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
OR1L1	26737	broad.mit.edu	37	9	125424836	125424836	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:125424836C>T	ENST00000373686.1	+	1	992	c.992C>T	c.(991-993)aCt>aTt	p.T331I				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	331					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						ACCGTACTGACTCCTATGCTA	0.393000													45	69					0	0	1	0	0
UGT1A6	54578	broad.mit.edu	37	2	234602469	234602469	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:234602469C>T	ENST00000305139.6	+	1	958	c.819C>T	c.(817-819)ttC>ttT	p.F273F	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_3'UTR|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Silent_p.F6F|UGT1A10_ENST00000344644.5_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000373424.1_Silent_p.F6F	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		ACATGGTCTTCATTGGAGGTA	0.433000													177	413					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47969775	47969775	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:47969775C>T	ENST00000318711.7	+	22	2800	c.2617C>T	c.(2617-2619)Cag>Tag	p.Q873*	DIP2A_ENST00000417564.2_Nonsense_Mutation_p.Q872*|DIP2A_ENST00000427143.2_Nonsense_Mutation_p.Q808*|DIP2A_ENST00000457905.3_Nonsense_Mutation_p.Q872*|DIP2A_ENST00000400274.1_Nonsense_Mutation_p.Q868*	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	872					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGACAGCTTCCAGTGGATGAG	0.647000													37	75					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5041932	5041932	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:5041932G>A	ENST00000251170.7	+	6	748	c.568G>A	c.(568-570)Gat>Aat	p.D190N		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	190						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCGTGAGGAGGATGCCCGCAA	0.667000													5	15					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41038976	41038976	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:41038976C>T	ENST00000399564.4	-	21	2526	c.2076G>A	c.(2074-2076)ggG>ggA	p.G692G	MROH2B_ENST00000506092.2_Silent_p.G247G	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGCTCTTTTTCCCAGAAAAAA	0.438000													14	55					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274319	39274319	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:39274319G>C	ENST00000391413.2	-	1	287	c.249C>G	c.(247-249)agC>agG	p.S83R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	83	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.S83R(1)		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)			GCTTGCAGCAGCTGGACACAC	0.662000													4	76					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123097534	123097534	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:123097534C>T	ENST00000466202.1	-	12	2670	c.2094G>A	c.(2092-2094)atG>atA	p.M698I	RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Missense_Mutation_p.M698I			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	698										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TCCATCTGACCATGACCAGAT	0.483000													53	141					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36932124	36932124	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:36932124G>A	ENST00000373103.1	-	17	2973	c.2426C>T	c.(2425-2427)cCc>cTc	p.P809L	CSF3R_ENST00000331941.5_Intron|CSF3R_ENST00000361632.4_Missense_Mutation_p.P782L|CSF3R_ENST00000373106.1_Missense_Mutation_p.P782L|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000440588.2_Missense_Mutation_p.P809L|CSF3R_ENST00000418048.2_Missense_Mutation_p.P782L|CSF3R_ENST00000338937.5_Missense_Mutation_p.P751S	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	782					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTTGGGGCTGGGGGTGAGGCC	0.652000													5	21					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48628176	48628176	+	Silent	SNP	C	C	T	rs146293806		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:48628176C>T	ENST00000006658.6	+	11	1401	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L	SPATA20_ENST00000356488.4_Silent_p.L411L|SPATA20_ENST00000393244.3_Silent_p.L367L|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	411					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TTCAGCAGCTCCTCCCGGAGC	0.627000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	155					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53453437	53453437	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:53453437G>A	ENST00000357666.4	-	5	1891	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	ZNF816_ENST00000444460.2_Missense_Mutation_p.H531Y|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCCCCAGTATGAATTCTCCTA	0.413000													33	128					0	0	1	0	0
LEMD2	221496	broad.mit.edu	37	6	33744783	33744783	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:33744783G>A	ENST00000293760.5	-	8	1328	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S	LEMD2_ENST00000508327.1_Missense_Mutation_p.P135S	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	437						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CCTACATATGGATAGCGCTCC	0.617000													31	83					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91859860	91859860	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:91859860G>A	ENST00000370425.3	-	4	382	c.284C>T	c.(283-285)cCt>cTt	p.P95L	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	95							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTATCAGAAGGAAAGGCAAA	0.313000													15	48					0	0	1	0	0
CTSO	1519	broad.mit.edu	37	4	156864341	156864341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:156864341G>A	ENST00000433477.3	-	2	280	c.211C>T	c.(211-213)Cag>Tag	p.Q71*		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	71					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TAGGAAAACTGATTTATTCCA	0.318000													37	124					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841674	94841674	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:94841674C>T	ENST00000357742.4	+	1	180	c.180C>T	c.(178-180)gcC>gcT	p.A60A	MCTP2_ENST00000543482.1_Silent_p.A60A|MCTP2_ENST00000451018.3_Silent_p.A60A|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	60					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGGCTGAGGCCTTGGCCCCAG	0.602000													22	65					0	0	1	0	0
DLX2	1746	broad.mit.edu	37	2	172966369	172966369	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:172966369C>T	ENST00000234198.4	-	2	767	c.406G>A	c.(406-408)Gag>Aag	p.E136K	DLX2_ENST00000466293.2_Missense_Mutation_p.E136K	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	136						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TCAAGGTCCTCCTTCTCTGCA	0.582000													18	68					0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15495347	15495347	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:15495347G>A	ENST00000383788.5	-	16	1412	c.1287C>T	c.(1285-1287)acC>acT	p.T429T	COLQ_ENST00000383786.5_Silent_p.T395T|COLQ_ENST00000383787.2_Silent_p.T420T|COLQ_ENST00000435459.2_Silent_p.T419T|COLQ_ENST00000603808.1_Silent_p.T430T|COLQ_ENST00000383781.4_Silent_p.T419T|COLQ_ENST00000383785.2_3'UTR	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	429					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CAGGGAGATAGGTCTCGCATG	0.557000													11	21					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85985197	85985197	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:85985197C>T	ENST00000372113.4	-	1	85	c.80G>A	c.(79-81)gGa>gAa	p.G27E	LRIT2_ENST00000538192.1_Missense_Mutation_p.G27E	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	27	LRRNT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GCAAGTGCATCCTGGCAGACA	0.473000													9	34					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65318931	65318931	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:65318931C>T	ENST00000301873.5	-	10	1831	c.1563G>A	c.(1561-1563)gaG>gaA	p.E521E	LTBP3_ENST00000536982.1_Silent_p.E147E|LTBP3_ENST00000322147.4_Silent_p.E521E	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	521						extracellular region	calcium ion binding|growth factor binding	p.E521D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCACTGACCTCTCCTCACTCA	0.637000													12	37					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247737658	247737658	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:247737658G>A	ENST00000366491.2	+	7	819	c.322G>A	c.(322-324)Gat>Aat	p.D108N	RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000366489.1_Missense_Mutation_p.D108N|GCSAML_ENST00000463359.1_Missense_Mutation_p.D96N|GCSAML_ENST00000366488.4_Missense_Mutation_p.D128N|GCSAML_ENST00000527541.1_Missense_Mutation_p.D96N|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000527084.1_Missense_Mutation_p.D96N|GCSAML_ENST00000536561.1_Missense_Mutation_p.D108N					germinal center-associated, signaling and motility-like																		CCATGAGCATGATTATGAAGT	0.438000													44	64					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156844765	156844765	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:156844765A>G	ENST00000368196.3	+	10	1421	c.1301A>G	c.(1300-1302)aAc>aGc	p.N434S	NTRK1_ENST00000358660.3_Missense_Mutation_p.N434S|NTRK1_ENST00000392302.2_Missense_Mutation_p.N404S|NTRK1_ENST00000524377.1_Missense_Mutation_p.N440S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	440					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CTTGTGCTCAACAAATGTGGA	0.572000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			53	129					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22891015	22891015	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:22891015G>A	ENST00000543184.1	-	5	1866	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	PRAME_ENST00000402697.1_Missense_Mutation_p.S335L|PRAME_ENST00000539862.1_Missense_Mutation_p.S319L|PRAME_ENST00000405655.3_Missense_Mutation_p.S335L|PRAME_ENST00000424204.2_Missense_Mutation_p.S319L|PRAME_ENST00000398743.2_Missense_Mutation_p.S335L|PRAME_ENST00000398741.1_Missense_Mutation_p.S335L	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	335					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATCCCCTTCCGAAAGCCGGCA	0.542000													68	138					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3598685	3598685	+	RNA	SNP	G	G	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:3598685G>T	ENST00000301749.7	-	0	3077				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAGGTGAGGGTGCGGTTTTC	0.627000													3	7					6.4e-05	6.41212e-05	1	1	0
CPZ	8532	broad.mit.edu	37	4	8603098	8603098	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:8603098G>A	ENST00000360986.4	+	3	544	c.370G>A	c.(370-372)Ggc>Agc	p.G124S	CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.G113S|CPZ_ENST00000506287.1_3'UTR	NM_001014447.2	NP_001014447.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	124	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CATCTGCGAGGGCCTGCGGGA	0.692000													6	7					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150841035	150841035	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:150841035G>A	ENST00000370357.4	+	14	2063	c.1818G>A	c.(1816-1818)caG>caA	p.Q606Q		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	606						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GATTTTTACAGGCCCAACCCA	0.493000													35	55					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179613743	179613743	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:179613743C>T	ENST00000360870.5	-	46	13606	c.13384G>A	c.(13384-13386)Gaa>Aaa	p.E4462K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	590	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCAAATTCGATAATTCTA	0.348000													15	59					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71663283	71663283	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:71663283G>A	ENST00000268485.3	+	2	525	c.481G>A	c.(481-483)Gag>Aag	p.E161K	MARVELD3_ENST00000567501.1_5'UTR|MARVELD3_ENST00000299952.4_Missense_Mutation_p.E161K|MARVELD3_ENST00000567566.1_Missense_Mutation_p.E161K|MARVELD3_ENST00000565261.1_Silent_p.R106R	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	161	Pro-rich.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ACCCCCTTCGGAGAGATATCT	0.507000													17	50					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60485599	60485599	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:60485599C>T	ENST00000360469.5	+	9	1398	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L	CDH4_ENST00000543233.1_Missense_Mutation_p.P363L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	437	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGTGGGGATCCATCCGGGCAC	0.602000													11	48					0	0	1	0	0
CEACAM19	56971	broad.mit.edu	37	19	45175224	45175224	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:45175224C>T	ENST00000358777.4	+	1	501	c.21C>T	c.(19-21)acC>acT	p.T7T	CEACAM19_ENST00000403660.3_Silent_p.T7T|CTB-171A8.1_ENST00000590796.1_RNA	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	7						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CCATGGGGACCCAGGGCTGCT	0.572000													7	10					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	716085	716085	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:716085C>T	ENST00000549091.1	+	36	4668	c.4576C>T	c.(4576-4578)Cac>Tac	p.H1526Y	WDR90_ENST00000547944.1_Missense_Mutation_p.H123Y|WDR90_ENST00000293879.4_Missense_Mutation_p.H1524Y|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000315764.4_Missense_Mutation_p.H123Y	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1524										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GATGCACCCCCACCCGGTGGC	0.672000													20	67					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73066682	73066682	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:73066682C>T	ENST00000263674.3	+	4	3908	c.3558C>T	c.(3556-3558)ctC>ctT	p.L1186L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1186	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTGCCTTTCTCAAGTTCCTAG	0.557000													18	52					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24185190	24185190	+	Silent	SNP	C	C	T	rs142830943	byFrequency	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:24185190C>T	ENST00000396671.2	-	8	888	c.540G>A	c.(538-540)ctG>ctA	p.L180L	THRB_ENST00000416420.1_Silent_p.L180L|THRB_ENST00000356447.4_Silent_p.L180L|THRB_ENST00000280696.5_Silent_p.L195L	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	180					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGCTGTCATCCAGCACCACTG	0.577000													24	52					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150839270	150839270	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:150839270C>G	ENST00000397238.2	+	15	1980	c.1980C>G	c.(1978-1980)aaC>aaG	p.N660K	AGAP3_ENST00000463381.1_Missense_Mutation_p.N329K	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	624	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGAACCAGAACGCAGCTCTGG	0.632000													62	213					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004025	126004025	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:126004025G>A	ENST00000299308.3	+	4	1140	c.1132G>A	c.(1132-1134)Gga>Aga	p.G378R		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	378						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGTGGACTTTGGAATTGATAA	0.463000													32	76					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25016461	25016461	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:25016461C>T	ENST00000400382.1	+	8	1304	c.549C>T	c.(547-549)acC>acT	p.T183T	GGT1_ENST00000400383.1_Silent_p.T183T|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400380.1_Silent_p.T183T|GGT1_ENST00000406383.2_Silent_p.T183T|GGT1_ENST00000248923.4_Silent_p.T183T			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	183					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACAAGCGGACCGTCATCGAGC	0.677000													4	84					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176903435	176903435	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:176903435G>A	ENST00000367654.2	-	16	2561	c.2548C>T	c.(2548-2550)Cgt>Tgt	p.R850C	ASTN1_ENST00000361833.2_Missense_Mutation_p.R842C|ASTN1_ENST00000367657.3_Missense_Mutation_p.R842C|ASTN1_ENST00000424564.2_Missense_Mutation_p.R842C			O14525	ASTN1_HUMAN	astrotactin 1	850					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AAATCTGCACGAGATGTAGCC	0.507000													19	48					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784482	9784482	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:9784482G>A	ENST00000304374.2	+	1	1225	c.829G>A	c.(829-831)Gcc>Acc	p.A277T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	277					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GAGCAGCGCAGCCTGCGCGCC	0.642000													14	54					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60904063	60904063	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:60904063G>A	ENST00000252999.3	-	34	4350	c.4284C>T	c.(4282-4284)tcC>tcT	p.S1428S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1428	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATAGAAGAGGGAGAGGGAAG	0.657000													23	79					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141802440	141802440	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:141802440G>A	ENST00000475668.2	+	69	8028	c.7974G>A	c.(7972-7974)ggG>ggA	p.G2658G	MGAM_ENST00000549489.2_Silent_p.G1762G			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1762					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACCTATGGGAAAGGACTCT	0.418000													8	19					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60926762	60926762	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:60926762G>A	ENST00000252999.3	-	6	1020	c.954C>T	c.(952-954)ttC>ttT	p.F318F	LAMA5_ENST00000370692.3_Silent_p.F318F|LAMA5_ENST00000370677.3_Silent_p.F318F	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	318	Laminin EGF-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCTCACCTGAACGGGTCCG	0.627000													5	19					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105189954	105189954	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:105189954C>T	ENST00000428173.2	+	25	4456	c.4153C>T	c.(4153-4155)Cca>Tca	p.P1385S	NRK_ENST00000243300.9_Missense_Mutation_p.P1384S			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1384	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCAGCTGATCCAGTGAACCG	0.448000										HNSCC(51;0.14)			9	22					0	0	1	0	0
DEPDC7	91614	broad.mit.edu	37	11	33053943	33053943	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:33053943C>T	ENST00000311388.3	+	6	1405	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	DEPDC7_ENST00000241051.3_Silent_p.F352F	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	352					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TTTTAGATTTCCAAAATAGAG	0.333000													43	95					0	0	1	0	0
FKBP9L	360132	broad.mit.edu	37	7	55755677	55755677	+	RNA	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:55755677C>T	ENST00000455909.1	-	0	389					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						TGAGAGTGTTCCTAtgagaag	0.408000													27	47					0	0	1	0	0
CENPO	79172	broad.mit.edu	37	2	25016350	25016350	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:25016350G>A	ENST00000473706.1	+	1	337	c.8G>A	c.(7-9)gGa>gAa	p.G3E	CENPO_ENST00000380834.2_5'UTR|CENPO_ENST00000260662.1_5'UTR	NM_001199803.1	NP_001186732.1	Q9BU64	CENPO_HUMAN	centromere protein O	0					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TGGATGGCGGGAATTCTCGCT	0.632000													14	40					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118537066	118537066	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:118537066A>C	ENST00000336338.5	-	35	5206	c.5141T>G	c.(5140-5142)cTc>cGc	p.L1714R		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1714						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCTTGACCGGAGATTAGGAGG	0.423000													50	61					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103090193	103090193	+	Translation_Start_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:103090193G>A	ENST00000295269.4	+	0	432					NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4						regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCCACACAGGGGTGTAGGTAG	0.502000													20	49					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150840688	150840688	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:150840688G>A	ENST00000474524.1	+	3	361	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	MED12L_ENST00000309237.4_Missense_Mutation_p.R108Q|MED12L_ENST00000273432.4_Missense_Mutation_p.R108Q|MED12L_ENST00000422248.2_Missense_Mutation_p.R108Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	108					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTACTGCTCGATCCCAGAGT	0.358000													13	26					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79410080	79410080	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:79410080C>T	ENST00000307745.7	+	9	1705	c.1705C>T	c.(1705-1707)Ctg>Ttg	p.L569L																								GCGCAAGTCCCTGGAGCTGGC	0.701000													15	28					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70532143	70532143	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:70532143C>A	ENST00000327305.6	-	3	777	c.120G>T	c.(118-120)caG>caT	p.Q40H	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.Q39H|NETO1_ENST00000299430.2_Missense_Mutation_p.Q39H|NETO1_ENST00000583169.1_Missense_Mutation_p.Q40H	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	40					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AAGTTCCACACTGCACTGACT	0.388000													14	45					1.36491e-13	1.38987e-13	1	1	0
NACA2	342538	broad.mit.edu	37	17	59668251	59668251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:59668251C>T	ENST00000521764.1	-	1	312	c.291G>A	c.(289-291)tgG>tgA	p.W97*		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	97	NAC-A/B.				protein transport	cytoplasm|nucleus		p.W97*(1)		large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TCTTAGATTTCCAGATAGTGA	0.448000													116	272					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75053355	75053355	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:75053355G>A	ENST00000453279.2	-	12	1889	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000257665.5_Missense_Mutation_p.P584L	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	584	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CAGGCTCGGGGGAGTCTGCAT	0.632000													32	131					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324797	152324797	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:152324797C>T	ENST00000388718.5	-	3	5537	c.5465G>A	c.(5464-5466)cGa>cAa	p.R1822Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1822							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTGTCCTCGTGAGTGTGG	0.522000													129	313					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220494022	220494022	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:220494022C>T	ENST00000358055.3	+	4	886	c.374C>T	c.(373-375)cCc>cTc	p.P125L	SLC4A3_ENST00000317151.3_Missense_Mutation_p.P125L|SLC4A3_ENST00000273063.6_Missense_Mutation_p.P125L|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Missense_Mutation_p.P125L|SLC4A3_ENST00000373762.3_Missense_Mutation_p.P125L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	125					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGACCCCTCCCATCCAGGAG	0.637000													11	20					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862611	14862611	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:14862611C>T	ENST00000285046.5	+	1	2143	c.2033C>T	c.(2032-2034)tCt>tTt	p.S678F	FGD5_ENST00000543601.1_Missense_Mutation_p.S437F	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	678					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTGTCTTCCTCTAGGTCCTCT	0.502000													20	41					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220494144	220494144	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:220494144G>A	ENST00000358055.3	+	4	1007		c.e4+1		SLC4A3_ENST00000317151.3_Splice_Site|SLC4A3_ENST00000273063.6_Splice_Site|SLC4A3_ENST00000497589.1_Splice_Site|SLC4A3_ENST00000373760.2_Splice_Site|SLC4A3_ENST00000373762.3_Splice_Site			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3						bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGGCAAAGGTAGGGGCTTC	0.617000													7	19					0	0	1	0	0
LAT2	7462	broad.mit.edu	37	7	73638359	73638359	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:73638359G>A	ENST00000460943.1	+	12	1349	c.460G>A	c.(460-462)Gag>Aag	p.E154K	LAT2_ENST00000275635.7_Missense_Mutation_p.E154K|LAT2_ENST00000398475.1_Missense_Mutation_p.E154K|LAT2_ENST00000344995.5_Missense_Mutation_p.E154K	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family, member 2	154					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						TGCCCAGCAGGAGGGCATAGG	0.627000													12	37					0	0	1	0	0
CCDC104	112942	broad.mit.edu	37	2	55749278	55749278	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:55749278G>A	ENST00000349456.4	+	2	304	c.156G>A	c.(154-156)gaG>gaA	p.E52E	CCDC104_ENST00000339012.3_Silent_p.E77E|CCDC104_ENST00000407816.3_Silent_p.E52E|CCDC104_ENST00000406691.3_Silent_p.E52E|CCDC104_ENST00000403007.3_Silent_p.E52E			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	52										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCTATACAGAGATTCATCAGG	0.234000													6	16					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185601	56185601	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:56185601C>T	ENST00000312253.1	-	1	107	c.108G>A	c.(106-108)ctG>ctA	p.L36L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GCACTGTGACCAGATAGATAA	0.428000													23	85					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188245470	188245470	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:188245470C>T	ENST00000409998.1	-	7	1010	c.229G>A	c.(229-231)Gat>Aat	p.D77N	CALCRL_ENST00000392370.3_Missense_Mutation_p.D77N|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.D77N			Q16602	CALRL_HUMAN	calcitonin receptor-like	77						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GCTGCAACATCGTTCCAGCAG	0.413000													10	31					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2315774	2315774	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:2315774C>T	ENST00000381458.5	+	11	1718	c.1655C>T	c.(1654-1656)cCc>cTc	p.P552L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	552					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCAGAACATCCCATAAAGATC	0.547000													25	70					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95734615	95734615	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:95734615C>T	ENST00000311106.3	-	11	1793	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.G472E	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	519					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGAAGGTCTCCTCTTCGGGA	0.343000													18	65					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123490021	123490021	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:123490021C>T	ENST00000280562.5	-	6	923	c.718G>A	c.(718-720)Gag>Aag	p.E240K	PITPNM2_ENST00000542749.1_Missense_Mutation_p.E240K|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Missense_Mutation_p.E240K|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E240K			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	240					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGGATGTTCTCCATGCTCAGC	0.612000													46	146					0	0	1	0	0
CHP1	11261	broad.mit.edu	37	15	41571573	41571573	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:41571573C>T	ENST00000334660.5	+	7	814	c.574C>T	c.(574-576)Cga>Tga	p.R192*	CHP1_ENST00000558351.1_3'UTR|CHP1_ENST00000560397.1_Nonsense_Mutation_p.R151*	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	192					potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity										AATGAGCATCCGATTTCTTCA	0.443000													16	32					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29606651	29606651	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:29606651C>T	ENST00000389048.3	-	5	2135	c.1229G>A	c.(1228-1230)gGa>gAa	p.G410E	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	410	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCTGCGGTTTCCACTGGAGAT	0.512000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				26	51					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129162698	129162698	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:129162698C>T	ENST00000540052.1	+	7	4211	c.4167C>T	c.(4165-4167)gtC>gtT	p.V1389V	BCORL1_ENST00000218147.7_Silent_p.V1389V|BCORL1_ENST00000303743.5_Silent_p.V1389V|BCORL1_ENST00000359304.2_Silent_p.V1259V	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1389					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCAACAAAGTCCAGGGGATCT	0.493000											OREG0019921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	96					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48530055	48530055	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:48530055G>A	ENST00000537810.1	-	52	7677	c.7073C>T	c.(7072-7074)aCa>aTa	p.T2358I	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.T2358I|FRYL_ENST00000358350.4_Missense_Mutation_p.T2358I			O94915	FRYL_HUMAN	FRY-like	2358					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTTTCTCTTGTTCTTCGCTA	0.358000													21	37					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106156562	106156562	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:106156562A>G	ENST00000540549.1	+	3	2323	c.1463A>G	c.(1462-1464)aAt>aGt	p.N488S	TET2_ENST00000413648.2_Missense_Mutation_p.N488S|TET2_ENST00000305737.2_Missense_Mutation_p.N488S|TET2_ENST00000380013.4_Missense_Mutation_p.N488S|TET2_ENST00000513237.1_Missense_Mutation_p.N509S|TET2_ENST00000394764.1_Missense_Mutation_p.N488S|TET2_ENST00000545826.1_Missense_Mutation_p.N488S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	488					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GTGAACAGGAATGACATACAG	0.458000			"""Mis N, F"""		MDS								29	73					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100687012	100687012	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:100687012C>T	ENST00000306151.4	+	3	12379	c.12315C>T	c.(12313-12315)ttC>ttT	p.F4105F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4105						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)					CCACTTCCTTCCCCACGGTGA	0.542000													26	90					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27463243	27463243	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:27463243G>A	ENST00000295736.5	-	9	1337	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	SLC4A7_ENST00000454389.1_Missense_Mutation_p.P432S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P308S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P419S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P299S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P419S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.P304S|SLC4A7_ENST00000388777.4_Intron|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P304S|SLC4A7_ENST00000425128.2_Missense_Mutation_p.P415S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P415S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	423						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GCACCCGTAGGAATTTTTCTC	0.388000													33	65					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321627	56321627	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:56321627G>A	ENST00000443188.1	-	5	1059	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	NLRP11_ENST00000589093.1_Missense_Mutation_p.H117Y|NLRP11_ENST00000360133.3_Missense_Mutation_p.H117Y|NLRP11_ENST00000589824.2_Missense_Mutation_p.H117Y|NLRP11_ENST00000592953.1_Missense_Mutation_p.H18Y	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	117							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AATTTATAATGAAATTTTCCA	0.388000													17	45					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643801	121643801	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:121643801C>T	ENST00000489711.1	+	13	1433	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	SLC15A2_ENST00000295605.2_Missense_Mutation_p.P318S	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	349					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GGTTCTAAATCCCCTTCTGGT	0.393000													40	138					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817731	7817731	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:7817731G>A	ENST00000329434.2	-	1	789	c.759C>T	c.(757-759)ttC>ttT	p.F253F	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCACATAAATGAAGGTAATGG	0.502000													46	91					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33680005	33680005	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:33680005C>T	ENST00000394566.1	-	7	2348	c.2076G>A	c.(2074-2076)aaG>aaA	p.K692K	SLFN11_ENST00000308377.4_Silent_p.K692K	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	692						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGGCCACCCTTTGCTCTCC	0.483000													46	130					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72147103	72147103	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:72147103G>A	ENST00000305425.4	-	4	1596	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S	DACH1_ENST00000359684.2_Missense_Mutation_p.P444S|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	442					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGGCTGACAGGAATTAGAGGG	0.438000													18	44					0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4609466	4609466	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:4609466G>A	ENST00000261250.3	-	11	1365	c.1278C>T	c.(1276-1278)atC>atT	p.I426I	C12orf4_ENST00000545746.1_Silent_p.I426I	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	426										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		AAGCAACATGGATTTCTGAGA	0.383000													25	55					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156880118	156880118	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:156880118G>A	ENST00000338302.3	+	15	1996	c.1771G>A	c.(1771-1773)Gag>Aag	p.E591K	PEAR1_ENST00000292357.7_Missense_Mutation_p.E591K			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	591	EGF-like 7.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGTCTCCCTGAGAATGGCAA	0.642000											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	69	202					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024554	16024554	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:16024554C>T	ENST00000402119.3	-	12	1989	c.1563G>A	c.(1561-1563)gcG>gcA	p.A521A	CYP4F11_ENST00000326742.7_3'UTR|CYP4F11_ENST00000248041.7_Silent_p.A521A	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	521					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ACTGTGAGTTCGCACCCAGGG	0.592000													8	25					0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22343421	22343421	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:22343421G>A	ENST00000299853.5	+	20	2152	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q	POLR3E_ENST00000418581.2_Missense_Mutation_p.R626Q|POLR3E_ENST00000564209.1_Intron|POLR3E_ENST00000359210.4_Intron	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	662					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AAAAATTACCGGGTACGCCGA	0.398000													37	91					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33464970	33464970	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:33464970G>A	ENST00000379471.2	-	21	2773	c.2686C>T	c.(2686-2688)Ccc>Tcc	p.P896S	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.P844S			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	896					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCAACCTGGGGGGAACTAAAG	0.512000													21	31					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9012839	9012839	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:9012839C>T	ENST00000397910.4	-	34	38808	c.38605G>A	c.(38605-38607)Gag>Aag	p.E12869K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12871	SEA 6.			Missing (in Ref. 3; AAK74120).	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						ATGTCCTCCTCGTACTGCAGG	0.582000													65	145					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130159114	130159114	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:130159114G>A	ENST00000265379.6	+	35	6426	c.5932G>A	c.(5932-5934)Gag>Aag	p.E1978K	COL6A5_ENST00000432398.2_Missense_Mutation_p.E1978K			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1978	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGCAAAGGATGAGTTTAAGGC	0.403000													10	30					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586332	169586332	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:169586332G>A	ENST00000263686.6	-	3	452	c.415C>T	c.(415-417)Ccg>Tcg	p.P139S	SELP_ENST00000367791.2_Missense_Mutation_p.P139S|SELP_ENST00000367786.2_Missense_Mutation_p.P139S|SELP_ENST00000367794.2_Missense_Mutation_p.P139S|SELP_ENST00000367793.2_Missense_Mutation_p.P139S|SELP_ENST00000458599.2_Missense_Mutation_p.P139S|SELP_ENST00000367792.2_Missense_Mutation_p.P139S|SELP_ENST00000367788.2_Missense_Mutation_p.P139S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	139	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GGGGCTGACGGACTCTTGATG	0.463000													56	142					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17464352	17464352	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:17464352C>T	ENST00000302539.4	-	10	1670	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E	ABCC8_ENST00000389817.3_Silent_p.E515E	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	515	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGAAGATGTTCTCCCAGGCGT	0.597000													26	77					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156928857	156928857	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:156928857C>T	ENST00000368194.3	-	16	2399	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.E414K	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	414	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGATCTGCTCTTGGATCTCA	0.602000													18	39					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881305	33881305	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:33881305G>A	ENST00000504830.1	-	2	743	c.408C>T	c.(406-408)gcC>gcT	p.A136A	ADAMTS12_ENST00000352040.3_Silent_p.A136A|ADAMTS12_ENST00000515401.1_Silent_p.A136A	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	136					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCAGAGGGGGGCAGAGGAAG	0.527000										HNSCC(64;0.19)			31	91					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20030588	20030588	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:20030588G>A	ENST00000379651.3	-	14	1846	c.1828C>T	c.(1828-1830)Ccc>Tcc	p.P610S	MAP7D2_ENST00000443379.3_Missense_Mutation_p.P565S|MAP7D2_ENST00000379643.5_Missense_Mutation_p.P651S|MAP7D2_ENST00000452324.3_Missense_Mutation_p.P558S|MAP7D2_ENST00000543767.1_Missense_Mutation_p.P495S	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	610										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						ATGTCTTGGGGATAAGTTTCT	0.448000													6	107					0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130784838	130784838	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:130784838G>A	ENST00000265909.4	-	1	1566	c.997C>T	c.(997-999)Cac>Tac	p.H333Y	SNX19_ENST00000533214.1_Missense_Mutation_p.H333Y|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	333					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACAGCTTCGTGGCCTTCTTCA	0.507000													24	81					0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47616176	47616176	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:47616176G>A	ENST00000397728.3	-	18	1754	c.1676C>T	c.(1675-1677)aCc>aTc	p.T559I	LSS_ENST00000356396.4_Missense_Mutation_p.T559I|LSS_ENST00000457828.2_Missense_Mutation_p.T479I|LSS_ENST00000522411.1_Missense_Mutation_p.T548I	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	559					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CTGCGTGAGGGTCTCCCTGGA	0.542000													14	31					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27406903	27406903	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:27406903G>A	ENST00000379214.4	-	5	957	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S	LGR4_ENST00000389858.4_Missense_Mutation_p.P148S|LGR4_ENST00000480977.2_Missense_Mutation_p.P124S	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	172						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TTGCTGAGGGGGTGCACAGGC	0.527000													29	68					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924123	105924123	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:105924123G>A	ENST00000393359.2	-	2	1062	c.636C>T	c.(634-636)atC>atT	p.I212I	TGFBRAP1_ENST00000258449.1_Silent_p.I212I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	212	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCCTCTTGACGATCGGCGGCC	0.592000													55	166					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52547738	52547738	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:52547738C>T	ENST00000321725.6	+	31	3352	c.3276C>T	c.(3274-3276)gtC>gtT	p.V1092V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1092	FAS1 3.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCCAGAGGGTCTGGGTGCAGA	0.607000													17	32					0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69722078	69722078	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:69722078T>C	ENST00000194900.4	+	21	2850	c.2509T>C	c.(2509-2511)Tct>Cct	p.S837P	DLG3_ENST00000374360.3_Missense_Mutation_p.S805P|DLG3_ENST00000374355.3_Missense_Mutation_p.S500P|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000542398.1_Missense_Mutation_p.S354P			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	805					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TGAGGACCAGTCTGGGCACTA	0.423000													10	21					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30009039	30009039	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:30009039G>A	ENST00000346128.6	-	23	4452	c.3978C>T	c.(3976-3978)atC>atT	p.I1326I	TJP1_ENST00000356107.6_Silent_p.I1326I|TJP1_ENST00000400011.2_Silent_p.I1250I|TJP1_ENST00000545208.2_Silent_p.I1246I	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1326					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GAGGTTCTGGGATCCTAACAG	0.343000													12	43					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39081698	39081698	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:39081698C>T	ENST00000209718.3	-	7	1474	c.1050G>A	c.(1048-1050)caG>caA	p.Q350Q	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Silent_p.Q213Q	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	350	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				ATTCATTGTTCTGCCGCTCCA	0.547000													32	66					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24434540	24434540	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:24434540G>A	ENST00000330966.7	-	3	350	c.188C>T	c.(187-189)gCc>gTc	p.A63V	MYOM3_ENST00000329601.7_Missense_Mutation_p.A62V|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.A62V			Q5VTT5	MYOM3_HUMAN	myomesin 3	62										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTAGTCCGCGGCGCTGAACTC	0.632000													19	33					0	0	1	0	0
C17orf98	388381	broad.mit.edu	37	17	36993474	36993474	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:36993474C>T	ENST00000398575.4	-	2	292	c.227G>A	c.(226-228)aGg>aAg	p.R76K		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	76										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						CCAGCCATCCCTTCCTGTACC	0.532000													34	121					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	878589	878589	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:878589G>A	ENST00000323510.4	-	8	863	c.864C>T	c.(862-864)tcC>tcT	p.S288S	BRD9_ENST00000467963.1_Silent_p.S384S|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000388890.4_Silent_p.S268S|BRD9_ENST00000483173.1_Silent_p.S331S			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	384							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TAGTGGCACTGGAGAGAAAGG	0.562000													10	85					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58573698	58573698	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:58573698T>A	ENST00000317147.5	-	35	5298	c.4966A>T	c.(4966-4968)Ata>Tta	p.I1656L	CNOT1_ENST00000569240.1_Missense_Mutation_p.I1651L|CNOT1_ENST00000245138.4_Missense_Mutation_p.I507L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1656					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGAGCAGCTATGGCATCCCGA	0.438000													28	58					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55251330	55251330	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:55251330C>T	ENST00000251091.5	+	10	2161	c.1856C>T	c.(1855-1857)gCc>gTc	p.A619V	SAMD4A_ENST00000554335.1_Missense_Mutation_p.A707V|SAMD4A_ENST00000555192.1_Missense_Mutation_p.A334V|SAMD4A_ENST00000357634.3_Missense_Mutation_p.A706V|SAMD4A_ENST00000392067.3_Missense_Mutation_p.A707V	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	707					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						ACCGAACACGCCCTGGGAGGT	0.552000													23	100					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933057	39933057	+	Silent	SNP	T	T	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:39933057T>C	ENST00000342274.4	-	4	1904	c.1542A>G	c.(1540-1542)ccA>ccG	p.P514P	BCOR_ENST00000378444.4_Silent_p.P514P|BCOR_ENST00000397354.3_Silent_p.P514P|BCOR_ENST00000378455.4_Silent_p.P514P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	514	Interaction with BCL6.				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGTTAGGACTTGGCCCGGGCA	0.507000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						17	35					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696118	10696118	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:10696118C>T	ENST00000302079.6	-	43	6804	c.6805G>A	c.(6805-6807)Gga>Aga	p.G2269R	PIEZO2_ENST00000538948.1_Missense_Mutation_p.G226R|PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2294R|PIEZO2_ENST00000285141.4_Missense_Mutation_p.G124R|PIEZO2_ENST00000503781.3_Missense_Mutation_p.G2269R			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2269						integral to membrane	ion channel activity										AAGTGAATTCCGAACACAAGA	0.502000													45	96					0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39406387	39406387	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:39406387G>A	ENST00000378803.1	-	8	867	c.868C>T	c.(868-870)Caa>Taa	p.Q290*	CDKL4_ENST00000395035.3_Nonsense_Mutation_p.Q290*	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	290						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGGGCCTCTTGAAAAGAATCA	0.403000													26	76					0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125989792	125989792	+	Missense_Mutation	SNP	G	G	A	rs144443575		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:125989792G>A	ENST00000319286.5	+	3	1436	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTCCACCCTGGTGATTCACCA	0.443000										HNSCC(60;0.17)			32	87					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22134091	22134091	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:22134091C>T	ENST00000408935.1	+	1	795	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ACACCAGCTTCTCCATTGACA	0.512000													14	42					0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113346562	113346562	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:113346562C>T	ENST00000452357.2	+	2	592	c.402C>T	c.(400-402)ttC>ttT	p.F134F	OAS1_ENST00000551241.1_Silent_p.F134F|OAS1_ENST00000553185.1_Silent_p.F134F|OAS1_ENST00000202917.5_Silent_p.F134F|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Silent_p.F134F	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	134	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CGCTCAGCTTCGTACTGAGTT	0.572000													30	68					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27572012	27572012	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:27572012C>T	ENST00000333743.6	+	4	581	c.327C>T	c.(325-327)ttC>ttT	p.F109F	GABRG3_ENST00000555083.1_Silent_p.F109F	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	109					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.F109F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GCCTTCGATTCAACAGCACAA	0.423000													36	112					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79414164	79414164	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:79414164C>T	ENST00000307745.7	+	15	3266	c.3266C>T	c.(3265-3267)aCc>aTc	p.T1089I																								ATGCAAACCACCGCCCCGGGG	0.677000													11	39					0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89861701	89861701	+	Silent	SNP	T	T	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:89861701T>A	ENST00000287908.3	+	5	1629	c.1236T>A	c.(1234-1236)atT>atA	p.I412I	STEAP2_ENST00000394629.2_Silent_p.I412I|STEAP2_ENST00000394622.2_Silent_p.I412I|STEAP2_ENST00000394626.1_Silent_p.I412I|STEAP2_ENST00000402625.2_Intron|STEAP2_ENST00000394632.1_Intron|STEAP2_ENST00000394621.2_Silent_p.I412I	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	412					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ATGTTTTAATTTATGGATGGA	0.378000													6	29					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55361822	55361822	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:55361822C>T	ENST00000536015.1	-	11	1140	c.1021G>A	c.(1021-1023)Gtt>Att	p.V341I	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.V341I|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	341					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				ACCGTGTAAACCATGTAGTTC	0.294000													6	22					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876370	18876370	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:18876370G>A	ENST00000266505.7	-	4	505	c.242C>T	c.(241-243)tCt>tTt	p.S81F	PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.S79F			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	81					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCGGTTTTCAGAATATGTGTT	0.343000													18	36					0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130941631	130941631	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:130941631G>A	ENST00000538431.1	-	8	1102	c.855C>T	c.(853-855)gcC>gcT	p.A285A	CIZ1_ENST00000357558.5_Silent_p.A285A|CIZ1_ENST00000393608.1_Silent_p.A285A|CIZ1_ENST00000372948.3_Silent_p.A285A|CIZ1_ENST00000277465.4_Silent_p.A285A|CIZ1_ENST00000372954.1_Silent_p.A261A|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000325721.8_Silent_p.A256A|CIZ1_ENST00000372938.5_Silent_p.A285A|CIZ1_ENST00000541172.1_Silent_p.A184A	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	285	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGTCATCCGGGCCTGCGGCT	0.577000													30	50					0	0	1	0	0
CT45A1	541466	broad.mit.edu	37	X	134856771	134856771	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:134856771G>A	ENST00000370741.3	+	5	791	c.546G>A	c.(544-546)aaG>aaA	p.K182K	CT45A1_ENST00000482795.1_3'UTR	NM_001017417.1	NP_001017417.1	Q5HYN5	CT451_HUMAN	cancer/testis antigen family 45, member A1	182																	AGCACCTTAAGAAGAAACTGA	0.383000													22	470					0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89854874	89854874	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:89854874G>A	ENST00000287908.3	+	2	871	c.478G>A	c.(478-480)Gat>Aat	p.D160N	STEAP2_ENST00000394629.2_Missense_Mutation_p.D160N|STEAP2_ENST00000394622.2_Missense_Mutation_p.D160N|STEAP2_ENST00000394626.1_Missense_Mutation_p.D160N|STEAP2_ENST00000402625.2_Missense_Mutation_p.D160N|STEAP2_ENST00000394632.1_Missense_Mutation_p.D160N|STEAP2_ENST00000394621.2_Missense_Mutation_p.D160N	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	160					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AGGACCTAAGGATGCCAGCCG	0.338000													47	98					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111779807	111779807	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:111779807C>T	ENST00000261726.6	+	21	3763	c.3609C>T	c.(3607-3609)ttC>ttT	p.F1203F		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1203						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCTCTCCTTCCAGCTCAACC	0.617000													22	78					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58773948	58773948	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:58773948C>T	ENST00000269829.4	+	7	2450	c.1976C>T	c.(1975-1977)cCt>cTt	p.P659L	ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.P631L|ZNF544_ENST00000600044.1_Missense_Mutation_p.P631L|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599953.1_Missense_Mutation_p.P517L|ZNF544_ENST00000415203.2_Missense_Mutation_p.P631L|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596652.1_Missense_Mutation_p.P659L	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GGTGAGAAACCTTTTGAGTGT	0.458000													40	111					0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49017013	49017013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:49017013C>T	ENST00000356401.4	+	12	1399	c.1060C>T	c.(1060-1062)Caa>Taa	p.Q354*	ARIH2_ENST00000449376.1_Nonsense_Mutation_p.Q354*|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	354					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GAACCAGAGCCAACAAGCCCA	0.498000													21	69					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25419986	25419986	+	RNA	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:25419986C>T	ENST00000549301.1	+	0	721				SNHG14_ENST00000441592.2_RNA																							tccctgacttccctcaacaCT	0.517000													48	112					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907232	164907232	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:164907232G>A	ENST00000475390.1	-	2	1830	c.1387C>T	c.(1387-1389)Ctt>Ttt	p.L463F	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L463F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	463						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGCCATTAAGGAAGAGGCTC	0.443000										HNSCC(40;0.11)			23	49					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180989	65180989	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:65180989G>A	ENST00000310045.7	-	2	2360	c.887C>T	c.(886-888)tCc>tTc	p.S296F	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	286						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTGTGTGACGGATTTAGCTGT	0.393000													37	84					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61511583	61511583	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:61511583C>T	ENST00000257215.5	+	20	2867	c.2751C>T	c.(2749-2751)atC>atT	p.I917I		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	917					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCGAGTTCATCGACAGCCTCT	0.667000													22	48					0	0	1	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75375609	75375609	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:75375609C>T	ENST00000555647.1	-	10	1674	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.E463K|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.E432K|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.E463K			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	463	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TCACAGGCTTCCGTCAGCTCG	0.582000													20	58					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11076096	11076096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:11076096C>T	ENST00000403050.3	+	9	2106	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	PHF14_ENST00000445996.2_Nonsense_Mutation_p.R267*	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	552							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGAACTAGCTCGATCTACCAG	0.433000													8	38					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739810	119739810	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:119739810C>A	ENST00000541757.1	+	12	1126	c.746C>A	c.(745-747)gCt>gAt	p.A249D	MARCO_ENST00000327097.4_Missense_Mutation_p.A327D			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	327	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCTGGCAGTGCTGGCTCCCCT	0.612000													17	81					1.15088e-07	1.16075e-07	1	1	0
HEPH	9843	broad.mit.edu	37	X	65486494	65486494	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:65486494C>T	ENST00000519389.1	+	21	3798	c.3619C>T	c.(3619-3621)Ctt>Ttt	p.L1207F	HEPH_ENST00000441993.2_Missense_Mutation_p.L1155F|HEPH_ENST00000336279.5_Missense_Mutation_p.L886F|HEPH_ENST00000343002.2_Missense_Mutation_p.L1153F|HEPH_ENST00000419594.1_Missense_Mutation_p.L964F|HEPH_ENST00000374727.3_Missense_Mutation_p.L1156F			Q9BQS7	HEPH_HUMAN	hephaestin	1153					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGCTTCAAGCTTCTGTCTTT	0.507000													17	25					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70551549	70551549	+	Missense_Mutation	SNP	G	G	A	rs149620212		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:70551549G>A	ENST00000323786.5	-	3	370	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	COG4_ENST00000393612.4_Missense_Mutation_p.R113C|COG4_ENST00000564653.1_Missense_Mutation_p.R117C	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	113	Interacts with STX5.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.R117C(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TCAAGCTGACGAACTTTGCTG	0.458000													29	62					0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120005756	120005756	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:120005756G>A	ENST00000354888.5	+	4	1498	c.994G>A	c.(994-996)Gac>Aac	p.D332N	STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.D332N|STEAP3_ENST00000393110.2_Missense_Mutation_p.D342N|STEAP3_ENST00000409811.1_Missense_Mutation_p.D332N|STEAP3_ENST00000393106.2_Missense_Mutation_p.D332N|STEAP3_ENST00000450943.2_Missense_Mutation_p.D332N|STEAP3_ENST00000393107.2_Missense_Mutation_p.D332N|STEAP3_ENST00000393108.2_Missense_Mutation_p.D332N	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	332	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CCACCGCTACGACCTGGTCAA	0.657000													13	48					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123270105	123270105	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:123270105C>T	ENST00000451558.1	+	13	2047	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	ASB15_ENST00000275699.3_Missense_Mutation_p.P509L|ASB15_ENST00000451215.1_Missense_Mutation_p.P509L|ASB15_ENST00000540573.1_Missense_Mutation_p.P509L|ASB15_ENST00000434204.1_Missense_Mutation_p.P509L			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	509					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GATTATGTTCCTCTGTGTGCT	0.378000													28	70					0	0	1	0	0
HSDL1	83693	broad.mit.edu	37	16	84163956	84163956	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:84163956C>T	ENST00000219439.4	-	4	477	c.301G>A	c.(301-303)Gag>Aag	p.E101K	HSDL1_ENST00000434463.3_Missense_Mutation_p.E101K	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	101						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						AACTTCTCCTCGTTCCGACTA	0.463000													53	135					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701378	56701378	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:56701378C>T	ENST00000586855.2	-	5	1619	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E436K			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	436					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AACGGCCTCTCCCCGGTGTGG	0.562000													13	48					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65165729	65165729	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:65165729C>T	ENST00000381210.3	-	8	847	c.737G>A	c.(736-738)gGa>gAa	p.G246E	TECRL_ENST00000507440.1_Missense_Mutation_p.G246E|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	246					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TTGCCTGTTTCCAAATGCTGG	0.299000													45	94					0	0	1	0	0
RPL18A	6142	broad.mit.edu	37	19	17972151	17972151	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:17972151A>C	ENST00000600147.1	+	2	104	c.68A>C	c.(67-69)cAc>cCc	p.H23P	RPL18A_ENST00000599870.1_5'UTR|RPL18A_ENST00000599898.1_Intron|RPL18A_ENST00000222247.5_Missense_Mutation_p.H23P			Q02543	RL18A_HUMAN	ribosomal protein L18a	23					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CCCAAATGCCACACGCCGCCC	0.547000													8	26					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704158	56704158	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:56704158C>T	ENST00000586855.2	-	2	577	c.264G>A	c.(262-264)gtG>gtA	p.V88V	ZSCAN5B_ENST00000358992.3_Silent_p.V88V			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	88	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACTGCTCCATCACCAGCATGT	0.562000													7	44					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153735242	153735242	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:153735242C>T	ENST00000456435.1	+	15	2123	c.937C>T	c.(937-939)Cat>Tat	p.H313Y	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Missense_Mutation_p.H519Y|INTS3_ENST00000512605.1_Missense_Mutation_p.H313Y|INTS3_ENST00000435409.2_Missense_Mutation_p.H519Y			Q68E01	INT3_HUMAN	integrator complex subunit 3	520					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GATGGACAACCATATGTCGGA	0.478000													11	55					0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119634983	119634983	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:119634983G>A	ENST00000264235.8	-	5	1498	c.516C>T	c.(514-516)atC>atT	p.I172I	GSK3B_ENST00000316626.5_Silent_p.I172I	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	172	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CAAAGGAATGGATATAGGCTA	0.358000													19	49					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106680961	106680961	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:106680961C>T	ENST00000526355.1	-	5	1918	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.E484K|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.E505K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	484					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCTCTTCTTCCAGGGCCTGG	0.433000													21	72					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896967	48896967	+	Missense_Mutation	SNP	G	G	A	rs148943401	byFrequency	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:48896967G>A	ENST00000394754.1	+	9	3311	c.3197G>A	c.(3196-3198)gGa>gAa	p.G1066E	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.G328E|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.G362E|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.G1066E|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.G1019E|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.G1066E|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.G1066E	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1019					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAGAAATAGGAAGTACAAGA	0.383000													29	102					0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5719637	5719637	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:5719637G>A	ENST00000379965.3	+	4	889	c.612G>A	c.(610-612)aaG>aaA	p.K204K	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	204					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGCTGCAAAAGCTGGAGGAAG	0.498000													19	55					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164760924	164760924	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:164760924C>T	ENST00000264382.3	-	17	1989	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	643	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAAAGTTCTTCTGTGGTTTCA	0.368000										HNSCC(35;0.089)			22	41					0	0	1	0	0
BRF2	55290	broad.mit.edu	37	8	37702335	37702335	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:37702335G>A	ENST00000220659.6	-	4	1053	c.933C>T	c.(931-933)gcC>gcT	p.A311A	BRF2_ENST00000520601.1_3'UTR|GPR124_ENST00000315215.7_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	311					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CATCCCGAAAGGCAGAGCGGA	0.582000													19	59					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203622097	203622097	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:203622097C>T	ENST00000303116.6	+	6	1276	c.534C>T	c.(532-534)tcC>tcT	p.S178S	FAM117B_ENST00000392238.2_Silent_p.S422S	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	422										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCACCATTTCCAATGAAGGTA	0.537000													29	52					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	615050	615050	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:615050C>A	ENST00000409413.3	+	3	1738	c.1459C>A	c.(1459-1461)Ccc>Acc	p.P487T		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	487										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GTGGGGGCGGCCCGAGCTGGG	0.721000													7	17					1.06961e-07	1.07982e-07	1	1	0
USP20	10868	broad.mit.edu	37	9	132637876	132637876	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:132637876G>A	ENST00000315480.4	+	21	2414	c.2256G>A	c.(2254-2256)ctG>ctA	p.L752L	USP20_ENST00000372429.3_Silent_p.L752L|USP20_ENST00000358355.1_Silent_p.L752L			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	752	DUSP 1.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TCGACGACCTGGTGGTCATCC	0.637000													34	54					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27147251	27147251	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:27147251G>A	ENST00000263182.3	+	8	1255	c.887G>A	c.(886-888)aGg>aAg	p.R296K	BBOX1_ENST00000529202.1_Missense_Mutation_p.R296K|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.R296K|BBOX1_ENST00000528583.1_Missense_Mutation_p.R296K	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	296					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	aacgcaactagggacacaata	0.343000													8	29					0	0	1	0	0
TAS2R14	50840	broad.mit.edu	37	12	11090894	11090894	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:11090894C>T	ENST00000537503.1	-	1	968	c.913G>A	c.(913-915)Ggg>Agg	p.G305R	TAS2R14_ENST00000381852.4_5'UTR|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	305					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						GAGGGCTCCCCATCTTTGAAC	0.363000													42	79					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666411	34666411	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:34666411G>A	ENST00000488417.1	+	3	1168	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R	C1orf94_ENST00000373374.3_Missense_Mutation_p.G160R	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	160							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AAAGGGTCAAGGGAGCCTCTT	0.592000													38	75					0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56125297	56125297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:56125297C>T	ENST00000416613.1	+	29	2998	c.2926C>T	c.(2926-2928)Caa>Taa	p.Q976*	KTN1_ENST00000395314.3_Nonsense_Mutation_p.Q976*|KTN1_ENST00000395308.1_Nonsense_Mutation_p.Q953*|KTN1_ENST00000438792.2_Nonsense_Mutation_p.Q976*|KTN1_ENST00000413890.2_Nonsense_Mutation_p.Q953*|KTN1_ENST00000395311.1_Nonsense_Mutation_p.Q953*|KTN1_ENST00000395309.3_Nonsense_Mutation_p.Q976*|KTN1_ENST00000554507.1_Nonsense_Mutation_p.Q271*			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	976					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GTTTAAGTCCCAAATTGAGCA	0.289000			T	RET	papillary thryoid								24	69					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80626597	80626597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:80626597G>A	ENST00000369816.4	-	6	973	c.673C>T	c.(673-675)Caa>Taa	p.Q225*		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	225					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	ACATGGAATTGAATCTGAAAA	0.418000													17	42					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52206085	52206085	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:52206085G>A	ENST00000282588.6	+	14	2151	c.1693G>A	c.(1693-1695)Gag>Aag	p.E565K		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	565					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAACAAAAATGAGCCATGCGG	0.443000													30	62					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160676315	160676315	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:160676315C>T	ENST00000263636.4	-	29	4102	c.4075G>A	c.(4075-4077)Gat>Aat	p.D1359N	LY75_ENST00000553424.1_Missense_Mutation_p.D1359N|LY75_ENST00000554112.1_Missense_Mutation_p.D1359N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D1359N|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D1359N	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GTTTGAATATCCCAGAAGCCG	0.353000													27	77					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282675	152282675	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:152282675C>T	ENST00000368799.1	-	3	4722	c.4687G>A	c.(4687-4689)Gaa>Aaa	p.E1563K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1563	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GTGGAAGGTTCATGGTGACGT	0.587000									Ichthyosis				128	315					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85106555	85106555	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:85106555G>A	ENST00000566428.1	+	4	1085	c.454G>A	c.(454-456)Gag>Aag	p.E152K	KIAA0513_ENST00000538274.1_Missense_Mutation_p.E152K|KIAA0513_ENST00000258180.3_Missense_Mutation_p.E152K|KIAA0513_ENST00000567328.1_Missense_Mutation_p.E152K			O60268	K0513_HUMAN	KIAA0513	152						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GTGTGTCTCAGAGGCAACCTT	0.547000													25	66					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068217	9068217	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:9068217G>A	ENST00000397910.4	-	3	19432	c.19229C>T	c.(19228-19230)tCc>tTc	p.S6410F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6412	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						GCCTTGGATGGATGTTCTGCT	0.488000													43	102					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20403340	20403340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:20403340C>T	ENST00000222573.3	+	2	892	c.208C>T	c.(208-210)Caa>Taa	p.Q70*	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	70					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ATGGTGTGTTCAAGAGGTGTG	0.428000													10	15					0	0	1	0	0
FAAH	2166	broad.mit.edu	37	1	46877286	46877286	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:46877286C>T	ENST00000243167.8	+	12	1403	c.1319C>T	c.(1318-1320)tCg>tTg	p.S440L		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	440					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CTGCCCAGTTCGGCTGGAAAA	0.597000													11	28					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183574952	183574952	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:183574952G>A	ENST00000511685.1	+	6	1140	c.1017G>A	c.(1015-1017)caG>caA	p.Q339Q	TENM3_ENST00000406950.2_Silent_p.Q339Q					teneurin transmembrane protein 3																		TCAACTGGCAGCTACAGCAGA	0.428000													16	20					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436323	248436323	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:248436323G>A	ENST00000318021.2	-	1	815	c.794C>T	c.(793-795)tCc>tTc	p.S265F		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGTTAGTGGACCTATGGGA	0.483000													10	285					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440365	40440365	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:40440365G>A	ENST00000319592.4	-	4	1255	c.546C>T	c.(544-546)atC>atT	p.I182I	RBM47_ENST00000295971.7_Silent_p.I182I|RBM47_ENST00000381795.6_Silent_p.I182I|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Silent_p.I182I|RBM47_ENST00000514014.1_Silent_p.I144I			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	182	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TGGCGTAGACGATCACGTCCA	0.632000													44	104					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8485953	8485953	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:8485953G>A	ENST00000381196.4	-	25	3407	c.2864C>T	c.(2863-2865)aCc>aTc	p.T955I	PTPRD_ENST00000356435.5_Missense_Mutation_p.T955I|PTPRD_ENST00000358503.5_Missense_Mutation_p.T933I|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.T955I|PTPRD_ENST00000360074.4_Missense_Mutation_p.T942I|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	955	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATAAAGAAGGGTATACTTGGT	0.478000										TSP Lung(15;0.13)			27	69					0	0	1	0	0
C11orf84	144097	broad.mit.edu	37	11	63585827	63585827	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:63585827C>T	ENST00000294244.4	+	3	896	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	199	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						TCCGCCCCCTCGAGCTTCCTG	0.597000													28	76					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174868954	174868954	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:174868954C>T	ENST00000393752.2	-	2	2141	c.1149G>A	c.(1147-1149)aaG>aaA	p.K383K		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	383					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GATTGCACTCCTTGGAGATGG	0.537000													33	84					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91774779	91774779	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:91774779C>T	ENST00000389857.6	-	17	3008	c.2922G>A	c.(2920-2922)atG>atA	p.M974I		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	974					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTTCTTCTTTCATGGCTAGTG	0.398000													36	70					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34262985	34262985	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:34262985C>T	ENST00000262622.3	+	4	1050	c.292C>T	c.(292-294)Ccg>Tcg	p.P98S	CHST8_ENST00000434302.1_Missense_Mutation_p.P98S|CHST8_ENST00000438847.2_Missense_Mutation_p.P98S	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	98					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCCTCAACCCCCGCTGCAGAG	0.667000													11	41					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101091804	101091804	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:101091804C>T	ENST00000361708.2	-	16	1442		c.e16-1		NXF5_ENST00000537026.1_Intron|NXF5_ENST00000473265.2_Intron			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5						mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						ACACCACCACCTGAGAGTTAC	0.498000													41	45					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98348912	98348912	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:98348912G>A	ENST00000370192.3	-	2	158	c.58C>T	c.(58-60)Cct>Tct	p.P20S	DPYD_ENST00000306031.5_Missense_Mutation_p.P20S|DPYD_ENST00000423006.2_Intron	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	20					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGTGTTCGAGGATTTAAAGCC	0.313000													13	52					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53555537	53555537	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:53555537G>A	ENST00000371494.4	-	9	1423	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	432						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	AGGTGAGCACGATGACCATGG	0.622000													28	82					0	0	1	0	0
C8orf4	56892	broad.mit.edu	37	8	40011145	40011145	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:40011145C>T	ENST00000315792.3	+	1	157	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C		NM_020130.4	NP_064515.1	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	32					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CACAGCCTCTCGTAAGAAAGC	0.502000													25	60					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193042716	193042716	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:193042716G>A	ENST00000342358.4	-	14	1728	c.1611C>T	c.(1609-1611)atC>atT	p.I537I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	537					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)		CATTGAGAAGGATCAGAGAGT	0.552000													60	156					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	76797204	76797204	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:76797204G>A	ENST00000538941.2	-	24	3151	c.2212C>T	c.(2212-2214)Cct>Tct	p.P738S	SCAPER_ENST00000563290.1_Missense_Mutation_p.P984S|SCAPER_ENST00000324767.7_Missense_Mutation_p.P984S	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	983	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ACTTACTTAGGAGGAATTCTT	0.378000													8	12					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043938	74043938	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:74043938C>T	ENST00000409561.1	+	3	2709	c.2588C>T	c.(2587-2589)cCt>cTt	p.P863L		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	863										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCCACTGTTCCTGAGCCAGTA	0.522000													25	57					0	0	1	0	0
SIRT3	23410	broad.mit.edu	37	11	233184	233184	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:233184G>A	ENST00000382743.4	-	3	607	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	SIRT3_ENST00000529382.1_Nonsense_Mutation_p.Q27*|SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000532956.1_Nonsense_Mutation_p.Q169*|SIRT3_ENST00000525319.1_Nonsense_Mutation_p.Q88*|SIRT3_ENST00000524564.1_Nonsense_Mutation_p.Q105*	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	169	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		TCGTACTGCTGGAGGTTGCTG	0.547000													22	55					0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58542880	58542880	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:58542880C>T	ENST00000394282.4	+	13	1307	c.900C>T	c.(898-900)tcC>tcT	p.S300S	NDRG4_ENST00000563799.1_Silent_p.S266S|NDRG4_ENST00000394279.2_Silent_p.S280S|NDRG4_ENST00000562999.1_Silent_p.S248S|NDRG4_ENST00000356752.4_Silent_p.S278S|NDRG4_ENST00000258187.5_Silent_p.S280S|NDRG4_ENST00000568640.1_Silent_p.S266S|NDRG4_ENST00000569923.1_Silent_p.S193S|NDRG4_ENST00000570248.1_Silent_p.S248S|NDRG4_ENST00000566192.1_Silent_p.S248S	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	248					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						AGTGCAACTCCAAACTGGACC	0.617000													9	26					0	0	1	0	0
LRRC37A5P	652972	broad.mit.edu	37	9	114371322	114371322	+	RNA	SNP	T	T	A	rs4978450	by1000genomes	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:114371322T>A	ENST00000374304.1	-	0	477																											TTTCTGTTCATTCTGGGCTTC	0.483000													4	34					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95186442	95186442	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:95186442G>A	ENST00000027335.3	-	6	595	c.471C>T	c.(469-471)gcC>gcT	p.A157A	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.A157A	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	157	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATTGGGAGTGGCCGGATCAT	0.418000													60	165					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54304614	54304614	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:54304614C>T	ENST00000324134.6	-	7	2791	c.2623G>A	c.(2623-2625)Gag>Aag	p.E875K	NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000345770.5_Missense_Mutation_p.E876K|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Missense_Mutation_p.E875K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E875K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E876K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	875					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.E875*(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAGGCCAGCTCGTCACAGGCA	0.527000													12	30					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832468	130832468	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:130832468G>A	ENST00000357462.5	-	15	2670	c.2577C>T	c.(2575-2577)gtC>gtT	p.V859V	POTEF_ENST00000409914.2_Silent_p.V859V			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	859	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAGTGTGGGTGACCCCGTCAC	0.612000													26	62					0	0	1	0	0
E2F6	1876	broad.mit.edu	37	2	11593908	11593908	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:11593908C>T	ENST00000381525.3	-	3	449	c.180G>A	c.(178-180)aaG>aaA	p.K60K	E2F6_ENST00000362009.4_Silent_p.K60K|E2F6_ENST00000307236.4_Silent_p.K28K|E2F6_ENST00000542100.1_5'UTR|E2F6_ENST00000546212.1_5'UTR	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	60					negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		AACGAGGTCTCTTCACTTTTA	0.328000													20	32					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103787	53103787	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:53103787C>T	ENST00000408890.4	+	1	439	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	141										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCATCGGGATCGCGCCCCCTG	0.716000													17	40					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113673986	113673986	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:113673986G>A	ENST00000003302.4	-	23	2824	c.2756C>T	c.(2755-2757)tCc>tTc	p.S919F	USP28_ENST00000544967.1_Missense_Mutation_p.S595F|USP28_ENST00000260188.5_Missense_Mutation_p.S887F|USP28_ENST00000545540.1_Missense_Mutation_p.S762F	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	919					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TACCAGGTAGGAAAGTGCCTC	0.473000													21	78					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158157376	158157376	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:158157376C>T	ENST00000259056.4	+	7	2789	c.2304C>T	c.(2302-2304)atC>atT	p.I768I	GALNT5_ENST00000463418.1_3'UTR	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	768					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ACCACCTCATCGACCAAGGGC	0.517000													6	51					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43021879	43021879	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:43021879G>A	ENST00000428554.2	+	12	1621	c.478G>A	c.(478-480)Gag>Aag	p.E160K	CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.E160K|CCDC30_ENST00000340612.4_Missense_Mutation_p.E160K			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	160										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GTCAGTAAAGGAGGGCAGTTT	0.393000													8	52					0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052324	44052324	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:44052324G>A	ENST00000306006.6	-	2	1856	c.1204C>T	c.(1204-1206)Ccc>Tcc	p.P402S	ZNF239_ENST00000535642.1_Missense_Mutation_p.P402S|ZNF239_ENST00000374446.2_Missense_Mutation_p.P402S|ZNF239_ENST00000426961.1_Missense_Mutation_p.P402S	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CAGTGATAGGGCTTCTCTCCA	0.517000													23	56					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37680975	37680975	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:37680975G>A	ENST00000532828.2	-	3	401	c.150C>T	c.(148-150)aaC>aaT	p.N50N	ZNF585B_ENST00000586320.1_Silent_p.N35N|ZNF585B_ENST00000531805.1_5'UTR|ZNF585B_ENST00000527838.1_Silent_p.N50N|CTC-454I21.3_ENST00000585860.2_Silent_p.N50N	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCGGTACAGGTTTCTCTGAG	0.517000													22	71					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980841	40980841	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:40980841T>A	ENST00000373198.3	-	10	1880	c.1645A>T	c.(1645-1647)Acc>Tcc	p.T549S	PTPRT_ENST00000373187.1_Missense_Mutation_p.T549S|PTPRT_ENST00000373201.1_Missense_Mutation_p.T549S|PTPRT_ENST00000373190.1_Missense_Mutation_p.T549S|PTPRT_ENST00000373193.3_Missense_Mutation_p.T549S|PTPRT_ENST00000373184.1_Missense_Mutation_p.T549S|PTPRT_ENST00000356100.2_Missense_Mutation_p.T549S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	549	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGTGGTGGGTTTCATTCCGG	0.572000													31	70					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45367134	45367134	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:45367134C>T	ENST00000559488.1	+	7	1043	c.1027C>T	c.(1027-1029)Ctc>Ttc	p.L343F	ITGB3_ENST00000435993.2_Missense_Mutation_p.L296F|ITGB3_ENST00000560629.1_Missense_Mutation_p.S331F|ITGB3_ENST00000571680.1_Missense_Mutation_p.L343F	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	343	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.L343I(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TGTAGTCAATCTCTATCAGGT	0.488000													22	63					0	0	1	0	0
GLT1D1	144423	broad.mit.edu	37	12	129373189	129373189	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:129373189C>T	ENST00000442111.2	+	3	311	c.223C>T	c.(223-225)Cga>Tga	p.R75*	GLT1D1_ENST00000281703.6_Nonsense_Mutation_p.R75*|GLT1D1_ENST00000537468.1_Nonsense_Mutation_p.R64*|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	75					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	p.R75*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TGCAGGCCACCGAATCCCTTT	0.458000													4	30					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196799380	196799380	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:196799380C>T	ENST00000312428.6	-	21	3506	c.3406G>A	c.(3406-3408)Gcc>Acc	p.A1136T		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1136	Stem (By similarity).				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						TGACCTCTGGCTTTGGCTGTT	0.383000													45	124					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1262911	1262911	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:1262911G>A	ENST00000381312.1	-	7	1987	c.1662C>T	c.(1660-1662)tcC>tcT	p.S554S	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	554	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TGTCCGTGCAGGACATGGTGA	0.682000													6	18					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541830	55541830	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:55541830G>A	ENST00000220676.1	+	4	5536	c.5388G>A	c.(5386-5388)acG>acA	p.T1796T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1796					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.T1796T(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGGCCCAACGATGGATGAAC	0.448000													21	36					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7875857	7875857	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:7875857C>T	ENST00000378789.3	-	5	787	c.736G>A	c.(736-738)Gag>Aag	p.E246K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	246	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTAACAGCCTCCCTGGCATCA	0.502000													39	82					0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47269705	47269705	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:47269705G>A	ENST00000377073.3	+	2	189	c.103G>A	c.(103-105)Gat>Aat	p.D35N		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	35	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGTGGCTGTGGATTTCACCCG	0.498000													31	54					0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026400	182026400	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:182026400G>A	ENST00000339948.3	-	2	953	c.746C>T	c.(745-747)cCc>cTc	p.P249L		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCACCTGTAGGGACGCGCCTC	0.736000													7	10					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245514	166245514	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:166245514C>T	ENST00000375437.2	+	27	5488	c.5198C>T	c.(5197-5199)cCt>cTt	p.P1733L	SCN2A_ENST00000283256.6_Missense_Mutation_p.P1733L|SCN2A_ENST00000357398.3_Missense_Mutation_p.P1733L|SCN2A_ENST00000375427.2_Missense_Mutation_p.P1733L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1733					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GACTGTGACCCTGACAAAGAT	0.453000													75	241					0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145914535	145914535	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:145914535C>T	ENST00000354952.2	-	7	910	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	PLSCR4_ENST00000446574.2_Missense_Mutation_p.E224K|PLSCR4_ENST00000383083.2_Missense_Mutation_p.E134K|PLSCR4_ENST00000433593.2_Missense_Mutation_p.E119K|PLSCR4_ENST00000493382.1_Missense_Mutation_p.E224K	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	224					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TTCCAATGTTCCGCAACAAAG	0.478000													25	43					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110790861	110790861	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:110790861C>A	ENST00000327908.3	+	4	1171	c.407C>A	c.(406-408)tCt>tAt	p.S136Y	LRIT3_ENST00000594814.1_Missense_Mutation_p.S319Y|LRIT3_ENST00000409621.2_Missense_Mutation_p.S136Y|LRIT3_ENST00000379920.3_Missense_Mutation_p.S274Y			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	274						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ACAGGCATTTCTTCCAAAGAC	0.433000													46	108					5.34276e-22	5.46676e-22	1	1	0
TFF1	7031	broad.mit.edu	37	21	43783428	43783428	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:43783428G>A	ENST00000291527.2	-	2	272	c.174C>T	c.(172-174)ttC>ttT	p.F58F		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	58	P-type.				carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						CGGTGTCGTCGAAACAGCAGC	0.517000													20	54					0	0	1	0	0
IFT57	55081	broad.mit.edu	37	3	107885815	107885815	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:107885815G>A	ENST00000264538.3	-	8	1114	c.867C>T	c.(865-867)ctC>ctT	p.L289L	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	289					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TTTCATTATGGAGTTTGTCCA	0.338000													8	41					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18321953	18321953	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:18321953G>A	ENST00000355502.3	-	19	2796	c.1925C>T	c.(1924-1926)cCc>cTc	p.P642L	PDE4C_ENST00000594617.2_Missense_Mutation_p.P642L|PDE4C_ENST00000447275.2_Missense_Mutation_p.P536L|PDE4C_ENST00000594465.2_Missense_Mutation_p.P642L|PDE4C_ENST00000539010.1_Missense_Mutation_p.P411L|PDE4C_ENST00000262805.11_Missense_Mutation_p.P610L|AC068499.10_ENST00000594805.2_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	642					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GAGGTCTGAGGGACTTCGGGG	0.592000													23	88					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36698091	36698091	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:36698091C>T	ENST00000399881.3	+	15	1666	c.1629C>T	c.(1627-1629)gcC>gcT	p.A543A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	543	Segment S8.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTGAAGTTGCCCGGTAAGTGA	0.428000													7	27					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79852917	79852917	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:79852917G>A	ENST00000360280.3	+	18	1855		c.e18-1		VPS13A_ENST00000376636.3_Splice_Site|VPS13A_ENST00000376634.4_Splice_Site|VPS13A_ENST00000357409.5_Splice_Site	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)						Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTTAATGCAGATTTGAAACT	0.289000													19	20					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1013972	1013972	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:1013972C>T	ENST00000421673.2	-	32	7119	c.7069G>A	c.(7069-7071)Gag>Aag	p.E2357K		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2357	CTCK.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AACGTGATCTCCTCCTGCTGC	0.662000													4	5					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38774977	38774977	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:38774977C>T	ENST00000308973.4	-	4	2840	c.2235G>A	c.(2233-2235)ctG>ctA	p.L745L	TLR10_ENST00000508334.1_Silent_p.L745L|TLR10_ENST00000361424.2_Silent_p.L745L|TLR10_ENST00000506111.1_Silent_p.L745L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	745	TIR.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GGAGAGCTTTCAGTTTATGAT	0.403000													36	83					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579069	44579069	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:44579069G>A	ENST00000289547.4	-	2	982	c.927C>T	c.(925-927)ccC>ccT	p.P309P	NPC1L1_ENST00000546276.1_Silent_p.P309P|NPC1L1_ENST00000423141.1_Silent_p.P309P|NPC1L1_ENST00000381160.3_Silent_p.P309P	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	309					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGTCCCTGGCGGGGGCCACAC	0.597000													37	92					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65346915	65346915	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:65346915C>G	ENST00000330909.8	-	23	3676	c.3677G>C	c.(3676-3678)cGt>cCt	p.R1226P	MAGI1_ENST00000402939.2_Missense_Mutation_p.R1198P|MAGI1_ENST00000497477.2_Missense_Mutation_p.R1131P|MAGI1_ENST00000483466.1_Missense_Mutation_p.R1227P	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1227					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CAGAAACAGACGAACTCTGCG	0.443000													22	73					0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984870	41984870	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:41984870C>T	ENST00000333141.5	+	1	1158	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	354										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						ACCATCCCTTCCCCGTACTCT	0.637000													19	62					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64949039	64949039	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:64949039T>G	ENST00000399262.2	-	18	6677	c.6459A>C	c.(6457-6459)ttA>ttC	p.L2153F	JMJD1C_ENST00000542921.1_Missense_Mutation_p.L1971F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.L1916F|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2153					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TATCACTGTATAATTTATTAT	0.323000													41	65					0	0	1	0	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139086975	139086975	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:139086975T>A	ENST00000354926.4	+	4	702	c.348T>A	c.(346-348)agT>agA	p.S116R	LUC7L2_ENST00000541515.3_Missense_Mutation_p.S182R|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.S115R|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.S113R	NM_016019.3	NP_057103.2																					AAGAGATTAGTGCTGAAGTAG	0.328000													8	27					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3255043	3255043	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:3255043A>C	ENST00000304646.2	+	1	797	c.797A>C	c.(796-798)cAc>cCc	p.H266P	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CTGTCCTCCCACTCAGCTGAG	0.488000													56	123					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41330674	41330674	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:41330674C>G	ENST00000551295.2	+	10	1194	c.1077C>G	c.(1075-1077)atC>atG	p.I359M	CNTN1_ENST00000547702.1_Missense_Mutation_p.I359M|CNTN1_ENST00000360099.3_Missense_Mutation_p.I359M|CNTN1_ENST00000348761.2_Missense_Mutation_p.I348M|CNTN1_ENST00000547849.1_Missense_Mutation_p.I359M|CNTN1_ENST00000347616.1_Missense_Mutation_p.I359M	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	359	Ig-like C2-type 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAAAGCCCATCCCTACAATCC	0.478000													43	117					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150713833	150713833	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:150713833G>A	ENST00000377974.2	-	11	2438	c.2363C>T	c.(2362-2364)cCa>cTa	p.P788L	ATG9B_ENST00000444312.1_Missense_Mutation_p.P274L|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_3'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	789					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCGCAGCTGGACAGGGGGC	0.647000													7	24					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	617491	617491	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:617491C>T	ENST00000358353.3	-	16	2720	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K	CDHR5_ENST00000397542.2_Missense_Mutation_p.E800K|CDHR5_ENST00000349570.7_Missense_Mutation_p.E606K			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	800					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ACGTCTGCCTCCGTCCCGATG	0.711000													15	41					0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220284878	220284878	+	Splice_Site	SNP	G	G	A	rs59188358		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:220284878G>A	ENST00000373960.3	+	2	725		c.e2+1			NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin						cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTTCCGAGCGGTGAGTGCCCT	0.587000													21	59					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42279460	42279460	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:42279460G>A	ENST00000399518.3	-	17	2431	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.R620W	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	637	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		ACGAAGGACCGATGGGTAAGG	0.517000													20	42					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162508677	162508677	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:162508677G>A	ENST00000306100.5	-	8	1381	c.945C>T	c.(943-945)caC>caT	p.H315H	FSTL5_ENST00000536695.1_Silent_p.H314H|FSTL5_ENST00000379164.4_Silent_p.H314H|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Silent_p.H314H	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	315	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATTGCCAACGTGAGTTGTGG	0.343000													25	74					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56435408	56435408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:56435408G>A	ENST00000584437.1	-	8	3684	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*	RNF43_ENST00000407977.2_Nonsense_Mutation_p.Q577*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.Q536*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Nonsense_Mutation_p.Q450*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.Q450*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.Q577*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.Q536*			Q68DV7	RNF43_HUMAN	ring finger protein 43	577	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCCTGGACTGGGGGACTCCG	0.622000													31	105					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11666900	11666900	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:11666900G>T	ENST00000262442.3	+	36	7207	c.7139G>T	c.(7138-7140)tGg>tTg	p.W2380L	DNAH9_ENST00000454412.2_Missense_Mutation_p.W2380L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2380					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTGCCATCTGGGCTTTCGGC	0.468000													21	41					1.96292e-10	1.98544e-10	1	1	0
PROM2	150696	broad.mit.edu	37	2	95944469	95944469	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:95944469G>A	ENST00000317620.9	+	9	1184	c.1050_splice	c.e9-1	p.E351_splice	PROM2_ENST00000317668.4_Splice_Site_p.E351_splice|PROM2_ENST00000542147.1_Splice_Site_p.E351_splice|PROM2_ENST00000403131.2_Splice_Site_p.E351_splice	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	351						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GTTCCTGCAGGAGAACAGCAC	0.632000													18	68					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7494450	7494450	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:7494450G>A	ENST00000486284.1	+	6	1605	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	GRM7_ENST00000403881.1_Missense_Mutation_p.G444E|GRM7_ENST00000389336.4_Missense_Mutation_p.G444E|GRM7_ENST00000357716.4_Missense_Mutation_p.G444E|GRM7_ENST00000402647.2_Missense_Mutation_p.G444E|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	444					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GAGCAAGCTGGAGGCAAGAAG	0.463000													6	33					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91405830	91405830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:91405830G>A	ENST00000370440.1	-	3	1298	c.1081C>T	c.(1081-1083)Caa>Taa	p.Q361*	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.Q361*|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATTAGATGTTGGAAGGCATCC	0.358000													52	147					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188783	98188783	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:98188783C>T	ENST00000332650.5	+	1	460	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGCCTATGACCGCTATGTGG	0.463000													68	173					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245442	46245442	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:46245442A>T	ENST00000334344.6	+	15	3708	c.3536A>T	c.(3535-3537)aAt>aTt	p.N1179I	ARID2_ENST00000422737.1_Missense_Mutation_p.N1030I|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.N789I	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1179					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTTGTGCCAAATACGAGTTTT	0.473000			"""N, S, F"""		hepatocellular carcinoma								32	90					0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165802230	165802230	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:165802230G>A	ENST00000303735.4	-	3	399	c.69C>T	c.(67-69)tcC>tcT	p.S23S	SLC38A11_ENST00000409662.1_Silent_p.S23S|SLC38A11_ENST00000409149.3_Silent_p.S23S|SLC38A11_ENST00000409058.1_Silent_p.S54S	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	23					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ATAAAACAAGGGAAAAGTCTG	0.368000													17	81					0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157067777	157067777	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:157067777G>A	ENST00000454449.2	-	4	774	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	164						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				ATGCTGTGCAGGAGCTGAGGG	0.557000													19	55					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238576	57238576	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:57238576C>T	ENST00000537866.1	+	2	879	c.6C>T	c.(4-6)atC>atT	p.I2I	RSPRY1_ENST00000394420.4_Silent_p.I2I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	2						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCTAAATGATCGTCTTTGGTT	0.448000													86	198					0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68788312	68788312	+	Missense_Mutation	SNP	G	G	A	rs138970524		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:68788312G>A	ENST00000295569.7	-	5	817	c.325C>T	c.(325-327)Ccg>Tcg	p.P109S		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	109						extracellular region		p.P109S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TCCAAACACGGATTCATGTGA	0.408000													37	106					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155823531	155823531	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:155823531G>A	ENST00000437809.1	-	2	163	c.41C>T	c.(40-42)tCc>tTc	p.S14F	GON4L_ENST00000368331.1_Missense_Mutation_p.S14F|GON4L_ENST00000361040.5_Missense_Mutation_p.S14F|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.S14F			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	14					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATGCTGTAGGGACTCTGTCAC	0.398000													16	67					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754805	54754805	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:54754805G>A	ENST00000450632.1	-	13	1907	c.1830C>T	c.(1828-1830)ccC>ccT	p.P610P	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	0					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCTGCAGCGGGGGAGAGTGA	0.622000													16	48					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332276	100332276	+	RNA	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:100332276G>A	ENST00000341853.1	-	0	1915					NR_003260.1																						GTCTGTGAGTGGGGAGACCCA	0.662000													19	71					0	0	1	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140866808	140866808	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:140866808A>G	ENST00000306593.1	+	1	2068	c.2068A>G	c.(2068-2070)Acc>Gcc	p.T690A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTCGTCTAACCCTCTACTT	0.493000													38	95					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203743	140203743	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:140203743C>T	ENST00000378126.3	+	1	2383	c.2383C>T	c.(2383-2385)Ccc>Tcc	p.P795S	PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031501.1	NP_113689.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCATCTTTCCCTCCCAATT	0.378000													11	33					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881535	228881535	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:228881535C>T	ENST00000392056.3	-	7	4081	c.4035G>A	c.(4033-4035)gaG>gaA	p.E1345E	SPHKAP_ENST00000344657.5_Silent_p.E1345E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1345						cytoplasm	protein binding	p.E1345D(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGCACACTTCTCTGCTTGCG	0.512000													22	82					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21501012	21501012	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:21501012C>T	ENST00000313654.9	+	61	8278	c.8037C>T	c.(8035-8037)gaC>gaT	p.D2679D	LAMA3_ENST00000399516.3_Silent_p.D2623D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.D1014D|LAMA3_ENST00000269217.6_Silent_p.D1070D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2679	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGGCAGAGACCATTCGGTAC	0.383000													14	46					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31552616	31552616	+	Silent	SNP	T	T	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:31552616T>G	ENST00000389082.5	-	16	3304	c.3040A>C	c.(3040-3042)Aga>Cga	p.R1014R	DENND5B_ENST00000306833.6_Silent_p.R1049R|DENND5B_ENST00000536562.1_Silent_p.R1049R	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1014	PLAT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATTTCATTTCTGACCATGACA	0.418000													7	31					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31935611	31935611	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:31935611C>T	ENST00000375394.2	+	22	2816	c.2703C>T	c.(2701-2703)ctC>ctT	p.L901L	SKIV2L_ENST00000544581.1_Silent_p.L708L	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	901						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CAGATGACCTCGTGGGATTCA	0.557000													40	81					0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112926922	112926922	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:112926922C>T	ENST00000351677.2	+	13	1740	c.1542C>T	c.(1540-1542)atC>atT	p.I514I		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	518	Tyrosine-protein phosphatase.		Q -> P (in LEOPARD1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ACCGATTTATCTATATGGCGG	0.498000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				68	170					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033958	52033958	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:52033958C>T	ENST00000346477.3	-	3	751	c.683G>A	c.(682-684)aGa>aAa	p.R228K	SIGLEC6_ENST00000391797.3_Missense_Mutation_p.R217K|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.R228K|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.R228K|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.R192K|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.R228K	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	228	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CTGGATGGTTCTCTCCATGGT	0.632000													38	84					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66932940	66932940	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:66932940G>A	ENST00000359742.4	-	4	576	c.336C>T	c.(334-336)ttC>ttT	p.F112F	GRIP1_ENST00000398016.3_Silent_p.F112F|GRIP1_ENST00000286445.7_Silent_p.F112F			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	112	PDZ 1.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CGTCATGGCGGAATTTGGCCA	0.483000													41	111					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34543105	34543105	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:34543105A>C	ENST00000354181.3	-	11	1979	c.1487T>G	c.(1486-1488)gTt>gGt	p.V496G	SLC12A6_ENST00000560611.1_Missense_Mutation_p.V496G|SLC12A6_ENST00000451844.2_Missense_Mutation_p.V308G|SLC12A6_ENST00000558589.1_Missense_Mutation_p.V487G|SLC12A6_ENST00000458406.2_Missense_Mutation_p.V437G|SLC12A6_ENST00000397702.2_Missense_Mutation_p.V437G|SLC12A6_ENST00000397707.2_Missense_Mutation_p.V481G|SLC12A6_ENST00000290209.5_Missense_Mutation_p.V445G|SLC12A6_ENST00000560164.1_Missense_Mutation_p.V308G|SLC12A6_ENST00000558667.1_Missense_Mutation_p.V496G			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	496					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TTTACCTGTAACAGAGGGAAA	0.433000													18	58					0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60704807	60704807	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:60704807G>A	ENST00000227880.3	-	8	1863	c.1630C>T	c.(1630-1632)Ctg>Ttg	p.L544L		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	544					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CCAGCCAGCAGGAAGAAGTAG	0.592000													33	56					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108011981	108011981	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:108011981G>A	ENST00000280758.5	+	10	2806	c.2278G>A	c.(2278-2280)Gat>Aat	p.D760N	BTBD11_ENST00000357167.4_Missense_Mutation_p.D297N|BTBD11_ENST00000490090.2_Missense_Mutation_p.D760N|BTBD11_ENST00000420571.2_Intron	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	760						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGAGAAGAGTGATATCCTGTC	0.577000													15	67					0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49825110	49825110	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:49825110C>T	ENST00000335847.4	-	2	105	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	CRISP1_ENST00000355791.2_Missense_Mutation_p.E2K|CRISP1_ENST00000505118.1_Missense_Mutation_p.E2K|CRISP1_ENST00000329411.5_Missense_Mutation_p.E2K|CRISP1_ENST00000536021.1_Missense_Mutation_p.E2K|CRISP1_ENST00000507853.1_Missense_Mutation_p.E2K	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	2					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TGTTTAATTTCCATCCCTGAA	0.323000													12	43					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764222	77764222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:77764222C>T	ENST00000521891.2	+	10	5513	c.5065C>T	c.(5065-5067)Cag>Tag	p.Q1689*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Q1644*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Q1644*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Q1663*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1644	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q1689E(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCACCCACCACAGTCACCAGC	0.418000										HNSCC(33;0.089)			30	88					0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1421570	1421570	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:1421570C>T	ENST00000308647.7	+	10	1160	c.1044C>T	c.(1042-1044)atC>atT	p.I348I		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	348							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACAGGCACATCCTGCTGTATG	0.657000													32	34					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56814369	56814369	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:56814369G>A	ENST00000229201.4	-	26	3363	c.3209C>T	c.(3208-3210)cCc>cTc	p.P1070L	TIMELESS_ENST00000554616.1_Missense_Mutation_p.P568L|TIMELESS_ENST00000553532.1_Missense_Mutation_p.P1071L	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1071					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGAGGCAGGGGGCCGAACCCC	0.522000													28	87					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7494457	7494457	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:7494457G>A	ENST00000486284.1	+	6	1612	c.1338G>A	c.(1336-1338)aaG>aaA	p.K446K	GRM7_ENST00000403881.1_Silent_p.K446K|GRM7_ENST00000389336.4_Silent_p.K446K|GRM7_ENST00000357716.4_Silent_p.K446K|GRM7_ENST00000402647.2_Silent_p.K446K|GRM7_ENST00000458641.2_3'UTR	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	446					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTGGAGGCAAGAAGTTGCTGA	0.453000													13	25					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013438	99013438	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:99013438G>A	ENST00000393504.1	+	8	2222	c.1805G>A	c.(1804-1806)gGa>gAa	p.G602E	CNGA3_ENST00000436404.2_Missense_Mutation_p.G584E|CNGA3_ENST00000409937.1_Missense_Mutation_p.G606E|CNGA3_ENST00000272602.2_Missense_Mutation_p.G602E	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	602					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GAGGAGAAAGGACGGCAGATC	0.602000													20	48					0	0	1	0	0
GDF11	10220	broad.mit.edu	37	12	56137491	56137491	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:56137491G>A	ENST00000257868.5	+	1	428	c.391G>A	c.(391-393)Gag>Aag	p.E131K		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	131					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGACTTCCTGGAGGAGGACGA	0.677000													12	31					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413826	61413826	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:61413826C>T	ENST00000395348.3	-	5	1594	c.958G>A	c.(958-960)Ggg>Agg	p.G320R	SLC16A9_ENST00000395347.1_Missense_Mutation_p.G320R	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	320					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GGTGGAAACCCTCCGATGTCA	0.353000													26	57					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47886647	47886647	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:47886647G>A	ENST00000289672.2	-	32	5033	c.4983C>T	c.(4981-4983)tcC>tcT	p.S1661S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1661					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATCCAATAAGGATAAATAGC	0.393000													15	19					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15376339	15376339	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:15376339G>A	ENST00000263377.2	-	5	896	c.675C>T	c.(673-675)ttC>ttT	p.F225F	BRD4_ENST00000371835.4_Silent_p.F225F|BRD4_ENST00000360016.5_Silent_p.F225F	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	225					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGACGGCAGGGAAGGGGTGAG	0.657000			T	C15orf55	lethal midline carcinoma of young people								57	140					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3643120	3643120	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:3643120T>A	ENST00000263087.4	-	20	2599	c.2501A>T	c.(2500-2502)cAg>cTg	p.Q834L		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	834					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GGTGGCCAACTGTAATTCTGC	0.532000													24	74					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586312	169586312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:169586312C>T	ENST00000263686.6	-	3	472	c.435G>A	c.(433-435)tgG>tgA	p.W145*	SELP_ENST00000367791.2_Nonsense_Mutation_p.W145*|SELP_ENST00000367786.2_Nonsense_Mutation_p.W145*|SELP_ENST00000367794.2_Nonsense_Mutation_p.W145*|SELP_ENST00000367793.2_Nonsense_Mutation_p.W145*|SELP_ENST00000458599.2_Nonsense_Mutation_p.W145*|SELP_ENST00000367792.2_Nonsense_Mutation_p.W145*|SELP_ENST00000367788.2_Nonsense_Mutation_p.W145*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	145	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GCTCATCATTCCACTTGCCAG	0.448000													53	135					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37692835	37692835	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:37692835C>T	ENST00000412232.2	+	12	1765	c.1752C>T	c.(1750-1752)ccC>ccT	p.P584P	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	584					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CACCTGAGCCCGAGCCCCCAG	0.682000													15	30					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31099465	31099465	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:31099465C>T	ENST00000597505.1	-	16	2244	c.2245G>A	c.(2245-2247)Gga>Aga	p.G749R	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GAGTCATCTCCACTATGTCTG	0.353000													13	20					0	0	1	0	0
SUMF1	285362	broad.mit.edu	37	3	4461818	4461818	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:4461818G>A	ENST00000272902.5	-	4	567	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000534863.1_Missense_Mutation_p.P178S|SUMF1_ENST00000405420.2_Missense_Mutation_p.P178S|SUMF1_ENST00000383843.5_Missense_Mutation_p.P153S	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	178						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		AACCACCAGGGAGCAGCTGCA	0.483000													12	52					0	0	1	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374490	95374490	+	RNA	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:95374490C>T	ENST00000494840.1	-	0	1371					NR_077228.1																						ATCTAATTATCTAATTATCAA	0.383000													11	34					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190365	32190365	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:32190365G>A	ENST00000375023.3	-	3	512	c.374C>T	c.(373-375)tCc>tTc	p.S125F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	125	EGF-like 3.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAACAGAAGGAGGGAGGACA	0.617000													26	82					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63669730	63669730	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:63669730G>T	ENST00000402010.2	+	12	1741	c.1162G>T	c.(1162-1164)Gcc>Tcc	p.A388S	MARK2_ENST00000361128.5_Missense_Mutation_p.A388S|MARK2_ENST00000377809.4_Missense_Mutation_p.A388S|MARK2_ENST00000513765.2_Missense_Mutation_p.A355S|MARK2_ENST00000502399.3_Missense_Mutation_p.A388S|MARK2_ENST00000315032.8_Missense_Mutation_p.A388S|MARK2_ENST00000350490.7_Missense_Mutation_p.A388S|MARK2_ENST00000408948.3_Missense_Mutation_p.A355S|MARK2_ENST00000413835.2_Missense_Mutation_p.A388S|MARK2_ENST00000377810.3_Missense_Mutation_p.A355S|MARK2_ENST00000509502.2_Missense_Mutation_p.A355S|MARK2_ENST00000508192.1_Missense_Mutation_p.A388S|MARK2_ENST00000425897.2_Missense_Mutation_p.A355S	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	388					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CAATAGCAGCGCCCCATCCCC	0.572000											OREG0021038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	74					1.64293e-13	1.67137e-13	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228855733	228855733	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:228855733C>T	ENST00000392056.3	-	11	4988	c.4942G>A	c.(4942-4944)Gaa>Aaa	p.E1648K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1619K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1648						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATTCTGTTTTCCTGAGATTTC	0.463000													11	57					0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457349	124457349	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:124457349G>A	ENST00000329446.4	-	3	939	c.908C>T	c.(907-909)tCa>tTa	p.S303L		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	303										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTCTCTCCGTGATATAAAATC	0.428000													33	98					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		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)			TGGCAGCACATAGACTGGCAG	0.662000													4	72					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148865249	148865249	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:148865249C>T	ENST00000367467.3	+	18	3118	c.2643C>T	c.(2641-2643)ccC>ccT	p.P881P		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	881							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGGCCCAGCCCCTGGAGCAAG	0.532000													42	202					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2894668	2894668	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:2894668G>A	ENST00000254695.8	+	12	981	c.891G>A	c.(889-891)acG>acA	p.T297T	RAP1GAP2_ENST00000366401.4_Silent_p.T282T|RAP1GAP2_ENST00000542807.1_Silent_p.T297T|RAP1GAP2_ENST00000540393.2_Silent_p.T278T	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	297	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TGGGGGACACGATCACACTGC	0.522000													6	8					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751766	247751766	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:247751766G>A	ENST00000320065.1	+	1	105	c.105G>A	c.(103-105)ttG>ttA	p.L35L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGCTCATATTGATTCTGTATT	0.398000													79	145					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062392	9062392	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:9062392C>T	ENST00000397910.4	-	3	25257	c.25054G>A	c.(25054-25056)Gca>Aca	p.A8352T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8354	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						TTGGTCACTGCTGTGTGTGTG	0.483000													32	122					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128696421	128696421	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:128696421C>T	ENST00000371113.4	+	11	1165	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	OCRL_ENST00000357121.5_Nonsense_Mutation_p.R334*	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	334					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	p.R334*(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GGATCAGTGTCGATACATTCG	0.393000													51	79					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27778021	27778021	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:27778021T>A	ENST00000333743.6	+	10	1652	c.1398T>A	c.(1396-1398)taT>taA	p.Y466*	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	466					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GATACCTGTATCTCTAAGTGT	0.493000													14	29					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65908912	65908912	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:65908912C>T	ENST00000321892.4	+	13	5351	c.5290C>T	c.(5290-5292)Ccc>Tcc	p.P1764S	BPTF_ENST00000424123.3_Missense_Mutation_p.P1625S|BPTF_ENST00000335221.5_Missense_Mutation_p.P1764S|BPTF_ENST00000306378.6_Missense_Mutation_p.P1638S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1764	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCTTTCCACACCCTCCACAGG	0.512000													22	56					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92174530	92174530	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:92174530G>A	ENST00000256343.3	-	6	577	c.421C>T	c.(421-423)Cta>Tta	p.L141L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	141					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TAAATATTTAGTCCATGATGT	0.303000													20	46					0	0	1	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67432757	67432757	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:67432757G>A	ENST00000348579.2	-	6	962	c.621C>T	c.(619-621)aaC>aaT	p.N207N		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	207						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GACGCATGGGGTTGACAAAGA	0.592000													3	24					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56085954	56085954	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:56085954C>T	ENST00000312711.1	+	1	172	c.172C>T	c.(172-174)Cct>Tct	p.P58S		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GTTGCAAACCCCTATGTACTT	0.403000													39	143					0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154296092	154296092	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:154296092G>A	ENST00000484864.1	+	5	553	c.517G>A	c.(517-519)Ggg>Agg	p.G173R	AQP10_ENST00000324978.3_Missense_Mutation_p.G173R|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	173					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGATTGTGGGGCTCTTGGC	0.597000													46	134					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10085076	10085076	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:10085076G>A	ENST00000264828.3	-	46	3436	c.3351C>T	c.(3349-3351)gaC>gaT	p.D1117D		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1117	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTGAGCCCCGTCTGCTCCCT	0.597000													12	32					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68930587	68930587	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:68930587C>T	ENST00000356291.2	-	8	890	c.831G>A	c.(829-831)agG>agA	p.R277R	RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	277	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GAATAATTTTCCTCACATTTC	0.343000													11	26					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179460800	179460800	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:179460800G>A	ENST00000367618.3	+	19	2606	c.2219G>A	c.(2218-2220)gGa>gAa	p.G740E		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	740										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CATGATATAGGAGTTGCGCGA	0.423000													37	115					0	0	1	0	0
RNF34	80196	broad.mit.edu	37	12	121858580	121858580	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:121858580C>T	ENST00000361234.5	+	5	1099	c.928_splice	c.e5+1	p.S309_splice	RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Splice_Site_p.S309_splice|RNF34_ENST00000392465.3_Splice_Site_p.S310_splice	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	309					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		ACCAAAAGTCCTGTAGGTTTA	0.328000													25	76					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28843876	28843876	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:28843876A>C	ENST00000336783.4	+	12	1743	c.1576A>C	c.(1576-1578)Ata>Cta	p.I526L	ATXN2L_ENST00000325215.6_Missense_Mutation_p.I526L|ATXN2L_ENST00000340394.8_Missense_Mutation_p.I526L|ATXN2L_ENST00000564304.1_Missense_Mutation_p.I532L|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.I526L|ATXN2L_ENST00000570200.1_Missense_Mutation_p.I526L|ATXN2L_ENST00000382686.4_Missense_Mutation_p.I526L	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	526						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCTGGCTCGGATAGCTGGGAA	0.468000													45	103					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116633707	116633707	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:116633707G>A	ENST00000260210.4	-	4	621	c.598C>T	c.(598-600)Cct>Tct	p.P200S	BUD13_ENST00000375445.3_Missense_Mutation_p.P200S	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	200	Arg-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GGGGGAGAAGGATCTGGAGAA	0.567000													67	154					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233482258	233482258	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:233482258G>A	ENST00000366624.3	+	2	1137	c.876G>A	c.(874-876)ttG>ttA	p.L292L	MLK4_ENST00000366623.3_Silent_p.L292L	NM_032435.2	NP_115811.2																					ATTTTGGGTTGGCGAGGGAAT	0.433000													17	40					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51516200	51516200	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:51516200G>A	ENST00000328188.1	+	1	919	c.919G>A	c.(919-921)Ggt>Agt	p.G307S		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GGACATTTCAGGTGACAAATA	0.358000													18	46					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10426925	10426925	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:10426925C>T	ENST00000245503.5	-	37	5744	c.5360G>A	c.(5359-5361)cGg>cAg	p.R1787Q	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1787Q	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1787					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						CTTCTTCATCCGCTCCAGGTG	0.517000													48	141					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115524038	115524038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:115524038C>T	ENST00000369522.3	+	29	2704	c.2464C>T	c.(2464-2466)Cga>Tga	p.R822*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.R822*|SYCP1_ENST00000477590.1_3'UTR	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	822					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACTGTATCTCGAAATTTCAC	0.338000													25	88					0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057497	46057497	+	Missense_Mutation	SNP	A	A	G	rs377408		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:46057497A>G	ENST00000380095.1	+	1	225	c.163A>G	c.(163-165)Acg>Gcg	p.T55A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	55	15 X 5 AA repeats of C-C-X(3).					keratin filament		p.T55A(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCTGCCAGACGGCCTGTGA	0.662000													7	138					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3215171	3215171	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:3215171G>A	ENST00000356443.4	-	2	384	c.51C>T	c.(49-51)taC>taT	p.Y17Y	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Silent_p.Y17Y|MYOM1_ENST00000400569.3_Silent_p.Y17Y	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	17						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCTTGTTGCGGTAGCTGAGAT	0.567000													5	16					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167659311	167659311	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:167659311C>T	ENST00000367854.3	+	4	555	c.224C>T	c.(223-225)cCt>cTt	p.P75L	RCSD1_ENST00000537350.1_Missense_Mutation_p.P45L	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	75										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCGAGCCACCCTCCTAAATTC	0.438000													24	87					0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226050212	226050212	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:226050212G>A	ENST00000366835.3	-	12	1164	c.894C>T	c.(892-894)ctC>ctT	p.L298L	TMEM63A_ENST00000537914.1_5'UTR|TMEM63A_ENST00000474478.1_5'UTR	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	298						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TGGGGTTGATGAGGGTCCGCT	0.592000													30	88					0	0	1	0	0
ZNF627	199692	broad.mit.edu	37	19	11725466	11725466	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:11725466T>C	ENST00000361113.5	+	2	336	c.128T>C	c.(127-129)gTa>gCa	p.V43A	ZNF627_ENST00000588174.1_Missense_Mutation_p.V43A	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CTGGCTTCTGTAGGTAAGGGT	0.478000													38	107					0	0	1	0	0
IGLV1-36	28826	broad.mit.edu	37	22	22786692	22786692	+	RNA	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:22786692G>A	ENST00000390301.2	+	0	282																											GTCTCTGACCGATTCTCTGGC	0.532000													49	127					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071651	53071651	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:53071651G>A	ENST00000276480.7	-	15	2296	c.1613C>T	c.(1612-1614)cCa>cTa	p.P538L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	538						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AAATTTCACTGGATTTGGAAA	0.418000													16	73					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206641084	206641084	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:206641084C>T	ENST00000357118.4	+	16	2571	c.2540C>T	c.(2539-2541)tCc>tTc	p.S847F	NRP2_ENST00000540178.1_Intron|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000272849.3_Missense_Mutation_p.S852F|NRP2_ENST00000357785.5_Intron	NM_201267.1	NP_957719.1	O60462	NRP2_HUMAN	neuropilin 2	0					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GTGCTGGTCTCCGTCGCGCTG	0.642000											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	96					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770514	31770514	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:31770514G>A	ENST00000240587.4	-	2	512	c.185C>T	c.(184-186)tCc>tTc	p.S62F		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	62					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGGCCGGGGAGTTCTGGTA	0.587000													15	37					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128204728	128204728	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:128204728G>A	ENST00000341105.2	-	3	1044	c.713C>T	c.(712-714)aCc>aTc	p.T238I	GATA2_ENST00000487848.1_Missense_Mutation_p.T238I|GATA2_ENST00000430265.2_Missense_Mutation_p.T238I	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	238					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGCAGGCTGGGTGCCCATAGT	0.632000			Mis		AML(CML blast transformation)								17	41					0	0	1	0	0
PTGES	9536	broad.mit.edu	37	9	132510954	132510954	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:132510954G>A	ENST00000340607.4	-	2	223	c.189C>T	c.(187-189)ccC>ccT	p.P63P	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	63					prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity			lung(1)|skin(1)	2		Ovarian(14;0.00556)				GTTCCACGTCGGGGTCGCTCC	0.602000													8	12					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606578	21606578	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:21606578G>A	ENST00000392288.2	+	4	1226	c.1117G>A	c.(1117-1119)Gga>Aga	p.G373R	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.G245R	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AATTCATACTGGAGAGAAACC	0.358000													20	65					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188228	140188228	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:140188228G>A	ENST00000530339.1	+	1	1456	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E486K|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E486K	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGCAGGAGAACGCGCT	0.657000													38	71					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													11	93					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38958577	38958577	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:38958577G>A	ENST00000357387.3	-	24	2418	c.2388C>T	c.(2386-2388)caC>caT	p.H796H	RICTOR_ENST00000503698.1_5'UTR|RICTOR_ENST00000296782.5_Silent_p.H796H	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	796					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGTCTCCAAGGTGGGATAACG	0.318000													23	54					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67313980	67313980	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:67313980C>T	ENST00000360461.5	+	1	2568	c.33C>T	c.(31-33)tcC>tcT	p.S11S	PLEKHG4_ENST00000379344.3_Silent_p.S11S|PLEKHG4_ENST00000427155.2_Silent_p.S11S|PLEKHG4_ENST00000450733.1_Silent_p.S11S	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	11					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGGATGAGTCCCCAGACTCTC	0.617000													13	36					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26508829	26508829	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:26508829G>A	ENST00000244513.6	+	7	1074	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	336	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AACTGCCTGAGAAAACAGAGA	0.507000													56	141					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107125916	107125916	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:107125916C>T	ENST00000392842.1	+	14	1774	c.1360C>T	c.(1360-1362)Cac>Tac	p.H454Y	RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000229387.5_Missense_Mutation_p.H360Y|RFX4_ENST00000357881.4_Missense_Mutation_p.H463Y|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	454	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AGGGTCTTTTCACCTAATTCA	0.468000													28	108					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262127	45262127	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:45262127G>A	ENST00000303230.4	-	8	2626	c.2569C>T	c.(2569-2571)Cct>Tct	p.P857S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	857	Poly-Pro.			P -> L (in Ref. 2; AAC39759).		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGTGCTGGAGGGACTCCTCGG	0.597000													26	82					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121476001	121476001	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:121476001G>A	ENST00000305949.1	+	10	1092	c.1047_splice	c.e10+1	p.K349_splice		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	349					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TGTGTAGCAAGGTATTGAGGG	0.348000													54	131					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1137706	1137706	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:1137706G>A	ENST00000397203.2	+	2	1043	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	ERC1_ENST00000360905.4_Missense_Mutation_p.E213K|ERC1_ENST00000355446.5_Missense_Mutation_p.E213K|ERC1_ENST00000543086.3_Missense_Mutation_p.E213K|ERC1_ENST00000546231.2_Missense_Mutation_p.E213K|ERC1_ENST00000589028.1_Missense_Mutation_p.E213K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	213					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CATTTGGAAGGAACAGTACAG	0.403000													14	42					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496610	20496610	+	RNA	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:20496610G>A	ENST00000555186.1	+	0	663					NR_038836.1																						TCTACTAGTCGAAAGTGGCCT	0.438000													10	51					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677804	7677804	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:7677804C>T	ENST00000446248.2	+	13	2607	c.2506C>T	c.(2506-2508)Cac>Tac	p.H836Y	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.H809Y	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	809	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CAGCCTCCCCCACCTGCGCAA	0.721000													9	15					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882796	228882796	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:228882796C>T	ENST00000392056.3	-	7	2820	c.2774G>A	c.(2773-2775)tGc>tAc	p.C925Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.C925Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	925						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTCTGTAATGCAGTAGATGTC	0.483000													50	161					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17496568	17496568	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:17496568C>T	ENST00000302539.4	-	2	280	c.155G>A	c.(154-156)gGa>gAa	p.G52E	ABCC8_ENST00000389817.3_Missense_Mutation_p.G52E	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	52					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCTCTGACTTCCCCATCCTGC	0.582000													15	34					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356147	10356147	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:10356147C>T	ENST00000255381.2	-	25	3324	c.3214G>A	c.(3214-3216)Gat>Aat	p.D1072N	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1072					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTTCTGTATCCATTGTGGAT	0.368000													49	114					0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100701062	100701062	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:100701062G>A	ENST00000370132.3	-	3	194	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	DBT_ENST00000370131.3_Missense_Mutation_p.R61C	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	61					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		ACCTGTCCACGGAGAGCTTCA	0.338000													23	41					0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110428013	110428013	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:110428013G>A	ENST00000506538.2	+	1	600	c.27G>A	c.(25-27)cgG>cgA	p.R9R	WDR36_ENST00000513710.2_Silent_p.R9R	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	9					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GCAGTCTCCGGAAACGCGATT	0.592000													22	99					0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499489	34499489	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:34499489G>A	ENST00000538621.1	+	9	1395	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	PACSIN1_ENST00000244458.2_Missense_Mutation_p.D384N|PACSIN1_ENST00000374043.2_Missense_Mutation_p.D342N	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	384					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CTTTGAGGACGACTCCAAGGG	0.662000													64	126					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21330956	21330956	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:21330956C>T	ENST00000313654.9	+	5	1000	c.759C>T	c.(757-759)acC>acT	p.T253T	LAMA3_ENST00000399516.3_Silent_p.T253T	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	253	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGAGTTTACCAAGGCAACAA	0.473000													27	75					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73721590	73721590	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:73721590C>T	ENST00000427855.1	+	14	1593	c.1491C>T	c.(1489-1491)tcC>tcT	p.S497S	PAPLN_ENST00000340738.5_Silent_p.S470S|PAPLN_ENST00000555445.1_Silent_p.S497S|PAPLN_ENST00000554301.1_Silent_p.S497S|PAPLN_ENST00000381166.3_Silent_p.S497S			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	497	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTCAGTGCTCCAAGAGCTGCA	0.677000													12	41					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15134028	15134028	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:15134028C>T	ENST00000379554.3	+	1	59	c.13C>T	c.(13-15)Cct>Tct	p.P5S		NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	5					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GAGACGGCCCCCTGGCAATGG	0.622000													10	18					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169612443	169612443	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:169612443G>A	ENST00000335742.7	+	8	1712	c.355_splice	c.e8+1	p.E119_splice	PALLD_ENST00000512127.1_Splice_Site_p.E119_splice|PALLD_ENST00000505667.1_Splice_Site_p.E501_splice|PALLD_ENST00000261509.6_Splice_Site_p.E501_splice|PALLD_ENST00000333488.4_Splice_Site_p.D378_splice			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	501					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AGCTGAACCTGGTAAGAATAT	0.338000									Pancreatic Cancer, Familial Clustering of				13	30					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103124013	103124013	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:103124013G>A	ENST00000375735.2	+	66	10186		c.e66-1		DYNC2H1_ENST00000398093.3_Splice_Site|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1						cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTTTAAATAGGACCACGTTA	0.299000													15	39					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160798482	160798482	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:160798482G>A	ENST00000283243.7	-	30	4405	c.4199C>T	c.(4198-4200)cCt>cTt	p.P1400L	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1400					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AACCGCAAGAGGAATGATGCT	0.408000													31	43					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087373	9087373	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:9087373G>A	ENST00000397910.4	-	1	4645	c.4442C>T	c.(4441-4443)tCa>tTa	p.S1481L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1481	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						ACTCATGGGTGAACTTGGACT	0.433000													60	150					0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	3024175	3024175	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:3024175C>T	ENST00000398052.4	+	10	1310	c.967C>T	c.(967-969)Cgt>Tgt	p.R323C	GRK4_ENST00000504933.1_Missense_Mutation_p.R323C|GRK4_ENST00000398051.4_Missense_Mutation_p.R291C|GRK4_ENST00000345167.6_Missense_Mutation_p.R291C	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	323	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R323C(1)		lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTTGATGATCGTGGTAAGTG	0.423000													48	114					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14548331	14548331	+	RNA	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:14548331G>A	ENST00000273083.3	-	0	2440							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGCCACCCTCGGTGGCCGAGC	0.657000													3	11					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905804	5905804	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:5905804C>T	ENST00000316987.2	+	1	304	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCAAGAGATCAGCTTTGGGG	0.458000													42	132					0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20483063	20483063	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:20483063C>T	ENST00000305045.2	-	1	289	c.290G>A	c.(289-291)gGa>gAa	p.G97E		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGCCATACATCCTCCAAAGGA	0.488000													23	52					0	0	1	0	0
DUSP1	1843	broad.mit.edu	37	5	172195898	172195898	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:172195898G>A	ENST00000239223.3	-	4	1213	c.971C>T	c.(970-972)cCc>cTc	p.P324L	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	324	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		AGCCATGGCGGGGCTCCCAGC	0.617000													26	56					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37117984	37117984	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:37117984C>T	ENST00000435416.1	+	3	2677	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	ZNF382_ENST00000439428.1_Silent_p.L394L|ZNF382_ENST00000423582.1_Silent_p.L346L|ZNF382_ENST00000292928.2_Silent_p.L395L			Q96SR6	ZN382_HUMAN	zinc finger protein 382	395	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTCATACCTCATTGATCACC	0.468000													33	79					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9243864	9243864	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:9243864G>A	ENST00000318602.7	-	19	2709	c.2402C>T	c.(2401-2403)tCt>tTt	p.S801F		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	801					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ACGAATCACAGAGTAAGGCAT	0.507000													24	95					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6045616	6045616	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:6045616G>A	ENST00000265849.7	-	2	175	c.70C>T	c.(70-72)Cat>Tat	p.H24Y	PMS2_ENST00000406569.3_Missense_Mutation_p.H24Y|PMS2_ENST00000382321.4_Missense_Mutation_p.H24Y|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	24					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CAAATCTGATGGACTGACTTC	0.408000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				77	216					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31538286	31538286	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:31538286C>T	ENST00000261592.5	-	7	1450	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	NOL4_ENST00000589544.1_Missense_Mutation_p.E385K|NOL4_ENST00000538587.1_Missense_Mutation_p.E311K|NOL4_ENST00000535475.1_Missense_Mutation_p.E230K|NOL4_ENST00000535384.1_Missense_Mutation_p.E100K|NOL4_ENST00000269185.4_Missense_Mutation_p.E271K	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	385						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGGTCATCTTCGTCCTCATCT	0.502000													53	155					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16348345	16348345	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:16348345C>G	ENST00000408042.1	-	23	3782	c.3625G>C	c.(3625-3627)Gtt>Ctt	p.V1209L	KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTTGGCAAAACTAAATCAGGG	0.448000													12	20					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855638	12855638	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:12855638G>A	ENST00000332296.7	+	4	1021	c.918G>A	c.(916-918)ttG>ttA	p.L306L	PRAMEF1_ENST00000400814.3_Silent_p.L61L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	306										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTACCTATTGGAAGAAGACA	0.478000													51	46					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107626774	107626774	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:107626774G>A	ENST00000393561.1	-	4	714	c.530C>T	c.(529-531)tCg>tTg	p.S177L	LAMB1_ENST00000222399.6_Missense_Mutation_p.S153L|LAMB1_ENST00000393560.1_Missense_Mutation_p.S153L			P07942	LAMB1_HUMAN	laminin, beta 1	153	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.S153L(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAGTCGGACGATCGTTCTAT	0.428000													30	76					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42748973	42748973	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:42748973C>T	ENST00000330714.3	+	2	324	c.140C>T	c.(139-141)cCa>cTa	p.P47L	MX2_ENST00000543692.1_Missense_Mutation_p.P47L	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	47					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ATGTTTCCTCCAAACTGGCAG	0.483000													51	123					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530097	140530097	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:140530097G>A	ENST00000231136.1	+	1	259	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		87	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGCTAAATGAAAAACTGGA	0.517000													34	100					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10971334	10971334	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:10971334G>A	ENST00000298232.7	-	5	390	c.23C>T	c.(22-24)aCt>aTt	p.T8I	TPTE_ENST00000342420.5_Missense_Mutation_p.T8I|TPTE_ENST00000361285.4_Missense_Mutation_p.T8I|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	8					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGCCAGGTCAGTCGGATCAGG	0.448000													6	53					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769113	13769113	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:13769113C>T	ENST00000265104.4	-	58	9957	c.9853G>A	c.(9853-9855)Gaa>Aaa	p.E3285K	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3285	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTGCTGCTTCCAGTTTTTCT	0.468000									Kartagener syndrome				57	151					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581373	82581373	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:82581373G>A	ENST00000423517.2	-	5	9233	c.8896C>T	c.(8896-8898)Cgt>Tgt	p.R2966C	PCLO_ENST00000333891.8_Missense_Mutation_p.R2966C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2897					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R2897C(1)|p.R2966C(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAACCAAAACGATCCTCAGGA	0.463000													45	139					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68337239	68337239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:68337239G>A	ENST00000393799.2	+	11	1419	c.1152G>A	c.(1150-1152)tgG>tgA	p.W384*	PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.W384*|PPP6R3_ENST00000393800.2_Nonsense_Mutation_p.W384*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.W384*|PPP6R3_ENST00000534534.1_Nonsense_Mutation_p.W152*|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.W333*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.W384*|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.W384*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.W384*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.W333*			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	384					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGTATACATGGAATAACTTTT	0.323000													66	46					0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90585838	90585838	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:90585838C>T	ENST00000371930.4	-	4	566	c.356G>A	c.(355-357)cGa>cAa	p.R119Q		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	119								p.R119Q(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		AAGTAGCATTCGTACAAGAGC	0.328000													20	68					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49568863	49568863	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:49568863C>T	ENST00000545947.1	+	6	1641	c.919C>T	c.(919-921)Ccc>Tcc	p.P307S	DAG1_ENST00000538711.1_Missense_Mutation_p.P307S|DAG1_ENST00000539901.1_Missense_Mutation_p.P307S|DAG1_ENST00000308775.2_Missense_Mutation_p.P307S|DAG1_ENST00000541308.1_Missense_Mutation_p.P307S|DAG1_ENST00000515359.2_Missense_Mutation_p.P307S	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	307	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCCCCCTCTTCCCAAACGCGT	0.617000													36	87					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26785320	26785320	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:26785320G>A	ENST00000376236.4	+	4	615	c.160_splice	c.e4+1	p.E54_splice	APBB1IP_ENST00000356785.4_Splice_Site_p.E54_splice	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	54					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGATTTAAATGGTAAGCATAA	0.318000													21	48					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253616	134253616	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:134253616G>A	ENST00000524765.1	-	3	5123	c.579C>T	c.(577-579)ttC>ttT	p.F193F	B3GAT1_ENST00000392580.1_Silent_p.F193F|B3GAT1_ENST00000312527.4_Silent_p.F193F|B3GAT1_ENST00000537389.1_Silent_p.F206F			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	193					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGTCGTCGGCGAAGTAGACCA	0.692000													8	4					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	132990750	132990750	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:132990750C>T	ENST00000253861.4	+	4	620	c.591C>T	c.(589-591)caC>caT	p.H197H	EXOC4_ENST00000539845.1_Silent_p.H96H|EXOC4_ENST00000393161.2_Silent_p.H197H	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	197					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATGAACTACACCGGCACCTGT	0.488000													26	55					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629578	1629578	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:1629578C>T	ENST00000399685.1	-	1	115	c.38G>A	c.(37-39)aGc>aAc	p.S13N		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	13						keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GCCCCCACAGCTGGAGCCACA	0.662000													57	134					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37011993	37011993	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:37011993C>T	ENST00000418263.1	+	3	872	c.522C>T	c.(520-522)ttC>ttT	p.F174F	CCNA1_ENST00000255465.4_Silent_p.F175F|CCNA1_ENST00000440264.1_Silent_p.F131F|CCNA1_ENST00000449823.1_Silent_p.F131F	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	175					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ACCTGCACTTCCTGCTGGATT	0.493000													49	109					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123136850	123136850	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:123136850C>T	ENST00000466202.1	-	7	1710	c.1134G>A	c.(1132-1134)agG>agA	p.R378R	IQUB_ENST00000324698.6_Silent_p.R378R|IQUB_ENST00000434450.1_Silent_p.R378R			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	378										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTCTTATCTTCCTTAGTTCTT	0.333000													12	24					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531727	92531727	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:92531727C>T	ENST00000298047.6	+	9	5565	c.5548C>T	c.(5548-5550)Cat>Tat	p.H1850Y	FAT3_ENST00000525166.1_Missense_Mutation_p.H1700Y|FAT3_ENST00000409404.2_Missense_Mutation_p.H1850Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1850	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTCCATTTTCATGTGCATGT	0.463000										TCGA Ovarian(4;0.039)			13	29					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60886298	60886298	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:60886298G>A	ENST00000252999.3	-	73	10074	c.10008C>T	c.(10006-10008)acC>acT	p.T3336T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3336					angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCTCGGGTGGTCCTGAGGT	0.682000													5	22					0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168467458	168467458	+	Translation_Start_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:168467458G>A	ENST00000537786.1	-	0	156				FRMD1_ENST00000283309.6_Silent_p.Y146Y|FRMD1_ENST00000440994.2_Silent_p.Y78Y			Q8N878	FRMD1_HUMAN	FERM domain containing 1							cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CGTTTTCCACGTAGTGCTGCA	0.547000													27	34					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100393	168100393	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:168100393G>A	ENST00000409195.1	+	9	2580	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E831K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E609K|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	656					actin cytoskeleton organization	cell junction	actin binding	p.E831K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATTGAAAAGGAAAAAATAAT	0.388000													40	92					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076139	9076139	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:9076139G>A	ENST00000397910.4	-	3	11510	c.11307C>T	c.(11305-11307)atC>atT	p.I3769I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3770	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						TAGCTGGGCTGATCATGGTTT	0.527000													60	127					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429708	135429708	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:135429708G>A	ENST00000394143.1	+	6	4134	c.3843G>A	c.(3841-3843)aaG>aaA	p.K1281K	GPR112_ENST00000370652.1_Silent_p.K1281K|GPR112_ENST00000412101.1_Silent_p.K1076K|GPR112_ENST00000394141.1_Silent_p.K1076K|GPR112_ENST00000287534.4_Silent_p.K1218K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1281					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCCCATCAAAGAATTCTTTTA	0.433000													30	52					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156812213	156812213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:156812213G>A	ENST00000368195.3	-	18	3610	c.3214C>T	c.(3214-3216)Cga>Tga	p.R1072*	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1072	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCAAAGATCGAAGATGGCTC	0.592000													32	102					0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446457	169446457	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:169446457G>A	ENST00000236137.5	-	2	979	c.743C>T	c.(742-744)cCt>cTt	p.P248L	SLC19A2_ENST00000367802.3_Intron|SLC19A2_ENST00000367804.3_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	248					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					CTCCCAGCCAGGAAGGTGGTT	0.468000													42	98					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14905670	14905670	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:14905670C>T	ENST00000285046.5	+	2	2671	c.2561C>T	c.(2560-2562)tCg>tTg	p.S854L	FGD5_ENST00000543601.1_Missense_Mutation_p.S613L	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	854					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGTCCCATCTCGTCGGCAGCC	0.532000													27	61					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44917198	44917198	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:44917198C>T	ENST00000429094.2	-	17	2378	c.1874G>A	c.(1873-1875)gGa>gAa	p.G625E	NELL2_ENST00000395487.2_Missense_Mutation_p.G624E|NELL2_ENST00000452445.2_Missense_Mutation_p.G625E|NELL2_ENST00000549027.1_Missense_Mutation_p.G624E|NELL2_ENST00000551601.1_Missense_Mutation_p.G577E|NELL2_ENST00000437801.2_Missense_Mutation_p.G675E|NELL2_ENST00000333837.4_Missense_Mutation_p.G648E	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	625	EGF-like 6; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.G625A(1)|p.G675A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACAATCATATCCGCCATCCAA	0.443000													34	89					0	0	1	0	0
FGF20	26281	broad.mit.edu	37	8	16850796	16850796	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:16850796C>T	ENST00000180166.5	-	3	569	c.421G>A	c.(421-423)Gag>Aag	p.E141K		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	141					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCAAACTGCTCCCTAAAGATG	0.348000													41	127					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283829	159283829	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:159283829G>A	ENST00000332217.5	-	1	620	c.621C>T	c.(619-621)gtC>gtT	p.V207V		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V207V(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GTAGAACAAGGACACAGACGC	0.478000													39	121					0	0	1	0	0
DCAF4	26094	broad.mit.edu	37	14	73406578	73406578	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:73406578C>T	ENST00000555042.1	+	3	226	c.161C>T	c.(160-162)tCg>tTg	p.S54L	DCAF4_ENST00000394234.2_5'UTR|DCAF4_ENST00000358377.2_Missense_Mutation_p.S54L|DCAF4_ENST00000353777.3_Missense_Mutation_p.S54L|DCAF4_ENST00000510612.1_3'UTR|DCAF4_ENST00000553457.1_5'UTR|DCAF4_ENST00000509153.1_Missense_Mutation_p.S54L	NM_001163508.1	NP_001156980.1	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	54						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CCGTCAACCTCGTCTGGCACA	0.622000													9	10					0	0	1	0	0
UQCRC1	7384	broad.mit.edu	37	3	48641066	48641066	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:48641066G>A	ENST00000203407.5	-	6	1053	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	213					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	AAGTCTGCACGAGACAGCTTC	0.527000													13	28					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672781	141672781	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:141672781G>A	ENST00000547270.1	-	1	792	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	237					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TCCAGGCTGGGGTCACGAGAG	0.498000													20	58					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589940	156589940	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:156589940G>A	ENST00000302938.4	-	2	1431	c.1336C>T	c.(1336-1338)Cac>Tac	p.H446Y		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	446						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCTTGCGGTGATGAGAACTT	0.502000													63	139					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120797766	120797766	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:120797766G>A	ENST00000369144.3	-	20	3839	c.3712C>T	c.(3712-3714)Cgc>Tgc	p.R1238C	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1204C|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1238	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTTCTGAAGCGATCCTCTCGA	0.493000													23	45					0	0	1	0	0
DEFB119	245932	broad.mit.edu	37	20	29976852	29976852	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:29976852C>T	ENST00000376315.2	-	2	242	c.243G>A	c.(241-243)atG>atA	p.M81I	DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376321.3_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	0					defense response to bacterium	extracellular region		p.M81I(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TATTTGTCTTCATTTTTGGAG	0.383000													14	51					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11348193	11348193	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:11348193G>A	ENST00000294618.7	-	18	2023	c.2012C>T	c.(2011-2013)cCc>cTc	p.P671L	C19orf80_ENST00000591200.1_5'UTR|DOCK6_ENST00000319867.7_5'UTR	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	671	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GAGACAGAAGGGGCCGGTCCT	0.672000													21	52					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721324	160721324	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:160721324C>T	ENST00000274547.2	-	11	1520	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	GABRB2_ENST00000517901.1_Missense_Mutation_p.D334N|GABRB2_ENST00000393959.1_Missense_Mutation_p.D435N|GABRB2_ENST00000520240.1_Missense_Mutation_p.D397N|GABRB2_ENST00000353437.6_Missense_Mutation_p.D397N|GABRB2_ENST00000517547.1_Missense_Mutation_p.D237N	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	435					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTGGAGGCATCATAGGCTAGC	0.498000													29	73					0	0	1	0	0
LSG1	55341	broad.mit.edu	37	3	194379860	194379860	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:194379860T>A	ENST00000265245.5	-	7	899	c.585A>T	c.(583-585)gaA>gaT	p.E195D		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	195					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TCACATAACATTCCTAAGCAA	0.398000													43	92					0	0	1	0	0
LOC101928215	101928215	broad.mit.edu	37	16	29115563	29115563	+	RNA	SNP	G	G	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:29115563G>T	ENST00000562618.1	-	0	1254				RRN3P2_ENST00000564580.1_RNA																							ATAGTAAGTGGCAAgtcgctc	0.488000													22	42					1.96292e-10	1.98544e-10	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113316976	113316976	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:113316976C>T	ENST00000297405.5	-	52	8484	c.8240G>A	c.(8239-8241)tGg>tAg	p.W2747*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W2707*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W2677*|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2747	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCATTTCTCCAACTCCAAGT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	57					0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158534506	158534506	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:158534506G>A	ENST00000367104.3	-	16	1934	c.1803C>T	c.(1801-1803)ctC>ctT	p.L601L	SERAC1_ENST00000367102.2_3'UTR	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	601					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GTACCACATGGAGCTTAATCA	0.383000													20	58					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4854879	4854879	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:4854879G>A	ENST00000354582.6	+	56	7827	c.7477G>A	c.(7477-7479)Gag>Aag	p.E2493K	ITPR1_ENST00000544951.1_Missense_Mutation_p.E471K|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Missense_Mutation_p.E2445K|ITPR1_ENST00000443694.2_Missense_Mutation_p.E2493K|ITPR1_ENST00000423119.2_Missense_Mutation_p.E2460K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E2460K|ITPR1_ENST00000302640.8_Missense_Mutation_p.E2493K			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2508	Interaction with ERP44 (By similarity).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTGTAGGGTGGAGAGTGGGGA	0.507000													44	71					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7700489	7700489	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:7700489G>A	ENST00000303635.7	+	7	747	c.540G>A	c.(538-540)ctG>ctA	p.L180L	CAMTA1_ENST00000439411.2_Silent_p.L180L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGCACTACCTGAACGTGCCGG	0.632000			T	WWTR1	epitheliod hemangioendothelioma								28	45					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10129507	10129507	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:10129507C>T	ENST00000591589.1	+	3	612	c.423C>T	c.(421-423)ctC>ctT	p.L141L	RDH8_ENST00000171214.1_Silent_p.L121L			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	121					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CTGTCCGTCTCGTCAAAGCTG	0.592000													34	102					0	0	1	0	0
UBE2U	148581	broad.mit.edu	37	1	64671363	64671363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:64671363G>A	ENST00000371077.4	+	2	532	c.108G>A	c.(106-108)tgG>tgA	p.W36*	UBE2U_ENST00000371076.3_Nonsense_Mutation_p.W36*			Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	36							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						TGATGGAATGGGAAGTTGAAA	0.289000													18	79					0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22006032	22006032	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:22006032G>A	ENST00000306317.2	-	8	1577	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	LGI3_ENST00000424267.2_Missense_Mutation_p.R406C	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	430					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		p.R430G(1)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGGCCGGCACGAAAGTGTTTC	0.632000													11	38					0	0	1	0	0
FHL3	2275	broad.mit.edu	37	1	38465046	38465046	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:38465046G>A	ENST00000373016.3	-	2	207	c.39C>T	c.(37-39)tcC>tcT	p.S13S	FHL3_ENST00000485803.1_Intron	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	13					muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTCCATACAGGGACTCGTTGC	0.542000													20	52					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401558	11401558	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:11401558C>T	ENST00000002596.5	-	2	1246	c.72G>A	c.(70-72)gaG>gaA	p.E24E		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	24						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCTGGCCTAGCTCGGCGGGGC	0.706000													6	9					0	0	1	0	0
DAND5	199699	broad.mit.edu	37	19	13080430	13080430	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:13080430C>T	ENST00000585548.1	+	2	142	c.46C>T	c.(46-48)Cca>Tca	p.P16S	DAND5_ENST00000317060.2_5'UTR			Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	0						extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			GACCTTGAGCCCAGTCCGgac	0.587000													44	74					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29056140	29056140	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:29056140C>T	ENST00000257189.4	+	16	3000	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	973					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCCAGTGTTCCTGGCAACCT	0.498000													46	128					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65266531	65266531	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:65266531G>A	ENST00000389722.3	-	8	1051	c.998C>T	c.(997-999)tCg>tTg	p.S333L	SPTB_ENST00000389720.3_Missense_Mutation_p.S333L|SPTB_ENST00000556626.1_Missense_Mutation_p.S333L|SPTB_ENST00000389721.5_Missense_Mutation_p.S333L|SPTB_ENST00000542895.1_Missense_Mutation_p.S333L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	333					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCCGTCAGCGAGTTGGCAAA	0.602000													20	71					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101198081	101198081	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:101198081C>T	ENST00000294728.2	+	7	1734	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	VCAM1_ENST00000370115.1_Silent_p.L346L|VCAM1_ENST00000370119.4_Silent_p.L483L|VCAM1_ENST00000347652.2_Silent_p.L453L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	545	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TCCGAAAATCCTGTGGAGCAG	0.488000													45	77					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580990	7580990	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:7580990G>A	ENST00000379802.3	+	23	4908	c.4567G>A	c.(4567-4569)Gag>Aag	p.E1523K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1523	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TAGTGCGACGGAGACAATAAA	0.468000													30	103					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143623447	143623447	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:143623447C>T	ENST00000517894.1	+	28	4746	c.3852C>T	c.(3850-3852)tcC>tcT	p.S1284S	BAI1_ENST00000323289.5_Silent_p.S1284S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1284					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCAACGTGTCCAAGCTGCACC	0.662000													15	31					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769800	247769800	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:247769800C>T	ENST00000320002.2	+	1	945	c.913C>T	c.(913-915)Ctc>Ttc	p.L305F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAGGAAACTTCTCTCGGGAAA	0.383000													24	87					0	0	1	0	0
LRRC1	55227	broad.mit.edu	37	6	53747712	53747712	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:53747712G>A	ENST00000370888.1	+	4	661	c.384G>A	c.(382-384)caG>caA	p.Q128Q	LRRC1_ENST00000370882.1_Silent_p.Q128Q	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	128						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTGAATTACAGAATTTAACAT	0.323000													9	37					0	0	1	0	0
FBXL20	84961	broad.mit.edu	37	17	37417768	37417768	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:37417768G>A	ENST00000264658.6	-	15	1516	c.1256C>T	c.(1255-1257)cCc>cTc	p.P419L	FBXL20_ENST00000577399.1_Missense_Mutation_p.P421L|FBXL20_ENST00000394294.3_Missense_Mutation_p.P387L|FBXL20_ENST00000583610.1_Missense_Mutation_p.P419L	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	419						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TACTGATGGGGGTGGAGTGAC	0.468000													35	82					0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85598217	85598217	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:85598217C>T	ENST00000315658.7	+	7	628	c.369C>T	c.(367-369)atC>atT	p.I123I	ELMOD3_ENST00000409890.2_Silent_p.I123I|ELMOD3_ENST00000428955.2_Silent_p.I123I|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Silent_p.I123I|ELMOD3_ENST00000393852.4_Silent_p.I123I|ELMOD3_ENST00000409013.3_Silent_p.I123I	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	123					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGAAAAGAATCCAGCCAACTA	0.557000													74	170					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073244	197073244	+	Missense_Mutation	SNP	G	G	A	rs143911853		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:197073244G>A	ENST00000367409.4	-	18	5393	c.5137C>T	c.(5137-5139)Cgt>Tgt	p.R1713C	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1713					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						TTTTTGGAACGGTAACATTGC	0.358000													43	97					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315607	30315607	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:30315607G>A	ENST00000375377.1	-	3	3571	c.3470C>T	c.(3469-3471)cCt>cTt	p.P1157L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1157										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TACAAAGAGAGGGCTCTTGGT	0.607000													41	116					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7100290	7100290	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:7100290G>A	ENST00000399510.2	-	11	1850	c.998C>T	c.(997-999)tCc>tTc	p.S333F	DLG4_ENST00000302955.6_Missense_Mutation_p.S287F|DLG4_ENST00000399506.2_Missense_Mutation_p.S290F	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	290	PDZ 3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GCGCCGAGGGGAAGTGGGGGT	0.617000													4	26					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143081732	143081732	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:143081732G>A	ENST00000367603.2	-	9	6435	c.5693C>T	c.(5692-5694)tCc>tTc	p.S1898F	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1898F|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S1898F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTCAGCATCGGAGAACTGATG	0.388000													12	38					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65294435	65294435	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:65294435C>T	ENST00000524944.1	+	6	729	c.696C>T	c.(694-696)atC>atT	p.I232I	SCYL1_ENST00000270176.5_Silent_p.I232I|SCYL1_ENST00000525364.1_Silent_p.I232I|SCYL1_ENST00000533862.1_Silent_p.I232I|SCYL1_ENST00000420247.2_Silent_p.I232I|SCYL1_ENST00000527009.1_Silent_p.I89I|SCYL1_ENST00000279270.6_Silent_p.I232I|SCYL1_ENST00000527630.1_Silent_p.I232I			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	232	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CCCTACAGATCCCCAAAACGC	0.637000													9	40					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106696	168106696	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:168106696G>A	ENST00000409195.1	+	9	8883	c.8794G>A	c.(8794-8796)Gaa>Aaa	p.E2932K	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2932K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2710K|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2757					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTCTGTGAAAGAATCCCAGCG	0.378000													40	102					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101084398	101084398	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:101084398C>T	ENST00000360863.6	-	5	594	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	RGS22_ENST00000523437.1_Missense_Mutation_p.E134K|RGS22_ENST00000523287.1_Intron	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	134					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAATCACTTTCCAGAAATGCT	0.338000													24	62					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381661	156381661	+	Silent	SNP	C	C	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:156381661C>G	ENST00000274532.2	-	2	221	c.165G>C	c.(163-165)ggG>ggC	p.G55G	TIMD4_ENST00000407087.3_Silent_p.G55G	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	55	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTGGTCTTTCCCCCAGCACA	0.532000													29	53					0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76128663	76128663	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:76128663C>T	ENST00000296677.4	+	2	437	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	77					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CCACTGTCTTCCTTCCAATTG	0.468000													51	164					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70946726	70946726	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:70946726G>A	ENST00000334414.6	-	21	5262	c.5218C>T	c.(5218-5220)Cgg>Tgg	p.R1740W	PTPRB_ENST00000451516.2_Missense_Mutation_p.R1432W|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1652W|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1522W|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1432W|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1432W	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1522	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGATACACCCGAATGGAGGCA	0.483000													47	116					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67148008	67148008	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:67148008C>T	ENST00000371037.4	+	15	1348	c.1271C>T	c.(1270-1272)tCg>tTg	p.S424L	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.S428L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	424	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACTGTGGTTTCGTCCCCCGGA	0.552000													74	256					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874743	24874743	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:24874743G>A	ENST00000396432.2	-	26	4961	c.4475C>T	c.(4474-4476)tCa>tTa	p.S1492L		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1491					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTTTCCTAGTGATATCTTTTC	0.438000													72	200					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51757773	51757773	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:51757773C>T	ENST00000251076.5	-	31	7880	c.7593G>A	c.(7591-7593)ctG>ctA	p.L2531L	DMXL2_ENST00000449909.3_Silent_p.L1895L|DMXL2_ENST00000543779.2_Silent_p.L2532L|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2531						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CAGAGAATTCCAGTCCAGCAA	0.338000													33	119					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62462784	62462784	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:62462784C>T	ENST00000430451.2	+	1	244	c.47C>T	c.(46-48)cCt>cTt	p.P16L	SYT16_ENST00000446982.2_Missense_Mutation_p.P16L	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	16										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTCTTCCAGCCTTTCTCTTCC	0.463000													20	52					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905934	5905934	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:5905934C>T	ENST00000316987.2	+	1	434	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCATGATCCTCACCAATAA	0.438000													29	103					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82452714	82452714	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:82452714G>A	ENST00000370728.1	+	24	4270		c.e24+1		LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370723.1_Splice_Site|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000370725.1_Splice_Site|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370717.2_Splice_Site|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000394879.1_Splice_Site|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Splice_Site			O95490	LPHN2_HUMAN	latrophilin 2						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AACTCACCAGGTGTGCTTTAC	0.393000													21	51					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137237251	137237251	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:137237251T>C	ENST00000453654.1	-	20	1650	c.1111A>G	c.(1111-1113)Act>Gct	p.T371A	DGKI_ENST00000424189.2_Missense_Mutation_p.T671A|DGKI_ENST00000288490.5_Missense_Mutation_p.T671A|DGKI_ENST00000446122.1_Missense_Mutation_p.T671A			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	671					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GATTTGTAAGTTAGAAGCATG	0.517000													54	121					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560390	44560390	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:44560390C>T	ENST00000332567.4	-	1	1598	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	416					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.E416K(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCTTGGATTCGTTTGCTTTC	0.507000													34	80					0	0	1	0	0
NPAS1	4861	broad.mit.edu	37	19	47542691	47542691	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:47542691G>A	ENST00000602212.1	+	8	1051	c.831G>A	c.(829-831)cgG>cgA	p.R277R	NPAS1_ENST00000602189.1_Silent_p.R102R|NPAS1_ENST00000449844.2_Silent_p.R277R|NPAS1_ENST00000439365.2_Silent_p.R101R			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	277					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GGCGCCTTCGGGCCCACGCCC	0.687000													26	55					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462631	5462631	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:5462631C>T	ENST00000380211.1	-	1	113	c.114G>A	c.(112-114)atG>atA	p.M38I	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATGGAGATCATGTAGAGGA	0.522000													42	111					0	0	1	0	0
CAB39L	81617	broad.mit.edu	37	13	49885024	49885024	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:49885024C>T	ENST00000355854.4	-	9	1437	c.940G>A	c.(940-942)Gat>Aat	p.D314N	CAB39L_ENST00000409130.1_Missense_Mutation_p.D170N|CAB39L_ENST00000409308.1_Missense_Mutation_p.D314N|CAB39L_ENST00000347776.5_Missense_Mutation_p.D314N|CAB39L_ENST00000410043.1_Missense_Mutation_p.D314N	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	314					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TGCTCATCATCCGTCCTTTCT	0.478000													60	153					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46965029	46965029	+	Missense_Mutation	SNP	G	G	A	rs146472908	by1000genomes	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:46965029G>A	ENST00000374323.3	-	5	1662	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	SYT15_ENST00000374325.3_Missense_Mutation_p.R306W|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Missense_Mutation_p.R306W|SYT15_ENST00000503753.1_Missense_Mutation_p.R306W			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	306	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TCCTGGAGCCGGAGGCCCTTG	0.632000													10	49					0	0	1	0	0
DRG2	1819	broad.mit.edu	37	17	18004859	18004859	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:18004859C>T	ENST00000225729.3	+	8	822	c.684C>T	c.(682-684)ttC>ttT	p.F228F	DRG2_ENST00000395726.4_Silent_p.F228F|DRG2_ENST00000583355.1_Intron	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	228					signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					CGGACGAGTTCATCGATGTGA	0.582000													33	58					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323881	79323881	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:79323881G>A	ENST00000428286.1	-	8	3432	c.2232C>T	c.(2230-2232)aaC>aaT	p.N744N	PRUNE2_ENST00000376718.3_Silent_p.N1103N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1103					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGCCGGGAGTTGGTGCTGC	0.512000													45	65					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117120086	117120086	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:117120086G>A	ENST00000369486.3	-	11	4198	c.3433C>T	c.(3433-3435)Ctt>Ttt	p.L1145F	IGSF3_ENST00000369483.1_Missense_Mutation_p.L1165F|IGSF3_ENST00000318837.6_Missense_Mutation_p.L1165F	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1145						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CGCACCAGAAGGATGGTGATG	0.522000													38	54					0	0	1	0	0
SLC25A11	8402	broad.mit.edu	37	17	4841164	4841164	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:4841164C>T	ENST00000225665.7	-	8	1157	c.817G>A	c.(817-819)Gag>Aag	p.E273K	SLC25A11_ENST00000544061.2_Missense_Mutation_p.E222K	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	273					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						AAGAAGCCCTCGTAGCGGACA	0.607000													44	90					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78444801	78444801	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:78444801C>T	ENST00000397909.2	+	11	2563	c.2390C>T	c.(2389-2391)tCa>tTa	p.S797L	NAV3_ENST00000228327.6_Missense_Mutation_p.S797L|NAV3_ENST00000536525.2_Missense_Mutation_p.S797L|NAV3_ENST00000266692.7_Missense_Mutation_p.S797L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	797						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGAAACATGTCACAGATTGAC	0.507000										HNSCC(70;0.22)			24	53					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007701	6007701	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:6007701G>A	ENST00000332249.4	-	1	514	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGATGCAGGATTGTGGAA	0.507000													21	56					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123319236	123319236	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:123319236C>T	ENST00000275162.4	+	2	1649	c.314C>T	c.(313-315)cCt>cTt	p.P105L	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	105	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GATGGCTTCCCTGGGGGCCTG	0.512000													28	93					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431178	56431178	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:56431178G>A	ENST00000302969.2	+	1	41	c.17G>A	c.(16-18)aGc>aAc	p.S6N		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						AAAGAAAACAGCTCAATGGTG	0.393000													40	123					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196837011	196837011	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:196837011C>T	ENST00000312428.6	-	16	2113	c.2013G>A	c.(2011-2013)agG>agA	p.R671R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	671	Stem (By similarity).				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						TAATGATTTTCCTGTGTTCTT	0.328000													19	72					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124345657	124345657	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:124345657C>T	ENST00000338354.3	+	16	1647	c.1541C>T	c.(1540-1542)tCc>tTc	p.S514F	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.S504F|DMBT1_ENST00000368909.3_Missense_Mutation_p.S514F|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.S504F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	514	SRCR 4.				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)				TACCGAGGCTCCTGGGGCACC	0.587000													155	138					0	0	1	0	0
DPH6	89978	broad.mit.edu	37	15	35830584	35830584	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:35830584G>A	ENST00000440392.2	-	3	253	c.203C>T	c.(202-204)cCc>cTc	p.P68L	DPH6_ENST00000256538.4_Missense_Mutation_p.P68L	NM_001141972.1	NP_001135444.1			diphthamine biosynthesis 6																		GCGATAGAGGGGAAGAGCCAT	0.443000													37	95					0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121734	38121734	+	Silent	SNP	G	G	A	rs145831910		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:38121734G>A	ENST00000395867.3	-	6	1099	c.549C>T	c.(547-549)atC>atT	p.I183I	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Silent_p.I183I|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CTCCAATAGGGATTTTCTCAT	0.343000													18	63					0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53171482	53171482	+	Translation_Start_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:53171482G>A	ENST00000395939.1	+	0	198				DOK5_ENST00000262593.5_Missense_Mutation_p.R26Q			Q9P104	DOK5_HUMAN	docking protein 5								insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ATTTATCAGCGATGCTGGTTA	0.373000													15	30					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67698438	67698438	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:67698438G>C	ENST00000545606.1	+	9	1784	c.1347G>C	c.(1345-1347)aaG>aaC	p.K449N		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	449					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AAAGTGTGAAGACCCGACAGT	0.388000													25	46					0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65713198	65713198	+	RNA	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:65713198C>T	ENST00000532620.1	+	0	283							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						GGTTAGGACCCCGTCGGTGTG	0.607000													14	46					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283909	159283909	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:159283909C>T	ENST00000332217.5	-	1	540	c.541G>A	c.(541-543)Gat>Aat	p.D181N		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TGTCTCACATCACAGAAGAAG	0.498000													34	90					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47886646	47886646	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:47886646A>T	ENST00000289672.2	-	32	5034	c.4984T>A	c.(4984-4986)Tta>Ata	p.L1662I		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1662					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCATCCAATAAGGATAAATAG	0.388000													15	21					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171520703	171520703	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:171520703G>A	ENST00000176763.5	-	9	1610	c.1267C>T	c.(1267-1269)Cag>Tag	p.Q423*		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	423							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGGCTACCTGAATTCTGGCA	0.627000													23	31					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55127399	55127399	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:55127399G>A	ENST00000257290.5	+	3	518	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	PDGFRA_ENST00000508170.1_Missense_Mutation_p.E63K|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	63	Ig-like C2-type 1.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCCCATGTCTGAAGAAGAGAG	0.483000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			49	154					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325056	150325056	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:150325056G>A	ENST00000328902.5	-	3	846	c.630C>T	c.(628-630)gcC>gcT	p.A210A	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	210							GTP binding	p.A210A(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCGCAGTTGGGCCTCCTGCT	0.532000													64	186					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92088437	92088437	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:92088437G>A	ENST00000298047.6	+	1	3176	c.3159G>A	c.(3157-3159)aaG>aaA	p.K1053K	FAT3_ENST00000525166.1_Silent_p.K903K|FAT3_ENST00000409404.2_Silent_p.K1053K|FAT3_ENST00000541502.1_Silent_p.K1053K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1053	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATCTGTAAAGGAAAACTCAC	0.493000										TCGA Ovarian(4;0.039)			38	28					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554112	52554112	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:52554112G>A	ENST00000321725.6	+	51	5464	c.5388G>A	c.(5386-5388)cgG>cgA	p.R1796R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1796	FAS1 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCATTCTGCGGGGCCACATGA	0.617000													28	71					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9792763	9792763	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:9792763G>A	ENST00000262441.5	+	13	1916	c.1403G>A	c.(1402-1404)gGg>gAg	p.G468E	GLP2R_ENST00000574745.1_Missense_Mutation_p.G288E	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	468					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TGTGTCCTGGGGAAGGACTTC	0.592000													36	64					0	0	1	0	0
PRSS23	11098	broad.mit.edu	37	11	86518920	86518920	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:86518920G>A	ENST00000280258.5	+	2	660	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	PRSS23_ENST00000441050.1_Intron|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	79					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCCACTTACGAAGAGGCCAA	0.502000													29	69					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42931065	42931065	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:42931065T>A	ENST00000244289.4	-	1	513	c.237A>T	c.(235-237)caA>caT	p.Q79H	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	79					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AAGCAGATTTTTGTTGGGCTC	0.517000													68	176					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26463190	26463190	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:26463190G>A	ENST00000265944.5	+	30	4163	c.3997G>A	c.(3997-3999)Gag>Aag	p.E1333K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1333					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GACAGTCAAAGAGAGGCAAGT	0.502000													41	105					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43926841	43926841	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:43926841C>T	ENST00000262726.7	-	31	4490	c.4237G>A	c.(4237-4239)Gaa>Aaa	p.E1413K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E1261K|EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1413	Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GCGCCGGCTTCTTTCTAGACA	0.592000													27	53					0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188423	70188423	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:70188423G>A	ENST00000320256.4	-	1	974	c.398C>T	c.(397-399)aCc>aTc	p.T133I		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	133					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CCTTAGCTTGGTGATATGGTC	0.537000													19	45					0	0	1	0	0
GLYCTK	132158	broad.mit.edu	37	3	52324696	52324696	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:52324696C>T	ENST00000354773.4	+	2	434	c.338C>T	c.(337-339)cCc>cTc	p.P113L	GLYCTK_ENST00000473032.1_Missense_Mutation_p.P113L|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000436784.2_Missense_Mutation_p.P113L|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_Missense_Mutation_p.P113L|GLYCTK_ENST00000305690.8_Missense_Mutation_p.P113L	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN	glycerate kinase	113					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		ATCAGCGTTCCCAAGGGGATC	0.612000													14	40					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71046974	71046974	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:71046974G>A	ENST00000272367.2	-	2	187	c.111C>T	c.(109-111)ctC>ctT	p.L37L	CLEC4F_ENST00000426626.1_Silent_p.L37L	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	37					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TAGCCTGAACGAGCCTCGGTA	0.557000													14	68					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45369764	45369764	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:45369764C>T	ENST00000559488.1	+	10	1536	c.1520C>T	c.(1519-1521)tCc>tTc	p.S507F	ITGB3_ENST00000435993.2_Missense_Mutation_p.S460F|ITGB3_ENST00000560629.1_Silent_p.F495F	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	507	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TATCGCCCTTCCCAGCAGGAC	0.622000													32	75					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719540	140719540	+	Silent	SNP	C	C	T	rs149528645		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:140719540C>T	ENST00000394576.2	+	1	1002	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAGGTTATCGTCACGGTTC	0.428000													57	151					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44571352	44571352	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:44571352A>T	ENST00000591793.1	+	7	1784	c.1701A>T	c.(1699-1701)aaA>aaT	p.K567N	ZNF223_ENST00000434772.3_Missense_Mutation_p.K457N			Q9UK11	ZN223_HUMAN	zinc finger protein 223	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				ATCCATCCAAATGTGAAGACT	0.363000													32	64					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137206693	137206693	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:137206693G>A	ENST00000453654.1	-	21	1806	c.1267C>T	c.(1267-1269)Cgt>Tgt	p.R423C	DGKI_ENST00000424189.2_Missense_Mutation_p.R744C|DGKI_ENST00000288490.5_Missense_Mutation_p.R723C|DGKI_ENST00000446122.1_Missense_Mutation_p.R723C			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	723	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCCTCAGACGATCTGGGACA	0.463000													6	27					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31552617	31552617	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:31552617G>A	ENST00000389082.5	-	16	3303	c.3039C>T	c.(3037-3039)gtC>gtT	p.V1013V	DENND5B_ENST00000306833.6_Silent_p.V1048V|DENND5B_ENST00000536562.1_Silent_p.V1048V	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1013	PLAT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTTCATTTCTGACCATGACAC	0.418000													7	31					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43414039	43414039	+	Silent	SNP	C	C	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:43414039C>A	ENST00000244533.3	+	14	3674	c.3315C>A	c.(3313-3315)ctC>ctA	p.L1105L	ABCC10_ENST00000372530.4_Silent_p.L1133L	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1133	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACCTGCGACTCCTTGAGCTAA	0.597000													33	91					4.3181e-19	4.4098e-19	1	1	0
GABRG3	2567	broad.mit.edu	37	15	27778022	27778022	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:27778022C>A	ENST00000333743.6	+	10	1653	c.1399C>A	c.(1399-1401)Ctc>Atc	p.L467I	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	467					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ATACCTGTATCTCTAAGTGTT	0.493000													13	29					6.72482e-11	6.815e-11	1	1	0
ESRRA	2101	broad.mit.edu	37	11	64083425	64083425	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:64083425C>T	ENST00000405666.1	+	7	1493	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	ESRRA_ENST00000000442.6_Missense_Mutation_p.A420V|ESRRA_ENST00000406310.1_Missense_Mutation_p.A419V			P11474	ERR1_HUMAN	estrogen-related receptor alpha	420	AF-2 domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						ATGCTCGAGGCCATGATGGAC	0.642000													12	50					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61946647	61946647	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:61946647G>A	ENST00000280772.1	-	17	2102	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	ANK3_ENST00000373827.2_Silent_p.I631I|ANK3_ENST00000503366.1_Silent_p.I620I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	637					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTGGCAGCGATGTGCAGTG	0.458000													27	80					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35802771	35802771	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:35802771C>T	ENST00000342694.2	+	12	2113	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	620	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	p.R620C(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGGATGTTTCGTTATTCACT	0.408000													38	44					0	0	1	0	0
LYPD5	284348	broad.mit.edu	37	19	44301849	44301849	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:44301849G>A	ENST00000377950.3	-	5	730	c.650C>T	c.(649-651)tCc>tTc	p.S217F	LYPD5_ENST00000414615.2_Missense_Mutation_p.S174F|LYPD5_ENST00000594013.1_Missense_Mutation_p.S174F	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	217						anchored to membrane|plasma membrane				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				CTGGGTCATGGATTTCCTGTT	0.662000													22	58					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	192997197	192997197	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:192997197G>A	ENST00000342358.4	-	28	3390	c.3273C>T	c.(3271-3273)ttC>ttT	p.F1091F	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1091					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)		AAAACAGAATGAAAATTGTGA	0.348000													16	38					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33477071	33477071	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:33477071C>T	ENST00000268876.5	+	4	307	c.210C>T	c.(208-210)atC>atT	p.I70I	UNC45B_ENST00000591048.1_Silent_p.I70I|UNC45B_ENST00000394570.2_Silent_p.I70I|UNC45B_ENST00000378449.1_Silent_p.I70I|UNC45B_ENST00000433649.1_Silent_p.I70I	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	70					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CGATAGCCATCGACATCAACT	0.597000													14	41					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100417334	100417334	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:100417334G>A	ENST00000358173.3	-	6	1610	c.1142C>T	c.(1141-1143)cCc>cTc	p.P381L	EPHB4_ENST00000360620.3_Missense_Mutation_p.P381L|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	381	Fibronectin type-III 1.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCGGGGGCCGGGGTCAAAAGT	0.662000													10	29					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37623548	37623548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:37623548C>T	ENST00000434837.2	-	4	1685	c.507G>A	c.(505-507)tgG>tgA	p.W169*	MDGA1_ENST00000505425.1_Nonsense_Mutation_p.W169*|MDGA1_ENST00000297153.7_Nonsense_Mutation_p.W169*	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	169	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AACCCCGCTTCCAGATGAAGC	0.592000													6	22					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70488850	70488850	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:70488850G>A	ENST00000310961.5	+	18	1906	c.1488G>A	c.(1486-1488)ggG>ggA	p.G496G	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Silent_p.G491G			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	491						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCCAGCGTGGGATTACTCTCC	0.557000													28	45					0	0	1	0	0
CDC40	51362	broad.mit.edu	37	6	110550068	110550068	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:110550068A>G	ENST00000368932.1	+	15	1552	c.1451A>G	c.(1450-1452)cAa>cGa	p.Q484R	CDC40_ENST00000368933.1_Missense_Mutation_p.Q484R|CDC40_ENST00000307731.1_Missense_Mutation_p.Q484R|CDC40_ENST00000368930.1_Missense_Mutation_p.Q484R|CDC40_ENST00000445340.2_Intron			O60508	PRP17_HUMAN	cell division cycle 40	484					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		ATGGACAACCAAATCTTAATT	0.303000													8	26					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38154822	38154822	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:38154822C>T	ENST00000379747.4	-	11	1522	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	POSTN_ENST00000541481.1_Missense_Mutation_p.E469K|POSTN_ENST00000379743.4_Missense_Mutation_p.E469K|POSTN_ENST00000541179.1_Missense_Mutation_p.E469K|POSTN_ENST00000379742.4_Missense_Mutation_p.E469K|POSTN_ENST00000379749.4_Missense_Mutation_p.E469K	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	469	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CATGAATTTTCAATGCAGACA	0.423000													63	150					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58256196	58256196	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:58256196G>A	ENST00000249750.4	-	9	1740	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R229C|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R304C|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R287C|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R296C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	325					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACGAAGATGCGAGAGCCTGCA	0.562000													33	69					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2229562	2229562	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:2229562C>T	ENST00000399655.1	+	3	708	c.443C>T	c.(442-444)cCa>cTa	p.P148L	CACNA1C_ENST00000399603.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.P148L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P148L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.P148L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000406454.3_Missense_Mutation_p.P148L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000347598.4_Missense_Mutation_p.P148L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000480911.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P148L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P148L|CACNA1C_ENST00000399644.1_Missense_Mutation_p.P148L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	148					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATTCCCTTTCCAGAAGATGAT	0.413000													40	104					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	1968969	1968969	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:1968969G>A	ENST00000544865.1	-	17	4257	c.3747C>T	c.(3745-3747)atC>atT	p.I1249I	SMG6_ENST00000263073.5_Silent_p.I1280I|SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000536871.2_Silent_p.I372I|SMG6_ENST00000354901.4_Silent_p.I372I			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1280	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAGCTCATTGATCACTGATG	0.582000													10	25					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881304	33881304	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:33881304G>A	ENST00000504830.1	-	2	744	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P137S|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.P137S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	137					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGGCAGAGGGGGGCAGAGGAA	0.527000										HNSCC(64;0.19)			31	92					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													4	71					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494709	55494709	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:55494709C>T	ENST00000543010.1	+	6	1786	c.1643C>T	c.(1642-1644)cCc>cTc	p.P548L	NLRP2_ENST00000339757.7_Missense_Mutation_p.P526L|NLRP2_ENST00000448584.2_Missense_Mutation_p.P548L|NLRP2_ENST00000538819.1_Missense_Mutation_p.P524L|NLRP2_ENST00000427260.2_Missense_Mutation_p.P525L|NLRP2_ENST00000263437.6_Missense_Mutation_p.P545L|NLRP2_ENST00000391721.4_Missense_Mutation_p.P524L|NLRP2_ENST00000537859.1_Missense_Mutation_p.P526L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	548					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTCAGGAACCCCGACCTGATC	0.567000													31	86					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010865	59010865	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:59010865G>A	ENST00000263093.2	-	7	1770	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I	SLC27A5_ENST00000601355.1_Missense_Mutation_p.T470I	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGACCGGAAGGTGTCCCCGAG	0.657000													12	42					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93563530	93563530	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:93563530A>T	ENST00000557381.1	+	38	5902	c.5195A>T	c.(5194-5196)cAg>cTg	p.Q1732L	CHD2_ENST00000394196.4_Intron			O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	0					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AACCTTTGCCAGGAGCTGTTT	0.458000													14	40					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927207	111927207	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:111927207G>A	ENST00000305815.5	-	16	2056	c.1804C>T	c.(1804-1806)Cgt>Tgt	p.R602C	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R554C	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	602	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TGGCATATACGAAAAAAGAAG	0.269000													30	74					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539605	55539605	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:55539605G>A	ENST00000220676.1	+	4	3311	c.3163G>A	c.(3163-3165)Gaa>Aaa	p.E1055K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1055					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTTTACCAGGAAATAAACCT	0.378000													34	95					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231379974	231379974	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:231379974C>T	ENST00000264052.5	+	25	2614	c.2259C>T	c.(2257-2259)atC>atT	p.I753I	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	753					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAACCTATATCCCTCCTAAAG	0.423000													41	70					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945633	144945633	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:144945633C>T	ENST00000525985.1	-	2	1860	c.1789G>A	c.(1789-1791)Ggc>Agc	p.G597S				P58107	EPIPL_HUMAN	epiplakin 1	597						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCAGGCTGCCCACATCCTTG	0.642000													9	17					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23731084	23731084	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:23731084G>A	ENST00000397312.2	-	3	543	c.269C>T	c.(268-270)cCc>cTc	p.P90L	ELAVL2_ENST00000223951.6_Missense_Mutation_p.P90L|ELAVL2_ENST00000380110.4_Missense_Mutation_p.P119L|ELAVL2_ENST00000544538.1_Missense_Mutation_p.P90L|ELAVL2_ENST00000380117.1_Missense_Mutation_p.P90L	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	90	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGCATCCTTGGGGTCAATGTA	0.373000													14	26					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55129947	55129947	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:55129947T>G	ENST00000257290.5	+	4	812	c.481T>G	c.(481-483)Tta>Gta	p.L161V	PDGFRA_ENST00000508170.1_Missense_Mutation_p.L161V|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	161	Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCCTGTAACCTTACACAACAG	0.498000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			26	101					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67049401	67049401	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:67049401G>A	ENST00000315962.4	+	4	952	c.579G>A	c.(577-579)ctG>ctA	p.L193L	TRIM55_ENST00000353317.5_Silent_p.L193L|TRIM55_ENST00000350034.4_Silent_p.L193L|TRIM55_ENST00000276573.7_Silent_p.L193L	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	193						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TCAGCCAGCTGGAAGACACCT	0.522000													19	51					0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324774	3324774	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:3324774G>A	ENST00000291231.1	+	1	913	c.913G>A	c.(913-915)Gat>Aat	p.D305N		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CAGAAATACTGATGTTCAGGG	0.502000													27	89					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010864	59010864	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:59010864G>A	ENST00000263093.2	-	7	1771	c.1662C>T	c.(1660-1662)acC>acT	p.T554T	SLC27A5_ENST00000601355.1_Silent_p.T470T	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGGACCGGAAGGTGTCCCCGA	0.657000													12	40					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747855	143747855	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:143747855G>A	ENST00000408906.2	+	1	395	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GATGTCCTACGATCGGTACAT	0.468000													85	208					0	0	1	0	0
RHBDD1	84236	broad.mit.edu	37	2	227729501	227729501	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:227729501C>T	ENST00000392062.2	+	4	616	c.92C>T	c.(91-93)aCc>aTc	p.T31I	RHBDD1_ENST00000341329.3_Missense_Mutation_p.T31I	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	31						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CCACCTGTCACCCTAGCAACT	0.448000													49	138					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7218091	7218091	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:7218091G>A	ENST00000361972.4	-	17	1935	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	SFMBT2_ENST00000397167.1_Silent_p.I615I	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	615					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ATGTCCGTACGATTTTGACCA	0.453000													31	81					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450470	158450470	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:158450470T>G	ENST00000368152.1	+	1	803	c.803T>G	c.(802-804)gTt>gGt	p.V268G	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTCAGTGTTGTTATTGTTCAT	0.483000													21	71					0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35797857	35797857	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:35797857C>T	ENST00000394395.2	+	5	384	c.211C>T	c.(211-213)Ctt>Ttt	p.L71F	TADA2A_ENST00000225396.6_Missense_Mutation_p.L71F|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000417170.1_Missense_Mutation_p.L71F|TADA2A_ENST00000586023.1_Missense_Mutation_p.L71F	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	71	SANT.				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						TTTTCCTGTCCTTGATCCCAG	0.458000													28	66					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139153476	139153476	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:139153476C>T	ENST00000395297.1	-	17	3925	c.3755G>A	c.(3754-3756)gGa>gAa	p.G1252E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1252								p.G1252V(2)|p.G1252E(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTACAGGGTTCCCAGGTGAGG	0.537000										HNSCC(54;0.14)			18	49					0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124489198	124489198	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:124489198G>A	ENST00000284288.2	+	4	613	c.546G>A	c.(544-546)cgG>cgA	p.R182R		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	182					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCAGGGCTCGGAAAGAACGAT	0.478000													20	63					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	533336	533336	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:533336G>A	ENST00000417302.1	-	5	660	c.473C>T	c.(472-474)tCc>tTc	p.S158F	HRAS_ENST00000397594.1_Missense_Mutation_p.S158F|HRAS_ENST00000451590.1_Intron|HRAS_ENST00000311189.7_Intron|HRAS_ENST00000397596.2_Intron	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	0					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCGGAGCTGGAGCTAGAGCC	0.726000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			11	34					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163693142	163693142	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:163693142C>T	ENST00000332142.5	-	2	311	c.212G>A	c.(211-213)gGa>gAa	p.G71E	KCNH7_ENST00000328032.4_Missense_Mutation_p.G71E	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	71					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGTCTCGGGTCCATGGAGAAA	0.483000													11	27					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138394392	138394392	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:138394392G>A	ENST00000310018.2	-	21	2688	c.2406C>T	c.(2404-2406)ttC>ttT	p.F802F	ATP6V0A4_ENST00000353492.4_Silent_p.F802F|ATP6V0A4_ENST00000393054.1_Silent_p.F802F	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	802					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGGCGTGCAGGAAAGCAGAGA	0.567000													54	180					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50835719	50835719	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:50835719G>A	ENST00000395562.2	+	8	1222	c.753G>A	c.(751-753)ttG>ttA	p.L251L	CHAT_ENST00000455728.2_Silent_p.L215L|CHAT_ENST00000395559.2_Silent_p.L215L|CHAT_ENST00000339797.1_Silent_p.L215L|CHAT_ENST00000337653.2_Silent_p.L333L|CHAT_ENST00000351556.3_Silent_p.L215L	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	333					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TCACTCAGTTGAGAAAGATAG	0.522000													52	137					0	0	1	0	0
LEFTY1	10637	broad.mit.edu	37	1	226075716	226075716	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:226075716G>A	ENST00000432920.2	-	6	759	c.592C>T	c.(592-594)Cct>Tct	p.P198S	LEFTY1_ENST00000272134.5_Silent_p.F89F|LEFTY1_ENST00000492457.1_5'UTR																							CCAACGCCAGGAACCTGCCGG	0.692000													4	14					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74077385	74077385	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:74077385G>A	ENST00000334586.5	+	6	654	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	191					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CCAGGCCCACGTGGTGAACGA	0.552000													57	127					0	0	1	0	0
AQP12B	653437	broad.mit.edu	37	2	241622144	241622144	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:241622144G>A	ENST00000407834.3	-	1	173	c.111C>T	c.(109-111)ttC>ttT	p.F37F		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	37						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCTCCCGGGCGAAGACTTCAT	0.672000													17	100					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250778	35250778	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:35250778G>A	ENST00000329285.7	-	4	1301	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CATAAAAAGGGTTTTTCTCGA	0.418000													33	113					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057629	152057629	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:152057629G>A	ENST00000368806.1	-	3	2593	c.2529C>T	c.(2527-2529)atC>atT	p.I843I		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	843							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AACAATCTGAGATCTCACTGG	0.483000													42	112					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160953678	160953678	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:160953678G>A	ENST00000447678.1	-	39	5966	c.5846C>T	c.(5845-5847)aCc>aTc	p.T1949I	LPA_ENST00000316300.5_Missense_Mutation_p.T1949I|LPA_ENST00000484276.1_Intron	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4457	Kringle 17.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTCCCAAAGGTACCTGTGTT	0.453000													11	46					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141731573	141731573	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:141731573G>A	ENST00000475668.2	+	13	1618	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K	MGAM_ENST00000549489.2_Missense_Mutation_p.E522K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	522	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAATCAAGTAGAGTTTGATGG	0.383000													23	71					0	0	1	0	0
METTL4	64863	broad.mit.edu	37	18	2566951	2566951	+	Silent	SNP	G	G	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:2566951G>T	ENST00000319888.6	-	2	1063	c.265C>A	c.(265-267)Cga>Aga	p.R89R	METTL4_ENST00000574538.1_Silent_p.R89R			Q8N3J2	METL4_HUMAN	methyltransferase like 4	89					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGTTCAGGTCGAAAAACAAAT	0.378000													26	74					9.80776e-20	1.00257e-19	1	1	0
ERN2	10595	broad.mit.edu	37	16	23713503	23713503	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:23713503C>T	ENST00000256797.4	-	11	1485	c.1317G>A	c.(1315-1317)gaG>gaA	p.E439E	ERN2_ENST00000457008.2_Silent_p.E391E	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	391					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCTGGGTATTCTCTGGAGGTC	0.617000													44	79					0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15516110	15516110	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:15516110T>C	ENST00000455584.2	-	11	2000	c.1957A>G	c.(1957-1959)Aat>Gat	p.N653D	CDRT1_ENST00000395906.3_Missense_Mutation_p.N343D																							TTGGCATAATTAGGATCAATT	0.418000													42	82					0	0	1	0	0
SPRR2E	6704	broad.mit.edu	37	1	153066218	153066218	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:153066218G>A	ENST00000368751.1	-	2	84	c.10C>T	c.(10-12)Caa>Taa	p.Q4*	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Nonsense_Mutation_p.Q4*			P22531	SPR2E_HUMAN	small proline-rich protein 2E	4					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGCTGTTGATAAGACATC	0.542000													36	70					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47046714	47046714	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:47046714C>T	ENST00000450053.3	+	40	6642	c.6463C>T	c.(6463-6465)Cac>Tac	p.H2155Y	NBEAL2_ENST00000383740.2_Missense_Mutation_p.H434Y|NBEAL2_ENST00000292309.5_Missense_Mutation_p.H1971Y	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2155	BEACH.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGACAAGTTCCACTATGGCAC	0.602000													16	49					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144835047	144835047	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:144835047C>T	ENST00000367545.3	+	35	4947	c.4947C>T	c.(4945-4947)aaC>aaT	p.N1649N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1649	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTTGTAGAACCATCAGAACC	0.323000													21	54					0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120446608	120446608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:120446608G>A	ENST00000222747.3	-	7	1214	c.607C>T	c.(607-609)Caa>Taa	p.Q203*	TSPAN12_ENST00000415871.1_Nonsense_Mutation_p.Q203*	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	203					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CTCACCTCTTGATAAAGGTCA	0.398000													14	34					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814238	137814238	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:137814238G>A	ENST00000409968.1	+	3	566	c.388G>A	c.(388-390)Gag>Aag	p.E130K	THSD7B_ENST00000272643.3_Missense_Mutation_p.E130K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E99K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCGGACTGCAGAGTGTGTGAC	0.537000													29	79					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436215	248436215	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:248436215C>T	ENST00000318021.2	-	1	923	c.902G>A	c.(901-903)cGg>cAg	p.R301Q		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCCAGCCACCGTTTCAGGGC	0.438000													136	159					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139824491	139824491	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:139824491G>A	ENST00000397560.2	-	7	1078	c.981C>T	c.(979-981)ttC>ttT	p.F327F	JHDM1D_ENST00000006967.5_Silent_p.F327F	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		327	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TATCTCCAAAGAACACCTCAC	0.393000													21	47					0	0	1	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150569882	150569882	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:150569882G>A	ENST00000361131.4	+	4	541	c.423_splice	c.e4-1	p.E142_splice		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	142					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		TCTCTTTTAGGAATTTATCAA	0.383000													8	42					0	0	1	0	0
C15orf60	283677	broad.mit.edu	37	15	73832829	73832829	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:73832829G>A	ENST00000331090.6	+	3	281	c.253G>A	c.(253-255)Ggg>Agg	p.G85R	C15orf60_ENST00000560581.1_Intron	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60	85										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GTTTCAGGAAGGGTTTTCACT	0.358000													66	188					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266157	3266157	+	RNA	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:3266157C>T	ENST00000576468.1	+	0	418																											TGTGACTCCCCTCCTGAAACT	0.532000													15	46					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57330038	57330038	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:57330038G>A	ENST00000326441.9	-	8	1065	c.702C>T	c.(700-702)ctC>ctT	p.L234L	ZIM2_ENST00000391708.3_Silent_p.L109L|PEG3_ENST00000593695.1_Silent_p.L108L|ZIM2_ENST00000593711.1_Silent_p.L109L|PEG3_ENST00000423103.2_Silent_p.L234L|PEG3_ENST00000598410.1_Silent_p.L109L|ZIM2_ENST00000601070.1_Silent_p.L109L|ZIM2_ENST00000599935.1_Silent_p.L109L|ZIM2_ENST00000221722.5_Silent_p.L109L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	234					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGTCCTCAGCGAGGTCCACCA	0.478000													29	86					0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187680	58187680	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:58187680C>T	ENST00000318203.5	+	3	864	c.167C>T	c.(166-168)tCa>tTa	p.S56L		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	56	SCAN box.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGCAATAATTCATATGCAAGG	0.403000													28	92					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193220362	193220362	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:193220362A>T	ENST00000342695.4	-	3	623	c.301T>A	c.(301-303)Ttt>Att	p.F101I	ATP13A4_ENST00000392443.3_Missense_Mutation_p.F101I|ATP13A4_ENST00000295548.3_Missense_Mutation_p.F101I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	101					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GTGAGACCAAATGCGCTGTTT	0.403000													35	85					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540286	55540286	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:55540286C>T	ENST00000220676.1	+	4	3992	c.3844C>T	c.(3844-3846)Cct>Tct	p.P1282S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1282					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CACTTTTTTTCCTAGTGATGG	0.408000													79	145					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32241212	32241212	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:32241212C>T	ENST00000400246.1	+	30	3152	c.3010C>T	c.(3010-3012)Cgc>Tgc	p.R1004C	DEPDC5_ENST00000382112.3_Missense_Mutation_p.R995C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R926C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R1004C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1004C|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R995C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R995C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R926C			O75140	DEPD5_HUMAN	DEP domain containing 5	995					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCGCTCGGATCGCATGATGCG	0.602000													7	24					0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945062	55945062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:55945062C>T	ENST00000394256.2	+	1	80	c.52C>T	c.(52-54)Caa>Taa	p.Q18*	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCTTACAAATCAACCTGAACT	0.388000													46	131					0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127253124	127253124	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:127253124C>T	ENST00000341640.2	-	6	848	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	PAX4_ENST00000463946.1_Missense_Mutation_p.A213T|PAX4_ENST00000338516.3_Missense_Mutation_p.A223T|PAX4_ENST00000378740.2_Missense_Mutation_p.A215T	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	223					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGCCATTTGGCTCTTCTGTTG	0.527000													14	54					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142445269	142445269	+	RNA	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:142445269C>T	ENST00000606664.1	+	0	625				MROH5_ENST00000430863.1_RNA																							GGCCCCTCTCCCAGGCCAGCG	0.677000													7	20					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35873639	35873639	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:35873639G>A	ENST00000303115.3	+	5	724	c.595G>A	c.(595-597)Gca>Aca	p.A199T	IL7R_ENST00000343305.4_Missense_Mutation_p.A199T|IL7R_ENST00000506850.1_Missense_Mutation_p.A199T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	199	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCAACCGGCAGCAATGTATGA	0.423000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						22	54					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254940	24254940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:24254940C>T	ENST00000538205.1	+	7	908	c.361C>T	c.(361-363)Cga>Tga	p.R121*	ADAMDEC1_ENST00000256412.4_Nonsense_Mutation_p.R200*|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Nonsense_Mutation_p.R121*|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	200			M -> T (in dbSNP:rs7007084).		integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGCCCAATTCGAATCTCTAG	0.433000													69	145					0	0	1	0	0
FCGRT	2217	broad.mit.edu	37	19	50027944	50027944	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:50027944C>T	ENST00000221466.5	+	5	1268	c.782C>T	c.(781-783)tCg>tTg	p.S261L	FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Missense_Mutation_p.S261L|FCGRT_ENST00000596975.1_Missense_Mutation_p.S169L	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	261	Alpha-3.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CACGCCTCGTCGTCACTAACA	0.652000													13	49					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69320665	69320665	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:69320665G>A	ENST00000260364.5	+	4	532	c.231G>A	c.(229-231)atG>atA	p.M77I	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000530406.2_Missense_Mutation_p.M95I|NOX5_ENST00000448182.3_Missense_Mutation_p.M77I|NOX5_ENST00000388866.3_Missense_Mutation_p.M95I|NOX5_ENST00000455873.3_Missense_Mutation_p.M88I			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	95	EF-hand 2.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCAGCCCCATGGACAAACTCA	0.557000													39	100					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179361	55179361	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:55179361C>T	ENST00000391736.1	+	14	1553	c.1238C>T	c.(1237-1239)gCc>gTc	p.A413V	LILRB4_ENST00000391734.3_Missense_Mutation_p.A360V|LILRB4_ENST00000270452.2_Missense_Mutation_p.A413V|LILRB4_ENST00000430952.2_Missense_Mutation_p.A412V|LILRB4_ENST00000391733.3_Missense_Mutation_p.A414V	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	413						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GTGACCTACGCCCAGCTGCAC	0.652000													33	80					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154320906	154320906	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:154320906C>T	ENST00000368489.3	+	27	3285	c.3285C>T	c.(3283-3285)gcC>gcT	p.A1095A		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1081					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACACCTTGGCCCAGCCCACGG	0.587000													14	32					0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99917271	99917271	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:99917271G>A	ENST00000373004.3	+	4	690	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	88	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CACGCGTTGTGAGCTCTCCTG	0.537000													63	60					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61847958	61847958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:61847958G>A	ENST00000280772.1	-	29	3678	c.3487C>T	c.(3487-3489)Caa>Taa	p.Q1163*	ANK3_ENST00000373827.2_Nonsense_Mutation_p.Q1157*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.Q1164*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.Q297*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1163					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAAGATGCTTGAACAAGGGGC	0.488000													31	88					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127640772	127640772	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:127640772G>A	ENST00000508053.1	-	51	6651	c.5677C>T	c.(5677-5679)Cgc>Tgc	p.R1893C	FBN2_ENST00000262464.4_Missense_Mutation_p.R1893C			P35556	FBN2_HUMAN	fibrillin 2	1893	EGF-like 31; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R1893C(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATTCATTGCGATCTAAAACA	0.323000													9	19					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594547	179594547	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:179594547C>T	ENST00000589042.1	-	63	18657	c.18433G>A	c.(18433-18435)Gaa>Aaa	p.E6145K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4901K|TTN_ENST00000591111.1_Missense_Mutation_p.E5828K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5828	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGTTATTTCATTCCCGTCT	0.428000													26	68					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60781435	60781435	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:60781435C>T	ENST00000313421.7	+	8	1522	c.1336C>T	c.(1336-1338)Ccg>Tcg	p.P446S	CD6_ENST00000346437.4_Intron|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000344028.5_Intron|CD6_ENST00000452451.2_Missense_Mutation_p.P446S|CD6_ENST00000352009.5_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	446					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CACCACCATCCCGGCAGGGAG	0.572000													10	35					0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105816884	105816884	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:105816884G>A	ENST00000369110.3	-	6	803	c.611C>T	c.(610-612)aCc>aTc	p.T204I		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	204					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GTGGAGATTGGTAGATGTCTC	0.393000													36	75					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43269007	43269007	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:43269007G>A	ENST00000290650.4	-	39	4355	c.4277C>T	c.(4276-4278)cCt>cTt	p.P1426L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1426					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AACTGAAGAAGGCTGCAGATC	0.413000													16	41					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576937	28576937	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:28576937C>T	ENST00000434452.1	-	15	2467	c.2313G>A	c.(2311-2313)atG>atA	p.M771I	DSC3_ENST00000360428.4_Missense_Mutation_p.M771I	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	771					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTCCATTTTTCATTCCTGATC	0.443000													17	46					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21348405	21348405	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:21348405G>A	ENST00000215739.8	+	14	1821	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.E469K	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	488	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCTGGAGCAGGAGGCCGCCCC	0.726000													3	11					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39646194	39646194	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:39646194C>T	ENST00000265708.4	-	8	739	c.636G>A	c.(634-636)acG>acA	p.T212T	ADAM2_ENST00000347580.4_Silent_p.T193T|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Silent_p.T212T	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	212	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTACAGCATTCGTCAATCCAA	0.318000													12	35					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364133	5364133	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:5364133C>T	ENST00000300773.2	-	1	676	c.622G>A	c.(622-624)Gat>Aat	p.D208N	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCAGATAATCCAGCACAAAT	0.468000													28	87					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10261117	10261117	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:10261117C>T	ENST00000418404.3	-	7	836	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	MYH13_ENST00000252172.4_Missense_Mutation_p.A225T|MYH13_ENST00000570743.1_Missense_Mutation_p.A225T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	225	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGTGGGTTGGCCTGGATGATC	0.443000													31	72					0	0	1	0	0
MAS1	4142	broad.mit.edu	37	6	160327991	160327991	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:160327991G>A	ENST00000252660.4	+	1	18	c.4G>A	c.(4-6)Gat>Aat	p.D2N		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	2					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		CCTCCTCATGGATGGGTCAAA	0.438000													22	64					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193158409	193158409	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:193158409G>A	ENST00000342695.4	-	21	2779	c.2457C>T	c.(2455-2457)acC>acT	p.T819T	ATP13A4_ENST00000392443.3_Silent_p.T800T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	819					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTGCAAAGATGGTCCCATTGA	0.408000													19	35					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272868	52272868	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:52272868C>T	ENST00000598776.1	+	2	1729	c.957C>T	c.(955-957)acC>acT	p.T319T	FPR2_ENST00000340023.6_Silent_p.T319T|FPR2_ENST00000598953.1_Silent_p.T319T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	319					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CCCTGCCCACCAGTCTGGAGA	0.562000													36	84					0	0	1	0	0
HAUS8	93323	broad.mit.edu	37	19	17163670	17163670	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:17163670C>T	ENST00000593360.1	-	9	2729	c.711G>A	c.(709-711)aaG>aaA	p.K237K	HAUS8_ENST00000448593.2_Silent_p.K297K|CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000253669.5_Silent_p.K298K			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	298					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CCGTCACGTCCTTGAGTTCGC	0.527000											OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	123					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223177774	223177774	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:223177774C>T	ENST00000284476.6	+	8	3199	c.3035C>T	c.(3034-3036)gCc>gTc	p.A1012V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1012					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGCCTTTATGCCATCATTTCA	0.488000													53	135					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138946166	138946166	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:138946166C>T	ENST00000288561.8	+	6	1074	c.825C>T	c.(823-825)ccC>ccT	p.P275P	UBN2_ENST00000473989.2_Silent_p.P358P	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	358	Lys-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TGAATAAACCCCCATGTGCTG	0.473000													30	74					0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6638550	6638550	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:6638550C>G	ENST00000299427.6	-	5	550	c.490G>C	c.(490-492)Gcc>Ccc	p.A164P	TPP1_ENST00000534644.1_5'UTR|TPP1_ENST00000533371.1_5'UTR	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN	tripeptidyl peptidase I	164					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		ACATGGGGGGCCAAGGCCTGT	0.577000													25	72					0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34356258	34356258	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:34356258T>C	ENST00000383263.5	+	3	2010	c.1340T>C	c.(1339-1341)aTt>aCt	p.I447T	CHRM5_ENST00000557872.1_Missense_Mutation_p.I447T	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	447					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CTGAGTGCCATTCTCCTGGCC	0.517000													43	78					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244787	46244787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:46244787C>T	ENST00000334344.6	+	15	3053	c.2881C>T	c.(2881-2883)Cag>Tag	p.Q961*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q812*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q571*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	961	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCAGACAGTTCAGCTAACTGG	0.483000			"""N, S, F"""		hepatocellular carcinoma								40	147					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97532119	97532119	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:97532119G>A	ENST00000305476.5	-	3	291	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	53	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TCAGTGTCAGGAAGTCCTGGA	0.657000													22	76					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127833	152127833	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:152127833G>A	ENST00000316073.3	-	3	1806	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	581	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						AATATAGTGGGAACTCTGGCC	0.463000													176	460					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53185099	53185099	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:53185099C>A	ENST00000417996.2	-	7	1500	c.1426G>T	c.(1426-1428)Gat>Tat	p.D476Y	KRT3_ENST00000309505.3_Missense_Mutation_p.D476Y	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	476	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCCAGGTCATCCTTCGCCTGC	0.622000													44	80					4.16155e-14	4.24582e-14	1	1	0
IL5RA	3568	broad.mit.edu	37	3	3137042	3137042	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:3137042G>A	ENST00000446632.2	-	8	1370	c.796C>T	c.(796-798)Cca>Tca	p.P266S	IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000438560.1_Missense_Mutation_p.P266S|IL5RA_ENST00000383846.1_Missense_Mutation_p.P266S|IL5RA_ENST00000311981.8_Missense_Mutation_p.P266S|IL5RA_ENST00000256452.3_Missense_Mutation_p.P266S|IL5RA_ENST00000430514.2_Missense_Mutation_p.P266S|IL5RA_ENST00000456302.1_Missense_Mutation_p.P266S|IL5RA_ENST00000418488.2_Intron	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	266					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CAATGGATTGGAAAAGCAGAC	0.353000													16	34					0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114014612	114014612	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:114014612C>T	ENST00000481065.1	+	3	3098	c.483C>T	c.(481-483)acC>acT	p.T161T	TIGIT_ENST00000486257.1_Silent_p.T94T|TIGIT_ENST00000383671.3_Silent_p.T94T			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	94					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TGGGCCTCACCCTCCAGTCGC	0.577000													19	65					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594512	179594512	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:179594512G>A	ENST00000589042.1	-	63	18692	c.18468C>T	c.(18466-18468)ttC>ttT	p.F6156F	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.F4912F|TTN_ENST00000591111.1_Silent_p.F5839F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5839	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCATCAATGAAGGAAATGC	0.448000													32	81					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195599264	195599264	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:195599264G>A	ENST00000333602.6	-	10	1951	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	TNK2_ENST00000428187.1_Missense_Mutation_p.S477F|TNK2_ENST00000392400.1_Missense_Mutation_p.S445F|TNK2_ENST00000381916.2_Missense_Mutation_p.S508F|TNK2_ENST00000316664.3_Missense_Mutation_p.S445F	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	445	SH3.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GCCGGCCACGGAGGTCACCAC	0.667000													17	31					0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109309580	109309580	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:109309580G>A	ENST00000299134.5	-	13	1222	c.1223C>T	c.(1222-1224)tCa>tTa	p.S408L		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						ACGGAGTGATGAGAGCACCCA	0.612000													3	13					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	876258	876258	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:876258G>A	ENST00000323510.4	-	9	1052	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	BRD9_ENST00000467963.1_Silent_p.I447I|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000388890.4_Silent_p.I331I|BRD9_ENST00000483173.1_Silent_p.I394I			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	447							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CTCCGCCTGTGATCTGGTCCA	0.637000													16	35					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640125	7640125	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:7640125C>T	ENST00000359156.4	-	8	2082	c.1880G>A	c.(1879-1881)gGa>gAa	p.G627E	CD163_ENST00000541972.1_Missense_Mutation_p.G615E|CD163_ENST00000432237.2_Missense_Mutation_p.G627E|CD163_ENST00000396620.3_Missense_Mutation_p.G660E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	627	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AAGGGCAACTCCACATTTAAG	0.517000													43	108					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36450141	36450141	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:36450141C>T	ENST00000265748.2	+	6	1336	c.1115C>T	c.(1114-1116)cCt>cTt	p.P372L	ANLN_ENST00000396068.2_Missense_Mutation_p.P372L|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	372	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GGAATTAAGCCTTTCCTGGAA	0.383000													22	50					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762771	24762771	+	Silent	SNP	C	C	T	rs143282203	byFrequency	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:24762771C>T	ENST00000376451.2	+	2	875	c.615C>T	c.(613-615)caC>caT	p.H205H	KIAA1217_ENST00000376452.3_Silent_p.H487H|KIAA1217_ENST00000307544.6_Silent_p.H205H|KIAA1217_ENST00000376462.1_Silent_p.H407H|KIAA1217_ENST00000430453.2_Silent_p.H408H|KIAA1217_ENST00000396446.1_Silent_p.H205H|KIAA1217_ENST00000396445.1_Silent_p.H205H|KIAA1217_ENST00000376454.3_Silent_p.H487H|KIAA1217_ENST00000458595.1_Silent_p.H487H			Q5T5P2	SKT_HUMAN	KIAA1217	487					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAGACATGCACGCTCACTATA	0.557000													5	117					0	0	1	0	0
SCPEP1	59342	broad.mit.edu	37	17	55072876	55072876	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:55072876C>T	ENST00000262288.3	+	8	721	c.666C>T	c.(664-666)ctC>ctT	p.L222L		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	222					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AGTCTCTTCTCGAAGACAAAG	0.502000													25	78					0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92509065	92509065	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:92509065G>A	ENST00000371721.3	-	2	1068	c.826C>T	c.(826-828)Cct>Tct	p.P276S	HTR7_ENST00000336152.3_Missense_Mutation_p.P276S|HTR7_ENST00000277874.6_Missense_Mutation_p.P276S|HTR7_ENST00000371719.2_Missense_Mutation_p.P276S			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	276					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GGGAAGCCAGGAAACTTGTGT	0.512000													20	56					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29041173	29041173	+	Silent	SNP	G	G	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:29041173G>C	ENST00000282397.4	-	3	506	c.255C>G	c.(253-255)ggC>ggG	p.G85G	FLT1_ENST00000541932.1_Silent_p.G85G|FLT1_ENST00000539099.1_Silent_p.G85G	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	85	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGAATTGTTTGCCATTTCTTC	0.443000													35	97					0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53853379	53853379	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:53853379C>T	ENST00000331251.3	+	1	2389	c.912C>T	c.(910-912)ccC>ccT	p.P304P		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	304					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCCTCAACCCCTTCCTCTACG	0.657000													15	38					0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139038760	139038760	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:139038760C>T	ENST00000370540.1	-	3	404	c.381G>A	c.(379-381)agG>agA	p.R127R		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	127	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GTGCGGATGCCCTTTCTGGAC	0.448000													81	110					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135920396	135920396	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:135920396C>T	ENST00000264158.8	+	21	2508	c.2465C>T	c.(2464-2466)cCc>cTc	p.P822L	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.P778L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.P822L|ZRANB3_ENST00000412849.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	822						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTGCACTTCCCCAATCCAGAA	0.338000													27	81					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55591294	55591294	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:55591294C>T	ENST00000373965.2	-	31	4399		c.e31-1		PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000463095.1_Splice_Site|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15						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)				ATCCAAAAATCTTTATTGTTA	0.338000										HNSCC(58;0.16)			11	35					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17415849	17415849	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:17415849G>A	ENST00000302539.4	-	37	4637	c.4512C>T	c.(4510-4512)atC>atT	p.I1504I	ABCC8_ENST00000389817.3_Silent_p.I1503I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1503	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCTCGTCCATGATGAAGATGC	0.587000													32	74					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71950406	71950406	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:71950406C>T	ENST00000266674.5	+	6	963	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	LGR5_ENST00000540815.2_Missense_Mutation_p.H218Y|LGR5_ENST00000536515.1_Missense_Mutation_p.H146Y			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	218						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CAGACATCTCCATAACAATAG	0.388000													26	87					0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34475465	34475465	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:34475465C>T	ENST00000241052.4	+	6	792	c.703C>T	c.(703-705)Cat>Tat	p.H235Y		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	235					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TTGCAAATTCCATTATAAGGT	0.443000													22	52					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228802	57228802	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:57228802C>T	ENST00000396721.2	-	2	235	c.105G>A	c.(103-105)cgG>cgA	p.R35R	SDR16C5_ENST00000522671.1_Silent_p.R35R|SDR16C5_ENST00000303749.3_Silent_p.R35R			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	35					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CAACGTTCTTCCGTGGCTTTG	0.458000													30	98					0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48318136	48318136	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:48318136C>T	ENST00000376876.3	-	14	2038	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	SLC38A5_ENST00000317669.5_Missense_Mutation_p.D399N|SLC38A5_ENST00000376875.1_Missense_Mutation_p.D348N|SLC38A5_ENST00000480105.1_5'UTR			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	399					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CCAAAGATATCCCGGATGGTT	0.517000													8	26					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119729076	119729076	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:119729076G>A	ENST00000541757.1	+	5	572	c.190_splice	c.e5-1	p.G64_splice	MARCO_ENST00000327097.4_Splice_Site_p.G142_splice			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	142					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCCTTGCAGGGATGTTCAGAA	0.587000													35	72					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93118658	93118658	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:93118658G>A	ENST00000298050.3	+	8	984	c.884G>A	c.(883-885)aGa>aAa	p.R295K	CCDC67_ENST00000525646.1_Missense_Mutation_p.R37K	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	295										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CAATTACACAGAGAATTATTA	0.348000													9	33					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111138100	111138100	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:111138100C>T	ENST00000360467.5	+	34	3430	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1042	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CATCGGAGTCCCCGGCATCCC	0.617000													28	52					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1592124	1592124	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:1592124G>A	ENST00000279477.7	-	2	376	c.312C>T	c.(310-312)tcC>tcT	p.S104S	SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000568365.1_Silent_p.S104S|SIRPB1_ENST00000381603.3_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	104	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGATGCGGATGGAAAAGTCCA	0.512000													33	52					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516963	192516963	+	Missense_Mutation	SNP	G	G	A	rs143060400	byFrequency	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:192516963G>A	ENST00000392452.2	-	2	1008	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	230										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TACAACATGCGACTACTCCCT	0.473000													22	67					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62462739	62462739	+	Translation_Start_Site	SNP	T	T	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:62462739T>G	ENST00000430451.2	+	1	199	c.2T>G	c.(1-3)aTg>aGg	p.M1R	SYT16_ENST00000446982.2_Start_Codon_SNP_p.M1R	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	1										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TAGCTGGCCATGGTGTTGGCC	0.443000													10	35					0	0	1	0	0
C8orf31	286122	broad.mit.edu	37	8	144124457	144124457	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:144124457G>A	ENST00000395172.1	+	2	391	c.39G>A	c.(37-39)gtG>gtA	p.V13V	C8orf31_ENST00000517653.1_Intron	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	13										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCAATTCAGTGAGGCAGCTCT	0.602000													26	76					0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22826270	22826270	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:22826270G>A	ENST00000261374.3	+	1	773	c.339G>A	c.(337-339)cgG>cgA	p.R113R		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	113						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GTACCAAGCGGTTGCCCCAAG	0.711000													10	10					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2139840	2139840	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:2139840C>T	ENST00000262304.4	-	46	13008	c.12800G>A	c.(12799-12801)cGg>cAg	p.R4267Q	PKD1_ENST00000423118.1_Missense_Mutation_p.R4266Q	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4267					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGTGCTGGCCGCAGGCCCGG	0.726000													4	8					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14307405	14307405	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:14307405G>A	ENST00000571589.1	+	6	452	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	MKL2_ENST00000573051.1_Missense_Mutation_p.E43K|MKL2_ENST00000318282.5_Missense_Mutation_p.E94K|MKL2_ENST00000572567.1_Missense_Mutation_p.E83K|MKL2_ENST00000341243.5_Missense_Mutation_p.E83K|MKL2_ENST00000574045.1_Missense_Mutation_p.E94K	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	83					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTAAAGACTGAAAACTTTTT	0.294000													16	50					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19573100	19573100	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:19573100G>A	ENST00000409832.3	+	8	1250	c.1197_splice	c.e8-1	p.E400_splice		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	400										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCATCTGCAGGAAATGTCTCA	0.284000													8	163					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758871	121758871	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:121758871G>A	ENST00000261367.7	+	6	2008	c.580G>A	c.(580-582)Gac>Aac	p.D194N	SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.D147N|SNCAIP_ENST00000379536.2_Missense_Mutation_p.D147N|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.D194N|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.D194N			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	147					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGAGCACTACGACCTCGACAT	0.537000													31	85					0	0	1	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142119937	142119937	+	RNA	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:142119937G>A	ENST00000390377.1	-	0	229																											GGGCAGCCCTGATTTGTCTGG	0.532000													20	63					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324664	31324664	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:31324664G>A	ENST00000269197.5	+	12	4852	c.4852G>A	c.(4852-4854)Gga>Aga	p.G1618R		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAGGAGCACAGGACAGCCTCT	0.443000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	15					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868628	150868628	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:150868628G>A	ENST00000370353.3	+	3	558	c.168_splice	c.e3+1	p.T56_splice	PRRG3_ENST00000370354.1_Silent_p.T64T|PRRG3_ENST00000538575.1_Splice_Site_p.T56_splice			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	56	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGAAAACGGCATGTACCA	0.542000													26	32					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223991036	223991036	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:223991036G>A	ENST00000391878.2	-	8	1149	c.381C>T	c.(379-381)atC>atT	p.I127I	TP53BP2_ENST00000343537.7_Silent_p.I256I	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	250					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GGTGGCTGTCGATCCTGCCGT	0.498000													36	88					0	0	1	0	0
NME6	10201	broad.mit.edu	37	3	48336288	48336288	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:48336288C>A	ENST00000421967.1	-	6	469	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L	NME6_ENST00000442597.1_Missense_Mutation_p.V134L|NME6_ENST00000426689.2_Missense_Mutation_p.V134L|NME6_ENST00000452211.1_Missense_Mutation_p.V134L|NME6_ENST00000415053.1_Missense_Mutation_p.V134L|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000451657.1_Silent_p.L120L|NME6_ENST00000447314.1_Missense_Mutation_p.V89L|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000450160.1_Silent_p.L120L|NME6_ENST00000435684.1_Silent_p.L120L|NME6_ENST00000426723.1_Missense_Mutation_p.V67L|NME6_ENST00000415644.1_Missense_Mutation_p.V67L	NM_005793.3	NP_005784.1	O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	134					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCTGAAACCACAGAGTCTGTA	0.527000													15	57					6.72482e-11	6.815e-11	1	1	0
MUC16	94025	broad.mit.edu	37	19	9060020	9060020	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:9060020G>A	ENST00000397910.4	-	3	27629	c.27426C>T	c.(27424-27426)agC>agT	p.S9142S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9144	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						AAGAGGCAGAGCTGGCTTCTT	0.493000													14	73					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848865	73848865	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:73848865G>A	ENST00000523207.1	+	3	1863	c.1275G>A	c.(1273-1275)aaG>aaA	p.K425K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	425					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGTTTTACAAGGAGCAGAAAC	0.438000													25	102					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179452321	179452321	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:179452321G>A	ENST00000367618.3	+	18	2443	c.2056G>A	c.(2056-2058)Gaa>Aaa	p.E686K	AL160286.1_ENST00000600581.1_Intron|AXDND1_ENST00000457238.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	686										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GATAGGCAATGAAATTAACAA	0.353000													30	61					0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45107923	45107923	+	Silent	SNP	G	G	A	rs34580302		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:45107923G>A	ENST00000340648.4	+	13	1785	c.1668G>A	c.(1666-1668)gaG>gaA	p.E556E		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	556					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GCCCCGCAGAGGGGGCGAACA	0.667000													22	32					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706813	96706813	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:96706813G>A	ENST00000389672.5	+	3	1128	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	EPHA6_ENST00000542517.1_Missense_Mutation_p.E270K|EPHA6_ENST00000470610.2_Missense_Mutation_p.E364K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	269	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TACAGGATATGAAGAAATTGA	0.343000													24	64					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654550	46654550	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:46654550G>A	ENST00000253255.5	-	1	4669	c.4670C>T	c.(4669-4671)tCc>tTc	p.S1557F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1557					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCCTTTTGGGAAGGGTGCTG	0.453000													59	139					0	0	1	0	0
SPANXD	64648	broad.mit.edu	37	X	140785745	140785745	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:140785745C>T	ENST00000370515.3	-	2	504	c.171G>A	c.(169-171)agG>agA	p.R57R		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TTTTAAAGTTCCTCCTGTAGC	0.483000													93	154					0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905602	15905602	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:15905602G>A	ENST00000308940.8	+	1	842	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						ACCTCACTGTGGTGGTCGTGC	0.567000													30	78					0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	736958	736958	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:736958C>T	ENST00000293883.4	-	3	1877	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q	WDR24_ENST00000248142.6_Missense_Mutation_p.R503Q	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	503										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GGGGTGGCGCCGGTCGCCAGT	0.682000													12	17					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126239578	126239578	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:126239578C>T	ENST00000394329.3	+	1	2025	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	671	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCCCAGTCATCAATGGCTCGC	0.488000													25	87					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172501885	172501885	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:172501885C>T	ENST00000367723.3	+	1	397	c.273C>T	c.(271-273)ggC>ggT	p.G91G		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		TTCTGGAAGGCAAACTACAAC	0.537000													18	35					0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46058647	46058647	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:46058647C>T	ENST00000536708.2	+	13	1586	c.1477C>T	c.(1477-1479)Ctg>Ttg	p.L493L	CDK5RAP3_ENST00000578663.1_3'UTR|RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000338399.4_Silent_p.L468L	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	468					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GCAGGCGGCTCTGGAGCCTAA	0.572000													19	44					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114397547	114397547	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:114397547G>A	ENST00000359785.5	-	8	800	c.665C>T	c.(664-666)cCc>cTc	p.P222L	PTPN22_ENST00000538253.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.P222L|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.P222L|PTPN22_ENST00000460620.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	222	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGCATATGGGAACACTGTC	0.418000													61	94					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323552	29323552	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:29323552A>G	ENST00000377154.1	-	4	720	c.421T>C	c.(421-423)Tgc>Cgc	p.C141R	OR5V1_ENST00000543825.1_Missense_Mutation_p.C141R			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATTGATTGCATAGAACCTTG	0.448000													21	88					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101490417	101490417	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:101490417C>T	ENST00000392979.3	+	18	2098	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	ANO4_ENST00000550015.1_Silent_p.F134F|ANO4_ENST00000299222.9_Silent_p.F134F|ANO4_ENST00000392977.3_Silent_p.F614F	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	614						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCGCATTCTTCCTCGGAAGGT	0.507000										HNSCC(74;0.22)			24	65					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670162	8670162	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:8670162G>A	ENST00000270328.4	-	3	436	c.170C>T	c.(169-171)tCg>tTg	p.S57L	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.S57L			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	57					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGGAGGTGGCGAGAAGGCCAG	0.662000													11	19					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13885216	13885216	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:13885216G>A	ENST00000265104.4	-	19	2969	c.2865C>T	c.(2863-2865)gcC>gcT	p.A955A	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	955	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTAACTCGCGGGCTTCTTCCC	0.443000									Kartagener syndrome				28	73					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137688727	137688727	+	Missense_Mutation	SNP	C	C	T	rs141301771		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:137688727C>T	ENST00000371817.3	+	36	3292	c.2878C>T	c.(2878-2880)Cct>Tct	p.P960S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	960	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P960S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CACAGGATTTCCTGGACCAAA	0.597000													16	42					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87362404	87362404	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:87362404C>T	ENST00000327946.7	-	16	2741	c.2656G>A	c.(2656-2658)Gaa>Aaa	p.E886K	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.E457K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	886						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCAATGTCTTCATCCATGAGG	0.587000										Multiple Myeloma(13;0.14)			9	16					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650710	55650710	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:55650710C>T	ENST00000339140.3	+	1	878	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	189					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CAAGAGAAGTCCTGGCAAAGG	0.498000													32	41					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82937003	82937003	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:82937003A>T	ENST00000306270.7	-	5	1109	c.560T>A	c.(559-561)tTt>tAt	p.F187Y	IBTK_ENST00000503631.1_Missense_Mutation_p.F187Y|IBTK_ENST00000510291.1_Missense_Mutation_p.F187Y	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	187					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CACGGAGTGAAATTTACAAAG	0.353000													19	57					0	0	1	0	0
TRAV8-3	28683	broad.mit.edu	37	14	22321169	22321169	+	RNA	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:22321169C>T	ENST00000390435.1	+	0	327																											CTGAGTACTTCTGTGCTGTGG	0.478000													20	60					0	0	1	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340039	29340039	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:29340039G>A	ENST00000269205.5	-	1	804	c.616C>T	c.(616-618)Ccc>Tcc	p.P206S	SLC25A52_ENST00000579441.2_Missense_Mutation_p.P196S	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	196					transport	integral to membrane|mitochondrial inner membrane											TCCTTAATGGGACCTCGAAGG	0.478000													32	112					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32210981	32210981	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:32210981C>T	ENST00000346541.3	+	6	1135	c.598C>T	c.(598-600)Cca>Tca	p.P200S	CBFA2T2_ENST00000375279.2_Missense_Mutation_p.P200S|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.P191S|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.P171S|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.P171S|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.P171S|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.P210S	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	200	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P191T(1)|p.P200T(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CAAGCAGACCCCATCCCAGTA	0.587000													27	66					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72153752	72153752	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:72153752G>A	ENST00000537465.1	-	20	3178	c.3020C>T	c.(3019-3021)cCg>cTg	p.P1007L	PMFBP1_ENST00000237353.10_Missense_Mutation_p.P1002L|PMFBP1_ENST00000537792.1_Intron|PMFBP1_ENST00000355636.6_Missense_Mutation_p.P877L			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	1007										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGACGTACCCGGGCAGTGGGG	0.473000													22	65					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117639383	117639383	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:117639383C>T	ENST00000368508.3	-	37	6171	c.5973G>A	c.(5971-5973)aaG>aaA	p.K1991K	GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Silent_p.K1985K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1991	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGAATTCAATCTTCTCCTGGT	0.393000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								10	37					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344629	56344629	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:56344629G>A	ENST00000526812.2	-	1	634	c.569C>T	c.(568-570)tCt>tTt	p.S190F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ACGGGTGTCAGAGCAGGCCAG	0.443000													24	65					0	0	1	0	0
ULBP2	80328	broad.mit.edu	37	6	150267668	150267668	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:150267668A>T	ENST00000367351.3	+	3	583	c.510A>T	c.(508-510)gaA>gaT	p.E170D		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	170	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		AGATGAAAGAAAAGTGGGAGA	0.473000													50	158					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123336636	123336636	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:123336636G>A	ENST00000296513.2	+	11	1537	c.1352G>A	c.(1351-1353)aGa>aAa	p.R451K	ADAD1_ENST00000388725.2_Missense_Mutation_p.R433K|ADAD1_ENST00000388724.2_Missense_Mutation_p.R440K	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	451	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTAGTCAACAGACCTCATATT	0.388000													49	151					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39070699	39070699	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:39070699C>T	ENST00000355481.4	+	99	14558	c.14427C>T	c.(14425-14427)ctC>ctT	p.L4809L	RYR1_ENST00000359596.3_Silent_p.L4814L|RYR1_ENST00000360985.3_Silent_p.L4809L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4814					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGCCCATCTCCTGGACATCG	0.597000													37	75					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769019	57769019	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:57769019C>T	ENST00000371030.2	+	1	2945	c.2945C>T	c.(2944-2946)tCa>tTa	p.S982L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	982						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTTGTTGGGTCAGGACTGGGG	0.637000													25	61					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141726990	141726990	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:141726990G>A	ENST00000475668.2	+	9	1112	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	MGAM_ENST00000549489.2_Missense_Mutation_p.G353E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	353	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.G353E(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGTTCTTGGGAAACACTCCA	0.398000													29	79					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777273	123777273	+	Missense_Mutation	SNP	G	G	A	rs150490501		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:123777273G>A	ENST00000321355.2	+	1	165	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M45I(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		ACCTCAGCATGATCTCAATTA	0.408000													42	105					0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55795218	55795218	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:55795218C>T	ENST00000379665.2	+	1	1005	c.906C>T	c.(904-906)ttC>ttT	p.F302F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTAGGGAATTCACCAAAAAAA	0.353000													18	38					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110302390	110302390	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:110302390G>A	ENST00000369805.3	-	4	394	c.165C>T	c.(163-165)ttC>ttT	p.F55F	EPS8L3_ENST00000361965.4_Silent_p.F55F|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.F55F	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	55						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CATCCATCTCGAACAGCTTCT	0.607000													39	38					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068238	5068238	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:5068238G>A	ENST00000380370.1	+	1	483	c.483G>A	c.(481-483)atG>atA	p.M161I		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACTTCCCATGGTCTATCTTA	0.453000													16	77					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374849	8374849	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:8374849C>T	ENST00000538603.1	-	7	1522	c.964G>A	c.(964-966)Gga>Aga	p.G322R	FAM90A1_ENST00000307435.6_Missense_Mutation_p.G322R	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	322							nucleic acid binding|zinc ion binding	p.G322R(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGCTCACCTCCCTGGATGGCG	0.637000													18	30					0	0	1	0	0
BAG4	9530	broad.mit.edu	37	8	38065149	38065149	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:38065149C>T	ENST00000287322.4	+	3	769	c.498C>T	c.(496-498)tcC>tcT	p.S166S	BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Silent_p.S130S	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	166					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				CCAGTTACTCCACAGAAGTTC	0.527000													25	48					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	716084	716084	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:716084C>T	ENST00000549091.1	+	36	4667	c.4575C>T	c.(4573-4575)ccC>ccT	p.P1525P	WDR90_ENST00000547944.1_Silent_p.P122P|WDR90_ENST00000293879.4_Silent_p.P1523P|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000315764.4_Silent_p.P122P	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1523										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				AGATGCACCCCCACCCGGTGG	0.672000													20	68					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48713417	48713417	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:48713417G>A	ENST00000314191.2	-	72	10106	c.10050C>T	c.(10048-10050)atC>atT	p.I3350I	PRKDC_ENST00000338368.3_Silent_p.I3350I|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3351	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGTCCTCCTCGATTTCAGCAA	0.458000								Non-homologous end-joining					7	19					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11174416	11174416	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:11174416G>A	ENST00000361445.4	-	53	7335	c.7259C>T	c.(7258-7260)gCc>gTc	p.A2420V	MTOR_ENST00000376838.1_Missense_Mutation_p.A625V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2420	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ATAGACAAAGGCTTCCAGCAC	0.527000													24	36					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502829	20502829	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:20502829C>T	ENST00000315693.2	-	1	90	c.89G>A	c.(88-90)gGa>gAa	p.G30E		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CACAGAGAATCCCAAGAAGAA	0.398000													21	38					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248085113	248085113	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:248085113C>T	ENST00000319968.4	+	1	794	c.794C>T	c.(793-795)tCc>tTc	p.S265F		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S265Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCCACAGGTCCACTAACCAC	0.493000													75	114					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179501362	179501362	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:179501362C>T	ENST00000589042.1	-	225	41316	c.41092G>A	c.(41092-41094)Gag>Aag	p.E13698K	TTN_ENST00000359218.5_Missense_Mutation_p.E4758K|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4825K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11130K|TTN_ENST00000591111.1_Missense_Mutation_p.E12057K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4633K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12057	Ig-like 93.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAACGAACTCTGATTCTGTC	0.458000													16	54					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100417333	100417333	+	Silent	SNP	G	G	A	rs2289058	byFrequency	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:100417333G>A	ENST00000358173.3	-	6	1611	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P	EPHB4_ENST00000360620.3_Silent_p.P381P|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	381	Fibronectin type-III 1.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCGGGGGCCGGGGTCAAAAG	0.657000													11	30					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65489554	65489554	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:65489554G>A	ENST00000261883.4	-	9	3236	c.3070C>T	c.(3070-3072)Ctg>Ttg	p.L1024L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1024					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ACCTTCACCAGGGTGCGGTCC	0.592000													30	84					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46828842	46828842	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:46828842C>T	ENST00000339613.2	+	11	1473	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L	HIF3A_ENST00000600383.1_Silent_p.L393L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Silent_p.L460L|HIF3A_ENST00000377670.4_Silent_p.L462L|HIF3A_ENST00000244303.6_Silent_p.L393L|HIF3A_ENST00000472815.1_Silent_p.L393L|HIF3A_ENST00000420102.2_Silent_p.L411L			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TGCACAGACTCTTCACCTCCG	0.517000													33	139					0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172634809	172634809	+	Missense_Mutation	SNP	G	G	A	rs80358236		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:172634809G>A	ENST00000367721.2	+	4	683	c.499G>A	c.(499-501)Gga>Aga	p.G167R	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	167					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						AGACACCTATGGAATTGTCCT	0.433000													27	68					0	0	1	0	0
AKAP14	158798	broad.mit.edu	37	X	119037502	119037502	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:119037502G>A	ENST00000371431.3	+	4	488	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	AKAP14_ENST00000394594.2_Missense_Mutation_p.E72K|AKAP14_ENST00000371422.1_Missense_Mutation_p.E72K|AKAP14_ENST00000371423.2_Missense_Mutation_p.E72K|AKAP14_ENST00000334356.2_Missense_Mutation_p.E72K|AKAP14_ENST00000371425.4_Missense_Mutation_p.E72K	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	72						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						GACTCACGGTGAATTCACTGT	0.423000													21	35					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409143	56409143	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:56409143A>T	ENST00000544374.1	-	1	804	c.776T>A	c.(775-777)tTt>tAt	p.F259Y	OR5AP2_ENST00000302981.1_Missense_Mutation_p.F258Y			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GATTGTTCCAAAGAATATGGT	0.458000													37	95					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20458107	20458107	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:20458107G>A	ENST00000361078.2	-	15	2403	c.2381C>T	c.(2380-2382)gCc>gTc	p.A794V	PUM2_ENST00000319801.5_Missense_Mutation_p.A715V|PUM2_ENST00000338086.5_Missense_Mutation_p.A794V|PUM2_ENST00000403432.1_Missense_Mutation_p.A794V|PUM2_ENST00000536417.1_Missense_Mutation_p.A738V			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	794	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTAGCCAGGGCTAATTTTTG	0.398000													30	50					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756473	94756473	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:94756473G>A	ENST00000554723.1	-	2	996	c.578C>T	c.(577-579)tCc>tTc	p.S193F	SERPINA10_ENST00000554173.1_Missense_Mutation_p.S153F|SERPINA10_ENST00000261994.4_Missense_Mutation_p.S153F|SERPINA10_ENST00000393096.1_Missense_Mutation_p.S153F			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	153					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CAGGTTGCGGGAGAGGGTCTC	0.517000													18	74					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796666	21796666	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:21796666G>A	ENST00000206660.6	+	18	2979	c.2979G>A	c.(2977-2979)aaG>aaA	p.K993K	RPGRIP1_ENST00000557771.1_Silent_p.K955K|RPGRIP1_ENST00000556336.1_Silent_p.K650K|RPGRIP1_ENST00000400017.2_Silent_p.K993K|RPGRIP1_ENST00000307974.4_Silent_p.K352K|RPGRIP1_ENST00000382933.4_Silent_p.K319K			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	993	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAGAAAGAAAGGAGAAGGAGC	0.433000													27	55					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92922828	92922828	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:92922828G>A	ENST00000532405.1	+	12	1357	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	SLC24A4_ENST00000298877.1_Silent_p.G360G|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000531433.1_Silent_p.G358G|SLC24A4_ENST00000393265.2_Silent_p.G313G|SLC24A4_ENST00000351924.5_Silent_p.G341G			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	377						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TTGAGAACGGGAATGTTCCTG	0.597000											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	42					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1783079	1783079	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:1783079G>A	ENST00000539485.1	-	29	4114	c.3881C>T	c.(3880-3882)tCc>tTc	p.S1294F	ATP8B3_ENST00000525591.1_Missense_Mutation_p.S1247F|ATP8B3_ENST00000310127.6_Missense_Mutation_p.S1284F			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1284					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGTCTAGGGATTCAGATGC	0.537000													11	22					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727712	13727712	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:13727712C>T	ENST00000265104.4	-	70	12041	c.11937G>A	c.(11935-11937)gaG>gaA	p.E3979E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3979					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGGTTCCTCCTCCGGGTTTT	0.418000									Kartagener syndrome				23	51					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196718247	196718247	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:196718247G>A	ENST00000312428.6	-	46	8701	c.8601C>T	c.(8599-8601)gaC>gaT	p.D2867D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2867	Stalk (By similarity).				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						TGCTGCAAAGGTCAACCTCGA	0.383000													15	22					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64521012	64521012	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:64521012G>A	ENST00000164139.3	-	11	1780	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	PYGM_ENST00000377432.3_Missense_Mutation_p.S373F	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	461					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GAGGATCTCGGAGTGGATGCG	0.652000													4	14					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524905	112524905	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:112524905C>T	ENST00000369697.1	-	1	513	c.444G>A	c.(442-444)atG>atA	p.M148I	KCND3_ENST00000302127.4_Missense_Mutation_p.M148I|KCND3_ENST00000315987.2_Missense_Mutation_p.M148I			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	148						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CGTTGTCGTCCATGAGCCGCT	0.632000													32	56					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247611	164247611	+	Silent	SNP	A	A	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:164247611A>G	ENST00000296533.2	-	2	627	c.96T>C	c.(94-96)gaT>gaC	p.D32D	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	32					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GCAGATGACAATCATCATTTT	0.393000													29	83					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47246260	47246260	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:47246260C>T	ENST00000300404.2	+	10	1552	c.1493C>T	c.(1492-1494)tCa>tTa	p.S498L	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.S438L|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.S412L	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	498					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GTGGCTCACTCAGGTGGGAAG	0.577000													8	33					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84671525	84671525	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:84671525G>A	ENST00000284136.6	-	8	981	c.938C>T	c.(937-939)cCt>cTt	p.P313L		NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	313	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ATCACTTCCAGGAATTGAGCA	0.398000													82	191					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34867067	34867067	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:34867067C>T	ENST00000360581.1	+	5	661	c.533C>T	c.(532-534)tCc>tTc	p.S178F	NPSR1_ENST00000359791.1_Missense_Mutation_p.S178F|NPSR1_ENST00000381542.1_Missense_Mutation_p.S112F|NPSR1_ENST00000381539.3_Missense_Mutation_p.S178F|NPSR1_ENST00000531252.1_Missense_Mutation_p.S167F	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	178						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TTTCTGTTCTCCATTCCCACC	0.522000													18	58					0	0	1	0	0
TRGV4	6977	broad.mit.edu	37	7	38393368	38393368	+	RNA	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:38393368C>T	ENST00000390345.2	-	0	635																											AATAAGATTTCGCAGTATCAT	0.468000													21	44					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19341013	19341013	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:19341013G>A	ENST00000263208.5	-	23	2970	c.2714C>T	c.(2713-2715)tCc>tTc	p.S905F	HIRA_ENST00000546308.1_3'UTR|HIRA_ENST00000541063.1_Missense_Mutation_p.S861F|HIRA_ENST00000340170.4_Missense_Mutation_p.S698F	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	905	Interaction with histone H4.				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)					ATGAGGCACGGAGAAGAGCCG	0.622000													9	23					0	0	1	0	0
CA5A	763	broad.mit.edu	37	16	87960436	87960436	+	Silent	SNP	G	G	A	rs145171357	byFrequency	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:87960436G>A	ENST00000309893.2	-	2	323	c.258C>T	c.(256-258)tcC>tcT	p.S86S	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	86					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		CCGCTTCATAGGAGACCCTGA	0.607000													19	45					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57417763	57417763	+	Silent	SNP	C	C	T	rs148088012		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:57417763C>T	ENST00000543257.1	-	6	1034	c.468G>A	c.(466-468)acG>acA	p.T156T	C8B_ENST00000371237.4_Silent_p.T208T|C8B_ENST00000535057.1_Silent_p.T146T	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	208	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TCCTAAACCTCGTGTTCAGGA	0.512000													47	136					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114062	117114062	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:117114062G>A	ENST00000310357.3	-	6	2045	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F	GPRC6A_ENST00000368549.3_Missense_Mutation_p.S604F|GPRC6A_ENST00000530250.1_Missense_Mutation_p.S500F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	675					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CAAAATGCAGGAGATGCAAAG	0.403000													20	81					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127666379	127666379	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:127666379C>T	ENST00000508053.1	-	39	5205	c.4231G>A	c.(4231-4233)Gaa>Aaa	p.E1411K	FBN2_ENST00000507835.1_Missense_Mutation_p.E261K|FBN2_ENST00000508989.1_Missense_Mutation_p.E1378K|FBN2_ENST00000262464.4_Missense_Mutation_p.E1411K			P35556	FBN2_HUMAN	fibrillin 2	1411	EGF-like 23; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.E1411Q(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTAGAACATTCGTCCAGATCT	0.428000													13	48					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17288903	17288903	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:17288903C>T	ENST00000331428.5	-	2	163	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	21						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACTATTTCTTCTTTCGAAGAT	0.418000													43	94					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1507796	1507796	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:1507796C>T	ENST00000345913.4	+	14	2554	c.2463C>T	c.(2461-2463)ttC>ttT	p.F821F	TPO_ENST00000382201.3_Silent_p.F764F|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.F648F|TPO_ENST00000346956.3_Intron|TPO_ENST00000382198.1_Silent_p.F648F|TPO_ENST00000337415.3_Silent_p.F821F|TPO_ENST00000329066.4_Silent_p.F821F	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	821	EGF-like; calcium-binding (Potential).				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)	AAGGCGGCTTCCAGTGTCTCT	0.597000													19	51					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70971075	70971075	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:70971075A>C	ENST00000276594.2	-	6	1387	c.1186T>G	c.(1186-1188)Tct>Gct	p.S396A		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CCTTCTGCAGACTCTGTCAAA	0.398000													18	42					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124392716	124392716	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:124392716C>T	ENST00000338354.3	+	49	6126	c.6020C>T	c.(6019-6021)tCc>tTc	p.S2007F	DMBT1_ENST00000330163.4_Missense_Mutation_p.S1379F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1379F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1997F|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2007F|DMBT1_ENST00000359586.6_Missense_Mutation_p.S727F|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1997F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2007					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)				GCAGATTATTCCTGCGGAGGC	0.473000													31	72					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712259	140712259	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:140712259G>A	ENST00000517417.1	+	1	2008	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D670N	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGATCTCCGACATCCTGGC	0.697000													32	96					0	0	1	0	0
NPLOC4	55666	broad.mit.edu	37	17	79556066	79556066	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:79556066G>A	ENST00000374747.5	-	12	1314	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V	NPLOC4_ENST00000539314.1_Silent_p.V234V|NPLOC4_ENST00000331134.6_Silent_p.V395V			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	395					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ACTCATCACGGACCAGTGCCA	0.502000													20	63					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113763579	113763579	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:113763579G>A	ENST00000259211.6	+	2	450	c.39G>A	c.(37-39)ggG>ggA	p.G13G		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	13					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CTCAGCAGGGGAGCATTCAGG	0.468000													21	67					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762118	92762118	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:92762118G>A	ENST00000318238.4	-	5	4383	c.3167C>T	c.(3166-3168)tCc>tTc	p.S1056F	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1056F|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1056F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1056										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATTAATGGGGAAAACAGAGT	0.393000													40	87					0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198834	15198834	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:15198834G>A	ENST00000209540.2	+	1	1044	c.958G>A	c.(958-960)Gat>Aat	p.D320N		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						acagttattggatgtttatca	0.527000													9	29					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55264214	55264214	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:55264214C>T	ENST00000340465.2	+	8	1182	c.1096C>T	c.(1096-1098)Ctt>Ttt	p.L366F		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	366						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGTGGAATCCTTCTGTTGGT	0.373000													19	55					0	0	1	0	0
OPTC	26254	broad.mit.edu	37	1	203467937	203467937	+	Missense_Mutation	SNP	C	C	A	rs149651299		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:203467937C>A	ENST00000367222.2	+	4	615	c.499C>A	c.(499-501)Cgt>Agt	p.R167S		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	167						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCGCATCAGCCGTATCAGGGC	0.552000													26	62					4.87955e-14	4.97357e-14	1	1	0
BMP6	654	broad.mit.edu	37	6	7845453	7845453	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:7845453G>A	ENST00000283147.6	+	2	904	c.745G>A	c.(745-747)Gag>Aag	p.E249K		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	249					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TCCTGAGGGTGAGGTGGTGAC	0.433000													42	91					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45419399	45419399	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:45419399G>A	ENST00000331493.2	+	6	714		c.e6+1		EFCAB13_ENST00000517484.1_Splice_Site|ITGB3_ENST00000435993.2_Splice_Site|ITGB3_ENST00000560629.1_Splice_Site	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		AAGAACTGAGGTAAATAAAGA	0.313000													15	27					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132527054	132527054	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:132527054C>T	ENST00000331898.7	-	2	906	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	OPCML_ENST00000541867.1_Missense_Mutation_p.E110K|OPCML_ENST00000374778.4_Missense_Mutation_p.E69K|OPCML_ENST00000524381.1_Missense_Mutation_p.E103K|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	110	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.E110K(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TACGGACCTTCGTCATACACA	0.512000													33	80					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9021761	9021761	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:9021761G>A	ENST00000299698.7	+	33	4363	c.4183G>A	c.(4183-4185)Gaa>Aaa	p.E1395K	A2ML1_ENST00000539547.1_Missense_Mutation_p.E904K	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1239						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GAAGAAGGTTGAATTTGGAAC	0.448000													51	136					0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884616	53884616	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:53884616C>T	ENST00000467003.1	+	4	877	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.R262C					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						TGCACGCCATCGTAGATGTCA	0.403000													29	89					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995047	140995047	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:140995047G>A	ENST00000285879.4	+	4	2143	c.1857G>A	c.(1855-1857)gaG>gaA	p.E619E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	619							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGGGGGAGGAATTCCAGT	0.567000										HNSCC(15;0.026)			129	202					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113763578	113763578	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:113763578G>A	ENST00000259211.6	+	2	449	c.38G>A	c.(37-39)gGg>gAg	p.G13E		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	13					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CCTCAGCAGGGGAGCATTCAG	0.473000													18	71					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38949939	38949939	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:38949939G>A	ENST00000355481.4	+	19	2452	c.2321G>A	c.(2320-2322)gGg>gAg	p.G774E	RYR1_ENST00000359596.3_Missense_Mutation_p.G774E|RYR1_ENST00000360985.3_Missense_Mutation_p.G774E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	774	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AACCTGGACGGGCTCTTCTTC	0.602000													20	32					0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748621	64748621	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:64748621C>T	ENST00000536360.1	-	5	1569	c.756G>A	c.(754-756)gtG>gtA	p.V252V				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	252	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CCAATGTCTCCACAAACCGTT	0.418000													25	99					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374449	8374449	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:8374449G>A	ENST00000538603.1	-	7	1922	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	FAM90A1_ENST00000307435.6_Missense_Mutation_p.S455F	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	455							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTCCTCTGAGGAGGAGGGAAC	0.607000													13	39					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10483118	10483118	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:10483118C>T	ENST00000396554.3	+	2	420	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	AMPD3_ENST00000444303.2_5'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	18					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGAGCAAGTCCGGCTCCTGGC	0.547000													46	145					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141766	114141766	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:114141766G>A	ENST00000276198.1	+	6	1893	c.1165G>A	c.(1165-1167)Gta>Ata	p.V389I	HTR2C_ENST00000371951.1_Missense_Mutation_p.V389I|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	389					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CAATTATAAGGTAGAGAAAAA	0.428000													55	77					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236732404	236732404	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:236732404G>A	ENST00000366582.3	-	29	4083	c.3969C>T	c.(3967-3969)atC>atT	p.I1323I	HEATR1_ENST00000366581.2_Silent_p.I1242I	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1323					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.I1323M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAATAGACATGATATTGTGTA	0.313000													11	39					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67553656	67553656	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:67553656C>T	ENST00000335894.4	+	2	164	c.98C>T	c.(97-99)tCa>tTa	p.S33L	IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000512104.1_Missense_Mutation_p.S33L	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	33				S -> T (in Ref. 1; AAK27307).						NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ACAAAATTCTCACCTGAGGAA	0.328000													35	84					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228470836	228470836	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:228470836G>A	ENST00000570156.2	+	37	9949	c.9875G>A	c.(9874-9876)aGg>aAg	p.R3292K	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2863K|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1710K|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2863K|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2326	Ig-like 33.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGAAGGACAGGAAGGCCATC	0.657000													3	5					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532485	92532485	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:92532485G>A	ENST00000298047.6	+	9	6323	c.6306G>A	c.(6304-6306)ctG>ctA	p.L2102L	FAT3_ENST00000525166.1_Silent_p.L1952L|FAT3_ENST00000409404.2_Silent_p.L2102L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2102	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCGGGACTCTGATTTATCAGG	0.443000										TCGA Ovarian(4;0.039)			36	18					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102302452	102302452	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:102302452G>A	ENST00000370103.4	-	2	412	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	OLFM3_ENST00000338858.5_Missense_Mutation_p.R87C|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.R87C|OLFM3_ENST00000536598.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	87						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGTAGTTGGCGAAGTTGCCTG	0.458000													53	80					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582572	136582572	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:136582572C>T	ENST00000531224.1	-	12	2840	c.2588G>A	c.(2587-2589)gGa>gAa	p.G863E	BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G690E|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G861E|BCLAF1_ENST00000031135.9_Missense_Mutation_p.G81E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G814E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G812E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G812E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	863					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.G863E(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACGACCTCTTCCTCTTTTGGC	0.408000													48	265					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432554	10432554	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:10432554G>A	ENST00000245503.5	-	26	3663	c.3279C>T	c.(3277-3279)atC>atT	p.I1093I	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.I1093I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1093					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						GCAGATTGCTGATTTCAAACT	0.333000													23	41					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801068	185801068	+	Silent	SNP	A	A	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:185801068A>G	ENST00000302277.6	+	4	1539	c.945A>G	c.(943-945)caA>caG	p.Q315Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	315						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						GCAAGTTTCAACTTCAGTTAT	0.333000													16	57					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415685	86415685	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:86415685C>T	ENST00000361669.2	+	3	1676	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	GRM3_ENST00000394720.2_Missense_Mutation_p.P191S|GRM3_ENST00000439827.1_Missense_Mutation_p.P193S|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.P65S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	193					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GACCGTGCCCCCCGACTTCTA	0.572000													34	112					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60511877	60511877	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:60511877C>T	ENST00000360469.5	+	16	2715	c.2627C>T	c.(2626-2628)aCc>aTc	p.T876I	CDH4_ENST00000543233.1_Missense_Mutation_p.T802I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	876	Ser-rich.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGCGGCTCCACCGCAGGCTCC	0.627000													12	34					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80620348	80620348	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:80620348G>A	ENST00000466387.1	+	12	1793	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	CTNNA2_ENST00000361291.4_Missense_Mutation_p.E391K|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E357K|CTNNA2_ENST00000343114.3_Missense_Mutation_p.E36K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E357K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E357K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.E357K			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	357					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGAAGGAAAGAAAAAGGAGA	0.289000													21	65					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46230571	46230571	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:46230571C>T	ENST00000334344.6	+	8	992	c.820C>T	c.(820-822)Cga>Tga	p.R274*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.R125*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	274					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCATCCACCTCGAAAGCTGGG	0.363000			"""N, S, F"""		hepatocellular carcinoma								36	59					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31341880	31341880	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:31341880C>T	ENST00000544665.3	+	28	3304	c.3233C>T	c.(3232-3234)tCc>tTc	p.S1078F	ITGAM_ENST00000287497.8_Missense_Mutation_p.S1077F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1077					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTTAACGATTCCGTGTTCACC	0.607000													10	23					0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124459225	124459225	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:124459225C>T	ENST00000329446.4	-	1	113	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	28										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				ACTGGCTTTTCATTCTTCCTT	0.443000													27	50					0	0	1	0	0
CLDN1	9076	broad.mit.edu	37	3	190027972	190027972	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:190027972G>A	ENST00000295522.3	-	3	727	c.459C>T	c.(457-459)acC>acT	p.T153T		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	153					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)		CATTGACTGGGGTCATAGGGT	0.378000													17	50					0	0	1	0	0
GJB3	2707	broad.mit.edu	37	1	35250896	35250896	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:35250896T>A	ENST00000373366.2	+	2	1148	c.533T>A	c.(532-534)aTt>aAt	p.I178N	RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Missense_Mutation_p.I178N	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	178					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GACTGCTACATTGCCCGACCT	0.577000													48	103					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228403470	228403470	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:228403470G>A	ENST00000570156.2	+	6	2109	c.2035G>A	c.(2035-2037)Ggg>Agg	p.G679R	OBSCN_ENST00000422127.1_Missense_Mutation_p.G679R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.G679R|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	679	Ig-like 6.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCCTGCACGGGGCGCAGCT	0.652000													5	18					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872551	36872551	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:36872551G>A	ENST00000301807.6	-	21	8638	c.6741C>T	c.(6739-6741)ttC>ttT	p.F2247F	TRANK1_ENST00000428977.2_Silent_p.F2247F|TRANK1_ENST00000429976.2_Silent_p.F2797F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2797					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTTCTCGTGGAAAAATTCTG	0.527000													41	151					0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242572546	242572546	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:242572546G>A	ENST00000407315.1	-	2	1457	c.1026C>T	c.(1024-1026)atC>atT	p.I342I		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	342							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GCAGTGAGTCGATGAGCTTGC	0.627000													15	39					0	0	1	0	0
SHROOM1	134549	broad.mit.edu	37	5	132159880	132159880	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:132159880G>A	ENST00000378679.3	-	7	2277	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P	SHROOM1_ENST00000319854.3_Silent_p.P491P|SHROOM1_ENST00000378676.1_Silent_p.P422P	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	491					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCTGTGGGGGGATTGGTGG	0.537000													15	56					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476979	20476979	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:20476979G>A	ENST00000573854.1	+	3	432	c.318G>A	c.(316-318)ggG>ggA	p.G106G	ACSM2A_ENST00000417235.2_Silent_p.G27G|ACSM2A_ENST00000575690.1_Silent_p.G106G|ACSM2A_ENST00000219054.6_Silent_p.G106G|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000396104.2_Silent_p.G106G|ACSM2A_ENST00000424070.1_Silent_p.G106G|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	106					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGCAGCGTGGGGATCGTGTGG	0.572000													15	46					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698469	17698469	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:17698469C>T	ENST00000399080.2	-	1	1237	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	405										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCTCTATTTCTTCTCAAAAT	0.313000													13	46					0	0	1	0	0
ZDHHC11	79844	broad.mit.edu	37	5	840527	840527	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:840527G>A	ENST00000511539.1	-	2	332	c.228C>T	c.(226-228)gtC>gtT	p.V76V	ZDHHC11_ENST00000283441.8_Intron|ZDHHC11_ENST00000424784.2_Intron|ZDHHC11_ENST00000503758.2_Intron			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	0						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CAGGGTTAGGGACATACTCAA	0.577000													8	45					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878768	5878768	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:5878768G>A	ENST00000537935.1	-	1	196	c.165C>T	c.(163-165)atC>atT	p.I55I	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCAGTCTGGATCACAAACA	0.478000													68	137					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698400	169698400	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:169698400G>A	ENST00000333360.7	-	7	1156	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	SELE_ENST00000367782.4_Silent_p.F339F|SELE_ENST00000367775.1_Silent_p.F277F|SELE_ENST00000367774.1_Silent_p.F339F|SELE_ENST00000367781.4_Silent_p.F339F|SELE_ENST00000367776.1_Silent_p.F339F|SELE_ENST00000367780.4_Silent_p.F277F|SELE_ENST00000367777.1_Silent_p.F339F|SELE_ENST00000367779.4_Silent_p.F339F|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	339	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CCTGCAACATGAAGCCTTCCT	0.527000													13	37					0	0	1	0	0
BPGM	669	broad.mit.edu	37	7	134346437	134346437	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:134346437C>T	ENST00000393132.2	+	3	667	c.178C>T	c.(178-180)Ctt>Ttt	p.L60F	BPGM_ENST00000344924.3_Missense_Mutation_p.L60F|BPGM_ENST00000418040.1_Missense_Mutation_p.L60F	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	60					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						CACATCTGTCCTTAATCGGTC	0.493000													14	40					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538936	55538936	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:55538936G>A	ENST00000220676.1	+	4	2642	c.2494G>A	c.(2494-2496)Gat>Aat	p.D832N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	832					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAACCCAAAGATTTTTATGC	0.328000													20	53					0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204128724	204128724	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:204128724C>T	ENST00000367195.2	-	5	536		c.e5-1		REN_ENST00000272190.8_Splice_Site			P00797	RENI_HUMAN	renin						angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TTCCACCCACCTGTGGGAGGA	0.597000													11	46					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50769433	50769433	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:50769433G>A	ENST00000216923.4	-	6	1647	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	ZFP64_ENST00000371515.4_Missense_Mutation_p.S431F|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.S379F	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCGCATGAAGGAGGCATCGCA	0.567000													21	67					0	0	1	0	0
FAM46B	115572	broad.mit.edu	37	1	27338932	27338932	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:27338932G>A	ENST00000289166.5	-	1	395	c.230C>T	c.(229-231)cCc>cTc	p.P77L		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	77										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCAGCGTGGGGAAGTTGCC	0.657000													7	3					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784682	9784682	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:9784682C>T	ENST00000304374.2	+	1	1425	c.1029C>T	c.(1027-1029)gtC>gtT	p.V343V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	343					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCTTCGACGTCTTCGTCTGGT	0.597000													28	125					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58490716	58490716	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:58490716C>T	ENST00000341164.4	-	7	1952	c.1332G>A	c.(1330-1332)acG>acA	p.T444T	ZNF606_ENST00000536132.1_Silent_p.T354T	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GTTCATGTTTCGTAAGGGCTG	0.363000													19	34					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215838741	215838741	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:215838741C>T	ENST00000272895.7	-	36	5713	c.5494G>A	c.(5494-5496)Gaa>Aaa	p.E1832K	ABCA12_ENST00000389661.4_Missense_Mutation_p.E1514K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1832					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCCATTTTTCCAGACTGTCT	0.378000													18	44					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8258108	8258108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:8258108G>A	ENST00000402384.3	-	6	672	c.406C>T	c.(406-408)Cga>Tga	p.R136*	ICA1_ENST00000396675.3_Nonsense_Mutation_p.R136*|ICA1_ENST00000407906.1_Nonsense_Mutation_p.R136*|ICA1_ENST00000406470.2_Nonsense_Mutation_p.R136*|ICA1_ENST00000265577.7_Nonsense_Mutation_p.R135*|ICA1_ENST00000476942.1_5'UTR|ICA1_ENST00000422063.2_Nonsense_Mutation_p.R136*|ICA1_ENST00000401396.1_Nonsense_Mutation_p.R124*			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	136	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGGTGAAATCGACACAAAGGA	0.473000													20	45					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133923693	133923693	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:133923693C>T	ENST00000220616.4	+	19	4114	c.4074C>T	c.(4072-4074)acC>acT	p.T1358T	TG_ENST00000377869.1_Silent_p.T1358T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1358					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTGTCTGACCAGGGAGCGTT	0.473000													49	94					0	0	1	0	0
C15orf54	400360	broad.mit.edu	37	15	39544514	39544514	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:39544514G>A	ENST00000318578.3	+	2	546	c.178G>A	c.(178-180)Gag>Aag	p.E60K	RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.E60K|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	60										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TCACATGACGGAGCTCCCTCT	0.433000													105	258					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756472	94756472	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:94756472G>A	ENST00000554723.1	-	2	997	c.579C>T	c.(577-579)tcC>tcT	p.S193S	SERPINA10_ENST00000554173.1_Silent_p.S153S|SERPINA10_ENST00000261994.4_Silent_p.S153S|SERPINA10_ENST00000393096.1_Silent_p.S153S			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	153					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CCAGGTTGCGGGAGAGGGTCT	0.522000													19	77					0	0	1	0	0
CYB5D2	124936	broad.mit.edu	37	17	4047155	4047155	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:4047155C>T	ENST00000301391.3	+	1	606	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	CYB5D2_ENST00000575251.1_Intron|CYB5D2_ENST00000573984.1_Intron	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	36	Cytochrome b5 heme-binding.				nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						CGCTGGCTTTCGCCTTTTCAT	0.672000													23	47					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60689771	60689771	+	Silent	SNP	T	T	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:60689771T>C	ENST00000582809.1	+	23	2354	c.1651T>C	c.(1651-1653)Ttg>Ctg	p.L551L	TLK2_ENST00000542523.1_Silent_p.L668L|TLK2_ENST00000346027.5_Silent_p.L700L|TLK2_ENST00000343388.7_Silent_p.L668L|TLK2_ENST00000326270.9_Silent_p.L722L			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	722	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TCGACGATGCTTGGCCTACCG	0.542000													27	49					0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41926210	41926210	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:41926210G>A	ENST00000317310.4	+	2	369	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	CD300LG_ENST00000586233.1_Missense_Mutation_p.E110K|CD300LG_ENST00000588884.1_Missense_Mutation_p.E110K|CD300LG_ENST00000539718.1_Missense_Mutation_p.E110K|CD300LG_ENST00000377203.4_Missense_Mutation_p.E110K|CD300LG_ENST00000293396.8_Missense_Mutation_p.E110K	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	110	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	p.E110K(3)		central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTGTGGGGTCGAAAAACGGGG	0.592000													28	85					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2604963	2604963	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:2604963G>A	ENST00000358864.1	+	17	2242	c.2227G>A	c.(2227-2229)Gat>Aat	p.D743N		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	743						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CATTGAAAACGATTTCCCAAC	0.483000													25	87					0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825364	64825364	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:64825364G>A	ENST00000358658.3	-	3	490	c.463C>T	c.(463-465)Cct>Tct	p.P155S	NAALADL1_ENST00000339885.2_Missense_Mutation_p.P155S|NAALADL1_ENST00000355721.3_Missense_Mutation_p.P155S|NAALADL1_ENST00000340252.4_Missense_Mutation_p.P155S|NAALADL1_ENST00000356632.3_Missense_Mutation_p.P155S|NAALADL1_ENST00000355369.2_Missense_Mutation_p.P155S	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	155					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GTTCCAGAAGGAGCATAGGCA	0.647000													23	77					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139905958	139905958	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:139905958G>A	ENST00000265662.5	-	37	5847	c.5700C>T	c.(5698-5700)gtC>gtT	p.V1900V	ABCA2_ENST00000341511.6_Silent_p.V1900V|ABCA2_ENST00000371605.3_Silent_p.V1899V			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1899					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGAGCTGGGGACCTCGAACC	0.632000													4	7					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053842	50053842	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:50053842C>T	ENST00000376042.1	+	6	2971	c.2673C>T	c.(2671-2673)atC>atT	p.I891I	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.I891I|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	891					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGAGACCATCTTCAAGGAGT	0.498000													31	31					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945634	144945634	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:144945634C>T	ENST00000525985.1	-	2	1859	c.1788G>A	c.(1786-1788)gtG>gtA	p.V596V				P58107	EPIPL_HUMAN	epiplakin 1	596						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGCTGCCCACATCCTTGG	0.637000													9	17					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9928059	9928059	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:9928059C>T	ENST00000396573.2	-	9	1989	c.1680G>A	c.(1678-1680)atG>atA	p.M560I	GRIN2A_ENST00000330684.3_Missense_Mutation_p.M560I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M403I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M560I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M560I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M560I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	560					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCACAAACATCATCACCCAGA	0.433000													39	118					0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139741542	139741542	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:139741542C>T	ENST00000263549.3	-	6	1957	c.1084G>A	c.(1084-1086)Gcc>Acc	p.A362T		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	362						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ACAGAGGAGGCCGTGGAGAGG	0.517000													76	162					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15561696	15561696	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:15561696C>T	ENST00000344577.2	-	2	179	c.154G>A	c.(154-156)Gat>Aat	p.D52N	LIPI_ENST00000536861.1_Missense_Mutation_p.D31N	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	31					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CTGAAGGAATCCTTTACACTT	0.348000													29	95					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148806	34148806	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:34148806G>A	ENST00000346193.3	-	1	1641	c.1590C>T	c.(1588-1590)ctC>ctT	p.L530L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	530										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCTCCGGACCGAGACTGGACG	0.657000													33	68					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68404800	68404800	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:68404800C>T	ENST00000219334.5	-	3	1888	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	SMPD3_ENST00000563226.1_Missense_Mutation_p.D429N|SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000568373.1_Missense_Mutation_p.D429N	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	429					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGGGCATCGTCGTTACACTTG	0.592000													13	30					0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53853378	53853378	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:53853378C>T	ENST00000331251.3	+	1	2388	c.911C>T	c.(910-912)cCc>cTc	p.P304L		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	304					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TGCCTCAACCCCTTCCTCTAC	0.652000													15	40					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175493	140175493	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:140175493C>T	ENST00000526136.1	+	1	944	c.944C>T	c.(943-945)tCc>tTc	p.S315F	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.S315F|PCDHA2_ENST00000378132.1_Missense_Mutation_p.S315F	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCAAAGTCCTACGAGATT	0.393000													21	50					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50330257	50330257	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:50330257C>T	ENST00000336089.4	-	2	47	c.48G>A	c.(46-48)gaG>gaA	p.E16E	IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	228							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACAGCCAAACCTCAGGCAGTG	0.537000													18	58					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45387155	45387155	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:45387155G>A	ENST00000389039.6	-	32	4759	c.4374C>T	c.(4372-4374)ttC>ttT	p.F1458F	DUOX2_ENST00000603300.1_Silent_p.F1458F			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1458					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCCTGAGGTCGAACTTCTCAG	0.587000													23	62					0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672267	39672267	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:39672267G>A	ENST00000398930.1	+	4	1438	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	KCNJ15_ENST00000398938.2_Missense_Mutation_p.E362K|KCNJ15_ENST00000398932.1_Missense_Mutation_p.E362K|KCNJ15_ENST00000398934.1_Missense_Mutation_p.E362K|KCNJ15_ENST00000328656.3_Missense_Mutation_p.E362K			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	362					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GGATCAGAGGGAAAGAGAACT	0.468000													18	69					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104092971	104092971	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:104092971C>T	ENST00000388887.2	+	34	3884	c.3680C>T	c.(3679-3681)tCc>tTc	p.S1227F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1227	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGGGTTTCTCCTATTTCCTT	0.483000													17	44					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155153624	155153624	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:155153624C>T	ENST00000367178.3	+	20	3487	c.2911C>T	c.(2911-2913)Cct>Tct	p.P971S	SCAF8_ENST00000367186.4_Missense_Mutation_p.P1037S|SCAF8_ENST00000417268.1_Missense_Mutation_p.P971S	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	971	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TGGACCTTTTCCTCCAGGAGA	0.463000													65	156					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325397	152325397	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:152325397C>T	ENST00000388718.5	-	3	4937	c.4865G>A	c.(4864-4866)gGa>gAa	p.G1622E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1622							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTATCTGTCCATGAGTAGT	0.507000													118	388					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156811480	156811480	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:156811480G>A	ENST00000368195.3	-	20	3900	c.3504C>T	c.(3502-3504)atC>atT	p.I1168I	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1168	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGTGGTGAAGATCCCATCTT	0.647000													33	66					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90020670	90020670	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:90020670C>T	ENST00000405460.2	+	46	9866	c.9770C>T	c.(9769-9771)tCc>tTc	p.S3257F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3257					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTGTGTTTTCCGTATTTCAA	0.289000													32	84					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2195030	2195030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:2195030G>A	ENST00000511885.2	-	7	1275	c.922C>T	c.(922-924)Caa>Taa	p.Q308*	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Nonsense_Mutation_p.Q308*			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	308					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTCATTGTTTGAAATAGCACG	0.328000								DNA polymerases (catalytic subunits)					12	37					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95481126	95481126	+	RNA	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:95481126C>T	ENST00000432432.2	-	0	2234					NR_040113.1																						TCTTTCATTTCCTGTGTTTGC	0.363000													46	159					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429699	135429699	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:135429699C>T	ENST00000394143.1	+	6	4125	c.3834C>T	c.(3832-3834)tcC>tcT	p.S1278S	GPR112_ENST00000370652.1_Silent_p.S1278S|GPR112_ENST00000412101.1_Silent_p.S1073S|GPR112_ENST00000394141.1_Silent_p.S1073S|GPR112_ENST00000287534.4_Silent_p.S1215S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1278					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGAAATGTCCCCATCAAAGA	0.433000													34	61					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39723916	39723916	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:39723916C>T	ENST00000246662.4	-	7	1546	c.1481G>A	c.(1480-1482)gGa>gAa	p.G494E	KRT9_ENST00000588431.1_Missense_Mutation_p.G261E	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	494	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				atagctgcctccacttcctcc	0.557000													6	20					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159268	154159268	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:154159268C>T	ENST00000360256.4	-	14	2997	c.2797G>A	c.(2797-2799)Gat>Aat	p.D933N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	933	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AATTGACTATCATAATGAACT	0.378000													35	38					0	0	1	0	0
UGT1A6	54578	broad.mit.edu	37	2	234601738	234601738	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:234601738C>A	ENST00000305139.6	+	1	227	c.88C>A	c.(88-90)Ctg>Atg	p.L30M	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TGACAAGCTGCTGGTGGTCCC	0.507000													32	89					1.06801e-11	1.08441e-11	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39227580	39227580	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:39227580C>T	ENST00000396251.1	-	2	3587	c.3357_splice	c.e2+1	p.K1119_splice	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000340369.3_Silent_p.K1119K	NM_001198621.1	NP_001185550.1	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1119							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCTACTGACCTTTCTGGGGG	0.602000													28	96					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701991	30701991	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:30701991G>A	ENST00000256246.2	-	1	4617	c.4543C>T	c.(4543-4545)Cat>Tat	p.H1515Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1515										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTGCTCAGATGGGAATCAATC	0.343000													55	144					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13830949	13830949	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:13830949C>T	ENST00000284951.5	-	19	1909	c.1835G>A	c.(1834-1836)aGa>aAa	p.R612K	SEL1L2_ENST00000378072.5_Missense_Mutation_p.R499K|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	612						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTACAATCTTCTGGCCAAGTG	0.448000													22	65					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1093735	1093735	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:1093735C>T	ENST00000441003.2	+	30	5581	c.5554C>T	c.(5554-5556)Cct>Tct	p.P1852S	MUC2_ENST00000333592.6_Missense_Mutation_p.P140S|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1855						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CACATCCAATCCTCCGCCTGA	0.602000													56	255					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109804975	109804975	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:109804975G>A	ENST00000271332.3	+	6	4514	c.4453G>A	c.(4453-4455)Gat>Aat	p.D1485N		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1485	Laminin G-like 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGTGACCGTGGATGGCTGTGA	0.617000													37	27					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201872	71201872	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:71201872G>A	ENST00000273936.4	+	1	1175	c.1116G>A	c.(1114-1116)aaG>aaA	p.K372K		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	372						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGACTATAAGGAAGACACCT	0.383000													31	70					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31348049	31348049	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:31348049G>A	ENST00000396618.3	+	5	328	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	COCH_ENST00000460581.2_5'UTR|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.R91Q|COCH_ENST00000475087.1_Missense_Mutation_p.R91Q	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	91	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGACCTGTACGAGTCTATAGC	0.458000													31	77					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67047236	67047236	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:67047236A>T	ENST00000315962.4	+	3	726	c.353A>T	c.(352-354)aAa>aTa	p.K118I	TRIM55_ENST00000353317.5_Missense_Mutation_p.K118I|TRIM55_ENST00000350034.4_Missense_Mutation_p.K118I|TRIM55_ENST00000276573.7_Missense_Mutation_p.K118I	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	118						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCAGAAAAGAAATCCGACCAG	0.512000													23	37					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115258745	115258745	+	Missense_Mutation	SNP	C	C	G	rs121434595		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:115258745C>G	ENST00000369535.4	-	2	290	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	13			G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G13R(76)|p.G13C(23)|p.G13S(5)|p.G13N(1)|p.G13Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCCAACACCACCTGCTCCA	0.498000	G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			50	92					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17886797	17886797	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:17886797G>A	ENST00000594202.1	+	16	1288	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	FCHO1_ENST00000597512.1_Missense_Mutation_p.A344T|FCHO1_ENST00000252771.7_Missense_Mutation_p.A337T|FCHO1_ENST00000389133.4_Missense_Mutation_p.A337T|FCHO1_ENST00000596951.1_Missense_Mutation_p.A337T|FCHO1_ENST00000600676.1_Missense_Mutation_p.A337T|FCHO1_ENST00000539407.1_Missense_Mutation_p.A337T|FCHO1_ENST00000596536.1_Missense_Mutation_p.A337T|FCHO1_ENST00000595033.1_Missense_Mutation_p.A287T	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	337										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCCACGCACGGCCGAGCCCTC	0.627000											OREG0025349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	62					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347291	71347291	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:71347291C>T	ENST00000413702.1	+	4	1118	c.830C>T	c.(829-831)cCa>cTa	p.P277L	MUC7_ENST00000304887.5_Missense_Mutation_p.P277L|MUC7_ENST00000456088.1_Missense_Mutation_p.P277L	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	277	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			GCCTCAGCTCCACCAGAGACC	0.582000													65	220					0	0	1	0	0
SSX6	280657	broad.mit.edu	37	X	47969370	47969370	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:47969370G>A	ENST00000376932.2	+	2	81	c.7G>A	c.(7-9)Gga>Aga	p.G3R	SSX6_ENST00000319275.3_5'UTR																large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						TGCCATGAACGGAGACGACGC	0.567000													34	58					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133650317	133650317	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:133650317T>A	ENST00000519595.1	-	4	391	c.293A>T	c.(292-294)aAt>aTt	p.N98I	LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.N98I|LRRC6_ENST00000518642.1_Missense_Mutation_p.N98I			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	98						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCCAATGAAATTCACAGTCAG	0.403000													19	59					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204022527	204022527	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:204022527A>G	ENST00000449802.1	+	35	5939	c.5606A>G	c.(5605-5607)gAt>gGt	p.D1869G		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1869							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCTGAAGAGGATATAACAGCT	0.333000													32	71					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658175	72658175	+	RNA	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:72658175G>A	ENST00000425256.1	-	0	1736					NR_002164.1																						agcacagagtgatttcggatg	0.502000													58	106					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50054462	50054462	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:50054462C>T	ENST00000376042.1	+	6	3591	c.3293C>T	c.(3292-3294)cCt>cTt	p.P1098L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.P1098L|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	1098					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCTGATAAACCTGTCTCACCA	0.473000													27	26					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165997345	165997345	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:165997345A>T	ENST00000360093.3	-	13	2326	c.1835T>A	c.(1834-1836)tTt>tAt	p.F612Y	SCN3A_ENST00000409101.3_Missense_Mutation_p.F612Y|SCN3A_ENST00000283254.7_Missense_Mutation_p.F612Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	612						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTGCGGCACAAACAGTGAGTC	0.498000													23	53					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841188	13841188	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:13841188G>A	ENST00000265104.4	-	34	5640	c.5536C>T	c.(5536-5538)Ctt>Ttt	p.L1846F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1846	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATTTCTAAGGGCTTCTTCT	0.368000									Kartagener syndrome				20	62					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76423318	76423318	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:76423318C>T	ENST00000357063.3	+	28	5670	c.4410C>T	c.(4408-4410)atC>atT	p.I1470I	LMO7_ENST00000526202.1_Silent_p.I1062I|LMO7_ENST00000377534.3_Silent_p.I1470I|LMO7_ENST00000321797.8_Silent_p.I1185I|LMO7_ENST00000465261.2_Silent_p.I1185I|LMO7_ENST00000341547.4_Silent_p.I1136I			Q8WWI1	LMO7_HUMAN	LIM domain 7	1470						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GGCAACAAATCCTTCAGGAAA	0.453000													20	39					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61761046	61761046	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:61761046G>A	ENST00000577390.1	-	9	2442	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	CDH8_ENST00000584337.1_Silent_p.F496F|CDH8_ENST00000577730.1_Silent_p.F496F|CDH8_ENST00000299345.6_Silent_p.F496F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	496	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F496F(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTCGGATGCGAATTCAGGGG	0.398000													49	119					0	0	1	0	0
CXXC5	51523	broad.mit.edu	37	5	139060330	139060330	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:139060330C>T	ENST00000302517.3	+	2	936	c.222C>T	c.(220-222)cgC>cgT	p.R74R	CXXC5_ENST00000511048.1_Silent_p.R74R	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	74					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCCTGCGCCGCTCCCGCC	0.642000													31	87					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	37903742	37903742	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:37903742G>A	ENST00000261439.4	+	2	381	c.26G>A	c.(25-27)aGg>aAg	p.R9K	TBC1D1_ENST00000508802.1_Missense_Mutation_p.R9K|TBC1D1_ENST00000402522.1_Missense_Mutation_p.R9K	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	9						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TTCACAGCAAGGAAACATCTG	0.488000													42	107					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204943419	204943419	+	Splice_Site	SNP	G	G	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:204943419G>T	ENST00000367172.4	+	13	1719		c.e13+1		NFASC_ENST00000403080.1_Splice_Site|NFASC_ENST00000401399.1_Splice_Site|NFASC_ENST00000404076.1_Splice_Site|NFASC_ENST00000539706.1_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000338586.6_Splice_Site|NFASC_ENST00000360049.4_Splice_Site|NFASC_ENST00000404907.1_Splice_Site|NFASC_ENST00000367169.4_Splice_Site|NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000338515.6_Splice_Site|NFASC_ENST00000513543.1_Splice_Site			O94856	NFASC_HUMAN	neurofascin						axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACTGCGATGGTAAGTTCCAG	0.562000													10	23					4.68919e-08	4.73845e-08	1	1	0
DPY19L4	286148	broad.mit.edu	37	8	95778881	95778881	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:95778881C>T	ENST00000414645.2	+	11	1242	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	381						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TGCTGAAATTCCTTGAAGTAA	0.303000													8	29					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046507	17046507	+	RNA	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:17046507G>A	ENST00000492551.1	-	0	145					NR_026567.1																						GTCTCCTTTGGCTGCAGCGTA	0.622000													26	59					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119462855	119462855	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:119462855G>A	ENST00000273390.5	+	14	1791	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GGCCGGACTGGAAGGAAGGGC	0.458000													22	57					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89981753	89981753	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:89981753G>A	ENST00000405460.2	+	29	6527	c.6431G>A	c.(6430-6432)gGa>gAa	p.G2144E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2144					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTAGAACAGGAGGAGCATTT	0.418000													8	17					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33634975	33634975	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:33634975G>A	ENST00000380099.3	+	4	1767	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	587	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTTACTCCAGGAAATGCACGT	0.502000													41	105					0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	720202	720202	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:720202G>A	ENST00000406797.1	-	3	513	c.339C>T	c.(337-339)taC>taT	p.Y113Y	PRKAR1B_ENST00000544935.1_Silent_p.Y113Y|PRKAR1B_ENST00000537384.1_Silent_p.Y113Y|PRKAR1B_ENST00000360274.4_Silent_p.Y113Y|PRKAR1B_ENST00000403562.1_Silent_p.Y113Y	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	113	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCTTCCTGACGTAGGACACGG	0.697000													17	22					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82586111	82586111	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:82586111C>T	ENST00000423517.2	-	5	4495	c.4158G>A	c.(4156-4158)aaG>aaA	p.K1386K	PCLO_ENST00000333891.8_Silent_p.K1386K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1317					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAGAATATCCTTTTCATCAG	0.428000													16	44					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148865248	148865248	+	Missense_Mutation	SNP	C	C	T	rs139892427		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:148865248C>T	ENST00000367467.3	+	18	3117	c.2642C>T	c.(2641-2643)cCc>cTc	p.P881L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	881							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AAGGCCCAGCCCCTGGAGCAA	0.537000													45	203					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871781	13871781	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:13871781G>A	ENST00000265104.4	-	23	3594	c.3490C>T	c.(3490-3492)Ccc>Tcc	p.P1164S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1164	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAAGCAAGGGGCTCTGTGTA	0.398000									Kartagener syndrome				20	45					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108409770	108409770	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:108409770G>A	ENST00000265843.4	-	3	534	c.424C>T	c.(424-426)Cca>Tca	p.P142S	EXPH5_ENST00000428840.1_Missense_Mutation_p.P66S|EXPH5_ENST00000525344.1_Missense_Mutation_p.P135S	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	142					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCCAGTGATGGAAGCTTTGAA	0.443000													63	47					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168073917	168073917	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:168073917G>A	ENST00000367838.1	-	4	485	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	GPR161_ENST00000271357.5_Missense_Mutation_p.L58F|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000537209.1_Missense_Mutation_p.L78F|GPR161_ENST00000361697.2_Missense_Mutation_p.L58F|GPR161_ENST00000367835.1_Missense_Mutation_p.L58F|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000539777.1_Intron	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	58					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AGGGTGAGGAGGTAGGACTTC	0.532000													41	94					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139606407	139606407	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:139606407C>T	ENST00000303045.6	-	63	4914	c.4468G>A	c.(4468-4470)Gcg>Acg	p.A1490T	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.A1470T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1490	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTCATGTACGCCGGGGGCATC	0.597000										HNSCC(7;0.00092)			18	40					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145500038	145500038	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:145500038G>A	ENST00000394434.2	-	31	3387	c.3221C>T	c.(3220-3222)cCc>cTc	p.P1074L	LARS_ENST00000510191.1_Missense_Mutation_p.P1020L|LARS_ENST00000274562.9_Missense_Mutation_p.P1047L|LARS_ENST00000545646.1_Missense_Mutation_p.P1028L	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1074					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GGATGGCTGGGGATTCACCAG	0.413000													38	88					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38309461	38309461	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:38309461G>A	ENST00000399120.1	-	5	1514	c.284C>T	c.(283-285)cCc>cTc	p.P95L	HLCS_ENST00000336648.3_Missense_Mutation_p.P95L	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	95					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	ATGCTCAACGGGGCCCCCTCC	0.547000													29	50					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89953743	89953743	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:89953743G>A	ENST00000405460.2	+	21	4496	c.4400G>A	c.(4399-4401)gGa>gAa	p.G1467E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1467					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGAGAATTGGAGCAGGGATA	0.403000													22	56					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38146056	38146056	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:38146056C>T	ENST00000378505.2	-	15	2372	c.2196G>A	c.(2194-2196)gaG>gaA	p.E732E	RPGR_ENST00000342811.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	718	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						catgctcctcctcccctccct	0.537000													3	8					0	0	1	0	0
GNAT3	346562	broad.mit.edu	37	7	80091888	80091888	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:80091888C>T	ENST00000398291.3	-	6	743	c.650G>A	c.(649-651)gGa>gAa	p.G217E	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	217					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						GCATGTAACTCCTTCAAAGCA	0.378000													22	40					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57650227	57650227	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:57650227G>A	ENST00000402412.1	-	22	2907	c.2517C>T	c.(2515-2517)ctC>ctT	p.L839L	R3HDM2_ENST00000413953.2_Silent_p.L552L|R3HDM2_ENST00000393811.2_Silent_p.L552L|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000403821.2_Silent_p.L859L|R3HDM2_ENST00000441731.2_Silent_p.L520L|R3HDM2_ENST00000347140.3_Silent_p.L825L|R3HDM2_ENST00000358907.2_Silent_p.L825L			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	825						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						ACTGGCCATGGAGCAAGGGAG	0.542000													6	12					0	0	1	0	0
PSMC1	5700	broad.mit.edu	37	14	90730042	90730042	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:90730042C>T	ENST00000261303.8	+	5	419	c.316C>T	c.(316-318)Ccg>Tcg	p.P106S	PSMC1_ENST00000543772.2_Missense_Mutation_p.P33S	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	106					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|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		GAGGGGGACCCCGATGTCAGT	0.433000													22	70					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019909	56019909	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:56019909G>A	ENST00000303059.3	+	1	234	c.234G>A	c.(232-234)ttG>ttA	p.L78L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGGTTGTGTTGGTCATTGAGG	0.378000													29	71					0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3823908	3823908	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:3823908G>A	ENST00000497571.1	-	2	861	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	KLF6_ENST00000469435.1_Missense_Mutation_p.R201W|KLF6_ENST00000173785.4_Intron|KLF6_ENST00000542957.1_Missense_Mutation_p.R201W	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	201					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		AAGTGGCACCGGTGCACCCTC	0.647000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	62					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609813	117609813	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:117609813C>T	ENST00000368508.3	-	43	7084	c.6886G>A	c.(6886-6888)Gaa>Aaa	p.E2296K	ROS1_ENST00000368507.3_Missense_Mutation_p.E2290K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2296					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E2296K(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GATTCAGATTCCTGGGAGCCT	0.453000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								23	58					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796603	109796603	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:109796603C>T	ENST00000297459.3	-	2	903	c.725G>A	c.(724-726)gGg>gAg	p.G242E	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	242					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GATGACGCCCCCCAGCGTGAG	0.587000													24	62					0	0	1	0	0
ERI2	112479	broad.mit.edu	37	16	20810648	20810648	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:20810648G>A	ENST00000564349.1	-	9	865	c.390C>T	c.(388-390)gcC>gcT	p.A130A	ERI2_ENST00000563117.1_Silent_p.A130A|ERI2_ENST00000357967.4_Silent_p.A223A|ERI2_ENST00000389345.5_5'UTR|ERI2_ENST00000569729.1_Silent_p.A223A|ERI2_ENST00000300005.3_Silent_p.A223A			A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	223	Exonuclease.					intracellular	exonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						AAGCAAGAAGGGCAGTATTCC	0.358000													29	78					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65197525	65197525	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:65197525C>T	ENST00000247226.7	+	4	715	c.407C>T	c.(406-408)gCc>gTc	p.A136V	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.A192V	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	192	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGCTCCGTGGCCGCCCTGACG	0.642000													9	34					0	0	1	0	0
SCLY	51540	broad.mit.edu	37	2	239006844	239006844	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:239006844C>T	ENST00000254663.6	+	12	1352	c.1208_splice	c.e12-1	p.P404_splice	SCLY_ENST00000555827.1_Splice_Site_p.P396_splice|SCLY_ENST00000429612.2_Splice_Site_p.P190_splice|SCLY_ENST00000422984.2_Splice_Site_p.P302_splice	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	396					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CCTCCCCAGGCCGTCCCCAGT	0.697000													9	17					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739209	15739209	+	RNA	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:15739209G>A	ENST00000441682.2	+	0	1274							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTGCACCCAGGACGTGGTGCT	0.667000													47	110					0	0	1	0	0
LRRC34	151827	broad.mit.edu	37	3	169525457	169525457	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:169525457G>A	ENST00000522526.2	-	3	735	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	LRRC34_ENST00000316515.7_Missense_Mutation_p.R87C|LRRC34_ENST00000522830.1_Missense_Mutation_p.R39C|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000446859.1_Missense_Mutation_p.R100C			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	87										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GGCACTAAGCGATTGTTACCA	0.294000													8	38					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43119576	43119576	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:43119576G>A	ENST00000428554.2	+	23	3372	c.2229G>A	c.(2227-2229)aaG>aaA	p.K743K	CCDC30_ENST00000390640.4_Silent_p.K532K|CCDC30_ENST00000507855.1_Silent_p.K532K|CCDC30_ENST00000342022.4_Silent_p.K743K|CCDC30_ENST00000340612.4_Silent_p.K743K			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	743										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						CAAGTTCAAAGTCCCCTGAAA	0.403000													27	61					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604201	179604201	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:179604201C>T	ENST00000589042.1	-	48	13983	c.13759G>A	c.(13759-13761)Gag>Aag	p.E4587K	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4349K|TTN_ENST00000342175.6_Missense_Mutation_p.E4416K|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E4270K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4224K|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4270	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGCAACCTCCTCAGTACCA	0.453000													20	76					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103306741	103306741	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:103306741C>T	ENST00000375735.2	+	85	12581	c.12437C>T	c.(12436-12438)gCc>gTc	p.A4146V	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.A4153V|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.A759V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4146					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGTCTTGTTGCCCGTGCCCTT	0.418000													13	14					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023211	76023211	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:76023211G>A	ENST00000393004.2	-	5	2558	c.2337C>T	c.(2335-2337)tcC>tcT	p.S779S	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.S680S|FILIP1_ENST00000237172.7_Silent_p.S779S			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	779										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGTAGCGCTTGGAAAGCTCCA	0.443000													54	103					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62302497	62302497	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:62302497G>A	ENST00000378024.4	-	4	594	c.320C>T	c.(319-321)tCc>tTc	p.S107F	AHNAK_ENST00000257247.7_Missense_Mutation_p.S107F|AHNAK_ENST00000530124.1_Missense_Mutation_p.S107F	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	107					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGAGCTGCAGGAGCTGAAGAC	0.667000													17	38					0	0	1	0	0
ART3	419	broad.mit.edu	37	4	77003191	77003191	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:77003191G>A	ENST00000355810.4	+	3	403	c.284G>A	c.(283-285)gGa>gAa	p.G95E	ART3_ENST00000349321.3_Missense_Mutation_p.G95E|ART3_ENST00000341029.5_Missense_Mutation_p.G95E|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	95					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATAACCATGGAATAGCCCTG	0.438000													31	93					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395143	115395143	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:115395143G>A	ENST00000393780.3	+	3	890	c.422G>A	c.(421-423)gGa>gAa	p.G141E	GAP43_ENST00000305124.6_Missense_Mutation_p.G105E	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	105					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GGCAAAGCAGGAGAAACTCCT	0.637000													25	37					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171112	150171112	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:150171112G>A	ENST00000307271.3	+	4	1269	c.695G>A	c.(694-696)aGg>aAg	p.R232K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	232						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCAAGGGAAAGGCAGCTGCAG	0.527000													32	90					0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10866644	10866644	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:10866644C>T	ENST00000381661.3	+	3	255	c.146C>T	c.(145-147)tCc>tTc	p.S49F	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.S49F	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	49					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		ACCTTGGATTCCCTGGTTGGC	0.458000													25	53					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962223	34962223	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:34962223G>A	ENST00000329357.5	+	1	1311	c.1275G>A	c.(1273-1275)ccG>ccA	p.P425P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	425								p.P425P(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCTCTGCCCGGAGCCTACCA	0.547000													38	54					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242755860	242755860	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:242755860C>T	ENST00000391969.2	+	3	890	c.179C>T	c.(178-180)aCg>aTg	p.T60M	NEU4_ENST00000405370.1_Missense_Mutation_p.T60M|NEU4_ENST00000407683.1_Missense_Mutation_p.T60M|NEU4_ENST00000325935.6_Missense_Mutation_p.T73M|NEU4_ENST00000404257.1_Missense_Mutation_p.T72M	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	60						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGGAGGGGCACGCTGGCCGGG	0.746000													4	7					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150721039	150721039	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:150721039C>T	ENST00000605938.1	-	1	547	c.472G>A	c.(472-474)Gac>Aac	p.D158N	ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.D158N|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Missense_Mutation_p.D158N	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	158					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCTCAGGGTCACAGTCCTCC	0.632000													3	9					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75434908	75434908	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:75434908C>T	ENST00000341669.3	-	5	2402	c.1859G>A	c.(1858-1860)gGa>gAa	p.G620E	KCNC2_ENST00000298972.1_3'UTR|RP11-81K13.1_ENST00000547040.1_RNA|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000350228.2_3'UTR|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000548513.1_3'UTR|KCNC2_ENST00000549446.1_3'UTR|KCNC2_ENST00000550433.1_Missense_Mutation_p.G620E	NM_001260498.1	NP_001247427.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	0					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AAGTCTGTTTCCAGTATAGTC	0.433000													14	41					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20005705	20005705	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:20005705C>T	ENST00000396085.1	+	11	3041	c.2680C>T	c.(2680-2682)Cgt>Tgt	p.R894C	NAV2_ENST00000540292.1_Missense_Mutation_p.R848C|NAV2_ENST00000396087.3_Missense_Mutation_p.R917C|NAV2_ENST00000360655.4_Missense_Mutation_p.R830C|NAV2_ENST00000349880.4_Missense_Mutation_p.R894C|NAV2_ENST00000527559.2_Missense_Mutation_p.R846C	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	917						nucleus	ATP binding|helicase activity	p.R917S(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTCTATACCCGTCGCCTGAA	0.532000													34	94					0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7436358	7436358	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:7436358C>T	ENST00000319098.4	-	1	342	c.249G>A	c.(247-249)acG>acA	p.T83T	SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	83	Saposin B-type 1.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						TGTCAGACTCCGTGGCGTCAG	0.607000													8	22					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31685104	31685104	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:31685104G>A	ENST00000261592.5	-	3	732	c.435C>T	c.(433-435)ttC>ttT	p.F145F	NOL4_ENST00000589544.1_Silent_p.F145F|NOL4_ENST00000538587.1_Silent_p.F71F|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000269185.4_Silent_p.F31F	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	145						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTCTTGGTAGGAAGGCATAGC	0.383000													32	73					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78604228	78604228	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:78604228A>T	ENST00000397909.2	+	40	7262	c.7089A>T	c.(7087-7089)caA>caT	p.Q2363H	NAV3_ENST00000228327.6_Missense_Mutation_p.Q2341H|NAV3_ENST00000541270.1_Missense_Mutation_p.Q193H|NAV3_ENST00000536525.2_Missense_Mutation_p.Q2341H|NAV3_ENST00000266692.7_Missense_Mutation_p.Q2164H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2363						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CGAGCACACAAAGCTGCGACA	0.413000										HNSCC(70;0.22)			18	56					0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62327225	62327225	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:62327225G>A	ENST00000378019.3	-	10	1480	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	EEF1G_ENST00000329251.4_Nonsense_Mutation_p.R414*|MIR3654_ENST00000496634.2_3'UTR			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	414					response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGTACTCTCGAACCAGCGTC	0.547000													13	27					0	0	1	0	0
ARMS2	387715	broad.mit.edu	37	10	124214296	124214296	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:124214296G>A	ENST00000528446.1	+	1	128	c.53G>A	c.(52-54)gGg>gAg	p.G18E		NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN	age-related maculopathy susceptibility 2	18					retina homeostasis	mitochondrion|photoreceptor inner segment				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGGAAAGGAGGGCCTGAGATG	0.577000													34	97					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039706	2039706	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:2039706C>T	ENST00000382203.1	+	4	805	c.596C>T	c.(595-597)cCc>cTc	p.P199L	SMARCA2_ENST00000357248.2_Missense_Mutation_p.P199L|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P199L|SMARCA2_ENST00000349721.2_Missense_Mutation_p.P199L			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	199					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAGCCCCTCCCCGAAACGCTG	0.582000													16	26					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138857016	138857016	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chrX:138857016G>A	ENST00000370557.1	-	19	3076	c.2049C>T	c.(2047-2049)tcC>tcT	p.S683S	ATP11C_ENST00000327569.3_Silent_p.S686S|ATP11C_ENST00000361648.2_Silent_p.S686S|ATP11C_ENST00000370543.1_Silent_p.S686S|ATP11C_ENST00000359686.2_Silent_p.S686S|ATP11C_ENST00000460773.1_5'UTR			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	686					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CATAGCATGTGGATTTAGCTG	0.478000													40	53					0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635309	34635309	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:34635309C>T	ENST00000342136.4	+	9	1378	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F	AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S351F			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	351					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GGTCAGGCCTCTGCCACCTCT	0.572000													40	65					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100177399	100177399	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:100177399G>A	ENST00000325103.6	-	20	2258	c.2025C>T	c.(2023-2025)atC>atT	p.I675I	HPS1_ENST00000361490.4_Silent_p.I675I|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	675					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GGTCAGTGGGGATGACAGACA	0.677000									Hermansky-Pudlak syndrome				7	35					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102338740	102338740	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:102338740G>A	ENST00000438793.3	+	16	2087	c.1617G>A	c.(1615-1617)tcG>tcA	p.S539S	PAM_ENST00000304400.7_Silent_p.S539S|PAM_ENST00000348126.2_Silent_p.S432S|PAM_ENST00000274392.9_Silent_p.S442S|PAM_ENST00000346918.2_Silent_p.S539S|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_Silent_p.S539S	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	539	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGTTTAGCTCGTTTGACAGCA	0.348000													11	31					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61559949	61559949	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:61559949C>T	ENST00000290866.4	+	8	1265	c.1241C>T	c.(1240-1242)cCc>cTc	p.P414L	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.P414L|ACE_ENST00000428043.1_Missense_Mutation_p.P414L	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	414	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGGGCCAACCCCGGCTTCCAT	0.597000													41	124					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432870	104432870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr9:104432870C>T	ENST00000361820.3	-	3	2424	c.1824G>A	c.(1822-1824)tgG>tgA	p.W608*		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	608					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCCCATTTTTCCATGCTCCAT	0.483000													29	49					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36932730	36932730	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:36932730G>A	ENST00000262865.4	+	1	206	c.117G>A	c.(115-117)agG>agA	p.R39R	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	39					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCGTGGTCAGGATCTCCCAGA	0.632000													28	44					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3678655	3678655	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:3678655G>A	ENST00000344754.4	-	8	1911	c.1912C>T	c.(1912-1914)Cac>Tac	p.H638Y	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.H638Y	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	638	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGGTCCTTGTGGAGCAGCTGC	0.672000													23	47					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207684981	207684981	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:207684981G>A	ENST00000367049.4	+	4	469	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	CR1_ENST00000367052.1_Missense_Mutation_p.E157K|CR1_ENST00000400960.2_Missense_Mutation_p.E157K|CR1_ENST00000367053.1_Missense_Mutation_p.E157K|CR1_ENST00000367051.1_Missense_Mutation_p.E157K|CR1_ENST00000367050.4_3'UTR	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	157	Sushi 2.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTGGGATAATGAAACACCTAT	0.353000													16	61					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31367975	31367975	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:31367975C>A	ENST00000268296.4	+	3	294	c.173C>A	c.(172-174)aCa>aAa	p.T58K	ITGAX_ENST00000562522.1_Missense_Mutation_p.T58K|ITGAX_ENST00000562918.1_3'UTR	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	58					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAAAAGATAACAGCTGCCAAC	0.607000													3	6					1	1	1	1	0
CCDC105	126402	broad.mit.edu	37	19	15132481	15132481	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:15132481G>A	ENST00000292574.3	+	5	1177	c.1095G>A	c.(1093-1095)acG>acA	p.T365T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	365					microtubule cytoskeleton organization	microtubule		p.T365T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TCCGGTGTACGAAATATAACC	0.592000													18	48					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7736843	7736843	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:7736843G>A	ENST00000572933.1	+	86	14736	c.13276G>A	c.(13276-13278)Gac>Aac	p.D4426N	DNAH2_ENST00000389173.2_Missense_Mutation_p.D4426N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4426					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CATGAGCCTGGACAGCTGAGA	0.577000													15	49					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23858602	23858602	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:23858602C>T	ENST00000405093.3	-	28	4048	c.3978_splice	c.e28+1	p.K1326_splice	MYH6_ENST00000356287.3_Splice_Site_p.K1326_splice	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1326					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGGCCTCACCTTGCCCTCCT	0.587000													27	81					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43547663	43547663	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:43547663G>A	ENST00000395891.1	+	23	4404	c.3799G>A	c.(3799-3801)Gtg>Atg	p.V1267M	HECW1_ENST00000453890.1_Missense_Mutation_p.V1233M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1267					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTTCAATCAGGTGATGGCCTA	0.532000													18	41					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799452	5799452	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:5799452G>A	ENST00000317093.2	-	1	445	c.413C>T	c.(412-414)cCt>cTt	p.P138L	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATAACGCAAAGGGTAGCAAAT	0.512000													48	77					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131562	45131562	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:45131562C>T	ENST00000457685.2	-	6	1625	c.302G>A	c.(301-303)gGa>gAa	p.G101E	ZNF334_ENST00000347606.4_Missense_Mutation_p.G139E|ZNF334_ENST00000593880.1_Missense_Mutation_p.G162E			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ACTGTTTCCTCCTGGATTACA	0.353000													25	48					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102361015	102361015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:102361015G>A	ENST00000438793.3	+	23	3136	c.2666G>A	c.(2665-2667)tGg>tAg	p.W889*	PAM_ENST00000304400.7_Nonsense_Mutation_p.W889*|PAM_ENST00000348126.2_Nonsense_Mutation_p.W782*|PAM_ENST00000274392.9_Nonsense_Mutation_p.W791*|PAM_ENST00000346918.2_Intron|PAM_ENST00000379787.4_Nonsense_Mutation_p.W269*|PAM_ENST00000455264.2_Intron	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	889					peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TTTATTCGGTGGAAAAAATCA	0.473000													35	82					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132401997	132401997	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:132401997C>T	ENST00000321867.4	+	22	2575	c.2224C>T	c.(2224-2226)Cgt>Tgt	p.R742C		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	742					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCCAGGAGCCCGTGCTGGGGG	0.706000													4	5					0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44589357	44589357	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:44589357C>T	ENST00000245121.5	+	6	542	c.348C>T	c.(346-348)gaC>gaT	p.D116D	KATNAL2_ENST00000356157.7_Silent_p.D188D|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	188						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AAATCATTGACTTCCAAGGGC	0.443000													5	77					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88729587	88729587	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:88729587G>A	ENST00000340700.5	-	2	797	c.346C>T	c.(346-348)Cat>Tat	p.H116Y	KCNK10_ENST00000312350.5_Missense_Mutation_p.H121Y|KCNK10_ENST00000319231.5_Missense_Mutation_p.H121Y	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	116					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						ACACAGACATGATCCCGCAGG	0.577000													23	45					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921397	247921397	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:247921397G>A	ENST00000408896.2	-	1	585	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAAAAGAAACGAAGAAGAAGA	0.473000													43	53					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17370472	17370472	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:17370472C>G	ENST00000242057.4	+	6	1310	c.667C>G	c.(667-669)Cgt>Ggt	p.R223G		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	223					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CTTCATATGTCGTCTAAGGTG	0.403000													19	41					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954741	70954741	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:70954741C>T	ENST00000393567.2	-	46	7688	c.7538G>A	c.(7537-7539)aGa>aAa	p.R2513K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2513										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				caggcgctctctctcccGGTC	0.711000													10	9					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151894515	151894515	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:151894515G>A	ENST00000367290.5	+	6	1070	c.981G>A	c.(979-981)agG>agA	p.R327R	CCDC170_ENST00000239374.7_Silent_p.R327R			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	327																	TCTCATTTAGGGAGAAAATCG	0.488000													19	49					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401009	11401009	+	Silent	SNP	G	G	A	rs139094851		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:11401009G>A	ENST00000002596.5	-	2	1795	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	207						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.F207F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGCGCAGCGGGAAAAAGCGCA	0.597000													17	27					0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134871868	134871868	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:134871868G>A	ENST00000344400.5	-	13	1883	c.1822C>T	c.(1822-1824)Ccc>Tcc	p.P608S	WDR91_ENST00000354475.4_Silent_p.L645L|WDR91_ENST00000423565.1_Silent_p.L610L			A4D1P6	WDR91_HUMAN	WD repeat domain 91	0										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CATCTGAGGGGAGGCTGTACT	0.592000													31	84					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105510108	105510108	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:105510108G>A	ENST00000276654.5	-	5	780	c.672C>T	c.(670-672)tcC>tcT	p.S224S	LRP12_ENST00000424843.2_Silent_p.S205S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	224	LDL-receptor class A 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTAAAACGGGATAAACACT	0.448000													41	98					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134212670	134212670	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:134212670C>T	ENST00000535456.2	+	2	297	c.109C>T	c.(109-111)Cct>Tct	p.P37S	GLB1L2_ENST00000339772.7_Missense_Mutation_p.P37S|GLB1L2_ENST00000389881.3_Missense_Mutation_p.P37S	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	37					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CACCCTGGTCCCTCTGCGGCT	0.632000													17	48					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56342326	56342326	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:56342326G>A	ENST00000262290.4	+	10	1826	c.1510G>A	c.(1510-1512)Gtc>Atc	p.V504I	LPO_ENST00000582328.1_Missense_Mutation_p.V421I|LPO_ENST00000421678.2_Missense_Mutation_p.V421I|LPO_ENST00000543544.1_Missense_Mutation_p.V445I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	504					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TTGGAGGATGGTCAAAGATGG	0.537000													16	60					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23907842	23907842	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:23907842G>T	ENST00000382298.3	-	10	10761	c.10173C>A	c.(10171-10173)ttC>ttA	p.F3391L	SACS_ENST00000382292.3_Missense_Mutation_p.F3391L|SACS_ENST00000402364.1_Missense_Mutation_p.F2641L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3391					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATTGCAGTTGAAATACATCA	0.348000													32	86					1.06801e-11	1.08441e-11	1	1	0
PCK1	5105	broad.mit.edu	37	20	56137166	56137166	+	Silent	SNP	C	C	T	rs144697339	byFrequency	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:56137166C>T	ENST00000319441.4	+	3	428	c.264C>T	c.(262-264)atC>atT	p.I88I	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	88					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGGCCAGGATCGAAAGCAAGA	0.562000													16	46					0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40887038	40887038	+	Missense_Mutation	SNP	G	G	A	rs145519209		TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:40887038G>A	ENST00000291823.2	-	3	1144	c.860C>T	c.(859-861)tCg>tTg	p.S287L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	287	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTGGTCCAACGACTTGAGCAT	0.632000													20	53					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072006	17072006	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:17072006C>T	ENST00000359963.3	-	1	1694	c.1435G>A	c.(1435-1437)Ggt>Agt	p.G479S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	479					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTTCCCACACCCATTAGGAGG	0.507000													52	136					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56435906	56435906	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:56435906G>A	ENST00000327381.5	+	3	1173	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	358						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AAGGCCCTCCGGGACTCTCGA	0.577000													25	54					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50900658	50900658	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr22:50900658G>C	ENST00000380817.2	-	19	2555	c.2372C>G	c.(2371-2373)gCc>gGc	p.A791G	SBF1_ENST00000390679.3_Missense_Mutation_p.A791G|SBF1_ENST00000348911.6_Missense_Mutation_p.A792G	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	791					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCTGTTGCTGGCGCTCTCCAG	0.667000													28	67					0	0	1	0	0
C10orf107	219621	broad.mit.edu	37	10	63520681	63520681	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:63520681G>A	ENST00000330194.2	+	6	777	c.472G>A	c.(472-474)Gat>Aat	p.D158N		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	158										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					CTCAGACATGGATCCTTTAGT	0.403000													27	55					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215884364	215884364	+	Missense_Mutation	SNP	C	C	T	rs150321357	byFrequency	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:215884364C>T	ENST00000272895.7	-	12	1663	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	ABCA12_ENST00000389661.4_Missense_Mutation_p.E164K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	482					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCTGCTATTTCGGTGCCCAGC	0.433000													24	54					0	0	1	0	0
SLC30A6	55676	broad.mit.edu	37	2	32400423	32400423	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:32400423C>T	ENST00000282587.5	+	4	248	c.211C>T	c.(211-213)Ctt>Ttt	p.L71F	SLC30A6_ENST00000357055.3_Intron|SLC30A6_ENST00000379343.2_Missense_Mutation_p.L71F|SLC30A6_ENST00000435660.1_Missense_Mutation_p.L71F|SLC30A6_ENST00000406369.1_Intron|SLC30A6_ENST00000538303.1_Missense_Mutation_p.L42F	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	71						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CATTTTTGATCTTTTTAGGTA	0.313000													12	24					0	0	1	0	0
CCDC126	90693	broad.mit.edu	37	7	23682576	23682576	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr7:23682576C>T	ENST00000307471.3	+	4	722	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F	CCDC126_ENST00000410069.1_Missense_Mutation_p.L89F|CCDC126_ENST00000409765.1_Missense_Mutation_p.L89F	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	89						extracellular region				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						AATTGCTGTCCTTCTGGATGA	0.378000													23	66					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119013973	119013973	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:119013973G>A	ENST00000298472.5	+	6	808	c.665G>A	c.(664-666)gGa>gAa	p.G222E	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	222					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AACGTCATGGGAATCGCCTTG	0.592000													13	46					0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	99980236	99980236	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:99980236A>G	ENST00000289371.5	+	5	1250	c.1048A>G	c.(1048-1050)Aag>Gag	p.K350E		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	350					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCTCTGGCTAAGCTTAAAGA	0.373000													12	53					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120769326	120769326	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:120769326C>T	ENST00000527524.2	+	12	1537	c.1250C>T	c.(1249-1251)aCc>aTc	p.T417I	GRIK4_ENST00000438375.2_Missense_Mutation_p.T417I			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	417					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TTCAACACCACCCTGGTCGTC	0.627000													7	30					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332969	70332969	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:70332969G>A	ENST00000338508.4	-	32	3431	c.3432C>T	c.(3430-3432)tcC>tcT	p.S1144S	SHANK2_ENST00000449833.2_Silent_p.S548S|SHANK2_ENST00000423696.2_Silent_p.S764S|SHANK2_ENST00000409161.1_Silent_p.S547S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	764					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCGGCATGGGGGATGACAGCT	0.682000													38	22					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863664	55863664	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:55863664C>T	ENST00000327335.4	-	1	258	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						ATGGTCTTTTCCCTGGTAACA	0.383000													24	68					0	0	1	0	0
ORAOV1	220064	broad.mit.edu	37	11	69482731	69482731	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:69482731G>A	ENST00000279147.4	-	4	384	c.277C>T	c.(277-279)Cct>Tct	p.P93S	ORAOV1_ENST00000536870.1_Missense_Mutation_p.P34S|ORAOV1_ENST00000535657.1_Missense_Mutation_p.P93S|ORAOV1_ENST00000539414.1_Missense_Mutation_p.P93S	NM_153451.2	NP_703152.1	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	93										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			TCATCATAAGGGAATTTCTGG	0.413000													24	51					0	0	1	0	0
CIB4	130106	broad.mit.edu	37	2	26806663	26806663	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:26806663C>T	ENST00000288861.4	-	5	485	c.432G>A	c.(430-432)acG>acA	p.T144T	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	144	EF-hand 3.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACGTGGTTCGTGAGGTCCA	0.582000													26	71					0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158541955	158541955	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:158541955C>T	ENST00000415822.2	+	13	1506	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	MFSD1_ENST00000392813.4_Silent_p.I416I|MFSD1_ENST00000264266.8_Silent_p.I406I	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	406					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCATTTCCATCATTGCTGGTA	0.378000													125	339					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926430	1926430	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:1926430T>C	ENST00000399161.2	-	10	1858	c.1111A>G	c.(1111-1113)Acg>Gcg	p.T371A	MYT1L_ENST00000428368.2_Missense_Mutation_p.T371A	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	371					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTGTCCGGCGTCCTTCCGGGG	0.602000													12	31					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130871272	130871272	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:130871272C>T	ENST00000383366.4	+	8	981	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	NEK11_ENST00000508196.1_Missense_Mutation_p.H230Y|NEK11_ENST00000511262.1_Missense_Mutation_p.H230Y|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000510688.1_Missense_Mutation_p.H230Y|NEK11_ENST00000510769.1_Intron|NEK11_ENST00000412440.2_Missense_Mutation_p.H82Y|NEK11_ENST00000356918.4_Missense_Mutation_p.H230Y|NEK11_ENST00000507910.1_Missense_Mutation_p.H230Y|NEK11_ENST00000429253.2_Missense_Mutation_p.H230Y	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	230	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.H230D(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CTGCATGAATCATGCATTCGC	0.343000													34	83					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53207919	53207919	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:53207919C>T	ENST00000293774.4	-	1	416	c.146G>A	c.(145-147)cGa>cAa	p.R49Q	KRT4_ENST00000551956.1_5'UTR			B4DRS2	B4DRS2_HUMAN	keratin 4	0						keratin filament	structural molecule activity	p.R49P(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCTCAGCCTTCGTCTCTTATA	0.567000													23	57					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64595015	64595015	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:64595015G>A	ENST00000342711.5	-	32	4133	c.4134C>T	c.(4132-4134)ctC>ctT	p.L1378L		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1378					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCTGGTTCCTGAGGTAGGTCA	0.662000													17	38					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48088624	48088624	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:48088624G>A	ENST00000264316.4	-	10	900	c.815C>T	c.(814-816)gCt>gTt	p.A272V		NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	272	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CTTTATAAAAGCCAACTCAGA	0.403000													25	67					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589810	156589810	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:156589810C>T	ENST00000302938.4	-	2	1561	c.1466G>A	c.(1465-1467)aGg>aAg	p.R489K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	489						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCGCTTGCCCCTTACGTTGCT	0.517000													36	137					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184008945	184008945	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:184008945G>A	ENST00000402825.3	+	17	2306	c.2306G>A	c.(2305-2307)gGg>gAg	p.G769E	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.G651E|ECE2_ENST00000357474.5_Missense_Mutation_p.G697E|ECE2_ENST00000359140.4_Missense_Mutation_p.G622E	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	769	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGTCAATGGGGAGAGGCTC	0.617000													39	83					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7695570	7695570	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:7695570G>A	ENST00000572933.1	+	46	8514	c.7053_splice	c.e46-1	p.D2352_splice	DNAH2_ENST00000389173.2_Splice_Site_p.D2352_splice			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2352					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCTCCTTAGGACACGGTATA	0.522000													17	59					0	0	1	0	0
SCGB1D2	10647	broad.mit.edu	37	11	62010915	62010915	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:62010915C>T	ENST00000244926.3	+	2	308	c.210C>T	c.(208-210)tcC>tcT	p.S70S	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	70						extracellular space	binding			breast(1)|endometrium(1)|lung(1)	3						ATCAGATGTCCCTTCAGAAAC	0.463000													38	92					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182360570	182360570	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:182360570G>A	ENST00000397033.2	+	14	1876	c.1446G>A	c.(1444-1446)acG>acA	p.T482T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	482					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAAATAGAACGAAATTTGACT	0.388000													38	103					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2690858	2690858	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:2690858C>T	ENST00000399655.1	+	14	2263	c.1998C>T	c.(1996-1998)tcC>tcT	p.S666S	CACNA1C_ENST00000399603.1_Silent_p.S666S|CACNA1C_ENST00000402845.3_Silent_p.S666S|CACNA1C_ENST00000399591.1_Silent_p.S666S|CACNA1C_ENST00000344100.3_Silent_p.S666S|CACNA1C_ENST00000335762.5_Silent_p.S691S|CACNA1C_ENST00000399601.1_Silent_p.S666S|CACNA1C_ENST00000406454.3_Silent_p.S666S|CACNA1C_ENST00000399597.1_Silent_p.S666S|CACNA1C_ENST00000347598.4_Silent_p.S666S|CACNA1C_ENST00000399629.1_Silent_p.S666S|CACNA1C_ENST00000480911.1_Silent_p.S666S|CACNA1C_ENST00000327702.7_Silent_p.S666S|CACNA1C_ENST00000399634.1_Silent_p.S666S|CACNA1C_ENST00000399638.1_Silent_p.S666S|CACNA1C_ENST00000399621.1_Silent_p.S666S|CACNA1C_ENST00000399641.1_Silent_p.S666S|CACNA1C_ENST00000399606.1_Silent_p.S666S|CACNA1C_ENST00000399595.1_Silent_p.S666S|CACNA1C_ENST00000399649.1_Silent_p.S666S|CACNA1C_ENST00000399617.1_Silent_p.S666S|CACNA1C_ENST00000399637.1_Silent_p.S666S|CACNA1C_ENST00000399644.1_Silent_p.S666S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	666					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	tcatcttctccctcctGGGGA	0.537000													12	14					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21038411	21038411	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:21038411G>A	ENST00000261383.3	-	38	5477	c.5478C>T	c.(5476-5478)tcC>tcT	p.S1826S	DNAH3_ENST00000415178.1_Silent_p.S1826S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1826	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCTCATCTTGGAGTTCATCT	0.552000													11	33					0	0	1	0	0
CHIC2	26511	broad.mit.edu	37	4	54876273	54876273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:54876273G>A	ENST00000263921.3	-	6	876	c.487C>T	c.(487-489)Cga>Tga	p.R163*	CHIC2_ENST00000512964.1_Nonsense_Mutation_p.R144*|FIP1L1_ENST00000507166.1_Intron	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	163						plasma membrane	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TAATCTGGTCGAAAAATCGGT	0.338000			T	ETV6	AML								13	30					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38591838	38591838	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:38591838C>T	ENST00000413689.1	-	28	6218	c.6025G>A	c.(6025-6027)Gac>Aac	p.D2009N	SCN5A_ENST00000425664.1_Missense_Mutation_p.D1991N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1991N|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1955N|SCN5A_ENST00000333535.4_Missense_Mutation_p.D2009N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1955N|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1955N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D2008N|SCN5A_ENST00000443581.1_Missense_Mutation_p.D2008N|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1976N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	2009					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGTCCCTGTCCGGAGAAGGG	0.572000													35	110					0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159154116	159154116	+	Silent	SNP	T	T	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:159154116T>C	ENST00000514558.1	+	6	2273	c.477T>C	c.(475-477)acT>acC	p.T159T	TMEM144_ENST00000296529.6_Silent_p.T159T			Q7Z5S9	TM144_HUMAN	transmembrane protein 144	159						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TGGATACCACTCCATTAATAA	0.269000													13	28					0	0	1	0	0
C4BPB	725	broad.mit.edu	37	1	207273196	207273196	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:207273196G>A	ENST00000243611.5	+	6	975	c.681G>A	c.(679-681)aaG>aaA	p.K227K	C4BPB_ENST00000391923.1_Silent_p.K227K|C4BPB_ENST00000367078.3_Silent_p.K227K|C4BPB_ENST00000367076.3_Silent_p.K226K|C4BPB_ENST00000470767.1_3'UTR	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	227					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						AACAATTAAAGGAAAGTGGCA	0.393000													28	64					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646454	57646454	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:57646454C>T	ENST00000269834.1	-	5	1636	c.1251G>A	c.(1249-1251)agG>agA	p.R417R		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCTATAGGTCCTCTCTCCGC	0.393000													39	145					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57867741	57867741	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:57867741G>A	ENST00000391705.3	+	4	788	c.504G>A	c.(502-504)acG>acA	p.T168T	ZNF304_ENST00000598744.1_Silent_p.T126T|ZNF304_ENST00000282286.5_Silent_p.T168T|ZNF304_ENST00000443917.2_Silent_p.T215T	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GATCCTTTACGTGCAGGGAGG	0.498000													20	62					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876418	18876418	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:18876418C>T	ENST00000266505.7	-	4	457	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.R63Q			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	65	EF-hand.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R65Q(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CGTGATAATTCGATAAATTGC	0.343000													17	44					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182363375	182363375	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:182363375T>A	ENST00000397033.2	+	15	1996	c.1566T>A	c.(1564-1566)gaT>gaA	p.D522E		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	522					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGAGTTTGGATGTGAACAGAA	0.333000													21	43					0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241569976	241569976	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:241569976C>T	ENST00000319838.5	+	6	1549	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	GPR35_ENST00000407714.1_Missense_Mutation_p.P203S|GPR35_ENST00000403859.1_Missense_Mutation_p.P203S|GPR35_ENST00000438013.2_Missense_Mutation_p.P234S|GPR35_ENST00000430267.1_Missense_Mutation_p.P203S	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	203						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CCAGAGGCCACCCACCGACGT	0.667000													23	47					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48650043	48650043	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr17:48650043G>A	ENST00000352832.5	+	6	1247	c.875G>A	c.(874-876)gGg>gAg	p.G292E	CACNA1G_ENST00000507336.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G292E|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G292E|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G292E|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G292E|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G292E|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G292E|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G292E|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G292E|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G292E|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G292E|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G292E	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	292	Poly-Gly.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGCGGGGACGGGGGCGGTGGC	0.622000													12	18					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119087271	119087271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:119087271C>T	ENST00000264245.4	+	3	788	c.256C>T	c.(256-258)Cag>Tag	p.Q86*		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	86	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGTGTACCTCCAGGACATCCA	0.502000													19	71					0	0	1	0	0
CIB2	10518	broad.mit.edu	37	15	78401636	78401636	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:78401636G>A	ENST00000258930.3	-	4	615	c.287C>T	c.(286-288)tCc>tTc	p.S96F	CIB2_ENST00000557846.1_Missense_Mutation_p.S47F|CIB2_ENST00000539011.1_Missense_Mutation_p.S53F|CIB2_ENST00000560618.1_Missense_Mutation_p.S53F	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	96	EF-hand 1.						calcium ion binding	p.S96F(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						GCAGAGCACGGAAAACATGTC	0.532000													14	53					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54080838	54080838	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:54080838G>A	ENST00000394705.2	-	2	1326	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	352						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTAAAGAATGAAGCTCCCAT	0.443000													31	82					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987986	182987986	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:182987986C>T	ENST00000326505.3	+	2	930	c.400C>T	c.(400-402)Cct>Tct	p.P134S	MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.P134S|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.P134S|MCF2L2_ENST00000447025.2_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	134					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTTAGGAACTCCTAATCCACT	0.408000													30	66					0	0	1	0	0
CALR3	125972	broad.mit.edu	37	19	16601311	16601311	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:16601311C>T	ENST00000269881.3	-	3	326	c.264G>A	c.(262-264)ggG>ggA	p.G88G	CTD-3222D19.2_ENST00000409035.1_Intron	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	88	N-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CCAGAGTTTTCCCTTTATTGC	0.438000													46	117					0	0	1	0	0
ACPT	93650	broad.mit.edu	37	19	51295399	51295399	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:51295399G>A	ENST00000270593.1	+	5	520	c.520G>A	c.(520-522)Gag>Aag	p.E174K	ACPT_ENST00000270594.3_Intron	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	174						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CGAGGCCGCCGAGTACCAGGA	0.706000													10	18					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399123	22399123	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:22399123G>A	ENST00000263160.3	+	12	2023	c.1586G>A	c.(1585-1587)gGg>gAg	p.G529E		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	529					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GAAGAAACAGGGGACATTACT	0.423000													15	59					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51778369	51778369	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:51778369G>A	ENST00000251076.5	-	23	5670	c.5383C>T	c.(5383-5385)Cct>Tct	p.P1795S	DMXL2_ENST00000449909.3_Missense_Mutation_p.P1159S|DMXL2_ENST00000543779.2_Missense_Mutation_p.P1795S|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1795						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CGCAGGAAAGGATCAGGATGT	0.413000													24	62					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005714	25005714	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:25005714G>A	ENST00000382114.4	-	8	1182	c.997C>T	c.(997-999)Cag>Tag	p.Q333*		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	333						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TCGTCGATCTGAAACAGCTCG	0.438000													61	142					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49309166	49309166	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr15:49309166G>A	ENST00000559471.1	-	10	1561	c.1298C>T	c.(1297-1299)cCa>cTa	p.P433L	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.P388L	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	433										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AATAGGAATTGGAGTCTGAAC	0.373000													20	59					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164489	139164489	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:139164489G>A	ENST00000395297.1	-	13	2399	c.2229C>T	c.(2227-2229)atC>atT	p.I743I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	743										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAGAAGCCTGGATGCCGCTTG	0.517000										HNSCC(54;0.14)			20	49					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228033738	228033738	+	Silent	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:228033738C>T	ENST00000366757.3	+	5	834	c.810C>T	c.(808-810)tcC>tcT	p.S270S		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	270	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAGGCTGCTCCAACCCTCTGT	0.537000													18	53					0	0	1	0	0
C20orf196	149840	broad.mit.edu	37	20	5844062	5844062	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr20:5844062G>A	ENST00000303142.6	+	3	658	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	191										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						ACTGTCAAAGGATATTACTCA	0.498000													27	111					0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57345911	57345911	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:57345911C>T	ENST00000398138.3	-	4	1712	c.856G>A	c.(856-858)Gat>Aat	p.D286N	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	286					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGCTTGGCATCCCAGCCAGCT	0.567000													24	45					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215098	140215098	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:140215098G>A	ENST00000525929.1	+	1	1130	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R377Q|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTTTGACCGAGATTTTGGA	0.507000													59	168					0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94844815	94844815	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr14:94844815C>T	ENST00000448921.1	-	7	1800	c.1228G>A	c.(1228-1230)Gga>Aga	p.G410R	SERPINA1_ENST00000404814.4_Missense_Mutation_p.G410R|SERPINA1_ENST00000449399.3_Missense_Mutation_p.G410R|SERPINA1_ENST00000437397.1_Missense_Mutation_p.G410R|SERPINA1_ENST00000355814.4_Missense_Mutation_p.G410R|SERPINA1_ENST00000440909.1_Missense_Mutation_p.G410R|SERPINA1_ENST00000393088.4_Missense_Mutation_p.G410R|SERPINA1_ENST00000393087.4_Missense_Mutation_p.G410R	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	410				G -> L (in Ref. 24; AA sequence).	acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	ACCACTTTTCCCATGAAGAGG	0.493000													21	69					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32230067	32230067	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:32230067G>A	ENST00000382142.3	-	16	2231	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A	MTMR12_ENST00000280285.5_Silent_p.A633A|MTMR12_ENST00000264934.5_Silent_p.A577A	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	687						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGCCTGGGGGGCCTGCTGGC	0.572000													29	118					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102503334	102503334	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr6:102503334C>T	ENST00000369138.1	+	15	2931	c.2441C>T	c.(2440-2442)gCc>gTc	p.A814V	GRIK2_ENST00000369134.4_Missense_Mutation_p.A765V|GRIK2_ENST00000421544.1_Missense_Mutation_p.A814V|GRIK2_ENST00000369137.3_Missense_Mutation_p.A738V|GRIK2_ENST00000318991.6_Missense_Mutation_p.A814V|GRIK2_ENST00000413795.1_Missense_Mutation_p.A814V	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	814					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GAGGCCAGTGCCCTGGGGGTT	0.483000													35	100					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19747261	19747261	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:19747261C>T	ENST00000507958.1	-	6	1303	c.313G>A	c.(313-315)Gat>Aat	p.D105N	CDH18_ENST00000511273.1_Missense_Mutation_p.D105N|CDH18_ENST00000274170.4_Missense_Mutation_p.D105N|CDH18_ENST00000506372.1_Missense_Mutation_p.D105N|CDH18_ENST00000382275.1_Missense_Mutation_p.D105N|CDH18_ENST00000502796.1_Missense_Mutation_p.D105N			Q13634	CAD18_HUMAN	cadherin 18, type 2	105	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D104_D105>EY(2)|p.D105Y(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCCGTGGTATCGTCAATGATA	0.438000													34	73					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123810043	123810043	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:123810043C>T	ENST00000369005.1	+	3	464	c.124C>T	c.(124-126)Cct>Tct	p.P42S	TACC2_ENST00000515273.1_Missense_Mutation_p.P42S|TACC2_ENST00000513429.1_Missense_Mutation_p.P42S|TACC2_ENST00000358010.1_Missense_Mutation_p.P42S|TACC2_ENST00000334433.3_Missense_Mutation_p.P42S|TACC2_ENST00000515603.1_Missense_Mutation_p.P42S|TACC2_ENST00000453444.2_Missense_Mutation_p.P42S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	42						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCCGGAAGCCCTGACCACAG	0.597000													11	42					0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118517363	118517363	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:118517363G>A	ENST00000359236.5	-	4	989	c.713C>T	c.(712-714)tCg>tTg	p.S238L		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	238	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						CAACATGAACGATCCTGATGC	0.547000													29	107					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31133899	31133899	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:31133899G>A	ENST00000349752.5	-	15	2166	c.1527C>T	c.(1525-1527)atC>atT	p.I509I	GALNT14_ENST00000406653.1_Silent_p.I489I|GALNT14_ENST00000420311.2_Silent_p.I474I|GALNT14_ENST00000356174.3_Silent_p.I476I|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.I514I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	509	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTATGTGCTCGATGTGGGAAC	0.488000													40	74					0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63509920	63509920	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:63509920C>T	ENST00000389100.4	+	4	839	c.767C>T	c.(766-768)tCc>tTc	p.S256F	RNF180_ENST00000296615.6_Missense_Mutation_p.S256F|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	256						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		ACTGCCTATTCCAGACTAAAT	0.348000													39	95					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56578824	56578824	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr12:56578824G>A	ENST00000394023.3	-	4	494	c.389C>T	c.(388-390)tCc>tTc	p.S130F	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.S130F|SMARCC2_ENST00000267064.4_Missense_Mutation_p.S130F|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000347471.4_Missense_Mutation_p.S130F	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	130					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTGCACCAAGGACTTCTCAAT	0.428000													26	64					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182322468	182322468	+	Silent	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr2:182322468G>A	ENST00000397033.2	+	1	517	c.87G>A	c.(85-87)ccG>ccA	p.P29P	ITGA4_ENST00000339307.4_Silent_p.P29P	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	29					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGGGGGTCCCGACCGGCCGCC	0.701000													12	12					0	0	1	0	0
ETFB	2109	broad.mit.edu	37	19	51869540	51869540	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:51869540A>G	ENST00000309244.4	-	1	132	c.41T>C	c.(40-42)aTc>aCc	p.I14T	CTD-2616J11.11_ENST00000600067.1_Intron	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	14					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		GGCGTAGTCGATGACCCTCTT	0.672000													5	24					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830301	61830301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr10:61830301C>T	ENST00000280772.1	-	37	10529	c.10338G>A	c.(10336-10338)tgG>tgA	p.W3446*	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3446					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTCTGTGTTCCAGATATCTT	0.458000													24	77					0	0	1	0	0
NME3	4832	broad.mit.edu	37	16	1820925	1820925	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:1820925G>A	ENST00000219302.3	-	4	544	c.349C>T	c.(349-351)Ccg>Tcg	p.P117S	NME3_ENST00000563498.1_Missense_Mutation_p.P33S	NM_002513.2	NP_002504.2	Q13232	NDK3_HUMAN	NME/NM23 nucleoside diphosphate kinase 3	117					apoptosis|CTP biosynthetic process|GTP biosynthetic process|induction of apoptosis|UTP biosynthetic process		ATP binding|metal ion binding|nucleoside diphosphate kinase activity			lung(1)	1						GTGCCGGGCGGGGCGTCGGCC	0.726000													18	41					0	0	1	0	0
IFT57	55081	broad.mit.edu	37	3	107885814	107885814	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr3:107885814G>A	ENST00000264538.3	-	8	1115	c.868C>T	c.(868-870)Cat>Tat	p.H290Y	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	290					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			ATTTCATTATGGAGTTTGTCC	0.338000													8	41					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56329477	56329477	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:56329477C>T	ENST00000443188.1	-	4	774	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	NLRP11_ENST00000589093.1_Missense_Mutation_p.E22K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E22K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E22K|NLRP11_ENST00000592953.1_Intron	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	22	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTCTGAAATTCCTTGTCACTG	0.433000													29	55					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157693921	157693921	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr4:157693921C>T	ENST00000502773.1	-	4	1110	c.620G>A	c.(619-621)aGa>aAa	p.R207K	PDGFC_ENST00000542208.1_Missense_Mutation_p.R52K|PDGFC_ENST00000422544.2_Missense_Mutation_p.R207K|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Missense_Mutation_p.R44K	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	207					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CAACTGCCATCTCTCTGGTTC	0.438000													20	60					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366692	248366692	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr1:248366692T>C	ENST00000456743.1	+	1	361	c.323T>C	c.(322-324)cTt>cCt	p.L108P		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACATCACTGCTTGGCTCTGAG	0.463000													110	451					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6937554	6937554	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr19:6937554G>A	ENST00000312053.4	+	20	2587		c.e20-1		EMR1_ENST00000450315.3_Splice_Site|EMR1_ENST00000381404.4_Splice_Site|EMR1_ENST00000250572.8_Splice_Site|EMR1_ENST00000381407.5_Splice_Site	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1						cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCCTTCTCCAGGTACGAGAAG	0.577000													38	112					0	0	1	0	0
CTC-338M12.9	0	broad.mit.edu	37	5	180708658	180708658	+	RNA	DEL	A	A	-			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr5:180708658delA	ENST00000412295.2	+	0	238																											GAGCGGTAGGAGgggggctgg	0.711													5	11	---	---	---	---					
FAM66D	100132923	broad.mit.edu	37	8	11994626	11994627	+	RNA	DEL	GT	GT	-	rs138516564	by1000genomes	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr8:11994626_11994627delGT	ENST00000434078.2	+	0	608					NR_027425.1																						gtatttgtgcgtgtgtgtgtgt	0.510													7	128	---	---	---	---					
EXPH5	23086	broad.mit.edu	37	11	108385329	108385333	+	Frame_Shift_Del	DEL	TCCCT	TCCCT	-			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr11:108385329_108385333delTCCCT	ENST00000265843.4	-	6	1011_1015	c.901_905delAGGGA	c.(901-906)gfs	p.RE301fs	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Frame_Shift_Del_p.RE225fs|EXPH5_ENST00000525344.1_Frame_Shift_Del_p.RE294fs|EXPH5_ENST00000443411.1_Frame_Shift_Del_p.RE113fs	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	301					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GACTCTGGGCTCCCTTGTCCTATAC	0.429													26	42	---	---	---	---					
FAM216B	144809	broad.mit.edu	37	13	43362867	43362881	+	In_Frame_Del	DEL	CCTGTATCTGTGGTT	CCTGTATCTGTGGTT	-			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr13:43362867_43362881delCCTGTATCTGTGGTT	ENST00000537894.1	+	4	484_498	c.361_375delCCTGTATCTGTGGTT	c.(361-375)del	p.PVSVV121del	FAM216B_ENST00000313851.1_In_Frame_Del_p.PVSVV121del	NM_182508.2	NP_872314.1	Q8N7L0	CM030_HUMAN	family with sequence similarity 216, member B	121																	ATCAGTACTACCTGTATCTGTGGTTCTACCTAGGG	0.474													12	71	---	---	---	---					
CYB5B	80777	broad.mit.edu	37	16	69493023	69493027	+	Splice_Site	DEL	AGGTT	AGGTT	-			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr16:69493023_69493027delAGGTT	ENST00000512062.1	+	4	520_521	c.350_splice	c.e4+1	p.117_splice	CYB5B_ENST00000307892.8_Splice_Site_p.121_splice|CYB5B_ENST00000515314.1_Intron|CYB5B_ENST00000561792.1_Splice_Site_p.117_splice			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	117					electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				TACATGCAAAAGGTTAGTATCTCCT	0.302													19	68	---	---	---	---					
KDSR	2531	broad.mit.edu	37	18	61018162	61018163	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr18:61018162_61018163insG	ENST00000406396.3	-	6	958_959	c.567_568insC	c.(565-570)tcagttfs	p.V190fs	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	190					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						ATGGCAAACTTGGATGCAGAGT	0.480													68	142	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085461	11085462	+	RNA	INS	-	-	AAA	rs10446207	by1000genomes	TCGA-FS-A4FC-06A-11D-A24R-08	TCGA-FS-A4FC-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98ec65b1-5471-401b-bc78-c8552becf75b	bb78648c-2843-465f-9057-8b97db7f5a50	g.chr21:11085461_11085462insAAA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccatcaccactaccactaccac	0.535													3	5	---	---	---	---					
