073.1	+	3	754	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	TMEM164_ENST00000372068.2_Missense_Mutation_p.R140W|TMEM164_ENST00000288381.4_Intron|TMEM164_ENST00000372072.3_5'UTR			Q5U3C3	TM164_HUMAN	transmembrane protein 164	140						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CCCTCCATGTCGGGGAGCTAT	0.403000													41	63					0	0	0.864702	0	0
MUC16	94025	broad.mit.edu	37	19	9086743	9086743	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9086743C>T	ENST00000397910.4	-	1	5275	c.5072G>A	c.(5071-5073)aGa>aAa	p.R1691K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1691	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGATGCTTCTTCCTGGAGC	0.483000													53	56					0	0	0.870114	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47393590	47393590	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr22:47393590G>A	ENST00000337137.4	+	10	1352	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.V349M|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.V337M|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.V318M	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	396	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGAAGAACTCGTGAGCCGGAT	0.507000													43	52					0	0	0.853193	0	0
FSCB	84075	broad.mit.edu	37	14	44975037	44975037	+	Missense_Mutation	SNP	C	C	T	rs138964489		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr14:44975037C>T	ENST00000340446.4	-	1	1445	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	385	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAGGGAGACCGAATTTCACC	0.527000													44	77					0	0	0.864702	0	0
PIPOX	51268	broad.mit.edu	37	17	27382170	27382170	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:27382170C>A	ENST00000323372.4	+	6	1223	c.897C>A	c.(895-897)agC>agA	p.S299R	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	299					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	AGATCCTGAGCAGCTTTGTCA	0.602000													17	138					2.37509e-13	2.62409e-13	0.592651	1	0
SCN9A	6335	broad.mit.edu	37	2	167143021	167143021	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:167143021C>T	ENST00000375387.4	-	11	1770	c.1430G>A	c.(1429-1431)aGa>aAa	p.R477K	SCN9A_ENST00000409672.1_Missense_Mutation_p.R476K|SCN9A_ENST00000409435.1_Missense_Mutation_p.R476K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R477K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	476						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTGTTTCTTCTTTCTTTAGC	0.408000													25	29					0	0	0.654019	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43871918	43871918	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:43871918G>A	ENST00000282406.4	+	2	216	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	36						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAAGATACGAGAGCTTTTAGC	0.398000													20	27					0	0	0.592651	0	0
PDE1C	5137	broad.mit.edu	37	7	31890345	31890345	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr7:31890345G>A	ENST00000396184.3	-	9	965	c.761C>T	c.(760-762)aCg>aTg	p.T254M	PDE1C_ENST00000321453.7_Missense_Mutation_p.T254M|PDE1C_ENST00000396191.1_Missense_Mutation_p.T254M|PDE1C_ENST00000396193.1_Missense_Mutation_p.T314M|PDE1C_ENST00000396182.2_Missense_Mutation_p.T254M	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	254	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTCCAGCTCCGTCAGCCAGTT	0.463000													35	11					0	0	0.779181	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													3	49					0	0	0.150653	0	0
HIRA	7290	broad.mit.edu	37	22	19346902	19346902	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr22:19346902C>T	ENST00000263208.5	-	18	2447	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	HIRA_ENST00000541063.1_Missense_Mutation_p.E687K|HIRA_ENST00000340170.4_Intron|HIRA_ENST00000546308.1_Missense_Mutation_p.E687K	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	731	Interaction with PAX3 (By similarity).|Interaction with histone H2B.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGTACCGTCTCCCACTCCTTC	0.602000													38	35					0	0	0.859065	0	0
TYK2	7297	broad.mit.edu	37	19	10473005	10473005	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:10473005C>T	ENST00000525621.1	-	11	2085	c.1604G>A	c.(1603-1605)gGc>gAc	p.G535D	TYK2_ENST00000529370.1_Missense_Mutation_p.G535D|TYK2_ENST00000524462.1_Missense_Mutation_p.G350D|TYK2_ENST00000264818.6_Missense_Mutation_p.G535D	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	535					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAGCAAGCAGCCCTGCAAGGC	0.652000													3	40					0	0	0.150653	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652235	45652235	+	RNA	SNP	C	C	G	rs149362183		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:45652235C>G	ENST00000427229.2	+	0	1749																											GAAGGAACATCTGAAGGAACA	0.478000													6	29					0	0	0.278610	0	0
SENP5	205564	broad.mit.edu	37	3	196657755	196657755	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:196657755G>C	ENST00000323460.5	+	10	2478	c.2229G>C	c.(2227-2229)agG>agC	p.R743S	SENP5_ENST00000419026.1_Missense_Mutation_p.R233S|SENP5_ENST00000445299.2_Missense_Mutation_p.R697S	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	743					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TGCGGAAGAGGATTTACAAGG	0.488000													22	61					0	0	0.681144	0	0
C1orf168	199920	broad.mit.edu	37	1	57252852	57252852	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:57252852C>T	ENST00000343433.6	-	4	1029	c.949G>A	c.(949-951)Gag>Aag	p.E317K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	317								p.E317*(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ACTTACCTCTCTGGAGACAGG	0.488000													35	42					0	0	0.804634	0	0
FAM178B	51252	broad.mit.edu	37	2	97543732	97543732	+	Silent	SNP	C	C	T	rs145363262		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:97543732C>T	ENST00000417561.3	-	20	2345	c.2346G>A	c.(2344-2346)acG>acA	p.T782T	FAM178B_ENST00000470789.1_5'UTR|FAM178B_ENST00000393526.2_Silent_p.T74T|FAM178B_ENST00000490605.2_Silent_p.T634T|FAM178B_ENST00000327896.3_Silent_p.T602T			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	782										large_intestine(1)|ovary(1)	2						CCCGGATCTGCGTGCTGATGT	0.647000													15	25					0	0	0.479597	0	0
ENTPD3	956	broad.mit.edu	37	3	40457535	40457535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:40457535G>T	ENST00000301825.3	+	7	920	c.802G>T	c.(802-804)Gag>Tag	p.E268*	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000456402.1_Nonsense_Mutation_p.E268*|ENTPD3_ENST00000445129.1_Nonsense_Mutation_p.E268*|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	268						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GAATGAGGCTGAGAAGAAGTT	0.552000													15	5					4.14922e-12	4.54754e-12	0.500413	1	0
PPHLN1	51535	broad.mit.edu	37	12	42745801	42745801	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:42745801G>A	ENST00000395568.2	+	3	271	c.187G>A	c.(187-189)Gag>Aag	p.E63K	PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000449194.2_Missense_Mutation_p.E63K|PPHLN1_ENST00000395580.3_Missense_Mutation_p.E70K|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000549190.1_Missense_Mutation_p.E81K|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000358314.7_Missense_Mutation_p.E63K|PPHLN1_ENST00000432191.2_Intron	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	63					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		AGACTATGACGAGGGCCGCAG	0.393000													23	18					0	0	0.681144	0	0
TRMT2A	27037	broad.mit.edu	37	22	20103246	20103246	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr22:20103246C>T	ENST00000252136.7	-	3	1045	c.657G>A	c.(655-657)aaG>aaA	p.K219K	TRMT2A_ENST00000439169.2_Silent_p.K219K|TRMT2A_ENST00000404751.3_Silent_p.K219K|TRMT2A_ENST00000403707.3_Silent_p.K219K	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	219					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						CCTTGTTGTGCTTGTGCCTCT	0.602000													10	19					0	0	0.411799	0	0
KLHL3	26249	broad.mit.edu	37	5	136974777	136974777	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr5:136974777G>A	ENST00000508657.1	-	10	1702	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	KLHL3_ENST00000309755.4_Missense_Mutation_p.R362W|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000506491.1_Missense_Mutation_p.R280W|KLHL3_ENST00000541417.1_Intron	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	362						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TCCACTGTCCGCACCCGCAGT	0.592000													3	31					0	0	0.115264	0	0
DNMT3B	1789	broad.mit.edu	37	20	31379433	31379433	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr20:31379433G>A	ENST00000328111.2	+	8	1161	c.840G>A	c.(838-840)ctG>ctA	p.L280L	DNMT3B_ENST00000348286.2_Silent_p.L280L|DNMT3B_ENST00000375623.4_Silent_p.L238L|DNMT3B_ENST00000443239.3_Silent_p.L238L|DNMT3B_ENST00000456297.2_Silent_p.L204L|DNMT3B_ENST00000201963.3_Silent_p.L292L|DNMT3B_ENST00000353855.2_Silent_p.L280L|DNMT3B_ENST00000344505.4_Silent_p.L280L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	280	Interaction with DNMT1 and DNMT3A.|PWWP.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGTGGCACTGGGGCTGTTCA	0.483000													18	154					0	0	0.608945	0	0
TTC18	118491	broad.mit.edu	37	10	75035242	75035242	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:75035242C>G	ENST00000310715.3	-	23	2965	c.2845G>C	c.(2845-2847)Gag>Cag	p.E949Q	TTC18_ENST00000394865.1_Missense_Mutation_p.E949Q|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.E418Q|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.E949Q|DNAJC9-AS1_ENST00000440197.2_RNA	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	949							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AGGTATTCCTCTGCCTTGGCA	0.473000													76	76					0	0	0.870114	0	0
MUC16	94025	broad.mit.edu	37	19	9084696	9084696	+	Silent	SNP	C	C	T	rs151239264	by1000genomes	TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9084696C>T	ENST00000397910.4	-	1	7322	c.7119G>A	c.(7117-7119)ctG>ctA	p.L2373L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2373	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGTTGATCAGATCAGAAG	0.443000													23	27					0	0	0.624587	0	0
OR12D2	26529	broad.mit.edu	37	6	29365090	29365090	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr6:29365090C>G	ENST00000383555.2	+	1	675	c.614C>G	c.(613-615)gCc>gGc	p.A205G	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A205V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GGGACAATTGCCATGGGCCCC	0.448000													59	87					0	0	0.870114	0	0
TPO	7173	broad.mit.edu	37	2	1459985	1459985	+	Silent	SNP	A	A	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:1459985A>G	ENST00000345913.4	+	7	841	c.750A>G	c.(748-750)aaA>aaG	p.K250K	TPO_ENST00000329066.4_Silent_p.K250K|TPO_ENST00000337415.3_Silent_p.K250K|TPO_ENST00000346956.3_Silent_p.K250K|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Silent_p.K250K|TPO_ENST00000349624.3_Silent_p.K250K|TPO_ENST00000382201.3_Silent_p.K250K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	250					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCACCAGCAAAGCTGCCTTCG	0.483000													11	20					0	0	0.411799	0	0
ZIC2	7546	broad.mit.edu	37	13	100635350	100635350	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr13:100635350C>T	ENST00000376335.3	+	1	1325	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	344					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAAAGTCTTCGCGCGCTCCG	0.617000													27	41					0	0	0.706142	0	0
PGR	5241	broad.mit.edu	37	11	100999748	100999748	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:100999748C>T	ENST00000325455.5	-	1	1507	c.54G>A	c.(52-54)ccG>ccA	p.P18P	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Silent_p.P18P	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	18	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CGGGGGAGGGCGGGCCGCCCG	0.682000													6	0					0	0	0.278610	0	0
C15orf59	388135	broad.mit.edu	37	15	74043429	74043429	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr15:74043429C>T	ENST00000569673.1	-	2	1247	c.43G>A	c.(43-45)Gac>Aac	p.D15N	C15orf59_ENST00000379822.4_Missense_Mutation_p.D15N			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	15										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTGCTGGGGTCGTCACTGGGC	0.652000													34	49					0	0	0.796494	0	0
GFOD2	81577	broad.mit.edu	37	16	67709163	67709163	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr16:67709163G>C	ENST00000268797.7	-	3	1398	c.1053C>G	c.(1051-1053)atC>atG	p.I351M	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	351						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TCGACCTCTTGATGGCATCCA	0.657000													35	15					0	0	0.812448	0	0
BICD1	636	broad.mit.edu	37	12	32458713	32458713	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:32458713T>A	ENST00000548411.1	+	4	843	c.662T>A	c.(661-663)aTc>aAc	p.I221N	BICD1_ENST00000281474.5_Missense_Mutation_p.I221N	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	221					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GAAGATGCCATCCGATTGAAA	0.463000													16	27					0	0	0.520397	0	0
MFAP3	4238	broad.mit.edu	37	5	153429537	153429537	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr5:153429537G>A	ENST00000436816.1	+	2	474	c.255G>A	c.(253-255)tgG>tgA	p.W85*	MFAP3_ENST00000439768.2_Intron|MFAP3_ENST00000322602.5_Nonsense_Mutation_p.W85*	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	85	Ig-like C2-type.					integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATGTCCATTGGCACAATTCAA	0.418000													18	32					0	0	0.575678	0	0
PSMA1	5682	broad.mit.edu	37	11	14632514	14632514	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:14632514T>A	ENST00000418988.2	-	2	346	c.19A>T	c.(19-21)Aag>Tag	p.K7*		NM_148976.2	NP_683877.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						ATTCTCACCTTCACCTTGCTG	0.418000													7	17					0	0	0.307466	0	0
RECQL5	9400	broad.mit.edu	37	17	73661241	73661241	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:73661241C>T	ENST00000420326.2	-	3	301	c.142G>A	c.(142-144)Gtc>Atc	p.V48I	RECQL5_ENST00000317905.5_Missense_Mutation_p.V48I|RECQL5_ENST00000340830.5_Missense_Mutation_p.V48I|RECQL5_ENST00000423245.2_Intron|RECQL5_ENST00000584999.1_Missense_Mutation_p.V48I	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	48	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CACACAAAGACGTCCTTGTTA	0.438000								Other identified genes with known or suspected DNA repair function					45	145					0	0	0.859065	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829615	26829615	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr22:26829615G>C	ENST00000215906.5	+	2	472	c.34G>C	c.(34-36)Gat>Cat	p.D12H		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	12					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CCCGAGGACTGATTGTCTGAC	0.652000													11	20					0	0	0.361761	0	0
ASPM	259266	broad.mit.edu	37	1	197069707	197069707	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:197069707G>A	ENST00000367409.4	-	18	8930	c.8674C>T	c.(8674-8676)Cac>Tac	p.H2892Y	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2892					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTCTGTAGTGATTTTGTAAA	0.343000													24	26					0	0	0.654019	0	0
R3HDM1	23518	broad.mit.edu	37	2	136399147	136399147	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:136399147C>G	ENST00000264160.4	+	15	1631	c.1261C>G	c.(1261-1263)Ctt>Gtt	p.L421V	R3HDM1_ENST00000409606.1_Missense_Mutation_p.L421V|R3HDM1_ENST00000410054.1_Missense_Mutation_p.L365V|R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000443537.2_Intron	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	421							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TACAGGCTCTCTTTCTCACAT	0.438000													46	65					0	0	0.870114	0	0
MUC17	140453	broad.mit.edu	37	7	100685655	100685655	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr7:100685655G>A	ENST00000306151.4	+	3	11022	c.10958G>A	c.(10957-10959)gGc>gAc	p.G3653D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3653	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTGAGGCTGGCACAGCTTCA	0.493000													4	177					0	0	0.150653	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40259747	40259747	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr15:40259747C>T	ENST00000263791.5	+	9	1263	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	EIF2AK4_ENST00000559624.1_Missense_Mutation_p.A407V|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.A407V	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	407	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGGTACACAGCTCAGCTCCTG	0.532000													26	36					0	0	0.681144	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													3	63					0	0	0.115264	0	0
FLG	2312	broad.mit.edu	37	1	152285143	152285143	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:152285143C>T	ENST00000368799.1	-	3	2254	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	740	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R740L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGACCCTCGGTGTCCACT	0.577000									Ichthyosis				250	325					0	0	0.870114	0	0
CNNM2	54805	broad.mit.edu	37	10	104678631	104678631	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:104678631G>C	ENST00000369878.3	+	1	518	c.394G>C	c.(394-396)Gag>Cag	p.E132Q	CNNM2_ENST00000369875.3_Missense_Mutation_p.E132Q|CNNM2_ENST00000433628.2_Missense_Mutation_p.E132Q	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	132					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAgcccgggggagcgcgggct	0.692000													20	19					0	0	0.592651	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32521155	32521155	+	RNA	SNP	G	G	C	rs79811264	by1000genomes	TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr6:32521155G>C	ENST00000411500.1	-	0	872					NR_001298.1																						GGTATTACCTGTTGGCTGAAG	0.403000													2	4					0	0	0.217242	0	0
RP11-44F14.1	0	broad.mit.edu	37	16	53404765	53404765	+	RNA	SNP	A	A	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr16:53404765A>G	ENST00000565421.1	-	0	276																											TGTGTTTTGCACCTTGCTCTG	0.388000													15	3					0	0	0.539581	0	0
CLDN1	9076	broad.mit.edu	37	3	190026161	190026161	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:190026161G>A	ENST00000295522.3	-	4	809	c.541C>T	c.(541-543)Cta>Tta	p.L181L		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	181					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		CAGCAAAGTAGGGCACCTCCC	0.512000													22	119					0	0	0.592651	0	0
NLRC5	84166	broad.mit.edu	37	16	57063689	57063689	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr16:57063689C>T	ENST00000436936.1	+	9	2473	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	NLRC5_ENST00000262510.6_Missense_Mutation_p.R750W|NLRC5_ENST00000539144.1_Missense_Mutation_p.R750W|NLRC5_ENST00000308149.7_Missense_Mutation_p.R750W			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	750					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCGCAGTTTTCGGGACAACCA	0.582000													8	8					0	0	0.335167	0	0
ABCA10	10349	broad.mit.edu	37	17	67171572	67171572	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:67171572C>T	ENST00000269081.4	-	24	3761	c.2852G>A	c.(2851-2853)gGc>gAc	p.G951D	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	951					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GCTGCTCATGCCGATAAAAGG	0.343000													4	84					0	0	0.184627	0	0
GNL3	26354	broad.mit.edu	37	3	52720819	52720819	+	Silent	SNP	T	T	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:52720819T>C	ENST00000394799.2	+	2	222	c.12T>C	c.(10-12)caT>caC	p.H4H	GNL3_ENST00000460073.1_Intron|GNL3_ENST00000418458.1_Silent_p.H16H	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	16	Basic (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TGACCTGCCATAAGCGGTATA	0.398000													18	7					0	0	0.624587	0	0
BCS1L	617	broad.mit.edu	37	2	219527690	219527690	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:219527690G>A	ENST00000431802.1	+	7	1673	c.974G>A	c.(973-975)cGc>cAc	p.R325H	BCS1L_ENST00000392109.1_Missense_Mutation_p.R325H|BCS1L_ENST00000439945.1_Missense_Mutation_p.R325H|BCS1L_ENST00000392110.2_Missense_Mutation_p.R325H|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000359273.3_Missense_Mutation_p.R325H|BCS1L_ENST00000392111.2_Missense_Mutation_p.R325H|BCS1L_ENST00000412366.1_Missense_Mutation_p.R325H			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	325					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCGAGGCCCGCATCGTGTTC	0.582000													4	96					0	0	0.150653	0	0
GTF2H1	2965	broad.mit.edu	37	11	18359808	18359808	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:18359808C>G	ENST00000265963.4	+	4	660	c.500C>G	c.(499-501)tCt>tGt	p.S167C	GTF2H1_ENST00000524753.4_5'UTR|GTF2H1_ENST00000534641.1_Missense_Mutation_p.S51C|GTF2H1_ENST00000453096.2_Missense_Mutation_p.S167C	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	167					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GTTGGCATTTCTGCTGCATTT	0.368000								Nucleotide excision repair (NER)					52	64					0	0	0.870114	0	0
SOX8	30812	broad.mit.edu	37	16	1035131	1035131	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr16:1035131C>T	ENST00000293894.3	+	3	1201	c.1086C>T	c.(1084-1086)agC>agT	p.S362S		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	362					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GTTCCTGCAGCGGCCAGTCCA	0.736000													4	1					0	0	0.150653	0	0
MUC16	94025	broad.mit.edu	37	19	9086890	9086890	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9086890C>A	ENST00000397910.4	-	1	5128	c.4925G>T	c.(4924-4926)gGa>gTa	p.G1642V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1642	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGGTGACTCCACTACTACT	0.512000													59	99					1.00798e-23	1.14127e-23	0.870114	1	0
DNAH7	56171	broad.mit.edu	37	2	196602680	196602680	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:196602680G>A	ENST00000312428.6	-	65	12140	c.12040C>T	c.(12040-12042)Cga>Tga	p.R4014*	DNAH7_ENST00000409063.1_Nonsense_Mutation_p.R497*|DNAH7_ENST00000484183.1_5'UTR	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	4014					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCTACACCTCGTCCAATCCAG	0.433000													21	24					0	0	0.624587	0	0
MUC16	94025	broad.mit.edu	37	19	9083519	9083519	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9083519C>T	ENST00000397910.4	-	1	8499	c.8296G>A	c.(8296-8298)Gaa>Aaa	p.E2766K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2766	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGAGTTTTCAGAACTCTGA	0.502000													27	39					0	0	0.667858	0	0
SSPO	23145	broad.mit.edu	37	7	149473162	149473162	+	RNA	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr7:149473162C>T	ENST00000378016.2	+	0	32							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTTGGGATGGCGTGGGCCCTG	0.652000													9	8					0	0	0.335167	0	0
GSTA2	2939	broad.mit.edu	37	6	52615381	52615381	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr6:52615381C>A	ENST00000493422.1	-	7	818	c.663G>T	c.(661-663)agG>agT	p.R221S		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	221					glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.R221S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	TTTATTAAAACCTGAAAATCT	0.413000													6	91					4.096e-09	4.41852e-09	0.217242	1	0
PPP1R42	286187	broad.mit.edu	37	8	67925256	67925256	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr8:67925256C>T	ENST00000522909.1	-	4	556	c.372G>A	c.(370-372)gaG>gaA	p.E124E	PPP1R42_ENST00000324682.5_Silent_p.E124E|PPP1R42_ENST00000517834.1_5'UTR			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	124																	GCCTCTGATTCTCAACATGAA	0.383000													32	75					0	0	0.750413	0	0
KANSL3	55683	broad.mit.edu	37	2	97274403	97274403	+	Splice_Site	SNP	T	T	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:97274403T>C	ENST00000599854.1	-	14	1791		c.e14-2		KANSL3_ENST00000487070.1_Splice_Site|KANSL3_ENST00000441706.2_Splice_Site|KANSL3_ENST00000440133.1_Splice_Site|KANSL3_ENST00000431828.1_Splice_Site	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3																		GGAGAGATCCTGAGTAAGGTG	0.522000													25	35					0	0	0.654019	0	0
TTLL3	26140	broad.mit.edu	37	3	9877030	9877030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:9877030C>T	ENST00000547186.1	+	13	2392	c.2176C>T	c.(2176-2178)Cga>Tga	p.R726*	TTLL3_ENST00000430793.1_3'UTR|TTLL3_ENST00000426895.4_Nonsense_Mutation_p.R869*|TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000455274.1_Intron|ARPC4-TTLL3_ENST00000397256.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	726					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GCCCCTGCTTCGATTCCCCAC	0.547000													45	12					0	0	0.853193	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267584	71267584	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr14:71267584C>T	ENST00000554752.2	-	2	619	c.620G>A	c.(619-621)aGa>aAa	p.R207K	MAP3K9_ENST00000555993.2_Missense_Mutation_p.R207K|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R207K			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	207	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ACATACCCCTCTTAGGGCAAT	0.532000													41	49					0	0	0.819951	0	0
IGLJ5	28829	broad.mit.edu	37	22	23256456	23256456	+	RNA	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr22:23256456G>A	ENST00000390327.2	+	0	49																											GGTGTTTGGTGAGGGGACGGA	0.552000													28	53					0	0	0.729181	0	0
OR52B2	255725	broad.mit.edu	37	11	6190885	6190885	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:6190885G>A	ENST00000530810.1	-	1	753	c.672C>T	c.(670-672)ctC>ctT	p.L224L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACACTGCTCGGAGGATCAGTG	0.498000													15	21					0	0	0.457914	0	0
KCNC1	3746	broad.mit.edu	37	11	17793798	17793798	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:17793798A>G	ENST00000379472.3	+	2	1187	c.1157A>G	c.(1156-1158)aAc>aGc	p.N386S	KCNC1_ENST00000265969.6_Missense_Mutation_p.N386S	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	386						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CACTTTAAGAACATCCCCATC	0.617000													29	50					0	0	0.769981	0	0
FEM1A	55527	broad.mit.edu	37	19	4793183	4793183	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:4793183G>A	ENST00000269856.3	+	1	1456	c.1317G>A	c.(1315-1317)gcG>gcA	p.A439A	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	439					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TCTCCTTCGCGGAACTCTTCT	0.622000													49	82					0	0	0.870114	0	0
IGF2R	3482	broad.mit.edu	37	6	160469544	160469544	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr6:160469544C>T	ENST00000356956.1	+	18	2631	c.2483C>T	c.(2482-2484)tCg>tTg	p.S828L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	828					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CGATATGCATCGGCTTGCCAG	0.483000													18	6					0	0	0.557998	0	0
ABCA10	10349	broad.mit.edu	37	17	67153022	67153022	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:67153022G>C	ENST00000269081.4	-	29	4315	c.3406C>G	c.(3406-3408)Ctg>Gtg	p.L1136V	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1136					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTCATTTCCAGACACCTTATG	0.303000													16	12					0	0	0.539581	0	0
MC5R	4161	broad.mit.edu	37	18	13826656	13826656	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr18:13826656C>T	ENST00000324750.3	+	1	1114	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	298					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.R298C(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATATGCCTTCCGCAGCCAAGA	0.483000													60	73					0	0	0.870114	0	0
ACADS	35	broad.mit.edu	37	12	121175211	121175211	+	Missense_Mutation	SNP	C	C	T	rs17848085		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:121175211C>T	ENST00000242592.4	+	4	564	c.413C>T	c.(412-414)gCg>gTg	p.A138V	ACADS_ENST00000411593.2_Missense_Mutation_p.A138V	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	138						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CAGAAGCAGGCGTGGGTCACG	0.622000													18	31					0	0	0.592651	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35512474	35512474	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:35512474C>T	ENST00000599564.1	+	15	1876	c.1805C>T	c.(1804-1806)tCg>tTg	p.S602L	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.S508L|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.S515L|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.S281L			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	515						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGAAGAACTCGTGGAGCGGC	0.582000													31	46					0	0	0.760397	0	0
GRIA2	2891	broad.mit.edu	37	4	158254056	158254056	+	Missense_Mutation	SNP	G	G	A	rs142538282	byFrequency	TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr4:158254056G>A	ENST00000296526.7	+	7	1293	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	GRIA2_ENST00000393815.2_Missense_Mutation_p.R276Q|GRIA2_ENST00000449365.1_Missense_Mutation_p.R276Q|GRIA2_ENST00000507898.1_Missense_Mutation_p.R276Q|GRIA2_ENST00000264426.9_Missense_Mutation_p.R323Q	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	323					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GAAATCTCCCGAAGGGGGAAT	0.478000													39	57					0	0	0.812448	0	0
BPIFB3	359710	broad.mit.edu	37	20	31651460	31651460	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr20:31651460G>A	ENST00000375494.3	+	6	631	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	211	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										TGTGGTGAATGAGCTCCTGGG	0.587000													33	190					0	0	0.788014	0	0
BRCA2	675	broad.mit.edu	37	13	32972674	32972674	+	Missense_Mutation	SNP	G	G	A	rs28897761		TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr13:32972674G>A	ENST00000544455.1	+	27	10251	c.10024G>A	c.(10024-10026)Gaa>Aaa	p.E3342K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E3342K	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3342					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AATAGCTGACGAAGAACTTGC	0.358000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			10	27					0	0	0.387290	0	0
DMBT1	1755	broad.mit.edu	37	10	124380632	124380632	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:124380632G>T	ENST00000338354.3	+	41	5063	c.4957G>T	c.(4957-4959)Gtg>Ttg	p.V1653L	DMBT1_ENST00000330163.4_Missense_Mutation_p.V1025L|DMBT1_ENST00000368956.2_Missense_Mutation_p.V1025L|DMBT1_ENST00000368955.3_Missense_Mutation_p.V1643L|DMBT1_ENST00000368909.3_Missense_Mutation_p.V1653L|DMBT1_ENST00000344338.3_Missense_Mutation_p.V1643L|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1653	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCGAGGCCGAGTGGAGGTCCT	0.562000													130	207					4.56115e-48	5.20731e-48	0.870114	1	0
TCHH	7062	broad.mit.edu	37	1	152080007	152080007	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr1:152080007G>A	ENST00000368804.1	-	2	5685	c.5686C>T	c.(5686-5688)Cgc>Tgc	p.R1896C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1896					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGACTTGGCGGTGCCTCTGT	0.582000													72	63					0	0	0.870114	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330892	39330892	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:39330892G>A	ENST00000221419.5	-	8	1443	c.1077C>T	c.(1075-1077)taC>taT	p.Y359Y	HNRNPL_ENST00000600873.1_Silent_p.Y226Y	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	359	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ACTGGGGGCCGTAGCGACTTG	0.652000													5	6					0	0	0.335167	0	0
ATP13A5	344905	broad.mit.edu	37	3	193068904	193068904	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:193068904G>A	ENST00000342358.4	-	7	810	c.693C>T	c.(691-693)atC>atT	p.I231I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	231					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGTCAAAATGATGATGGCCA	0.393000													30	58					0	0	0.760397	0	0
ASIC4	55515	broad.mit.edu	37	2	220396543	220396543	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:220396543C>T	ENST00000358078.4	+	2	1041	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	ASIC4_ENST00000347842.3_Missense_Mutation_p.R343W|ASIC4_ENST00000473709.1_3'UTR			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	343						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										GCTGCCCAGCCGGGCAGGGGG	0.627000													33	55					0	0	0.769981	0	0
MARCH3	115123	broad.mit.edu	37	5	126206381	126206381	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr5:126206381G>C	ENST00000308660.5	-	5	1220	c.706C>G	c.(706-708)Ccg>Gcg	p.P236A		NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	236					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		AGCAAGGACGGCTGGTTAGAA	0.463000													35	79					0	0	0.760397	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513043	89513043	+	RNA	SNP	A	A	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:89513043A>G	ENST00000498435.1	-	0	246																											AAGTGGATGCAGCATAGATCA	0.512000													70	90					0	0	0.870114	0	0
NPAS4	266743	broad.mit.edu	37	11	66191925	66191925	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr11:66191925C>T	ENST00000311034.2	+	7	1740	c.1564C>T	c.(1564-1566)Cct>Tct	p.P522S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	522					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTTCCCAGAGCCTCTGGGCAG	0.597000													6	216					0	0	0.217242	0	0
KMT2D	8085	broad.mit.edu	37	12	49436602	49436602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:49436602C>A	ENST00000301067.7	-	26	5703	c.5704G>T	c.(5704-5706)Gaa>Taa	p.E1902*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGTTCTCGTTCAGAGCCCAGA	0.547000													36	37					1.36615e-20	1.52164e-20	0.769981	1	0
PSPC1	55269	broad.mit.edu	37	13	20277482	20277482	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr13:20277482G>C	ENST00000338910.4	-	9	1564	c.1405C>G	c.(1405-1407)Caa>Gaa	p.Q469E		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	469	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GGTGGTCCTTGAGGAAATCTG	0.438000													11	21					0	0	0.575678	0	0
ITIH1	3697	broad.mit.edu	37	3	52825552	52825552	+	Silent	SNP	C	C	T	rs143276781	byFrequency	TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:52825552C>T	ENST00000273283.2	+	21	2538	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	ITIH1_ENST00000405128.3_Silent_p.I204I|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Silent_p.I696I|ITIH1_ENST00000537050.1_Silent_p.I550I	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	838	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.I838I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TCCACCCCATCGGTTTTGAAG	0.597000													21	4					0	0	0.608945	0	0
MBTPS1	8720	broad.mit.edu	37	16	84132744	84132744	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr16:84132744G>A	ENST00000343411.3	-	3	830	c.335C>T	c.(334-336)gCg>gTg	p.A112V		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	112					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	p.A112V(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TAGCAGCCCCGCTTTCTGTTT	0.423000													9	53					0	0	0.307466	0	0
SATB1	6304	broad.mit.edu	37	3	18391090	18391090	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:18391090G>T	ENST00000338745.6	-	11	3598	c.1864C>A	c.(1864-1866)Cct>Act	p.P622T	SATB1_ENST00000454909.2_Missense_Mutation_p.P622T|SATB1_ENST00000417717.2_Missense_Mutation_p.P654T|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	622					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGGAGCCGAGGGCCTGTCTGT	0.607000													22	4					2.70639e-06	2.89669e-06	0.624587	1	0
KCNA6	3742	broad.mit.edu	37	12	4919430	4919430	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:4919430C>T	ENST00000433855.1	+	1	1089	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	KCNA6_ENST00000280684.3_Missense_Mutation_p.R75C	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	75						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CCGGCGAGTCCGCTTCTTCGA	0.632000										HNSCC(72;0.22)			30	29					0	0	0.729181	0	0
KRT73	319101	broad.mit.edu	37	12	53005099	53005099	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr12:53005099C>G	ENST00000305748.3	-	6	1033	c.999G>C	c.(997-999)caG>caC	p.Q333H	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	333	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGGCTGCTAGCTGCAGCTCCT	0.547000													25	27					0	0	0.667858	0	0
CEP135	9662	broad.mit.edu	37	4	56841014	56841014	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr4:56841014A>G	ENST00000257287.4	+	11	1476	c.1352A>G	c.(1351-1353)gAa>gGa	p.E451G		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	451					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AAAGGTATAGAAGAAGAACGA	0.388000													30	44					0	0	0.740014	0	0
MUC16	94025	broad.mit.edu	37	19	9085596	9085596	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9085596C>T	ENST00000397910.4	-	1	6422	c.6219G>A	c.(6217-6219)ctG>ctA	p.L2073L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2073	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCTGAGGACAGTGCCTCAG	0.473000													63	101					0	0	0.870114	0	0
MUC16	94025	broad.mit.edu	37	19	9085982	9085982	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9085982C>T	ENST00000397910.4	-	1	6036	c.5833G>A	c.(5833-5835)Gaa>Aaa	p.E1945K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1945	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAATGACTTCTTCCACTGGA	0.488000													30	39					0	0	0.729181	0	0
MYH2	4620	broad.mit.edu	37	17	10424679	10424679	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:10424679C>T	ENST00000245503.5	-	40	6128	c.5744G>A	c.(5743-5745)cGg>cAg	p.R1915Q	MYH2_ENST00000532183.1_Missense_Mutation_p.R682Q|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1915Q|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1915					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AATGTCAGCCCGTTCCTCGGC	0.488000													56	115					0	0	0.870114	0	0
TADA2A	6871	broad.mit.edu	37	17	35771469	35771469	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr17:35771469C>T	ENST00000394395.2	+	2	190	c.17C>T	c.(16-18)cCc>cTc	p.P6L	TADA2A_ENST00000225396.6_Missense_Mutation_p.P6L|TADA2A_ENST00000417170.1_Missense_Mutation_p.P6L|TADA2A_ENST00000586023.1_Missense_Mutation_p.P6L	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	6			P -> S (in dbSNP:rs7211875).		histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CGTTTGGGTCCCTTTAGCAGT	0.473000													44	62					0	0	0.870114	0	0
MUC16	94025	broad.mit.edu	37	19	9086220	9086220	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9086220C>G	ENST00000397910.4	-	1	5798	c.5595G>C	c.(5593-5595)ttG>ttC	p.L1865F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1865	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCAGTATTCAATGACCTGT	0.502000													20	28					0	0	0.557998	0	0
TSGA10	80705	broad.mit.edu	37	2	99721848	99721848	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:99721848C>G	ENST00000393483.3	-	9	1277	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	TSGA10_ENST00000539964.1_Missense_Mutation_p.E145Q|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Missense_Mutation_p.E145Q|TSGA10_ENST00000355053.4_Missense_Mutation_p.E145Q|TSGA10_ENST00000410001.1_Missense_Mutation_p.E145Q	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	145					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCCAGCTCCTCTATCCTTTGT	0.338000													25	42					0	0	0.693898	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202430560	202430560	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:202430560G>A	ENST00000439140.1	-	9	913	c.869C>T	c.(868-870)gCa>gTa	p.A290V	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.A290V|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.A290V|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.A290V	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	290										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GGATAAGAATGCTGGATATTC	0.393000													7	17					0	0	0.307466	0	0
KALRN	8997	broad.mit.edu	37	3	124053163	124053163	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:124053163C>T	ENST00000360013.3	+	9	1589	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	KALRN_ENST00000460856.1_Missense_Mutation_p.P488S|KALRN_ENST00000240874.3_Missense_Mutation_p.P488S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	488					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCCCCTGAGCCCTGGGAACTC	0.567000													35	100					0	0	0.827153	0	0
DNAL1	83544	broad.mit.edu	37	14	74125657	74125657	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr14:74125657C>T	ENST00000553645.1	+	3	191	c.150C>T	c.(148-150)tgC>tgT	p.C50C	DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000540526.1_Silent_p.C11C|DNAL1_ENST00000311089.3_Intron|DNAL1_ENST00000554871.1_Silent_p.C11C	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	50										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		TTGCTAATTGCGAGTAAGTTC	0.403000													122	183					0	0	0.870114	0	0
PHLDB2	90102	broad.mit.edu	37	3	111637948	111637948	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr3:111637948A>T	ENST00000431670.2	+	4	2160	c.1749A>T	c.(1747-1749)agA>agT	p.R583S	PHLDB2_ENST00000393923.3_Missense_Mutation_p.R610S|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R583S|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R583S|PHLDB2_ENST00000495180.1_Missense_Mutation_p.R169S|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R583S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	583						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGAACAGAGATCTCAGGAGT	0.403000													53	157					0	0	0.870114	0	0
PTCD2	79810	broad.mit.edu	37	5	71654182	71654182	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr5:71654182G>A	ENST00000380639.5	+	10	1111	c.1095G>A	c.(1093-1095)acG>acA	p.T365T	PTCD2_ENST00000536805.1_Silent_p.T193T|PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000503868.1_Silent_p.T256T	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	365										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		AATCTCACACGTTGCTATTAA	0.532000													31	23					0	0	0.769981	0	0
CWF19L1	55280	broad.mit.edu	37	10	101997927	101997927	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:101997927C>T	ENST00000354105.4	-	11	1192	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	CWF19L1_ENST00000370379.1_Missense_Mutation_p.G124E|CWF19L1_ENST00000478047.1_5'UTR	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	369							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CTGGTAGTGTCCAATAGGCAG	0.498000													64	120					0	0	0.870114	0	0
CNN1	1264	broad.mit.edu	37	19	11657661	11657661	+	Silent	SNP	C	C	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:11657661C>A	ENST00000592923.1	+	5	694	c.117C>A	c.(115-117)ggC>ggA	p.G39G	CNN1_ENST00000252456.2_Silent_p.G89G|CNN1_ENST00000535659.2_Silent_p.G39G|CNN1_ENST00000544952.1_Silent_p.G69G			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	89	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						AGAACATCGGCAACTTCATCA	0.572000													8	75					5.18039e-06	5.50166e-06	0.278610	1	0
GRIA3	2892	broad.mit.edu	37	X	122532519	122532519	+	Silent	SNP	G	G	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chrX:122532519G>A	ENST00000264357.5	+	7	1237	c.945G>A	c.(943-945)ctG>ctA	p.L315L	GRIA3_ENST00000371251.1_Silent_p.L315L|GRIA3_ENST00000371256.5_Silent_p.L315L|GRIA3_ENST00000542149.1_Silent_p.L315L|GRIA3_ENST00000541091.1_Silent_p.L299L	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	315					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ACGCAATACTGGTCATAGCAG	0.453000													25	24					0	0	0.693898	0	0
PRRC2B	84726	broad.mit.edu	37	9	134340154	134340154	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr9:134340154C>T	ENST00000357304.4	+	11	1464	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	PRRC2B_ENST00000405995.1_Missense_Mutation_p.S470L|PRRC2B_ENST00000458550.1_Missense_Mutation_p.S470L|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	470							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGGCAGAAGTCATCAATGGGC	0.557000													3	16					0	0	0.115264	0	0
LRRC73	221424	broad.mit.edu	37	6	43476039	43476039	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr6:43476039G>C	ENST00000372441.1	-	3	1453	c.553C>G	c.(553-555)Ctg>Gtg	p.L185V		NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN	leucine rich repeat containing 73	185																	GCCTCACCCAGGGGGTTGTAA	0.602000													11	25					0	0	0.435327	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													6	139					0	0	0.217242	0	0
MUC16	94025	broad.mit.edu	37	19	9087590	9087590	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr19:9087590C>G	ENST00000397910.4	-	1	4428	c.4225G>C	c.(4225-4227)Gag>Cag	p.E1409Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1409	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTGTGTCTCAAATCCAGAT	0.473000													54	78					0	0	0.870114	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43206867	43206867	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr22:43206867G>T	ENST00000263245.5	-	12	1367	c.1148C>A	c.(1147-1149)aCc>aAc	p.T383N	ARFGAP3_ENST00000429508.2_Missense_Mutation_p.T311N|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.T339N	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	383					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						ATCTTTGCTGGTCTCTTTTTT	0.428000													50	67					2.29192e-23	2.57371e-23	0.870114	1	0
ZNF804A	91752	broad.mit.edu	37	2	185801739	185801740	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr2:185801739_185801740insA	ENST00000302277.6	+	4	2210_2211	c.1616_1617insA	c.(1615-1617)gaafs	p.E539fs		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	539						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGTGATTCTGGAAAAAATGAGA	0.347													12	31	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327913	16327915	+	In_Frame_Del	DEL	TGA	TGA	-	rs11969612	by1000genomes	TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr6:16327913_16327915delTGA	ENST00000244769.4	-	8	1563_1565	c.627_629delTCA	c.(625-630)cag>ca	p.HQ211del	ATXN1_ENST00000436367.1_In_Frame_Del_p.HQ211del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	211	Poly-Gln.			H -> HQ (in Ref. 1; CAA55793).	cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.H209delH(2)|p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgctgatgctgatgctgctgct	0.665													2	4	---	---	---	---					
UPF2	26019	broad.mit.edu	37	10	11997456	11997456	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr10:11997456delT	ENST00000356352.2	-	13	3098	c.2625delA	c.(2623-2625)ttfs	p.L875fs	UPF2_ENST00000357604.5_Frame_Shift_Del_p.L875fs|UPF2_ENST00000397053.2_Frame_Shift_Del_p.L875fs			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	875	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AAAGTTCTCCTAAGAACTTGG	0.368													31	53	---	---	---	---					
FLYWCH1	84256	broad.mit.edu	37	16	2980808	2980810	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr16:2980808_2980810delGGA	ENST00000399667.2	+	4	1086_1088	c.723_725delGGA	c.(721-726)ctg>ct	p.LE241del	FLYWCH1_ENST00000253928.9_In_Frame_Del_p.LE241del|FLYWCH1_ENST00000416288.2_In_Frame_Del_p.LE240del			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	241						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						AGCCGGCCCTGGAGGAGGAGGAG	0.704													3	6	---	---	---	---					
TPX2	22974	broad.mit.edu	37	20	30381707	30381707	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6473-01A-11D-1870-08	TCGA-CR-6473-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f3396a0-a38d-4069-b65a-c4c4dd6187ad	e938fff8-12eb-4f2a-82c9-a0a98df3aabb	g.chr20:30381707delT	ENST00000340513.4	+	15	2202	c.1674delT	c.(1672-1674)ccfs	p.P558fs	TPX2_ENST00000300403.6_Frame_Shift_Del_p.P522fs			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	522					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATGGGGTGCCTTTTAAGCCCC	0.428													7	890	---	---	---	---