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
SREK1	140890	broad.mit.edu	37	5	65460690	65460690	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:65460690C>T	ENST00000334121.6	+	7	1125	c.966C>T	c.(964-966)tcC>tcT	p.S322S	SREK1_ENST00000380918.3_Silent_p.S206S|SREK1_ENST00000284041.3_3'UTR	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	206	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						GCTCAAAATCCCATTCTAGAA	0.338000													6	105					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560333	44560333	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:44560333C>T	ENST00000332567.4	-	1	1655	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	435					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			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						GACTGGCTTTCCTGGACAGGA	0.577000													24	116					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56216890	56216890	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:56216890G>A	ENST00000435532.3	-	5	435	c.245C>T	c.(244-246)cCt>cTt	p.P82L		NM_006154.2	NP_006145.2	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1180	Ser-rich.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GTGCTGCTGAGGATGAACCTA	0.363000													4	10					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150793950	150793950	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:150793950G>A	ENST00000370357.4	+	8	822	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	193						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)					AGTCAGTGATGAAGCTGTACT	0.318000													35	138					0	0	1	0	0
MANEAL	149175	broad.mit.edu	37	1	38265329	38265329	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:38265329C>T	ENST00000373045.6	+	4	1209	c.828C>T	c.(826-828)tcC>tcT	p.S276S	MANEAL_ENST00000525897.1_Silent_p.S82S|MANEAL_ENST00000397631.3_Intron|MANEAL_ENST00000329006.5_Silent_p.S54S	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	276						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACCTGACGTCCCCTGAGGCCT	0.572000													13	170					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577548	9577548	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9577548G>A	ENST00000301480.4	-	10	2288	c.2075C>T	c.(2074-2076)tCc>tTc	p.S692F		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ATTTCGAAAGGAATTTCCACA	0.378000													25	127					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126015	8126015	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:8126015C>T	ENST00000223145.5	+	8	2048	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	497										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TTGAGCAGCTCTCATCCCGGG	0.567000													21	278					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012010	29012010	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29012010T>A	ENST00000377175.1	-	1	1007	c.943A>T	c.(943-945)Aag>Tag	p.K315*		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CAATTCCTCTTTATTTTTGTA	0.328000													5	17					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76261002	76261002	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:76261002C>T	ENST00000529032.1	+	20	3781	c.3781C>T	c.(3781-3783)Cct>Tct	p.P1261S	C11orf30_ENST00000533248.1_Missense_Mutation_p.P1170S|C11orf30_ENST00000524767.1_Missense_Mutation_p.P1276S|C11orf30_ENST00000525919.1_Missense_Mutation_p.P1262S|C11orf30_ENST00000524490.1_Missense_Mutation_p.P1163S|C11orf30_ENST00000334736.3_Missense_Mutation_p.P1261S|C11orf30_ENST00000525038.1_Missense_Mutation_p.P1262S|C11orf30_ENST00000343878.3_Missense_Mutation_p.P1094S			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1261					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CCAGGCTATTCCTCAGTATGC	0.413000													7	77					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17418547	17418547	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:17418547C>T	ENST00000302539.4	-	33	4163	c.4038G>A	c.(4036-4038)caG>caA	p.Q1346Q	ABCC8_ENST00000389817.3_Silent_p.Q1345Q	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1345	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)	GGTTCTGGATCTGGATCTTCC	0.627000													14	83					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158817640	158817640	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158817640C>T	ENST00000368141.4	+	6	1371	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	370	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TTCGACTCTTCTGCCTTCAAC	0.428000													15	108					0	0	1	0	0
TEAD3	7005	broad.mit.edu	37	6	35447092	35447092	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:35447092G>A	ENST00000338863.7	-	5	559	c.330_splice	c.e5-1	p.A111_splice	TEAD3_ENST00000402886.3_Splice_Site_p.A51_splice	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN	TEA domain family member 3	111					female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CAGGTTCATGGCCTGTGAGGG	0.527000													13	43					0	0	1	0	0
PTGR1	22949	broad.mit.edu	37	9	114332480	114332480	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:114332480G>A	ENST00000407693.2	-	9	1032	c.770C>T	c.(769-771)cCa>cTa	p.P257L	PTGR1_ENST00000238248.3_Missense_Mutation_p.P134L|PTGR1_ENST00000309195.5_Missense_Mutation_p.P257L|ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000538962.1_Missense_Mutation_p.P257L	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	257	Pro-rich.				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						AACAATCTCTGGGGGTGGGCC	0.537000													6	13					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409767	159409767	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:159409767C>T	ENST00000423932.3	+	1	256	c.219C>T	c.(217-219)ttC>ttT	p.F73F	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	73					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGTACTTCTTCCTGAGCATGC	0.458000													5	81					0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52556598	52556598	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:52556598G>A	ENST00000262094.5	+	6	1132	c.611G>A	c.(610-612)gGa>gAa	p.G204E	RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	204					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		GGAAATTCTGGAAACTTGGAT	0.393000													5	47					0	0	1	0	0
FIZ1	84922	broad.mit.edu	37	19	56104195	56104195	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56104195G>A	ENST00000221665.3	-	3	1201	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CTCCAAGGCGGCCAGCGCCGC	0.771000													5	18					0	0	1	0	0
SLC22A18	5002	broad.mit.edu	37	11	2943677	2943677	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:2943677C>T	ENST00000380574.1	+	10	1409	c.978C>T	c.(976-978)tcC>tcT	p.S326S	SLC22A18_ENST00000449793.2_Silent_p.S228S|SLC22A18_ENST00000347936.2_Silent_p.S326S|SLC22A18_ENST00000312221.5_Silent_p.S326S|SLC22A18_ENST00000441077.1_3'UTR			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	326					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTGGATGTCCAGCGTCTTCC	0.662000													4	18					0	0	1	0	0
SLC41A3	54946	broad.mit.edu	37	3	125734348	125734348	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:125734348G>A	ENST00000383598.2	-	7	1166	c.881C>T	c.(880-882)cCc>cTc	p.P294L	SLC41A3_ENST00000315891.6_Missense_Mutation_p.P320L|SLC41A3_ENST00000346785.5_Missense_Mutation_p.P284L|SLC41A3_ENST00000508835.1_Missense_Mutation_p.P203L|SLC41A3_ENST00000360370.4_Missense_Mutation_p.P320L	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	320						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		ACATATGACGGGGGTAAATAT	0.512000													8	93					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107430421	107430421	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:107430421C>T	ENST00000334504.7	-	23	2089	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	COL4A6_ENST00000538570.1_Missense_Mutation_p.G619E|COL4A6_ENST00000545689.1_Missense_Mutation_p.G619E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G620E|COL4A6_ENST00000394872.2_Missense_Mutation_p.G620E	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	620	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAACCCATTTCCTGGGAGGCC	0.557000									Alport syndrome with Diffuse Leiomyomatosis				52	147					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45360902	45360902	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:45360902C>T	ENST00000560629.1	+	3	313	c.313C>T	c.(313-315)Ccg>Tcg	p.P105S	ITGB3_ENST00000571680.1_Silent_p.L116L|ITGB3_ENST00000435993.2_Silent_p.L69L|ITGB3_ENST00000559488.1_Silent_p.L116L			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0					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)	GGATTGCACTCCGGCTCCGGC	0.612000													4	43					0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31089326	31089326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:31089326G>T	ENST00000394979.2	+	1	2104	c.1681G>T	c.(1681-1683)Gag>Tag	p.E561*	ZNF646_ENST00000300850.5_Nonsense_Mutation_p.E561*			O15015	ZN646_HUMAN	zinc finger protein 646	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACATGAAGAAGAGGCCACGGA	0.582000													5	48					3.59834e-05	3.6257e-05	1	1	0
ZNF264	9422	broad.mit.edu	37	19	57723297	57723297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:57723297C>T	ENST00000263095.6	+	4	1246	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	ZNF264_ENST00000536056.1_Nonsense_Mutation_p.Q278*	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TACCCAGCACCAGCGGATTCA	0.517000													6	63					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116068249	116068249	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:116068249C>T	ENST00000369271.3	-	9	1210	c.910G>A	c.(910-912)Gct>Act	p.A304T	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A357T|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.A304T	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	304					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TACTCTGAAGCCGACAGGTAC	0.527000													6	45					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120459207	120459207	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:120459207G>A	ENST00000256646.2	-	34	6357	c.6138C>T	c.(6136-6138)ccC>ccT	p.P2046P		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2046					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACATCCCGGGGAAGACGAT	0.542000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				7	49					0	0	1	0	0
B2M	567	broad.mit.edu	37	15	45007679	45007679	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:45007679C>T	ENST00000558401.1	+	2	196	c.126C>T	c.(124-126)ttC>ttT	p.F42F	B2M_ENST00000559916.1_Silent_p.F42F|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Silent_p.F42F	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	42	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		AGTCAAATTTCCTGAATTGCT	0.403000													20	96					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36293111	36293111	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:36293111G>A	ENST00000301175.3	-	10	1425	c.1408C>T	c.(1408-1410)Cac>Tac	p.H470Y		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	470					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGAGAGACGTGGTCACACATG	0.562000													20	129					0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25747200	25747200	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:25747200G>A	ENST00000294413.7	-	1	136	c.78C>T	c.(76-78)ctC>ctT	p.L26L	RHCE_ENST00000455194.1_Silent_p.L26L|RHCE_ENST00000425135.1_Silent_p.L26L|RHCE_ENST00000349320.3_Intron|RHCE_ENST00000349438.4_Silent_p.L26L|RHCE_ENST00000413854.1_Silent_p.L26L|RHCE_ENST00000346452.4_Silent_p.L26L|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000243186.6_Silent_p.L26L|RHCE_ENST00000340849.4_Silent_p.L26L	NM_020485.4	NP_065231.3	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	26						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AATAGAAGAGGAGAATGAGAG	0.542000													10	107					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127729023	127729023	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:127729023C>T	ENST00000508053.1	-	16	2244	c.1270G>A	c.(1270-1272)Gga>Aga	p.G424R	FBN2_ENST00000508989.1_Missense_Mutation_p.G391R|FBN2_ENST00000262464.4_Missense_Mutation_p.G424R			P35556	FBN2_HUMAN	fibrillin 2	424					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			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)		GGAATTCCTCCCATTGGAAGT	0.502000													4	50					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997210	82997210	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82997210C>T	ENST00000307792.3	-	17	2487	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E614K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	674					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTCTCCTCTTCCACTACCTCC	0.478000													5	47					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380677	78380677	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:78380677C>T	ENST00000278550.7	-	32	7175	c.6713G>A	c.(6712-6714)cGg>cAg	p.R2238Q		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.R2238L(2)									GATGTCATACCGTAGTGGTGT	0.562000													11	137					0	0	1	0	0
LIX1	167410	broad.mit.edu	37	5	96443176	96443176	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:96443176C>A	ENST00000274382.4	-	3	570	c.275G>T	c.(274-276)cGg>cTg	p.R92L	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	92								p.R92L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		AGCTGCATCCCGCCTGGCCTC	0.493000													5	56					0.00116845	0.00117337	1	1	0
ALOX15	246	broad.mit.edu	37	17	4536531	4536531	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:4536531G>A	ENST00000570836.1	-	11	1424	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	ALOX15_ENST00000574640.1_Missense_Mutation_p.P404L|ALOX15_ENST00000545513.1_Missense_Mutation_p.P465L|ALOX15_ENST00000293761.3_Missense_Mutation_p.P443L			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	443	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GTCATCAGGGGGACAGAAGGA	0.582000													7	25					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60904292	60904292	+	Silent	SNP	G	G	A	rs17812939		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:60904292G>A	ENST00000252999.3	-	33	4203	c.4137C>T	c.(4135-4137)gtC>gtT	p.V1379V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1379	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)	CGTTCTCAGGGACCACGAGTA	0.632000													14	44					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255223	15255223	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:15255223G>A	ENST00000378116.4	-	8	2370	c.2364C>T	c.(2362-2364)ctC>ctT	p.L788L		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	788						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCAGGTACACGAGCTGCGTGT	0.607000													10	41					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632968	143632968	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143632968C>T	ENST00000408955.2	+	1	710	c.643C>T	c.(643-645)Ctg>Ttg	p.L215L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CTGCCTGGTTCTGTTGTCCTA	0.522000													8	54					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405491	135405491	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:135405491G>A	ENST00000394143.1	+	5	916	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	GPR112_ENST00000287534.4_Missense_Mutation_p.E146K|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.E209K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	209					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)					AGTTAGTTGGGAAGAAGACGT	0.438000													15	60					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393464	145393464	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:145393464C>T	ENST00000511217.1	+	4	951	c.899C>T	c.(898-900)tCc>tTc	p.S300F	SH3RF2_ENST00000359120.4_Missense_Mutation_p.S300F			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	300							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCAGTTTTCCATCACAACA	0.577000													22	83					0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671667	39671667	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:39671667G>A	ENST00000398930.1	+	4	838	c.484G>A	c.(484-486)Gga>Aga	p.G162R	KCNJ15_ENST00000398934.1_Missense_Mutation_p.G162R|KCNJ15_ENST00000398938.2_Missense_Mutation_p.G162R|KCNJ15_ENST00000398932.1_Missense_Mutation_p.G162R|KCNJ15_ENST00000328656.3_Missense_Mutation_p.G162R			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	162					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	p.G162R(1)		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						CTTCATCACCGGAACCTTCCT	0.512000													4	59					0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48037013	48037013	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:48037013G>A	ENST00000295461.5	+	5	643	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	193						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACAAGAAGAGGAAGTCACATC	0.408000													13	50					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166532958	166532958	+	Missense_Mutation	SNP	G	G	A	rs79015458		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:166532958G>A	ENST00000314499.7	+	6	921	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	CSRNP3_ENST00000342316.4_Missense_Mutation_p.R182Q|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R214Q	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	182					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ACAAAAAAACGAAGAGCTCTG	0.483000													36	193					0	0	1	0	0
TUBG1	7283	broad.mit.edu	37	17	40765958	40765958	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:40765958C>T	ENST00000251413.3	+	8	847	c.785C>T	c.(784-786)cCc>cTc	p.P262L		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	262					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TCGCTCATTCCCACCCCACGG	0.617000													39	143					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83356281	83356281	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:83356281C>T	ENST00000296591.5	-	9	1393	c.975G>A	c.(973-975)atG>atA	p.M325I	EDIL3_ENST00000380138.3_Missense_Mutation_p.M315I|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	325	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTCCTGATTTCATACCCAGAG	0.438000													4	43					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158114663	158114663	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:158114663C>T	ENST00000259056.4	+	1	554	c.69C>T	c.(67-69)gtC>gtT	p.V23V		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	23					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						TAGCTTCTGTCATCTGGCTCC	0.507000													7	106					0	0	1	0	0
PRR25	388199	broad.mit.edu	37	16	863484	863484	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:863484T>A	ENST00000301698.1	+	3	832	c.832T>A	c.(832-834)Tgt>Agt	p.C278S		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	278										large_intestine(1)|lung(1)|skin(1)	3						TCGGCCATCATGTGCGAATGT	0.682000													3	14					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89804019	89804019	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:89804019C>T	ENST00000310775.7	+	4	319	c.233C>T	c.(232-234)tCg>tTg	p.S78L	FANCI_ENST00000300027.8_Missense_Mutation_p.S78L|FANCI_ENST00000567996.1_Missense_Mutation_p.S78L|FANCI_ENST00000451393.2_5'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	78					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTGGTGGAATCGGGGGATTTG	0.428000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				28	129					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38928131	38928131	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:38928131G>A	ENST00000335552.4	-	1	283	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	79	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTCCCAGAGAGGAGGCTGTGC	0.547000													6	89					0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30714787	30714787	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:30714787A>G	ENST00000399921.1	+	5	2087	c.1844A>G	c.(1843-1845)cAg>cGg	p.Q615R	BACH1_ENST00000286800.3_Missense_Mutation_p.Q615R	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	615						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GAGACAAAGCAGAACCTAACT	0.438000													17	60					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840164	150840164	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:150840164G>A	ENST00000370357.4	+	13	1595	c.1350G>A	c.(1348-1350)aaG>aaA	p.K450K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	450						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)					CACATCCCAAGGACGTCAAGT	0.502000													20	71					0	0	1	0	0
MIR520F	574464	broad.mit.edu	37	19	54185475	54185475	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:54185475C>T	ENST00000384824.1	+	0	63					NR_030186.1																						GCAAGTGCTTCCTTTTAGAGG	0.448000													8	44					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128695239	128695239	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:128695239G>A	ENST00000371113.4	+	10	1073	c.908G>A	c.(907-909)aGa>aAa	p.R303K	OCRL_ENST00000357121.5_Missense_Mutation_p.R303K	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	303					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			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GCTGTAGAGAGAGGTTTGCAT	0.398000													11	76					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142564288	142564288	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142564288C>T	ENST00000392957.2	+	10	2299	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	EPHB6_ENST00000442129.1_Silent_p.I504I|EPHB6_ENST00000411471.2_Silent_p.I227I	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	504	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCAACAGCATCACGGTGTCCT	0.592000													8	82					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48267936	48267936	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48267936G>A	ENST00000225964.5	-	34	2483	c.2365C>T	c.(2365-2367)Cct>Tct	p.P789S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	789	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGACCAGCAGGGCCGCTGGGA	0.617000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						7	124					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148761357	148761357	+	Missense_Mutation	SNP	G	G	A	rs148125308	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:148761357G>A	ENST00000367467.3	+	3	798	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	SASH1_ENST00000367469.1_Missense_Mutation_p.R63Q	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	108							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)		CTTCAGCTGCGGTCCCAGATC	0.443000													9	40					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023380	6023380	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6023380G>A	ENST00000330728.4	-	1	1044	c.999C>T	c.(997-999)atC>atT	p.I333I		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGGTGCAGGATGTTGAGCA	0.507000													5	45					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57411519	57411519	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:57411519C>T	ENST00000543257.1	-	8	1490	c.924G>A	c.(922-924)atG>atA	p.M308I	C8B_ENST00000371237.4_Missense_Mutation_p.M360I|C8B_ENST00000535057.1_Missense_Mutation_p.M298I	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	360	MACPF.				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						CCTCTTTGTTCATAACGAGGG	0.473000													17	64					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116307445	116307445	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:116307445G>A	ENST00000533213.2	-	5	885	c.584C>T	c.(583-585)tCc>tTc	p.S195F	ABLIM1_ENST00000277895.5_Missense_Mutation_p.S255F|ABLIM1_ENST00000369252.4_Missense_Mutation_p.S195F			O14639	ABLM1_HUMAN	actin binding LIM protein 1	255	LIM zinc-binding 2.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTTCCCGCAGGACTTGCATTT	0.582000													6	32					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50345692	50345692	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:50345692C>T	ENST00000376020.2	-	7	3908	c.3883G>A	c.(3883-3885)Gag>Aag	p.E1295K	SHROOM4_ENST00000460112.3_Missense_Mutation_p.E1179K|SHROOM4_ENST00000289292.7_Missense_Mutation_p.E1295K	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1295	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCTGCCATCTCAGGTTGGTCT	0.453000													22	54					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703791	4703791	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4703791C>T	ENST00000396950.3	-	2	390	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGCTGCGTTCCGTCCTTACG	0.507000													9	52					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117704252	117704252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:117704252C>T	ENST00000355044.3	+	29	4228	c.4102C>T	c.(4102-4104)Cga>Tga	p.R1368*	ATRNL1_ENST00000303745.7_Nonsense_Mutation_p.R161*|ATRNL1_ENST00000423111.2_Nonsense_Mutation_p.R419*	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1368						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGTCCGGAATCGAAAACACCT	0.413000													14	77					0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4365621	4365621	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:4365621G>A	ENST00000269886.3	-	4	367	c.187_splice	c.e4-1	p.A63_splice	SH3GL1_ENST00000417295.2_Intron|SH3GL1_ENST00000598564.1_Splice_Site_p.A63_splice	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	63	BAR.|Required for dimerization upon membrane association (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TAGCCCGCGAGGCTGGGATAG	0.657000			T	MLL	AL								8	107					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96061529	96061529	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:96061529G>A	ENST00000297954.4	+	25	6212	c.6212G>A	c.(6211-6213)gGa>gAa	p.G2071E	WNK2_ENST00000395477.2_Missense_Mutation_p.G2034E|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.G1683E|WNK2_ENST00000427277.2_Missense_Mutation_p.G1646E			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2071					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GATGGAGGCGGAGCGCGTGGC	0.652000													9	36					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61225615	61225615	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61225615G>A	ENST00000382768.1	+	2	199	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	SERPINB12_ENST00000269491.1_Missense_Mutation_p.E67K			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	67					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTCCCAGAATGAAAGCAAAGA	0.438000													20	81					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34123618	34123618	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34123618C>T	ENST00000373381.4	-	27	4551	c.4375G>A	c.(4375-4377)Gga>Aga	p.G1459R	CSMD2_ENST00000373380.1_Missense_Mutation_p.G332R|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1419	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCTGCACTTCCCTGCAGCGCG	0.592000													9	108					0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241555870	241555870	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:241555870C>T	ENST00000270364.7	+	3	479	c.339C>T	c.(337-339)ttC>ttT	p.F113F	GPR35_ENST00000403859.1_5'UTR|GPR35_ENST00000319838.5_5'UTR|GPR35_ENST00000438013.2_5'UTR			Q9HC96	CAN10_HUMAN	calpain 10	128	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-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;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		ggctggagttcccatgcctgc	0.537000													49	277					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150911368	150911368	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:150911368G>A	ENST00000474524.1	+	14	2098	c.2060G>A	c.(2059-2061)aGg>aAg	p.R687K	MED12L_ENST00000273432.4_Missense_Mutation_p.R547K|MED12L_ENST00000422248.2_Missense_Mutation_p.R687K|MED12L_ENST00000309237.4_Missense_Mutation_p.R722K	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	687					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)			TTGGTGAAGAGGGAAAAGCCA	0.403000													15	74					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60213053	60213053	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:60213053C>T	ENST00000267484.5	-	2	723	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	130					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGGCCATTTTCCTTCTGAAGA	0.478000													10	24					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35861076	35861076	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:35861076C>T	ENST00000303115.3	+	2	334	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000506850.1_Silent_p.L69L|IL7R_ENST00000343305.4_Silent_p.L69L|IL7R_ENST00000511982.1_Silent_p.L69L	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	69					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)			CATCACCAATCTGGAATTTGA	0.418000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						10	87					0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76980020	76980020	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:76980020C>T	ENST00000315938.4	-	8	823	c.573G>A	c.(571-573)aaG>aaA	p.K191K	GDPD4_ENST00000376217.2_Silent_p.K191K	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	191					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CCAAATTCTCCTTCTCCTGAA	0.453000													5	105					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386323	56386323	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:56386323G>A	ENST00000355701.3	-	22	5180	c.4310C>T	c.(4309-4311)cCc>cTc	p.P1437L	BZRAP1_ENST00000268893.6_Missense_Mutation_p.P1377L|BZRAP1_ENST00000343736.4_Missense_Mutation_p.P1437L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1437						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGAGGCCTGGGGCCCATTGTT	0.687000													14	88					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417602	150417602	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150417602G>A	ENST00000307194.5	+	3	650	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAACACAGAGAACCGGGCCT	0.647000													21	82					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48646831	48646831	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:48646831T>C	ENST00000263274.7	-	11	1302	c.883A>G	c.(883-885)Acg>Gcg	p.T295A	LIG1_ENST00000536218.1_Missense_Mutation_p.T227A|LIG1_ENST00000427526.2_Missense_Mutation_p.T264A	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	295					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TTCTCAAACGTCCGGGCCACA	0.597000								Nucleotide excision repair (NER)					13	81					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55452983	55452983	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55452983G>A	ENST00000588756.1	-	4	583	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	NLRP7_ENST00000328092.5_Missense_Mutation_p.P33S|NLRP7_ENST00000446217.1_Missense_Mutation_p.P61S|NLRP7_ENST00000590030.1_Missense_Mutation_p.P33S|NLRP7_ENST00000340844.2_Missense_Mutation_p.P33S|NLRP7_ENST00000592784.1_Missense_Mutation_p.P33S|NLRP7_ENST00000448121.2_Missense_Mutation_p.P33S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	33	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCTTCGAGGGGAAAAGCCCAT	0.493000													4	54					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761353	96761353	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:96761353G>A	ENST00000295266.4	+	1	115	c.52G>A	c.(52-54)Gct>Act	p.A18T		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	18					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCAGAAATCAGCTCGCAGAGT	0.537000													7	30					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099262	168099262	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:168099262C>T	ENST00000409195.1	+	9	1449	c.1360C>T	c.(1360-1362)Cct>Tct	p.P454S	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P454S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P232S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	279					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						AGAATTTCCTCCTCCCCCACC	0.453000													10	59					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9498814	9498814	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:9498814G>A	ENST00000246070.2	+	5	1095	c.603G>A	c.(601-603)atG>atA	p.M201I	LAMP5_ENST00000427562.2_Missense_Mutation_p.M157I	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	201						integral to membrane		p.M201fs*33(1)									CGGTCACCATGATCCTGTCTG	0.498000													6	37					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58587679	58587679	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:58587679C>T	ENST00000348616.4	+	18	2693	c.2393C>T	c.(2392-2394)tCt>tTt	p.S798F	CDH26_ENST00000244047.5_Intron|CDH26_ENST00000350849.6_Missense_Mutation_p.S131F|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_Missense_Mutation_p.S90F	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	257					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TCCCTCAGCTCTCTGGCCAGC	0.532000													28	83					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101510497	101510497	+	Nonsense_Mutation	SNP	C	C	T	rs145182702		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:101510497C>T	ENST00000392979.3	+	24	2747	c.2386C>T	c.(2386-2388)Cga>Tga	p.R796*	ANO4_ENST00000392977.3_Nonsense_Mutation_p.R831*|ANO4_ENST00000550015.1_Nonsense_Mutation_p.R351*|ANO4_ENST00000299222.9_Nonsense_Mutation_p.R351*	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	831						chloride channel complex	chloride channel activity	p.R796*(1)		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						GTCTGTATTTCGAATTTCTGA	0.483000										HNSCC(74;0.22)			17	164					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791484	95791484	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:95791484G>A	ENST00000260766.3	+	2	1315	c.681G>A	c.(679-681)aaG>aaA	p.K227K	PLCE1_ENST00000371380.2_Silent_p.K227K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	227					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGAAGCAAAAGAAAAACTATG	0.388000													5	38					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957724	49957724	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:49957724G>A	ENST00000376056.2	-	5	1763	c.1613C>T	c.(1612-1614)tCt>tTt	p.S538F	AKAP4_ENST00000376064.3_Missense_Mutation_p.S538F|AKAP4_ENST00000358526.2_Missense_Mutation_p.S547F|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	547					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTAAGGGCAGAGACAATCAG	0.473000													16	36					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947151	57947151	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:57947151C>T	ENST00000335397.3	+	3	551	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TATCACTGTCCCCCAGATGCT	0.502000													25	81					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108276555	108276555	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:108276555C>T	ENST00000520734.1	-	7	915	c.630G>A	c.(628-630)ggG>ggA	p.G210G	ANGPT1_ENST00000520052.1_Silent_p.G209G|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	410					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTCCTGCTGTCCCAGTGTGAC	0.398000													6	54					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028656	37028656	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:37028656C>T	ENST00000358047.3	+	1	2225	c.2173C>T	c.(2173-2175)Cat>Tat	p.H725Y		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	725										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCGCGTATCTCATCTCTGCCC	0.642000													17	32					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236733	42236733	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:42236733G>A	ENST00000541110.1	-	5	1164	c.596C>T	c.(595-597)tCc>tTc	p.S199F	TRERF1_ENST00000372917.4_Missense_Mutation_p.S199F|TRERF1_ENST00000372922.4_Missense_Mutation_p.S199F|TRERF1_ENST00000354325.2_Missense_Mutation_p.S199F|TRERF1_ENST00000340840.2_Missense_Mutation_p.S199F			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	199					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGTAGCGGGAAGGGATAGC	0.637000													19	75					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111430413	111430413	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:111430413G>A	ENST00000535254.1	-	3	254	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	BUB1_ENST00000409311.1_Missense_Mutation_p.H83Y|BUB1_ENST00000302759.6_Missense_Mutation_p.H83Y	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	83	BUB1 N-terminal.|Necessary for kinetochore localization.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AAAAATTGATGGAGGTCACTG	0.478000													11	54					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189705399	189705399	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:189705399C>T	ENST00000319332.5	-	5	1212	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	LEPREL1_ENST00000427335.2_Missense_Mutation_p.D158N	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	339					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACATCCTCATCATCTGGATGG	0.473000													5	90					0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35072708	35072708	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:35072708C>T	ENST00000382002.5	-	6	938	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000542609.1_Missense_Mutation_p.R171Q|PRLR_ENST00000348262.3_Missense_Mutation_p.R171Q|PRLR_ENST00000342362.5_Missense_Mutation_p.R70Q|PRLR_ENST00000511486.1_Missense_Mutation_p.R70Q|PRLR_ENST00000310101.5_Missense_Mutation_p.R171Q|PRLR_ENST00000397391.3_Missense_Mutation_p.R100Q|PRLR_ENST00000513753.1_Missense_Mutation_p.R171Q|PRLR_ENST00000231423.3_Missense_Mutation_p.R171Q	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	171	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.R171L(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGGTTTTAATCGAATTTCATA	0.438000													6	98					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45368325	45368325	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:45368325C>T	ENST00000560629.1	+	9	1096	c.1096C>T	c.(1096-1098)Ccg>Tcg	p.P366S	ITGB3_ENST00000571680.1_Silent_p.I377I|ITGB3_ENST00000435993.2_Silent_p.I330I|ITGB3_ENST00000559488.1_Silent_p.I377I			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0	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			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)	CTCAGAAAATCCGTTCTAAAG	0.483000													16	91					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32407761	32407761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:32407761G>A	ENST00000357033.4	-	32	4581	c.4375C>T	c.(4375-4377)Cga>Tga	p.R1459*	DMD_ENST00000378677.2_Nonsense_Mutation_p.R1455*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1459	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R1454*(2)|p.R1455*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGGAATAATCGAAACTTCATG	0.348000													12	32					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94145835	94145835	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:94145835G>A	ENST00000282020.4	+	7	1292	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	GRID2_ENST00000510992.1_Missense_Mutation_p.R250Q	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	345					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTGGAGGACCGAAAGTGGCAC	0.443000													7	34					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1219493	1219493	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:1219493G>A	ENST00000358378.6	+	13	2746		c.e13-1							mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CTCGTGGGCAGGCTGGACAGT	0.667000													8	6					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104922629	104922629	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:104922629G>A	ENST00000262231.10	+	3	1377	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	600					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAGACAAAAGGAAATGATGTA	0.443000										HNSCC(12;0.0054)			10	93					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125143694	125143694	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:125143694C>T	ENST00000362012.2	+	6	546	c.541C>T	c.(541-543)Ctg>Ttg	p.L181L	PTGS1_ENST00000540753.1_Silent_p.L156L|PTGS1_ENST00000223423.4_Silent_p.L181L|PTGS1_ENST00000373698.5_Silent_p.L72L	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	181					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CCGCCGCTTCCTGCTCAGGAG	0.547000													4	27					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833206	43833206	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:43833206C>T	ENST00000319294.6	+	4	459	c.428C>T	c.(427-429)cCc>cTc	p.P143L	UBASH3A_ENST00000398367.1_Missense_Mutation_p.P143L|UBASH3A_ENST00000291535.6_Missense_Mutation_p.P143L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	143						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGCTCCTTCCCCACGGCCGTG	0.607000													26	100					0	0	1	0	0
FGF18	8817	broad.mit.edu	37	5	170876212	170876212	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:170876212G>A	ENST00000274625.5	+	4	856	c.312G>A	c.(310-312)acG>acA	p.T104T		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	104					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAAGGAGACGGAATTCTACC	0.537000													12	56					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753680	49753680	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:49753680G>A	ENST00000304801.3	-	1	1373	c.1221C>T	c.(1219-1221)atC>atT	p.I407I		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	407					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTCCAGGAAGGATTTTACCTT	0.458000													24	66					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169648541	169648541	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:169648541T>C	ENST00000366787.3	-	4	829	c.580A>G	c.(580-582)Aaa>Gaa	p.K194E		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	194	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GCAGAGCCTTTGGCCACGTAC	0.592000													23	144					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3778535	3778535	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:3778535G>A	ENST00000310132.6	-	13	1654	c.1256C>T	c.(1255-1257)tCa>tTa	p.S419L	MATK_ENST00000395040.2_Missense_Mutation_p.S378L|MATK_ENST00000395045.2_Missense_Mutation_p.S420L|MATK_ENST00000585778.1_Missense_Mutation_p.S418L	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	419	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTCCATATGAGAAGACCTC	0.642000													4	18					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350858	101350858	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:101350858C>T	ENST00000534062.1	-	1	326	c.268G>A	c.(268-270)Gat>Aat	p.D90N	MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	90										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TTGGGTGGATCCTCTATTTCC	0.557000													10	62					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546932	37546932	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:37546932G>A	ENST00000299824.1	+	11	1516	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.D401N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	443					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GGCCAACGGGGATGTCTGGAA	0.607000													10	205					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93955046	93955046	+	Missense_Mutation	SNP	G	G	A	rs141581954		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:93955046G>A	ENST00000369303.4	-	16	3036	c.2852C>T	c.(2851-2853)tCc>tTc	p.S951F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	951	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S951F(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGATTCAAGGGAATTGTAGCC	0.338000													4	35					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158582688	158582688	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158582688G>A	ENST00000368148.3	-	51	7233	c.7053C>T	c.(7051-7053)atC>atT	p.I2351I	SPTA1_ENST00000368147.3_Silent_p.I2348I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2351					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACTGGACTTGATGTTTTCTG	0.468000													10	47					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16202912	16202912	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16202912A>G	ENST00000375759.3	+	3	824	c.620A>G	c.(619-621)gAg>gGg	p.E207G	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	207	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGGGCTCGCGAGCAGTTTACA	0.532000													16	68					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884450	23884450	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:23884450C>T	ENST00000355349.3	-	37	5475	c.5313G>A	c.(5311-5313)aaG>aaA	p.K1771K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1771					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGTCCTGCTCCTTCTTCAGCT	0.607000													9	121					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38939420	38939420	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:38939420C>T	ENST00000355481.4	+	11	1220	c.1089C>T	c.(1087-1089)ccC>ccT	p.P363P	RYR1_ENST00000359596.3_Silent_p.P363P|RYR1_ENST00000360985.3_Silent_p.P363P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	363	MIR 5.				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)	CTCCAGACCCCAAGGCCCTGC	0.612000													9	39					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975306	118975306	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:118975306C>T	ENST00000296499.5	+	2	644	c.241C>T	c.(241-243)Cta>Tta	p.L81L	NDST3_ENST00000433996.2_Silent_p.L81L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	81	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCCCACAGTCCTAGTATTTGT	0.418000													6	71					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115222318	115222318	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:115222318G>A	ENST00000369538.3	-	6	913	c.866C>T	c.(865-867)aCc>aTc	p.T289I	AMPD1_ENST00000520113.2_Missense_Mutation_p.T293I|AMPD1_ENST00000353928.6_Missense_Mutation_p.T260I	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	260					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	GCGCCGGTGGGTATAGGTCTT	0.413000													19	104					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102340891	102340891	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:102340891A>G	ENST00000438793.3	+	17	2234	c.1764A>G	c.(1762-1764)aaA>aaG	p.K588K	PAM_ENST00000346918.2_Silent_p.K588K|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Silent_p.K588K|PAM_ENST00000348126.2_Silent_p.K481K|PAM_ENST00000455264.2_Silent_p.K588K|PAM_ENST00000274392.9_Silent_p.K491K	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	588	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)	GTATAGATAAAGATGGGAATT	0.348000													6	30					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94032909	94032909	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94032909G>A	ENST00000370244.1	-	13	2514	c.2226C>T	c.(2224-2226)aaC>aaT	p.N742N	BCAR3_ENST00000539242.1_Silent_p.N418N|BCAR3_ENST00000260502.6_Silent_p.N742N|BCAR3_ENST00000370243.1_Silent_p.N742N|BCAR3_ENST00000370247.3_Silent_p.N651N	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	742	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TTGCCAAATGGTTCAGCATGA	0.512000													4	60					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22186564	22186564	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:22186564G>A	ENST00000344041.6	-	19	1811	c.1499C>T	c.(1498-1500)gCt>gTt	p.A500V	RAPGEF5_ENST00000401957.2_Missense_Mutation_p.A350V	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	350	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TAATTCCAGAGCAAGATCCCA	0.358000													16	82					0	0	1	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332679	71332679	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:71332679G>A	ENST00000242462.4	-	2	150	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	41					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CCCCGTGTGCGAGTGGGGCTG	0.721000													3	30					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117727237	117727237	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:117727237C>T	ENST00000276204.6	+	20	2274	c.2200C>T	c.(2200-2202)Cat>Tat	p.H734Y	DOCK11_ENST00000276202.7_Missense_Mutation_p.H734Y			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	734	DHR-1.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CACTTTTTATCATGTAAGTTG	0.333000													8	44					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323097	61323097	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61323097G>A	ENST00000283752.5	-	8	1110	c.967C>T	c.(967-969)Ctc>Ttc	p.L323F	SERPINB3_ENST00000332821.8_Missense_Mutation_p.L271F|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	323					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GATAGCACGAGACCGCGGCTC	0.552000													17	87					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131471824	131471824	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:131471824C>T	ENST00000261654.5	+	6	1234	c.675C>T	c.(673-675)ttC>ttT	p.F225F	GPR133_ENST00000535015.1_Silent_p.F257F	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	225					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACGGTGCTTTCGATGAGTTCA	0.537000													5	86					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011256	105011256	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:105011256G>A	ENST00000372582.1	+	11	2419	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E555K|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.E160K	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	555	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTAGTATATGAAATGCCCAT	0.423000													31	91					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135145026	135145026	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:135145026G>A	ENST00000372169.2	-	25	7445	c.7263C>T	c.(7261-7263)atC>atT	p.I2421I	SETX_ENST00000393220.1_Silent_p.I2388I|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000224140.5_Silent_p.I2421I			Q7Z333	SETX_HUMAN	senataxin	2421					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATGTCCGAGGATGAAGAGGC	0.413000													62	260					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40319107	40319107	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:40319107G>A	ENST00000593685.1	-	6	1105	c.637C>T	c.(637-639)Ctg>Ttg	p.L213L	DYRK1B_ENST00000430012.2_Silent_p.L213L|DYRK1B_ENST00000348817.3_Silent_p.L213L|DYRK1B_ENST00000597639.1_Silent_p.L213L|DYRK1B_ENST00000323039.5_Silent_p.L213L			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	213	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TTCCGGGTCAGGTTCAGCGAG	0.587000													3	28					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394581	164394581	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:164394581C>T	ENST00000280605.3	-	1	466	c.306G>A	c.(304-306)agG>agA	p.R102R		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	102						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTGAAGTTTCCTCAGGTTCA	0.547000													4	28					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304184	115304184	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:115304184C>T	ENST00000371906.4	+	3	841	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	217					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TGAAAAATATCCTTGGTTTTA	0.373000													13	40					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28669455	28669455	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:28669455C>T	ENST00000280904.6	-	5	1020	c.577G>A	c.(577-579)Gga>Aga	p.G193R	DSC2_ENST00000251081.6_Missense_Mutation_p.G193R	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	193	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TACAAGTTTCCAGTGTCTCTC	0.398000													5	40					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155215138	155215138	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:155215138G>A	ENST00000460012.1	-	15	2132	c.1775C>T	c.(1774-1776)tCc>tTc	p.S592F	PLCH1_ENST00000414191.1_Missense_Mutation_p.S592F|PLCH1_ENST00000334686.6_Missense_Mutation_p.S592F|PLCH1_ENST00000494598.1_Missense_Mutation_p.S610F|PLCH1_ENST00000340059.7_Missense_Mutation_p.S610F|PLCH1_ENST00000447496.2_Missense_Mutation_p.S610F			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	610					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCGGCCACGGAGTTTGTGTA	0.443000													13	126					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29255914	29255914	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:29255914G>A	ENST00000379558.4	+	15	2478	c.2127G>A	c.(2125-2127)caG>caA	p.Q709Q	FAM179A_ENST00000403861.2_Silent_p.Q654Q|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	709							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCATTAAACAGCAGGTGAGCT	0.527000													5	14					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495673	71495673	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:71495673C>T	ENST00000296755.7	+	5	6789	c.6491C>T	c.(6490-6492)cCg>cTg	p.P2164L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2164						microtubule|microtubule associated complex	structural molecule activity	p.P2164Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GATGTTCCCCCGGAGACTGAA	0.577000													5	71					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483077	32483077	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:32483077G>A	ENST00000359872.6	-	1	1236	c.475C>T	c.(475-477)Cgt>Tgt	p.R159C		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	159					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TGGCCCACACGGTGCAGGAAC	0.567000													9	102					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87487698	87487698	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:87487698C>T	ENST00000327946.7	-	10	1532	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	GRID1_ENST00000536331.1_Missense_Mutation_p.E54K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	483						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)	TGGTAAATCTCATATTTAAAG	0.542000										Multiple Myeloma(13;0.14)			12	133					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644302	20644302	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:20644302C>T	ENST00000428453.1	-	0	3261																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCACCACCTCCTCCGCCAGT	0.627000													4	59					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284313	33284313	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:33284313G>A	ENST00000431845.2	-	2	532	c.381C>T	c.(379-381)ttC>ttT	p.F127F	ZBTB22_ENST00000418724.1_Silent_p.F127F	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCACTGTAAGGAAGTTGACAA	0.572000													22	144					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131825559	131825559	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:131825559C>T	ENST00000359827.3	-	30	6199	c.5237G>A	c.(5236-5238)aGg>aAg	p.R1746K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1746K			Q9HCM2	PLXA4_HUMAN	plexin A4	1746						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACCCAAAACCTCAGGGGCAG	0.557000													6	89					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48805805	48805805	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:48805805G>A	ENST00000316623.5	-	13	1984	c.1529C>T	c.(1528-1530)tCg>tTg	p.S510L		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	510	EGF-like 7; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGGTGTACGAACCCTGGTT	0.473000													8	49					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436788	72436788	+	Silent	SNP	C	C	T	rs145203828		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:72436788C>T	ENST00000392627.1	+	2	2134	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Silent_p.F303F|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	291						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CCTGGGCCTTCGTCCTCTTCT	0.617000													12	44					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106236023	106236023	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:106236023G>A	ENST00000390551.2	-	0	780																											TTTCTCGATGGGGGCTGGGAG	0.607000													66	148					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228505767	228505767	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:228505767G>A	ENST00000570156.2	+	64	16969	c.16895G>A	c.(16894-16896)gGt>gAt	p.G5632D	OBSCN_ENST00000366707.4_Missense_Mutation_p.G2309D|OBSCN_ENST00000422127.1_Missense_Mutation_p.G4675D|OBSCN_ENST00000284548.11_Missense_Mutation_p.G4675D|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1794D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4675	SH3.				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)				GTCTCCCAGGGTCGGCAACAG	0.642000													5	134					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74690363	74690363	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:74690363C>T	ENST00000334011.5	+	8	1653	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	479	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CTTCCAGGTCCCTGTCTTCAA	0.433000													13	173					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59170316	59170316	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:59170316C>T	ENST00000262717.4	+	5	1190	c.792C>T	c.(790-792)ctC>ctT	p.L264L	CDH20_ENST00000538374.1_Silent_p.L264L|CDH20_ENST00000536675.2_Silent_p.L264L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	264	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACATCACCCTCTCAGATGTCA	0.537000											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	140					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92143197	92143197	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:92143197G>A	ENST00000248633.4	-	6	1419	c.1324C>T	c.(1324-1326)Cca>Tca	p.P442S	PEX1_ENST00000438045.1_Missense_Mutation_p.P120S|PEX1_ENST00000428214.1_Missense_Mutation_p.P442S|PEX1_ENST00000541751.1_5'UTR	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	442					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGAGATCTTGGAATTTTAGGG	0.323000													8	96					0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97328321	97328321	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:97328321C>T	ENST00000558553.1	+	3	319	c.170C>T	c.(169-171)cCt>cTt	p.P57L	SPATA8_ENST00000328504.3_Silent_p.L98L			Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	0										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GAGAAGTGTCCTGTTTCACCC	0.483000													20	95					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121973135	121973135	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121973135C>T	ENST00000498619.1	+	2	537	c.99C>T	c.(97-99)atC>atT	p.I33I	CASR_ENST00000296154.5_Silent_p.I33I|CASR_ENST00000490131.1_Silent_p.I33I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	33					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.I33I(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGGACATTATCCTTGGGGGGC	0.522000													10	116					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114082606	114082606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:114082606G>A	ENST00000276198.1	+	5	1118	c.390G>A	c.(388-390)tgG>tgA	p.W130*	HTR2C_ENST00000371951.1_Nonsense_Mutation_p.W130*|HTR2C_ENST00000371950.3_Nonsense_Mutation_p.W130*	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	130					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)	GCCCCGTCTGGATTTCTTTAG	0.423000													22	78					0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137226257	137226257	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:137226257T>G	ENST00000508638.1	+	2	174	c.119T>G	c.(118-120)aTa>aGa	p.I40R	PKD2L2_ENST00000350250.4_Intron|PKD2L2_ENST00000508883.1_Missense_Mutation_p.I40R|PKD2L2_ENST00000290431.5_Missense_Mutation_p.I40R|PKD2L2_ENST00000502810.1_Missense_Mutation_p.I40R	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	40						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATTTTTTTAATAAACCTATGT	0.289000													7	36					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19197881	19197881	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:19197881G>A	ENST00000263200.10	-	20	3276	c.3204C>T	c.(3202-3204)gcC>gcT	p.A1068A	CLTCL1_ENST00000353891.5_Silent_p.A1068A|CLTCL1_ENST00000427926.1_Silent_p.A1068A	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1068	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AAACGGTGAAGGCCTCCTCAT	0.547000			T	?	ALCL								5	59					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842521	123842521	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:123842521C>T	ENST00000369005.1	+	4	846	c.506C>T	c.(505-507)gCc>gTc	p.A169V	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A169V|TACC2_ENST00000334433.3_Missense_Mutation_p.A169V|TACC2_ENST00000515273.1_Missense_Mutation_p.A169V|TACC2_ENST00000515603.1_Missense_Mutation_p.A169V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	169						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)				GAGATTGCTGCCGTCCCCAGT	0.587000													4	26					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15752394	15752394	+	Missense_Mutation	SNP	C	C	T	rs138587161		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15752394C>T	ENST00000221307.7	+	2	217	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	CYP4F3_ENST00000591058.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000586182.1_Missense_Mutation_p.R57W	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	57					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ACCCCCGAAACGGAATTGGTT	0.622000													17	75					0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	114990732	114990732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:114990732G>A	ENST00000334318.6	-	12	1354	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	PTBP3_ENST00000374255.2_Nonsense_Mutation_p.R387*|PTBP3_ENST00000343327.2_Nonsense_Mutation_p.R292*|PTBP3_ENST00000374257.1_Nonsense_Mutation_p.R359*|PTBP3_ENST00000458258.1_Nonsense_Mutation_p.R393*	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	387	RRM 3.				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										ATCTTCACTCGATGTACATCA	0.289000													4	23					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109459111	109459111	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:109459111C>T	ENST00000356711.2	+	7	886	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	MYO16_ENST00000251041.5_Nonsense_Mutation_p.Q254*|MYO16_ENST00000357550.2_Nonsense_Mutation_p.Q254*	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	254					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGTAGATGATCAGTACTGGAC	0.418000													4	38					0	0	1	0	0
COX6B2	125965	broad.mit.edu	37	19	55865857	55865857	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55865857C>T	ENST00000593184.1	-	2	112	c.33G>A	c.(31-33)aaG>aaA	p.K11K	COX6B2_ENST00000590900.1_Silent_p.K11K|COX6B2_ENST00000588572.1_Silent_p.K11K|COX6B2_ENST00000326529.4_Silent_p.K11K|CTD-2105E13.6_ENST00000591954.3_3'UTR			Q6YFQ2	CX6B2_HUMAN	cytochrome c oxidase subunit VIb polypeptide 2 (testis)	11						mitochondrial crista|mitochondrial intermembrane space	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|lung(2)|pancreas(1)	5	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ACCATTTCCCCTTGGGGGGCT	0.662000													20	217					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175086300	175086300	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:175086300G>A	ENST00000239462.4	+	10	2458	c.2345G>A	c.(2344-2346)gGg>gAg	p.G782E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	782	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCCAGAAGGGGGCCCAGGAG	0.577000													8	89					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76752138	76752138	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:76752138G>A	ENST00000575389.2	+	2	147	c.147G>A	c.(145-147)gaG>gaA	p.E49E	SALL3_ENST00000572928.1_3'UTR|SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000537592.2_Silent_p.E49E			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGGGCGAGGAGACCAGCGTGT	0.692000													5	17					0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103340154	103340154	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:103340154G>A	ENST00000370162.3	-	8	1708	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V	POLL_ENST00000370169.1_Missense_Mutation_p.A405V|POLL_ENST00000370158.3_Missense_Mutation_p.A130V|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370168.3_Missense_Mutation_p.A78V|POLL_ENST00000456836.2_Missense_Mutation_p.A142V|DPCD_ENST00000470165.1_Intron|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000370172.1_Missense_Mutation_p.A317V|POLL_ENST00000339310.3_Missense_Mutation_p.A128V|POLL_ENST00000299206.4_Missense_Mutation_p.A405V	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	405					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGAGTTAAAGGCCTGGGCTGC	0.607000								DNA polymerases (catalytic subunits)					13	53					0	0	1	0	0
FADS2	9415	broad.mit.edu	37	11	61624528	61624528	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:61624528G>A	ENST00000278840.4	+	6	1420	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	FADS2_ENST00000521849.1_Missense_Mutation_p.E264K|FADS2_ENST00000257261.6_Missense_Mutation_p.E242K|FADS2_ENST00000522056.1_Missense_Mutation_p.E233K	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	264					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TCACCAGCACGAATACTTCTT	0.567000													13	76					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031158	32031158	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:32031158C>T	ENST00000360311.4	+	2	1136	c.587C>T	c.(586-588)tCt>tTt	p.S196F		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						CAAAGAATTTCTTCTAGGCCC	0.348000													7	54					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244544	56244544	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56244544G>A	ENST00000332836.2	-	2	680	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	218	NACHT.					cytoplasm	ATP binding	p.S218F(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTCTGGCTGGGAAAAAATGTC	0.478000													4	23					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234055	8234055	+	Silent	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:8234055T>G	ENST00000520004.1	-	3	2128	c.1864A>C	c.(1864-1866)Agg>Cgg	p.R622R	SGK223_ENST00000330777.4_Silent_p.R622R			Q86YV5	SG223_HUMAN		622							ATP binding|non-membrane spanning protein tyrosine kinase activity										CTGGGCCGCCTCTGTTCCGAG	0.632000													4	58					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193160188	193160188	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:193160188C>T	ENST00000342695.4	-	19	2632	c.2310G>A	c.(2308-2310)ggG>ggA	p.G770G	ATP13A4_ENST00000392443.3_Silent_p.G751G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	770					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)		GTACCTGATTCCCATACATAA	0.438000													8	37					0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117692467	117692467	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:117692467G>A	ENST00000223795.2	-	1	230	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	39					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TGGTCAAATAGAAATAGCTGC	0.592000													35	77					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69639974	69639974	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:69639974C>T	ENST00000374403.3	+	31	3640	c.3558C>T	c.(3556-3558)tcC>tcT	p.S1186S		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1186	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CAGCTCCCTCCCCTTTTGACC	0.493000													3	37					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412108	51412108	+	Missense_Mutation	SNP	C	C	T	rs148710182		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:51412108C>T	ENST00000319760.6	-	1	340	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M96I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ATAGCTGGCCCATGCAACCTT	0.448000													6	61					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42490034	42490034	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42490034G>A	ENST00000545399.1	-	6	780	c.627C>T	c.(625-627)atC>atT	p.I209I	ATP1A3_ENST00000602133.1_Silent_p.I166I|ATP1A3_ENST00000543770.1_Silent_p.I207I|ATP1A3_ENST00000302102.5_Silent_p.I196I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	196					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CGTGGGCTGAGATGATCCGCA	0.662000													12	113					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731372	92731372	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:92731372G>A	ENST00000379958.2	-	3	4308	c.4039C>T	c.(4039-4041)Ctc>Ttc	p.L1347F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1347						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TATTCCAAGAGCCCAGAAAAC	0.368000													30	59					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39341729	39341729	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:39341729C>T	ENST00000263408.4	-	3	352	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	86	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CACACACTGTCGTCTGTCTCC	0.453000													17	48					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35425659	35425659	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:35425659G>A	ENST00000287272.2	+	3	386	c.366G>A	c.(364-366)caG>caA	p.Q122Q	UNC5D_ENST00000404895.2_Silent_p.Q122Q|UNC5D_ENST00000453357.2_Silent_p.Q117Q|UNC5D_ENST00000420357.1_Silent_p.Q122Q|UNC5D_ENST00000416672.1_Silent_p.Q122Q			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	122	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTAGGCAACAGGTGGAGGACT	0.527000													19	150					0	0	1	0	0
UTP15	84135	broad.mit.edu	37	5	72866468	72866468	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:72866468C>T	ENST00000296792.4	+	6	860	c.605C>T	c.(604-606)tCc>tTc	p.S202F	UTP15_ENST00000508491.1_Missense_Mutation_p.S183F|UTP15_ENST00000543251.1_Missense_Mutation_p.S12F	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	202					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AGTGTTCTCTCCGTTGAGCAT	0.403000													6	72					0	0	1	0	0
SMIM21	284274	broad.mit.edu	37	18	73130745	73130745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:73130745G>A	ENST00000584508.1	-	2	374	c.256C>T	c.(256-258)Cga>Tga	p.R86*	SMIM21_ENST00000579022.1_Nonsense_Mutation_p.R86*|SMIM21_ENST00000382638.3_Intron|RP11-321M21.3_ENST00000579386.1_Intron|RP11-321M21.3_ENST00000578340.1_Intron					small integral membrane protein 21																		acctactttcgaaatatgctg	0.353000													12	75					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284686	130284686	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:130284686G>A	ENST00000257359.6	-	5	2012	c.1306C>T	c.(1306-1308)Ccc>Tcc	p.P436S		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	436				YLTELLDGGHGDCLLDAPAAALPLPTGL -> FSGCHLQGW IHFKYLCKCVSELKCDLMP (in Ref. 3; AAF25806).	negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AGGCCTGTGGGGAGGGGCAGG	0.652000													16	35					0	0	1	0	0
NPIPB15	440348	broad.mit.edu	37	16	74419267	74419267	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:74419267T>A	ENST00000429990.1	+	3	373	c.277T>A	c.(277-279)Tct>Act	p.S93T						nuclear pore complex interacting protein family, member B15																		TATCTTCTGGTCTCGAAATGG	0.478000													5	107					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027958	92027958	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:92027958C>T	ENST00000265742.3	+	20	3341	c.2965C>T	c.(2965-2967)Cct>Tct	p.P989S		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	989							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGCCCTGATTCCTCCAGCAAC	0.498000													5	86					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961413	34961413	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:34961413C>T	ENST00000329357.5	+	1	501	c.465C>T	c.(463-465)ccC>ccT	p.P155P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	155										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						AGCTGGATCCCGAGAGGAAGC	0.562000													8	16					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76470846	76470846	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:76470846A>G	ENST00000396423.2	+	7	921	c.797A>G	c.(796-798)gAa>gGa	p.E266G	HNF4G_ENST00000354370.1_Missense_Mutation_p.E229G	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	229					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CCATTTCAAGAAATCCAGATT	0.358000													14	176					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265493	10265493	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10265493C>T	ENST00000418404.3	-	4	610	c.447G>A	c.(445-447)caG>caA	p.Q149Q	MYH13_ENST00000570743.1_Silent_p.Q149Q|MYH13_ENST00000252172.4_Silent_p.Q149Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	149	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						GCGGGGCCTCCTGGCGCTTTT	0.517000													25	120					0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118891747	118891747	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:118891747G>A	ENST00000277905.2	-	4	778	c.534C>T	c.(532-534)tcC>tcT	p.S178S		NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	0						nucleus	sequence-specific DNA binding	p.S178S(1)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CTCTGCCCCCGGAGTCCCCAC	0.517000													7	51					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14716842	14716842	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:14716842G>A	ENST00000284268.6	-	9	1444	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W	ANKH_ENST00000535119.1_Missense_Mutation_p.R174W	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	372					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GAGAAGATCCGCAAAGGAACA	0.408000													3	37					0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81372946	81372946	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:81372946G>A	ENST00000398636.3	+	5	432	c.292_splice	c.e5-1	p.G98_splice	SFTPA1_ENST00000428376.2_Splice_Site_p.G98_splice|SFTPA1_ENST00000372308.3_Splice_Site_p.G98_splice|SFTPA1_ENST00000372313.5_Splice_Site_p.G39_splice|SFTPA1_ENST00000419470.2_Splice_Site_p.G113_splice	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	98	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TCTCCACAGGGCTTCCAGCTC	0.582000													8	109					0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47736562	47736562	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:47736562G>T	ENST00000371828.3	-	9	1332	c.845C>A	c.(844-846)cCg>cAg	p.P282Q	STAU1_ENST00000371792.1_Missense_Mutation_p.P274Q|STAU1_ENST00000360426.4_Missense_Mutation_p.P276Q|STAU1_ENST00000371802.1_Missense_Mutation_p.P282Q|STAU1_ENST00000347458.5_Missense_Mutation_p.P276Q|STAU1_ENST00000371856.2_Missense_Mutation_p.P357Q|STAU1_ENST00000340954.7_Missense_Mutation_p.P276Q	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	357						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CTGCGCCTGCGGGACTTTGAA	0.562000													4	37					0.00909568	0.00912245	1	1	0
SHC3	53358	broad.mit.edu	37	9	91661873	91661873	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:91661873C>T	ENST00000375835.4	-	8	1305	c.999G>A	c.(997-999)gaG>gaA	p.E333E	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	333	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGCCATCTCCCTCCTCTTCCG	0.488000													9	80					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352229	168352229	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:168352229C>T	ENST00000366806.2	+	30	4316	c.4174C>T	c.(4174-4176)Cct>Tct	p.P1392S	MLLT4_ENST00000351017.4_Missense_Mutation_p.P1399S|MLLT4_ENST00000447894.2_Missense_Mutation_p.P1392S|MLLT4_ENST00000400822.3_Missense_Mutation_p.P1391S|MLLT4_ENST00000392108.3_Missense_Mutation_p.P1392S|MLLT4_ENST00000392112.1_Missense_Mutation_p.P1375S|MLLT4_ENST00000344191.4_Missense_Mutation_p.P1392S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1392	Pro-rich.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCCACCACCCCCTTCCGCCAA	0.597000			T	MLL	AL								17	169					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60813721	60813721	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:60813721C>T	ENST00000544856.2	-	7	1883	c.1505G>A	c.(1504-1506)gGa>gAa	p.G502E	MARCH10_ENST00000456609.2_Missense_Mutation_p.G503E|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.G503E|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.G541E|RP11-156L14.1_ENST00000579201.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	503							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CCCTGAGTTTCCCTCTGAGTC	0.433000													7	79					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455231	84455231	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:84455231C>T	ENST00000377084.2	-	1	1297	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	138						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAATTAAAATCAGCCTGGAGA	0.463000													27	66					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73039766	73039766	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:73039766G>A	ENST00000335350.6	+	2	684	c.268G>A	c.(268-270)Gac>Aac	p.D90N	UNC5B_ENST00000373192.4_Missense_Mutation_p.D90N	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	90	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CAGCCAGAACGACCACGTCAC	0.647000													7	79					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2150297	2150297	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:2150297G>A	ENST00000262304.4	-	28	9790	c.9582C>T	c.(9580-9582)gcC>gcT	p.A3194A	PKD1_ENST00000423118.1_Silent_p.A3194A	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3194	PLAT.				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						GCAGGAACCAGGCAGGGCTGA	0.677000													8	130					0	0	1	0	0
KCTD14	65987	broad.mit.edu	37	11	77728098	77728098	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:77728098G>A	ENST00000353172.5	-	2	353	c.309C>T	c.(307-309)atC>atT	p.I103I	KCTD14_ENST00000533144.1_Silent_p.I73I|NDUFC2-KCTD14_ENST00000528251.1_3'UTR|NDUFC2-KCTD14_ENST00000530054.1_3'UTR	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	103	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			ACACTTCAGGGATGTGCTGTG	0.582000													6	36					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96706854	96706854	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:96706854C>T	ENST00000542454.2	+	3	3196	c.108C>T	c.(106-108)ttC>ttT	p.F36F	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.F36F|BDKRB2_ENST00000306005.3_Silent_p.F63F|BDKRB2_ENST00000554311.1_Silent_p.F63F			P30411	BKRB2_HUMAN	bradykinin receptor B2	63					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		AGCCCCCCTTCCTCTGGGTGC	0.592000													12	131					0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12639390	12639390	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:12639390C>T	ENST00000376223.2	-	3	773	c.390G>A	c.(388-390)aaG>aaA	p.K130K		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	130					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CCATTAGGCTCTTCCCATGGA	0.632000													14	61					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71216688	71216688	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:71216688G>A	ENST00000554752.2	-	4	1111	c.1112C>T	c.(1111-1113)cCt>cTt	p.P371L	MAP3K9_ENST00000554146.1_Missense_Mutation_p.P108L|MAP3K9_ENST00000381250.4_Missense_Mutation_p.P371L|MAP3K9_ENST00000555993.2_Missense_Mutation_p.P371L|MAP3K9_ENST00000553414.1_Missense_Mutation_p.P65L			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	371	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCACGTAGAAGGAATAGGAAG	0.507000													12	56					0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74320213	74320213	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:74320213G>A	ENST00000355773.5	-	9	1437	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F	SLC17A5_ENST00000393019.3_Intron	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	390					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AACGGCCAAAGAATAATCACA	0.418000													21	118					0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834966	61834966	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:61834966C>T	ENST00000370339.3	-	4	667	c.326G>A	c.(325-327)gGg>gAg	p.G109E	YTHDF1_ENST00000370333.4_Missense_Mutation_p.G59E|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	109										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CCCCAGGCCCCCAGGCTGCCC	0.532000													15	79					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152358	133152358	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:133152358C>T	ENST00000388996.4	-	11	1953	c.1533G>A	c.(1531-1533)atG>atA	p.M511I	KCNQ3_ENST00000519445.1_Missense_Mutation_p.M511I|KCNQ3_ENST00000521134.1_Missense_Mutation_p.M391I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	511					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGGTGGGGATCATGTCTTCGA	0.632000													8	44					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745632	33745632	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:33745632G>A	ENST00000403687.3	+	6	989	c.249G>A	c.(247-249)ctG>ctA	p.L83L	RASGRP3_ENST00000402538.3_Silent_p.L83L|RASGRP3_ENST00000407811.1_Silent_p.L83L	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	83	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ACTGGATTCTGAAGTTTCCTG	0.388000													40	187					0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55080521	55080521	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:55080521C>T	ENST00000302250.2	-	4	587	c.427G>A	c.(427-429)Gac>Aac	p.D143N	FAM151A_ENST00000371304.2_Missense_Mutation_p.D143N|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	143						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TTCTTGAAGTCCAGTTTGATG	0.567000													8	39					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45811262	45811262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:45811262G>A	ENST00000397928.1	+	11	1993	c.1548G>A	c.(1546-1548)tgG>tgA	p.W516*	TRPM2_ENST00000397932.2_Nonsense_Mutation_p.W516*|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.W516*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.W516*|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	516						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TTGTCACCTGGGACACCTTGC	0.587000													16	102					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18852748	18852748	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:18852748C>T	ENST00000266505.7	-	10	1417	c.1154G>A	c.(1153-1155)cGa>cAa	p.R385Q	PLCZ1_ENST00000435379.1_Missense_Mutation_p.R190Q|PLCZ1_ENST00000539875.1_Missense_Mutation_p.R192Q|PLCZ1_ENST00000538330.1_Missense_Mutation_p.R167Q|PLCZ1_ENST00000541695.1_Missense_Mutation_p.R248Q|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000447925.2_Missense_Mutation_p.R383Q			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	385	PI-PLC Y-box.				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)					TGAAAGTTTTCGGGCTTGTGT	0.313000													5	35					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161123349	161123349	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:161123349G>A	ENST00000308192.9	+	1	76	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Missense_Mutation_p.E5K	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	5					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGAACATAAGGAAGTGGTTCT	0.368000													9	79					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30066847	30066847	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:30066847G>A	ENST00000331968.5	-	16	2513	c.2284C>T	c.(2284-2286)Cgc>Tgc	p.R762C	PRKD1_ENST00000415220.2_Missense_Mutation_p.R770C	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	762	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCTAGAGAGCGATTGTAGCCC	0.493000													16	82					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93605266	93605266	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:93605266G>A	ENST00000394236.3	-	11	1553	c.1237C>T	c.(1237-1239)Ctt>Ttt	p.L413F	PROS1_ENST00000407433.1_Missense_Mutation_p.L282F	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	413	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.L413I(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GGCTTAAAAAGGGGTCCAGGT	0.363000													33	141					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347148	57347148	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:57347148G>A	ENST00000361249.3	+	5	591	c.495G>A	c.(493-495)caG>caA	p.Q165Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	165	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AAGATGCTCAGAGTGTGTACG	0.478000													20	131					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33559750	33559750	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:33559750C>T	ENST00000265371.4	-	4	808	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	NRP1_ENST00000374867.2_Missense_Mutation_p.E95K|NRP1_ENST00000395995.1_Missense_Mutation_p.E95K|NRP1_ENST00000374823.5_Missense_Mutation_p.E95K|NRP1_ENST00000374816.3_Missense_Mutation_p.E95K|NRP1_ENST00000374821.5_Missense_Mutation_p.E95K|NRP1_ENST00000374822.4_Missense_Mutation_p.E95K			O14786	NRP1_HUMAN	neuropilin 1	95	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGTCCATTTTCATTTTCTCCA	0.373000													14	40					0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663814	169663814	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:169663814C>T	ENST00000483289.2	-	0	3480				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						CCAGGATTGTCCTTCATAGGC	0.498000													5	145					0	0	1	0	0
TREML3P	340206	broad.mit.edu	37	6	41185500	41185500	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:41185500G>A	ENST00000564680.1	-	0	185																											GAATCATGGTGATTTTGAAGA	0.473000													4	30					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78487013	78487013	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:78487013G>A	ENST00000258873.4	-	3	493	c.288C>T	c.(286-288)ccC>ccT	p.P96P	ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000558828.1_5'UTR|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	96					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GTGGGCAGCTGGGGTCTATGC	0.632000													20	129					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28914391	28914391	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:28914391G>A	ENST00000395503.4	+	20	2969	c.2785G>A	c.(2785-2787)Gtg>Atg	p.V929M	ATP2A1_ENST00000536376.1_Missense_Mutation_p.V804M|ATP2A1_ENST00000357084.3_Missense_Mutation_p.V929M	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	929					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GCCACCCTGGGTGAACATCTG	0.632000													20	124					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347079	48347079	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:48347079C>T	ENST00000319856.4	+	1	608	c.587C>T	c.(586-588)cCc>cTc	p.P196L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTCTGTGGGCCCAATGTGATC	0.532000													7	84					0	0	1	0	0
RP3-368A4.5	0	broad.mit.edu	37	X	73423404	73423404	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73423404G>A	ENST00000603037.1	-	0	556																											GCAGCTAAACGAAATCAATGT	0.448000													3	4					0	0	1	0	0
RPSAP58	388524	broad.mit.edu	37	19	24010313	24010313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:24010313G>A	ENST00000496398.1	+	4	773	c.350G>A	c.(349-351)tGg>tAg	p.W117*	RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA|RPSAP58_ENST00000354585.4_Nonsense_Mutation_p.W117*																endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						GCAGCCTTCTGGGAGCCACGG	0.562000													4	38					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120382598	120382598	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:120382598C>T	ENST00000331113.4	+	4	2374	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	470					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GTTAGCAAATCCGGCTCCAGC	0.478000													16	151					0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111303384	111303384	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:111303384A>G	ENST00000257347.4	-	10	1114	c.1051T>C	c.(1051-1053)Tca>Cca	p.S351P	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	351					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GGCTCACCTGAGCGGTAGCTG	0.562000													7	82					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520110	23520110	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:23520110G>A	ENST00000374619.1	-	1	1112	c.603C>T	c.(601-603)tcC>tcT	p.S201S	HTR1D_ENST00000314113.3_Silent_p.S201S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	201					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCCCACAGGTGGAGTAGATGG	0.592000													25	56					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92251698	92251698	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:92251698G>A	ENST00000435962.2	-	11	1493	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TC2N_ENST00000340892.5_Silent_p.F390F|TC2N_ENST00000556018.1_Silent_p.F326F|TC2N_ENST00000360594.5_Silent_p.F390F	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	390	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CCACCTTCACGAAAAAACCTA	0.323000													12	158					0	0	1	0	0
STK39	27347	broad.mit.edu	37	2	169023840	169023840	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:169023840T>C	ENST00000355999.4	-	3	1104	c.399A>G	c.(397-399)gaA>gaG	p.E133E		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	133	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						CCAGCCAAAGTTCATCTTTGA	0.378000													4	39					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655635	40655635	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:40655635C>T	ENST00000406785.1	-	2	1975	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	SLC8A1_ENST00000408028.2_Missense_Mutation_p.E596K|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E596K|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E596K|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E596K|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E596K|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E596K|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E596K|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E596K|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E596K			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	596	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTCTGGAATTCGAGCTCTCCA	0.423000													5	28					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45393034	45393034	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:45393034G>A	ENST00000389039.6	-	23	3309	c.2924C>T	c.(2923-2925)tCc>tTc	p.S975F	DUOX2_ENST00000603300.1_Missense_Mutation_p.S975F			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	975	Interaction with TXNDC11 (By similarity).				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)		CTGGGGGTGGGAGCTGAGAAA	0.597000													6	66					0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96104197	96104197	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:96104197G>A	ENST00000278520.5	-	6	1617	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	CCDC82_ENST00000542662.1_Missense_Mutation_p.R397C|CCDC82_ENST00000423339.2_Missense_Mutation_p.R397C			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	397							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCTTTCCAACGACTTCTAGAT	0.398000													11	53					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101168367	101168367	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:101168367A>C	ENST00000259455.2	-	8	1752	c.1293T>G	c.(1291-1293)ttT>ttG	p.F431L		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	431					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GCCTACCTTGAAATTGAGTAA	0.313000													9	38					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76826570	76826570	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:76826570T>C	ENST00000278559.3	+	6	1018	c.829T>C	c.(829-831)Ttg>Ctg	p.L277L	CAPN5_ENST00000456580.2_Silent_p.L317L|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.L277L	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	277	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GTCAGAGAAGTTGGACATGAT	0.662000													9	36					0	0	1	0	0
BVES	11149	broad.mit.edu	37	6	105563561	105563561	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:105563561G>A	ENST00000314641.5	-	7	1174	c.958_splice	c.e7+1	p.H320_splice	BVES_ENST00000446408.2_Splice_Site_p.H320_splice|BVES_ENST00000336775.5_Splice_Site_p.H320_splice	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	320					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GATAACTTACGAAGAGAGGAC	0.443000													16	66					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389170	20389170	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20389170C>T	ENST00000315915.4	+	1	430	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I135I(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGTGGTCATCATGAGCCGAA	0.443000													18	456					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151160871	151160871	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:151160871A>G	ENST00000282466.3	-	5	5863	c.5864T>C	c.(5863-5865)tTt>tCt	p.F1955S		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1955	Ig-like C2-type 6.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTGTCCCCAAAATTCACTTC	0.507000													4	112					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79317679	79317679	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:79317679C>T	ENST00000419573.3	-	10	1793	c.1519G>A	c.(1519-1521)Gga>Aga	p.G507R	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.G507R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	507	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGCTTCCCTCCAGAGCCTCTG	0.587000													8	47					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726290	63726290	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:63726290C>T	ENST00000421025.1	+	5	548	c.279C>T	c.(277-279)ttC>ttT	p.F93F	ZNF679_ENST00000255746.4_Silent_p.F93F	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GTTCTCATTTCACCCAAGACC	0.318000													6	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179445076	179445076	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179445076C>T	ENST00000589042.1	-	317	67254	c.67030G>A	c.(67030-67032)Gaa>Aaa	p.E22344K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E13279K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13404K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E20703K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13471K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19776K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20703	Fibronectin type-III 62.						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)			ATGGTATATTCCTTTTTACCA	0.299000													8	130					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	98002504	98002504	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:98002504C>T	ENST00000224337.5	-	3	291	c.150G>A	c.(148-150)agG>agA	p.R50R	BLNK_ENST00000495266.1_Silent_p.R50R|BLNK_ENST00000427367.2_Silent_p.R50R|BLNK_ENST00000371176.2_Silent_p.R50R|BLNK_ENST00000413476.2_Silent_p.R50R	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	50					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AAGCGTAGTCCCTTCGAGGAA	0.398000													17	59					0	0	1	0	0
MICA	100507436	broad.mit.edu	37	6	31378929	31378929	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31378929G>A	ENST00000449934.2	+	3	460	c.406G>A	c.(406-408)Gat>Aat	p.D136N	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	136					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TTTCTACTACGATGGGGAGCT	0.547000													9	33					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34033266	34033266	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34033266G>A	ENST00000373381.4	-	53	8483	c.8307C>T	c.(8305-8307)ttC>ttT	p.F2769F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2746	Sushi 18.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGATCAGGCGGAAGCCAGCAT	0.557000													10	44					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157773657	157773657	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:157773657C>T	ENST00000358292.3	-	3	348	c.297G>A	c.(295-297)agG>agA	p.R99R	FCRL1_ENST00000491942.1_Silent_p.R99R|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Silent_p.R99R	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	99	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTGGGATCTCCTGCTCCTCA	0.547000													11	63					0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40129047	40129047	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:40129047C>T	ENST00000235628.1	-	4	492	c.493G>A	c.(493-495)Gcc>Acc	p.A165T		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	165					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTGTGATAGGCCTTGAGGTAG	0.527000													7	60					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112785	59112785	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:59112785T>G	ENST00000395153.3	+	4	1480	c.1333T>G	c.(1333-1335)Tca>Gca	p.S445A	DACT1_ENST00000556859.1_Missense_Mutation_p.S201A|DACT1_ENST00000335867.4_Missense_Mutation_p.S482A|DACT1_ENST00000541264.2_Missense_Mutation_p.S201A|DACT1_ENST00000395151.3_Missense_Mutation_p.S201A	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	482					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CGCTCAGCTCTCAGGGGCCTC	0.567000													25	91					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88703314	88703314	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:88703314C>T	ENST00000372027.4	-	6	1300	c.1227G>A	c.(1225-1227)gtG>gtA	p.V409V		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	409						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGATCTCATCCACGTGCCGGG	0.602000													10	70					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2503215	2503215	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:2503215C>T	ENST00000397066.4	+	14	1580	c.1492C>T	c.(1492-1494)Cat>Tat	p.H498Y		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	498					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TTCCAGCTTCCATGATGACGC	0.532000													12	59					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832469	24832469	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:24832469C>T	ENST00000376451.2	+	14	3579	c.3319C>T	c.(3319-3321)Ccc>Tcc	p.P1107S	KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1424S|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1424					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						AGAGATGACCCCCCGACAAGA	0.493000													5	37					0	0	1	0	0
RGS4	5999	broad.mit.edu	37	1	163044135	163044135	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:163044135G>A	ENST00000421743.2	+	6	854	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367909.6_Missense_Mutation_p.E135K|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367906.3_Missense_Mutation_p.E117K|RGS4_ENST00000527809.1_Missense_Mutation_p.E117K|RGS4_ENST00000367908.4_Missense_Mutation_p.G79E	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	135					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.E135K(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTGCACCAGGGAAGAGACAAG	0.493000													33	188					0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40093988	40093988	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:40093988G>A	ENST00000299092.3	-	4	1088	c.890C>T	c.(889-891)tCc>tTc	p.S297F	GPR176_ENST00000543580.1_Missense_Mutation_p.S253F|GPR176_ENST00000561100.1_Missense_Mutation_p.S298F	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	298					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CAAGAAGACGGAAGTGTCAGG	0.537000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	33					0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144081764	144081764	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:144081764G>A	ENST00000427704.2	+	5	778	c.648G>A	c.(646-648)acG>acA	p.T216T	PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000440869.2_Silent_p.T227T|PHACTR2_ENST00000305766.6_Intron	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	216							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GCCGAAACACGACCCGAGAGG	0.567000													6	58					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4724929	4724929	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:4724929C>T	ENST00000545990.2	-	6	3062	c.2538G>A	c.(2536-2538)ctG>ctA	p.L846L	AKAP3_ENST00000228850.1_Silent_p.L846L	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	846					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCAGCCAGTCCAGCAGCTGCA	0.602000													7	72					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82322052	82322052	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:82322052G>A	ENST00000376520.4	+	12	1779	c.951G>A	c.(949-951)ggG>ggA	p.G317G	TLE4_ENST00000376552.2_Intron|TLE4_ENST00000376534.4_Intron|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376537.4_Silent_p.G317G			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGGATATGGGGAAATTGAGTG	0.373000													19	76					0	0	1	0	0
VAMP3	9341	broad.mit.edu	37	1	7837362	7837362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:7837362G>A	ENST00000054666.6	+	3	330	c.215G>A	c.(214-216)tGg>tAg	p.W72*	VAMP3_ENST00000470357.1_Nonsense_Mutation_p.W44*	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	72	v-SNARE coiled-coil homology.				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		AGGAAATATTGGTGGAAGAAT	0.443000													5	25					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347241	71347241	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:71347241C>T	ENST00000413702.1	+	4	1068	c.780C>T	c.(778-780)gtC>gtT	p.V260V	MUC7_ENST00000456088.1_Silent_p.V260V|MUC7_ENST00000304887.5_Silent_p.V260V	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	260	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)			CCACAGCTGTCCCACCCACAC	0.592000													27	107					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194117579	194117579	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:194117579G>A	ENST00000401815.1	-	1	1504	c.1433C>T	c.(1432-1434)cCg>cTg	p.P478L	GP5_ENST00000323007.3_Missense_Mutation_p.P478L			P40197	GPV_HUMAN	glycoprotein V (platelet)	478					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		gcggggaggcgggccccgggg	0.781000													14	39					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91769874	91769874	+	Silent	SNP	C	C	T	rs148654261		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:91769874C>T	ENST00000394232.1	+	2	851	c.381C>T	c.(379-381)ttC>ttT	p.F127F	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Silent_p.F127F	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	127					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGAAGTGTTCGTGGTGAGTT	0.512000													4	53					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37586469	37586469	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:37586469C>T	ENST00000399151.3	+	8	1080	c.995C>T	c.(994-996)tCc>tTc	p.S332F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	332					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAAAAATACTCCAAGGATCTT	0.398000													5	56					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137674548	137674548	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:137674548G>A	ENST00000371817.3	+	29	2880	c.2466G>A	c.(2464-2466)atG>atA	p.M822I		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	822	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			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)		AAGGAGACATGGGCATCAAGG	0.597000													12	139					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48643238	48643238	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:48643238G>A	ENST00000263274.7	-	12	1496	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A	LIG1_ENST00000536218.1_Silent_p.A291A|LIG1_ENST00000427526.2_Silent_p.A328A	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	359					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTGTGGCCTGGGCCACTGCCT	0.612000								Nucleotide excision repair (NER)					16	115					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342456	40342456	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:40342456G>A	ENST00000406785.1	-	8	2940	c.2751C>T	c.(2749-2751)ctC>ctT	p.L917L	SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.L945L|SLC8A1_ENST00000406391.2_Silent_p.L917L|SLC8A1_ENST00000405901.3_Silent_p.L948L|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.L917L|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.L953L|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.L917L|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.L953L|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.L948L|SLC8A1_ENST00000542024.1_Silent_p.L917L|SLC8A1-AS1_ENST00000444629.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	953					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGAGCCATAGGAGCACAAAGA	0.493000													4	59					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72921280	72921280	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:72921280G>A	ENST00000553530.1	+	4	436	c.229G>A	c.(229-231)Gac>Aac	p.D77N	RGS6_ENST00000402788.2_Missense_Mutation_p.D77N|RGS6_ENST00000355512.6_Missense_Mutation_p.D77N|RGS6_ENST00000555571.1_Missense_Mutation_p.D77N|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000406236.4_Missense_Mutation_p.D77N|RGS6_ENST00000553525.1_Missense_Mutation_p.D77N|RGS6_ENST00000556437.1_Missense_Mutation_p.D77N|RGS6_ENST00000407322.4_Missense_Mutation_p.D77N|RGS6_ENST00000434263.2_Missense_Mutation_p.D8N|RGS6_ENST00000404301.2_Missense_Mutation_p.D77N|RGS6_ENST00000343854.6_Missense_Mutation_p.D77N	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	77	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTCCATTGAGGACCCAGGTAC	0.478000													13	63					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11485851	11485851	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:11485851C>T	ENST00000423059.3	-	13	3152	c.2901G>A	c.(2899-2901)ggG>ggA	p.G967G	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	967	TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGACCAGTTCCCCACAGGTT	0.398000										HNSCC(18;0.044)			26	138					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597992	179597992	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179597992G>A	ENST00000589042.1	-	54	16252	c.16028C>T	c.(16027-16029)tCc>tTc	p.S5343F	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S5026F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S4099F|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5026	Ig-like 34.						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)			AGTCTCACAGGAGCTGCTGCC	0.388000													10	82					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168575	50168575	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:50168575G>A	ENST00000284509.6	-	25	3068	c.2927C>T	c.(2926-2928)gCc>gTc	p.A976V	ATP8B4_ENST00000559829.1_Missense_Mutation_p.A976V	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	976					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GTTGTAAAAGGCCCCATAGGG	0.453000													10	58					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247751667	247751667	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:247751667G>A	ENST00000320065.1	+	1	6	c.6G>A	c.(4-6)ggG>ggA	p.G2G	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	2					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)			TACATATGGGGATGGTGAGAC	0.418000													8	73					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31598279	31598279	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:31598279G>A	ENST00000379416.3	-	15	1617	c.1569C>T	c.(1567-1569)gtC>gtT	p.V523V		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	523					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCTTCTGAAGGACTGTCAGGT	0.577000													23	102					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82446516	82446516	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:82446516T>C	ENST00000370717.2	+	18	3355	c.3139T>C	c.(3139-3141)Tta>Cta	p.L1047L	LPHN2_ENST00000370727.1_Silent_p.L1047L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000271029.4_Silent_p.L1047L|LPHN2_ENST00000394879.1_Silent_p.L1034L|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370725.1_Silent_p.L1047L|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370728.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000370723.1_Silent_p.L1034L|LPHN2_ENST00000370715.1_Intron			O95490	LPHN2_HUMAN	latrophilin 2	1034					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)		TAATACGGACTTACCTGGGTA	0.338000													10	121					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104440244	104440244	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:104440244A>T	ENST00000372582.1	+	3	926	c.170A>T	c.(169-171)tAc>tTc	p.Y57F	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.Y57F	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	57	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCCCTTTTCTACAGTTATATT	0.458000													14	45					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602780	138602780	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:138602780G>A	ENST00000440172.1	-	2	1640	c.1592C>T	c.(1591-1593)cCg>cTg	p.P531L	KIAA1549_ENST00000242365.4_Missense_Mutation_p.P481L|KIAA1549_ENST00000422774.1_Missense_Mutation_p.P531L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	531	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAGTGACGCCGGCACAGAGAG	0.542000			O	BRAF	pilocytic astrocytoma								3	12					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3907914	3907914	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:3907914G>A	ENST00000450849.2	+	5	1008	c.541G>A	c.(541-543)Gga>Aga	p.G181R	ATCAY_ENST00000398448.3_Missense_Mutation_p.G187R|ATCAY_ENST00000301260.6_Missense_Mutation_p.G181R|ATCAY_ENST00000600960.1_Missense_Mutation_p.G181R	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	181	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GGTCACCCACGGAGGTGAGAC	0.657000													3	20					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7866458	7866458	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:7866458G>A	ENST00000378789.3	-	6	918	c.867C>T	c.(865-867)ttC>ttT	p.F289F		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	289	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						CCCCGTCCAGGAAGACTTCCA	0.493000													20	108					0	0	1	0	0
NUDC	10726	broad.mit.edu	37	1	27269230	27269230	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:27269230C>T	ENST00000321265.5	+	5	632	c.509C>T	c.(508-510)cCc>cTc	p.P170L		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	170	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GCAGACCTGCCCAATTACCGC	0.557000													12	37					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649369	75649369	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:75649369G>A	ENST00000361470.2	+	1	1324	c.1046G>A	c.(1045-1047)gGt>gAt	p.G349D		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	349	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCCACTCCCGGTGAGGGACCA	0.697000													9	24					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816275	156816275	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156816275C>T	ENST00000347377.6	+	29	3717	c.3286C>T	c.(3286-3288)Ctg>Ttg	p.L1096L	CYFIP2_ENST00000541131.1_Silent_p.L1021L|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Silent_p.L900L|CYFIP2_ENST00000521420.1_Silent_p.L1070L|CYFIP2_ENST00000318218.6_Silent_p.L1121L|CYFIP2_ENST00000435847.2_Silent_p.L795L|CYFIP2_ENST00000377576.3_Silent_p.L1096L	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1121					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGAGGTCATCCTGACCCGCAT	0.617000													5	39					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45316359	45316359	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:45316359C>T	ENST00000313237.5	-	3	282	c.132G>A	c.(130-132)acG>acA	p.T44T	PHF21B_ENST00000447824.3_Silent_p.T32T|PHF21B_ENST00000396103.3_Silent_p.T44T|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Silent_p.T32T	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	44							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTGCAGTGATCGTTCCCAAAG	0.637000													3	14					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258407	56258407	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56258407G>A	ENST00000327216.2	-	1	464	c.440C>T	c.(439-441)cCt>cTt	p.P147L		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					ATACACATAAGGCACCGTGAT	0.527000													16	60					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616708	77616708	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:77616708G>A	ENST00000521891.2	+	2	833	c.385G>A	c.(385-387)Ggg>Agg	p.G129R	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G129R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G129R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G129R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	129						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			AAATCTAACAGGGGAGATCGT	0.493000										HNSCC(33;0.089)			15	56					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109384259	109384259	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:109384259C>T	ENST00000283195.6	+	20	7390	c.7264C>T	c.(7264-7266)Cgt>Tgt	p.R2422C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2422	RanBD1 3.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTAGCTGTTCGTTTTAAACT	0.368000													11	277					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137642638	137642638	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:137642638C>T	ENST00000371817.3	+	13	1986	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	524	Interrupted collagenous 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			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)		ACTTGCAGTTCCGGTTTGGAG	0.632000													3	29					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077663	19077663	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:19077663G>A	ENST00000329773.2	-	2	374	c.287C>T	c.(286-288)tCc>tTc	p.S96F		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	96					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GATGGAGATGGAACAGAAGAA	0.547000													12	79					0	0	1	0	0
CLIC6	54102	broad.mit.edu	37	21	36080267	36080267	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:36080267G>A	ENST00000360731.3	+	4	1564	c.1564G>A	c.(1564-1566)Gct>Act	p.A522T	CLIC6_ENST00000349499.2_Missense_Mutation_p.A504T			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	522						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GCAGAACCTGGCTCCCGGAAC	0.522000													7	67					0	0	1	0	0
CERS2	29956	broad.mit.edu	37	1	150939604	150939604	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:150939604G>A	ENST00000271688.6	-	8	1073	c.687C>T	c.(685-687)atC>atT	p.I229I	CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Silent_p.I220I|CERS2_ENST00000368954.5_Silent_p.I229I	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	229	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCCCAGCTCGGATGTAATTGG	0.512000													7	65					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9080501	9080501	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9080501C>T	ENST00000397910.4	-	2	9733	c.9530G>A	c.(9529-9531)gGa>gAa	p.G3177E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3178	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A3175fs*111(1)		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						CGTGGAATTTCCTTGTGCTGC	0.498000													6	119					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103322324	103322324	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:103322324G>A	ENST00000233969.2	+	11	2139	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	666						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCAACCTCCCGATATTTATCC	0.303000													5	35					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712476	121712476	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121712476G>A	ENST00000273691.3	-	6	1093	c.988C>T	c.(988-990)Cct>Tct	p.P330S	ILDR1_ENST00000344209.5_Missense_Mutation_p.P374S|ILDR1_ENST00000393631.1_Missense_Mutation_p.P285S|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.P342S	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	374						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGGAAATCAGGGTAATGGTGG	0.597000													4	62					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121625524	121625524	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:121625524G>A	ENST00000275159.6	-	8	921	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	TBC1D32_ENST00000398212.2_Missense_Mutation_p.R308C					TBC1 domain family, member 32																		TCTGGATGACGAATCCAGAAA	0.398000													11	48					0	0	1	0	0
SH2D5	400745	broad.mit.edu	37	1	21050577	21050577	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:21050577G>A	ENST00000375031.1	-	6	1170	c.547_splice	c.e6+1	p.A182_splice	SH2D5_ENST00000444387.2_Splice_Site_p.A266_splice|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	182										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACAACTCACAGGCCTCCCGAG	0.662000													5	60					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508123	106508123	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:106508123C>T	ENST00000359195.3	+	2	427	c.117C>T	c.(115-117)ccC>ccT	p.P39P	PIK3CG_ENST00000496166.1_Silent_p.P39P|PIK3CG_ENST00000440650.2_Silent_p.P39P	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	39					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCTCATCCCCATCGAGTTCG	0.652000													8	87					0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52862859	52862859	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:52862859C>T	ENST00000252250.6	-	9	1729	c.1682G>A	c.(1681-1683)aGc>aAc	p.S561N		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	561	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTGCTTGTAGCTCTTCCTGCT	0.602000													6	84					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617668	77617668	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:77617668A>G	ENST00000521891.2	+	2	1793	c.1345A>G	c.(1345-1347)Aaa>Gaa	p.K449E	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K449E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K449E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K449E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	449						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			TGAAAGGCCAAAAGAAAGCAA	0.483000										HNSCC(33;0.089)			3	27					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108609544	108609544	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:108609544G>A	ENST00000264047.2	+	4	685	c.409G>A	c.(409-411)Gga>Aga	p.G137R	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G32R|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G137R	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	137					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGCACTGATGGGAGAAATGTT	0.438000													7	44					0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6664984	6664984	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:6664984G>A	ENST00000326176.9	-	5	949	c.568C>T	c.(568-570)Cga>Tga	p.R190*	TNFSF14_ENST00000245912.3_Nonsense_Mutation_p.R190*|TNFSF14_ENST00000599359.1_Nonsense_Mutation_p.R226*	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	226					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TCACGCAGTCGAACCAGGCGT	0.602000													15	141					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201355513	201355513	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:201355513C>T	ENST00000391967.2	-	3	1277	c.976G>A	c.(976-978)Gct>Act	p.A326T	LAD1_ENST00000367313.3_Missense_Mutation_p.A340T	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	326						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGGTCTGAAGCCCCCTGCTTT	0.672000													4	11					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233898927	233898927	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:233898927C>T	ENST00000233840.3	+	2	303	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	101							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		TCTTCCTCTTCTTCATTGCCA	0.637000													10	95					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594501	123594501	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:123594501G>A	ENST00000340011.5	+	3	1234	c.877G>A	c.(877-879)Gat>Aat	p.D293N	SPAM1_ENST00000439500.1_Missense_Mutation_p.D293N|SPAM1_ENST00000223028.7_Missense_Mutation_p.D293N|SPAM1_ENST00000402183.2_Missense_Mutation_p.D293N|SPAM1_ENST00000460182.1_Missense_Mutation_p.D293N	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	293					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.D293H(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CAAAATACCTGATGCAAAAAG	0.413000													9	39					0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544614	115544614	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:115544614G>A	ENST00000310836.6	+	2	1100	c.578G>A	c.(577-579)aGg>aAg	p.R193K	UGT8_ENST00000394511.3_Missense_Mutation_p.R193K	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	193					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TTGCTGCAAAGGATGAAAAAT	0.468000													9	64					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120459206	120459206	+	Missense_Mutation	SNP	G	G	A	rs140353589		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:120459206G>A	ENST00000256646.2	-	34	6358	c.6139C>T	c.(6139-6141)Cgg>Tgg	p.R2047W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2047					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCACATCCCGGGGAAGACGA	0.537000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				7	50					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8999499	8999499	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:8999499C>T	ENST00000397910.4	-	56	40879	c.40676G>A	c.(40675-40677)aGc>aAc	p.S13559N	MUC16_ENST00000380951.5_Missense_Mutation_p.S200N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13561	SEA 10.			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						CAGTCCAGGGCTTTTGGGATC	0.587000													21	101					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720751	140720751	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140720751C>T	ENST00000394576.2	+	1	2213	c.2213C>T	c.(2212-2214)tCg>tTg	p.S738L	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)			ATGCAGAGCTCGCACTTTGTG	0.632000													8	85					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459285	92459285	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:92459285C>T	ENST00000318445.6	+	2	457	c.243C>T	c.(241-243)atC>atT	p.I81I	SLCO3A1_ENST00000424469.2_Silent_p.I81I	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	81					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TGGGTGTGATCGCTAGCAGCT	0.642000													13	104					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47778094	47778094	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:47778094C>T	ENST00000398545.4	-	4	651	c.534G>A	c.(532-534)gaG>gaA	p.E178E		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	178										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CTTTCCGCTCCTCACACACCT	0.463000													18	297					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143779	56143779	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56143779G>A	ENST00000302270.1	+	1	680	c.680G>A	c.(679-681)aGg>aAg	p.R227K		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GCCATCCTGAGGATGCATTCA	0.453000													10	66					0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242684291	242684291	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:242684291C>T	ENST00000321264.4	+	6	1061	c.853_splice	c.e6+1	p.L284_splice	D2HGDH_ENST00000403782.1_Splice_Site_p.L150_splice|D2HGDH_ENST00000537090.1_Splice_Site_p.L284_splice|D2HGDH_ENST00000342518.6_Splice_Site_p.L284_splice	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	284					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833)		TGGCTTTCCTCGGTGGGCTTC	0.602000													16	64					0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52220399	52220399	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:52220399G>A	ENST00000540069.2	-	3	807	c.747C>T	c.(745-747)ctC>ctT	p.L249L	HAS1_ENST00000594621.1_Silent_p.L104L|HAS1_ENST00000222115.1_Silent_p.L250L|HAS1_ENST00000601714.1_Silent_p.L257L			Q92839	HAS1_HUMAN	hyaluronan synthase 1	250					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTACCCGCACGAGCTCCAGCA	0.627000													8	72					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202675	39202675	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:39202675G>A	ENST00000351578.6	-	2	578	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	FYB_ENST00000540520.1_Missense_Mutation_p.P140S|FYB_ENST00000515010.1_Missense_Mutation_p.P130S|FYB_ENST00000512982.1_Missense_Mutation_p.P130S|FYB_ENST00000505428.1_Missense_Mutation_p.P130S	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	130					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GGAGGCCAGGGAAATGTAGGT	0.517000													23	67					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47299717	47299717	+	Splice_Site	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:47299717T>G	ENST00000342922.4	+	6	1454	c.1095_splice	c.e6-1	p.L366_splice	MADD_ENST00000489415.1_3'UTR|MADD_ENST00000311027.5_Splice_Site_p.L366_splice|MADD_ENST00000406482.1_Splice_Site_p.L366_splice|MADD_ENST00000395336.3_Splice_Site_p.L366_splice|MADD_ENST00000395344.3_Splice_Site_p.L366_splice|MADD_ENST00000407859.3_Splice_Site_p.L366_splice|MADD_ENST00000349238.3_Splice_Site_p.L366_splice|MADD_ENST00000402192.2_Splice_Site_p.L366_splice|MADD_ENST00000402799.1_Splice_Site_p.L366_splice	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	366	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TTTCCACAGCTGCTGTTGGCT	0.433000													19	156					0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42135969	42135969	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:42135969G>A	ENST00000382448.4	+	16	1541	c.1532G>A	c.(1531-1533)aGg>aAg	p.R511K	PLA2G4B_ENST00000452633.1_Missense_Mutation_p.R280K|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R280K|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R511K	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		280	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GCGGCCTTGAGGCAGGCCCTG	0.687000													9	54					0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51397267	51397267	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:51397267C>T	ENST00000327536.5	-	1	206	c.107G>A	c.(106-108)aGg>aAg	p.R36K	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	36										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		CGTGGCATCCCTTGTGCCTTG	0.522000													15	92					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146708079	146708079	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:146708079G>A	ENST00000392299.2	+	7	2126	c.1656G>A	c.(1654-1656)gaG>gaA	p.E552E	GRM1_ENST00000361719.2_Silent_p.E552E|GRM1_ENST00000282753.1_Silent_p.E552E|GRM1_ENST00000507907.1_Silent_p.E552E|GRM1_ENST00000492807.2_Silent_p.E552E|GRM1_ENST00000355289.4_Silent_p.E552E			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	552					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCTGCAAAGAGAATGAATATG	0.423000													14	90					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107416947	107416947	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:107416947G>A	ENST00000340010.5	-	15	1811	c.1627C>T	c.(1627-1629)Cct>Tct	p.P543S	SLC26A3_ENST00000422236.2_Missense_Mutation_p.P508S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	543	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AAGTAGATAGGAGATGGACAT	0.358000													25	54					0	0	1	0	0
APOM	55937	broad.mit.edu	37	6	31625493	31625493	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31625493G>A	ENST00000375916.3	+	5	1030	c.534G>A	c.(532-534)agG>agA	p.R178R	APOM_ENST00000375920.4_Silent_p.R106R|APOM_ENST00000375918.2_Silent_p.R106R	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	178				LTPRNQEACELSNN -> VDS (in Ref. 2; CAB51604).	cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						TGACTCCTAGGAATCAAGGTA	0.488000													39	103					0	0	1	0	0
EN1	2019	broad.mit.edu	37	2	119600567	119600567	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:119600567C>T	ENST00000295206.6	-	2	1636	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	376					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						TTGTACAGTCCCTGGGCCATG	0.652000													10	56					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112622519	112622519	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:112622519G>A	ENST00000550722.1	-	61	10208	c.9813C>T	c.(9811-9813)atC>atT	p.I3271I	HECTD4_ENST00000430131.2_Silent_p.I2995I|HECTD4_ENST00000377560.5_Silent_p.I3245I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGGCCTTGCGGATGGCGCCTC	0.652000													9	145					0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013041	142013041	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142013041C>T	ENST00000390357.3	+	0	35																											CTAGCATGGGCTGCAGGCTGC	0.582000													7	49					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134628401	134628401	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:134628401C>T	ENST00000368586.5	-	51	7235	c.7135G>A	c.(7135-7137)Gag>Aag	p.E2379K	TTC40_ENST00000263170.5_Missense_Mutation_p.E540K	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	540										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTTCTTCCCTCCTTTTTCACG	0.577000													14	160					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143090921	143090921	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143090921G>A	ENST00000275815.3	-	16	2625	c.2539C>T	c.(2539-2541)Cct>Tct	p.P847S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	847	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TCCACAGGAGGGGGCAACCGG	0.582000													10	112					0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44387218	44387218	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:44387218G>A	ENST00000371477.3	+	9	1424	c.1125G>A	c.(1123-1125)gtG>gtA	p.V375V		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	375	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCACCAATGTGGACACCCCAT	0.453000													4	75					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643034	1643034	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:1643034G>A	ENST00000399682.1	-	1	334	c.290C>T	c.(289-291)tCc>tTc	p.S97F		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	97	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCCTTGGAACCCCCACA	0.687000													14	128					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617425	77617425	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:77617425C>T	ENST00000521891.2	+	2	1550	c.1102C>T	c.(1102-1104)Cat>Tat	p.H368Y	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H368Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H368Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H368Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	368						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			GAGCGCTTTTCATGTTGAAAA	0.483000										HNSCC(33;0.089)			7	50					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39635664	39635664	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39635664C>T	ENST00000246639.2	-	3	688	c.556G>A	c.(556-558)Gac>Aac	p.D186N	KRT35_ENST00000393989.1_Missense_Mutation_p.D216N			Q92764	KRT35_HUMAN	keratin 35	216	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GCCTCCAGGTCAGACTTGCAC	0.602000													13	71					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	105937347	105937347	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:105937347G>A	ENST00000324342.3	+	1	280	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	56						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TTATTACAATGAAACCAGCAA	0.383000													13	51					0	0	1	0	0
RCBTB1	55213	broad.mit.edu	37	13	50123659	50123659	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:50123659G>A	ENST00000378302.2	-	9	1240	c.980C>T	c.(979-981)tCc>tTc	p.S327F	RCBTB1_ENST00000258646.3_Missense_Mutation_p.S327F|RCBTB1_ENST00000546015.1_Missense_Mutation_p.S327F	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	327					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|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;4.7e-09)		GTCGGTGCAGGAGAAGTGGGT	0.642000													4	45					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868527	150868527	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:150868527T>C	ENST00000370353.3	+	3	457	c.67T>C	c.(67-69)Ttc>Ctc	p.F23L	PRRG3_ENST00000370354.1_Missense_Mutation_p.F31L|PRRG3_ENST00000538575.1_Missense_Mutation_p.F23L			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	23	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)					TGCCAATGAGTTCCTGGAGGA	0.557000													9	23					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60909298	60909298	+	Missense_Mutation	SNP	G	G	A	rs138625956		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:60909298G>A	ENST00000252999.3	-	22	2749	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	895	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)	AACTCGAGGGGGTTGAAGCCA	0.667000													7	27					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043374	20043374	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20043374G>A	ENST00000570682.1	-	2	1045	c.745C>T	c.(745-747)Ctt>Ttt	p.L249F		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	249						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGGTGGTAAAGAATCATGATG	0.537000													9	75					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746652	95746652	+	Silent	SNP	C	C	T	rs144822361		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:95746652C>T	ENST00000311106.3	-	8	1158	c.921G>A	c.(919-921)tcG>tcA	p.S307S	PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.S260S	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	307	Catalytic.		S -> L (in PC1 deficiency; in vitro the mutation markedly impairs the catalytic activity of the enzyme; however intracellular trafficking of this mutant enzyme appears normal; retains some autocatalytic activity even though it is completely inactive on other substrates).		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)	CCCCGTTTCCCGAAGCCCAGA	0.512000													35	147					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39742750	39742750	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:39742750G>A	ENST00000361337.2	+	15	1843	c.1593G>A	c.(1591-1593)ggG>ggA	p.G531G	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	531					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	ACTTCCTCGGGAAGGACTCCA	0.463000			T	NUP98	AML*								12	76					0	0	1	0	0
HMMR	3161	broad.mit.edu	37	5	162902493	162902493	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:162902493C>T	ENST00000416990.2	+	11	1235	c.738C>T	c.(736-738)ctC>ctT	p.L246L	HMMR_ENST00000358715.3_Silent_p.L360L|HMMR_ENST00000353866.3_Silent_p.L345L|HMMR_ENST00000393915.4_Silent_p.L361L|HMMR_ENST00000432118.2_Silent_p.L274L			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	360						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		ATCAGAAGCTCTGTTCTTTTC	0.353000													6	57					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18960947	18960947	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:18960947C>T	ENST00000262803.5	+	4	797	c.525C>T	c.(523-525)ccC>ccT	p.P175P	UPF1_ENST00000599848.1_Silent_p.P175P|UPF1_ENST00000600310.1_3'UTR	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	175	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						AGGACGGGCCCCTGGGGGAGA	0.542000													13	114					0	0	1	0	0
LY6G6D	58530	broad.mit.edu	37	6	31683139	31683139	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31683139C>T	ENST00000375825.3	+	1	7	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	LY6G6F_ENST00000556581.1_Intron|MEGT1_ENST00000503322.1_Intron	NM_021246.2	NP_067069.2			lymphocyte antigen 6 complex, locus G6D											central_nervous_system(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						TGCGATGAAACCCCAGTTTGT	0.642000													10	60					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747998	143747998	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143747998C>T	ENST00000408906.2	+	1	538	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F168F(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GGCTGCCCTTCTGTGGGCCCC	0.547000													16	231					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063956	9063956	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9063956G>A	ENST00000397910.4	-	3	23693	c.23490C>T	c.(23488-23490)acC>acT	p.T7830T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7832	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						TCAATCCAGGGGTCAGGGAGG	0.542000													12	74					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57114891	57114891	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:57114891G>A	ENST00000454682.1	-	3	704	c.423C>T	c.(421-423)gcC>gcT	p.A141A	NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Silent_p.A141A|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGGAGCCAGGGCAACCAGAG	0.542000			T	BCL6	NHL								5	30					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483745	26483745	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:26483745C>T	ENST00000295589.3	-	5	996	c.802G>A	c.(802-804)Ggg>Agg	p.G268R		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	268					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.G268W(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGTAACACCCATCGCTGTCC	0.602000													6	99					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306696	41306696	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:41306696G>A	ENST00000373198.3	-	7	1198	c.963C>T	c.(961-963)atC>atT	p.I321I	PTPRT_ENST00000373190.1_Silent_p.I321I|PTPRT_ENST00000373193.3_Silent_p.I321I|PTPRT_ENST00000373187.1_Silent_p.I321I|PTPRT_ENST00000373184.1_Silent_p.I321I|PTPRT_ENST00000356100.2_Silent_p.I321I|PTPRT_ENST00000373201.1_Silent_p.I321I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	321	Fibronectin type-III 1.				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)				CTTCCTTCAGGATGATGGGGC	0.582000													20	64					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131640552	131640552	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:131640552G>A	ENST00000368648.3	-	13	1245	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	EBF3_ENST00000355311.5_Silent_p.I400I	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	400					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCTTCAAGATGATCTCCTGCA	0.672000													8	63					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047124	9047124	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9047124G>A	ENST00000397910.4	-	5	34710	c.34507C>T	c.(34507-34509)Ccc>Tcc	p.P11503S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11505	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						GTTGTCCTGGGAACCATTGTG	0.507000													14	79					0	0	1	0	0
ZNF692	55657	broad.mit.edu	37	1	249151506	249151506	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:249151506G>A	ENST00000451251.1	-	4	762	c.417C>T	c.(415-417)ccC>ccT	p.P139P	ZNF692_ENST00000306601.4_Silent_p.P134P|ZNF692_ENST00000427146.1_Silent_p.P134P|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366469.5_Silent_p.P134P|ZNF692_ENST00000366471.3_Silent_p.P134P	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AGGCTGGCTTGGGTGCCTCTG	0.602000													12	80					0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70511718	70511718	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:70511718C>T	ENST00000276079.8	+	4	449	c.244C>T	c.(244-246)Cct>Tct	p.P82S	NONO_ENST00000373856.3_Missense_Mutation_p.P82S|NONO_ENST00000535149.1_5'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.P82S	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	82	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GGGAAATCTTCCTCCCGACAT	0.418000			T	TFE3	papillary renal cancer								13	57					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40557098	40557098	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:40557098C>T	ENST00000455577.2	+	4	1024	c.112C>T	c.(112-114)Cca>Tca	p.P38S	PAK6_ENST00000560346.1_Missense_Mutation_p.P38S|RP11-133K1.2_ENST00000558658.1_Silent_p.P131P|PAK6_ENST00000453867.1_Missense_Mutation_p.P38S|PAK6_ENST00000260404.4_Missense_Mutation_p.P38S|PAK6_ENST00000441369.1_Missense_Mutation_p.P38S|PAK6_ENST00000542403.2_Missense_Mutation_p.P38S	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	38	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GGGCCTCCCCCCACAATGGCA	0.592000													8	94					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89086852	89086852	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:89086852C>T	ENST00000286614.6	-	7	1484	c.1203G>A	c.(1201-1203)ggG>ggA	p.G401G	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	401	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ACACAAAATTCCCGTCGCTAT	0.398000													4	55					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137708903	137708903	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:137708903C>T	ENST00000371817.3	+	53	4568	c.4154C>T	c.(4153-4155)cCa>cTa	p.P1385L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1385	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			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)		GAACCAGGTCCATCGGGGCCT	0.542000													14	40					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101100660	101100660	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:101100660A>C	ENST00000369162.2	-	18	3273	c.2929T>G	c.(2929-2931)Tcc>Gcc	p.S977A		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	977					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCAGTTGAGGAAAAATATCCA	0.358000													4	26					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685663	108685663	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:108685663C>T	ENST00000397688.2	-	3	1440	c.1071G>A	c.(1069-1071)atG>atA	p.M357I	CMKLR1_ENST00000412676.1_Missense_Mutation_p.M359I|CMKLR1_ENST00000550402.1_Missense_Mutation_p.M359I|CMKLR1_ENST00000312143.7_Missense_Mutation_p.M359I|CMKLR1_ENST00000552995.1_Missense_Mutation_p.M357I	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	359					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCCTCTCATTCATTGATGACA	0.502000													4	56					0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57505831	57505831	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:57505831C>T	ENST00000278422.4	+	4	382	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	TMX2_ENST00000378312.4_Silent_p.L86L|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	124	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TTTAGTGTTCCTGATGACGTG	0.403000													10	95					0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483636	59483636	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:59483636G>A	ENST00000312828.3	-	2	1160	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	21					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CTGCGCCGGGGGCTGTAGTAA	0.597000													17	84					0	0	1	0	0
SFXN1	94081	broad.mit.edu	37	5	174936162	174936162	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:174936162C>T	ENST00000321442.5	+	3	546	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	SFXN1_ENST00000502393.1_Missense_Mutation_p.P98S	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	98					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGCCCAGGTTCCCATGAACAT	0.378000													18	110					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43413826	43413826	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:43413826G>A	ENST00000310826.5	-	3	562	c.379C>T	c.(379-381)Cca>Tca	p.P127S	ZBTB21_ENST00000398511.3_Missense_Mutation_p.P127S|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Missense_Mutation_p.P127S|ZBTB21_ENST00000398499.1_Missense_Mutation_p.P127S	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		GGACACGTTGGAAAGGGGGCT	0.408000													7	40					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109031453	109031453	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:109031453C>T	ENST00000478945.1	-	3	366	c.120G>A	c.(118-120)atG>atA	p.M40I		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	40						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGCTTGGTTCCATTTGTTCCA	0.413000													7	118					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603106	140603106	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140603106G>A	ENST00000239449.4	+	1	29	c.29G>A	c.(28-30)cGa>cAa	p.R10Q	PCDHB14_ENST00000515856.2_5'UTR	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		10					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGATCTGCGAAAAAGGCAA	0.453000													12	41					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23900200	23900200	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:23900200C>T	ENST00000355349.3	-	10	967	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	269	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTGGATTTTTCCAGAAGATCT	0.408000													7	61					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215843681	215843681	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:215843681G>A	ENST00000272895.7	-	32	5043	c.4824C>T	c.(4822-4824)ctC>ctT	p.L1608L	ABCA12_ENST00000389661.4_Silent_p.L1290L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1608					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)		TATCCTCCTTGAGGTAGGCTT	0.483000													13	61					0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17588656	17588656	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:17588656C>T	ENST00000319363.6	+	12	1218	c.1085C>T	c.(1084-1086)aCc>aTc	p.T362I		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	362					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ACCAAATACACCGGTCAGTAT	0.453000													11	48					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951203	119951203	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:119951203G>A	ENST00000307142.4	+	4	1469	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	SYNPO2_ENST00000429713.2_Missense_Mutation_p.E425K|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E425K	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	425	Poly-Glu.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGACGAGGAGGAAGAAGGTGA	0.507000													10	46					0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810979	65810979	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:65810979G>A	ENST00000312006.4	-	3	576	c.295C>T	c.(295-297)Ccg>Tcg	p.P99S	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P99S	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	99					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TCGCAGCTCGGGTGCGGCAGG	0.667000													4	38					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480062	73480062	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:73480062A>T	ENST00000523207.1	+	2	681	c.93A>T	c.(91-93)aaA>aaT	p.K31N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	31					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)			TCCGGAGCAAAACATGCTCCA	0.552000													10	83					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10426691	10426691	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10426691C>T	ENST00000245503.5	-	38	5895	c.5511G>A	c.(5509-5511)aaG>aaA	p.K1837K	MYH2_ENST00000397183.2_Silent_p.K1837K|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1837					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						CAGCATTACGCTTTTGCTCAC	0.473000													22	76					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44249171	44249171	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:44249171G>A	ENST00000262419.6	-	2	809	c.339C>T	c.(337-339)ctC>ctT	p.L113L	KANSL1_ENST00000572904.1_Silent_p.L113L|KANSL1_ENST00000432791.1_Silent_p.L113L|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.L113L|KANSL1_ENST00000574590.1_Silent_p.L113L	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	113						MLL1 complex	protein binding										ACTGAGATAAGAGAGGATGAG	0.443000													9	207					0	0	1	0	0
MOB1A	55233	broad.mit.edu	37	2	74386227	74386227	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:74386227G>A	ENST00000396049.3	-	5	757	c.564C>T	c.(562-564)ttC>ttT	p.F188F	MOB1A_ENST00000497054.1_5'UTR	NM_018221.3	NP_060691.2	Q9H8S9	MOL1B_HUMAN	MOB kinase activator 1A	188					hippo signaling cascade		metal ion binding|protein binding										CCTGAACAAAGAAAATAAAGT	0.413000													8	108					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214828663	214828663	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:214828663C>T	ENST00000366955.3	+	17	8570	c.8402C>T	c.(8401-8403)tCc>tTc	p.S2801F		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2897	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTGATCAAATCCTGTAAACAG	0.398000													7	37					0	0	1	0	0
ILKAP	80895	broad.mit.edu	37	2	239079612	239079612	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:239079612G>A	ENST00000254654.3	-	11	1185	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	337	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GAAGTTCACGGCTTCTTCTGG	0.463000													13	163					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160718047	160718047	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:160718047C>T	ENST00000368043.3	+	2	156	c.119C>T	c.(118-120)cCc>cTc	p.P40L	SLAMF7_ENST00000444090.2_Missense_Mutation_p.P40L|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000368042.3_Intron|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000359331.4_Missense_Mutation_p.P40L|SLAMF7_ENST00000441662.2_Missense_Mutation_p.P40L|SLAMF7_ENST00000488819.1_3'UTR	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	40					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTGACTTTCCCCCTGAAGTCC	0.507000													6	52					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141321703	141321703	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:141321703C>T	ENST00000325617.5	-	7	942	c.501_splice	c.e7-1	p.E168_splice	CLGN_ENST00000537281.1_Splice_Site_p.E168_splice|CLGN_ENST00000414773.1_Splice_Site_p.E168_splice	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	168					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TAAAAGTTTTCCTTCAAAGAG	0.294000													3	13					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102944	22102944	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22102944G>A	ENST00000542433.1	-	1	152	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GACAAACCCAGAAGAATGAAA	0.463000													9	100					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713783	142713783	+	RNA	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:142713783T>A	ENST00000369381.2	-	0	822																											CATTGTCATTTTTCATTGTGC	0.289000													7	29					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1414074	1414074	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:1414074C>T	ENST00000446702.2	+	13	2211	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	CNTN6_ENST00000539053.1_Silent_p.S456S|CNTN6_ENST00000350110.2_Silent_p.S528S			Q9UQ52	CNTN6_HUMAN	contactin 6	528	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATGACCCCTCCATTGAAGTGG	0.418000													8	41					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043470	20043470	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20043470G>A	ENST00000570682.1	-	2	949	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	217						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CCACGGAGACGAAAATTGCTC	0.507000													9	72					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122033565	122033565	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:122033565C>T	ENST00000334010.7	-	19	3233	c.2812G>A	c.(2812-2814)Gat>Aat	p.D938N	CADPS2_ENST00000412584.2_Missense_Mutation_p.D934N|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.D934N|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000449022.2_Missense_Mutation_p.D940N	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	940	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCCATGAGATCCACATAGCGG	0.443000													5	105					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088013	86088013	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:86088013G>A	ENST00000330753.4	+	2	922	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	FLRT2_ENST00000554746.1_Missense_Mutation_p.R52Q	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	52	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGTAATGAGCGAAGCTTGACC	0.517000													11	96					0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16091591	16091591	+	Missense_Mutation	SNP	G	G	A	rs146575757	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16091591G>A	ENST00000375766.3	+	3	753	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	FBLIM1_ENST00000441801.2_Missense_Mutation_p.R38Q|FBLIM1_ENST00000375771.1_Missense_Mutation_p.R38Q|FBLIM1_ENST00000400773.1_Missense_Mutation_p.R38Q|FBLIM1_ENST00000332305.5_Missense_Mutation_p.R38Q	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	38	Filamin-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TGTGAGGCCCGGCGTGGCCGC	0.697000													21	65					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38278040	38278040	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:38278040G>A	ENST00000553443.1	+	24	4558	c.4558G>A	c.(4558-4560)Gaa>Aaa	p.E1520K	TTC6_ENST00000267368.7_Missense_Mutation_p.E154K|TTC6_ENST00000476979.1_Missense_Mutation_p.E154K|TTC6_ENST00000382320.3_Missense_Mutation_p.E234K					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		CAAGATAAGGGAACTTCAAAT	0.279000													17	60					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76503713	76503713	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:76503713C>T	ENST00000389840.5	-	28	4523	c.4399G>A	c.(4399-4401)Gag>Aag	p.E1467K	DNAH17_ENST00000585328.1_Missense_Mutation_p.E1468K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTGTCACCTCCTTCAGGAAG	0.582000													4	30					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170042421	170042421	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:170042421T>G	ENST00000263816.3	-	50	9722	c.9437A>C	c.(9436-9438)gAc>gCc	p.D3146A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3146	EGF-like 11.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTCCGCTTGTCAGACATGAG	0.458000													4	60					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60641149	60641149	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:60641149C>T	ENST00000278853.5	+	9	1473	c.1473C>T	c.(1471-1473)gcC>gcT	p.A491A		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	491	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AAATGGTAGCCTTGGACGGGG	0.582000													5	107					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32395921	32395921	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:32395921C>T	ENST00000283365.9	+	8	1003	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000399121.5_Missense_Mutation_p.P218S|DTNA_ENST00000315456.6_Missense_Mutation_p.P218S|DTNA_ENST00000598774.1_Missense_Mutation_p.P218S|DTNA_ENST00000399113.3_Missense_Mutation_p.P218S|DTNA_ENST00000444659.1_Missense_Mutation_p.P218S|DTNA_ENST00000598142.1_Missense_Mutation_p.P218S|DTNA_ENST00000598334.1_Missense_Mutation_p.P218S|DTNA_ENST00000595022.1_Missense_Mutation_p.P218S|DTNA_ENST00000554864.3_Missense_Mutation_p.P218S|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000269191.6_Missense_Mutation_p.P218S|DTNA_ENST00000348997.5_Missense_Mutation_p.P218S|DTNA_ENST00000269190.7_Missense_Mutation_p.P218S|DTNA_ENST00000597599.1_Missense_Mutation_p.P218S	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	218	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GTCAGATCCTCCCCCGCAGTG	0.398000													7	80					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113786575	113786575	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:113786575C>T	ENST00000259213.4	-	4	309	c.202G>A	c.(202-204)Gga>Aga	p.G68R	IL36B_ENST00000327407.2_Missense_Mutation_p.G68R	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	68					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						AGATCTTTTCCCTTGATTCCC	0.413000													13	64					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378150	31378150	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:31378150C>T	ENST00000297142.3	-	2	1055	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	245					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GAAGTACTTTCATAGAAGGAT	0.473000													8	56					0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4500442	4500442	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:4500442C>T	ENST00000262375.6	+	10	1360	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V	DNAJA3_ENST00000355296.4_Missense_Mutation_p.A428V|DNAJA3_ENST00000431375.2_Missense_Mutation_p.A275V	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	428					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CTGAGCTACGCCGAGGACGAG	0.607000													3	13					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335512	20335512	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20335512G>A	ENST00000302555.5	-	3	310	c.161C>T	c.(160-162)cCa>cTa	p.P54L	GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.P54L|GP2_ENST00000341642.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	54						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATGAGCCTCTGGGGTGCCAGG	0.547000													11	55					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49292128	49292128	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:49292128G>A	ENST00000559471.1	-	16	2568	c.2305C>T	c.(2305-2307)Cct>Tct	p.P769S	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.P724S|SECISBP2L_ENST00000559122.1_5'UTR	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	769										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AACACAAAAGGAATTTCTTGT	0.463000													9	53					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141079559	141079559	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:141079559C>T	ENST00000389484.3	-	82	13584	c.12613G>A	c.(12613-12615)Ggc>Agc	p.G4205S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4205					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGCAGGTGCCATTAATCAAA	0.378000										TSP Lung(27;0.18)			5	59					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857449	68857449	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:68857449G>A	ENST00000361320.4	+	3	2219	c.1641G>A	c.(1639-1641)acG>acA	p.T547T	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	547						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CCTTTGAAACGAATGCACAGG	0.463000													6	69					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44273936	44273936	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:44273936G>A	ENST00000262888.3	-	5	1260	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	289	Calmodulin-binding.				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	TTAAACTCCAGCTTCCGGGCC	0.587000													7	110					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13410061	13410061	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:13410061C>T	ENST00000360228.5	-	19	2385	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E797K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	797					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGGTCCATTTCGTTATACAGG	0.622000													8	96					0	0	1	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675591	54675591	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:54675591C>T	ENST00000546500.1	+	3	760	c.145C>T	c.(145-147)Cca>Tca	p.P49S	HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P49S|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P49S|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.P49S|RP11-968A15.8_ENST00000553061.1_RNA			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	49	Globular A domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AATGAGAGATCCAAACACCAA	0.438000													3	26					0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81701762	81701762	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:81701762T>C	ENST00000372292.3	-	5	538	c.498A>G	c.(496-498)ggA>ggG	p.G166G		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	166	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CACCTCGCTCTCCCTTAGGGC	0.617000													7	86					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056617	26056617	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:26056617G>A	ENST00000343677.2	-	1	82	c.40C>T	c.(40-42)Cct>Tct	p.P14S		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	14					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TTCTCCGCAGGAGGCGCGGCA	0.622000													10	82					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71946982	71946982	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:71946982C>T	ENST00000298229.2	+	25	3035	c.2831C>T	c.(2830-2832)cCc>cTc	p.P944L	INPPL1_ENST00000538751.1_Missense_Mutation_p.P702L|INPPL1_ENST00000541756.1_Missense_Mutation_p.P702L	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	944	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACGGGGAGGCCCCCAGCCCCA	0.672000													7	40					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169835	113169835	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:113169835G>A	ENST00000401783.2	-	38	8381	c.8045C>T	c.(8044-8046)tCa>tTa	p.S2682L	SVEP1_ENST00000297826.5_Missense_Mutation_p.S608L|SVEP1_ENST00000374469.1_Missense_Mutation_p.S2659L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2682	Sushi 21.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACAGGTGTATGAAACCATGGT	0.453000													40	144					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19032967	19032967	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19032967G>A	ENST00000421369.3	+	4	705	c.147G>A	c.(145-147)ggG>ggA	p.G49G	TMC7_ENST00000304381.5_Silent_p.G159G|TMC7_ENST00000569532.1_Silent_p.G159G	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	159						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTGGCACTGGGATTCAGTCCT	0.418000													9	77					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707364	96707364	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:96707364C>T	ENST00000542454.2	+	3	3706	c.618C>T	c.(616-618)ttC>ttT	p.F206F	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.F206F|BDKRB2_ENST00000306005.3_Silent_p.F233F|BDKRB2_ENST00000554311.1_Silent_p.F233F			P30411	BKRB2_HUMAN	bradykinin receptor B2	233					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TCGTGGGCTTCCTGCTGCCCC	0.542000													6	19					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238277457	238277457	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:238277457C>T	ENST00000295550.4	-	10	5101	c.4649G>A	c.(4648-4650)gGa>gAa	p.G1550E	COL6A3_ENST00000472056.1_Missense_Mutation_p.G943E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1344E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1349E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1344E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1350E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1550	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.G1550E(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGGATTTTCCACCCAGGAC	0.562000													7	94					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8784066	8784066	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:8784066C>T	ENST00000447110.1	-	19	2657	c.2533G>A	c.(2533-2535)Gac>Aac	p.D845N	PIK3R5_ENST00000581552.1_Missense_Mutation_p.D845N|PIK3R5_ENST00000584803.1_Missense_Mutation_p.D844N	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	845					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GAGGAGAGGTCGCTCTTCTCT	0.637000													6	35					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371380	48371380	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:48371380C>T	ENST00000395702.2	+	2	1075	c.848C>T	c.(847-849)tCc>tTc	p.S283F	ZNF488_ENST00000586537.1_Missense_Mutation_p.S176F|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TGCAACCTGTCCTTTCGCCTA	0.597000													9	53					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167544	140167544	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140167544G>A	ENST00000504120.2	+	1	1669	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.D557N	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCGTGCTGGACGAGAACGA	0.672000													11	114					0	0	1	0	0
RAB40C	57799	broad.mit.edu	37	16	677618	677618	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:677618C>T	ENST00000535977.1	+	7	1064	c.842C>T	c.(841-843)tCc>tTc	p.S281F	RAB40C_ENST00000538492.1_Missense_Mutation_p.S281F|RAB40C_ENST00000248139.3_Missense_Mutation_p.S281F|RAB40C_ENST00000539661.1_Missense_Mutation_p.S281F	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	281					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TGCAAGATCTCCTAGCGGGGA	0.677000													8	59					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50473386	50473386	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:50473386C>T	ENST00000602139.1	+	0	387									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						GTACTTCTTTCGGGTGGAGAG	0.552000													3	43					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29404629	29404629	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:29404629G>A	ENST00000320081.5	+	16	2243	c.1988G>A	c.(1987-1989)gGa>gAa	p.G663E	CLIP4_ENST00000404424.1_Missense_Mutation_p.G663E|CLIP4_ENST00000401617.2_Intron	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	663	CAP-Gly 3.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AGCGCCAAGGGAAAAAATGAT	0.512000													9	89					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185837	127185837	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:127185837C>T	ENST00000371124.3	-	1	545	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	117						cytoplasm|cytoskeleton		p.E117K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCTCGAATTTCCCTAGGATTC	0.488000													59	162					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17814265	17814265	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:17814265C>T	ENST00000325083.8	+	11	2064	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	PCM1_ENST00000519253.1_Missense_Mutation_p.S542F|PCM1_ENST00000524226.1_Missense_Mutation_p.S542F	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	542					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CATGAAAATTCCGAGCCTGTT	0.358000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								3	11					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34204900	34204900	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34204900G>A	ENST00000373381.4	-	15	2385	c.2209C>T	c.(2209-2211)Cca>Tca	p.P737S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	697	Sushi 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCATTTACTGGAACGCCAGGA	0.527000													17	82					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49414910	49414910	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:49414910C>T	ENST00000374201.3	-	14	1980	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	FRMPD2_ENST00000407470.4_Missense_Mutation_p.E528K|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E535K	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	560	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATCTCCTCTTCTGGCCTCCTC	0.483000													4	51					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230253056	230253056	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:230253056C>T	ENST00000341772.4	-	11	1914	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	594	EGF-like 10; calcium-binding (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AGGCAGCTCCCACCATGGTGG	0.522000													10	143					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60912735	60912735	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:60912735C>T	ENST00000252999.3	-	16	2141	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	692	Laminin EGF-like 8.				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)	CTGCCCACTCCGGGGGTCACA	0.662000													5	58					0	0	1	0	0
NUP54	53371	broad.mit.edu	37	4	77057356	77057356	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:77057356G>A	ENST00000264883.3	-	4	645	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	NUP54_ENST00000514987.1_Missense_Mutation_p.P121S|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000458189.2_Intron	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	169	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CGGCAAAAGGGATTTTCTTGT	0.308000													17	55					0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226055597	226055597	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:226055597C>T	ENST00000366835.3	-	7	775	c.505G>A	c.(505-507)Gac>Aac	p.D169N		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	169						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)					CCCAGCAAGTCCCCTGAGAGG	0.552000													6	38					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74477501	74477501	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:74477501C>T	ENST00000394019.2	-	17	2019	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E	SLC4A5_ENST00000423644.1_Missense_Mutation_p.G541E|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G541E|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G477E|SLC4A5_ENST00000358683.4_Missense_Mutation_p.G477E|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G541E|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G541E|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G541E	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	541						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCCCAGAAGCCCACCAAAGGT	0.537000											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	80					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390392	197390392	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:197390392C>T	ENST00000367400.3	+	6	1569	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	CRB1_ENST00000535699.1_Silent_p.S409S|CRB1_ENST00000538660.1_Silent_p.S478S|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.S366S|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Silent_p.S177S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	478	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACACCGGGTCCCTGTGTGAAA	0.502000													13	28					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887225	3887225	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:3887225C>T	ENST00000319331.3	+	2	1661	c.900C>T	c.(898-900)ctC>ctT	p.L300L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	300						integral to membrane		p.L300L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGGGCGAGCTCGTTTCTGTCG	0.453000													12	45					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111541186	111541186	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:111541186C>T	ENST00000261486.5	-	14	1470	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K	EPB41L4A_ENST00000507810.1_5'UTR|CTC-459M5.2_ENST00000505825.1_RNA|CTC-459M5.2_ENST00000506875.1_RNA	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	398						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TATTTTCATTCTTTGCTTTCT	0.303000													30	278					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119466136	119466136	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:119466136G>A	ENST00000369429.3	-	5	793	c.784C>T	c.(784-786)Cct>Tct	p.P262S	TBX15_ENST00000207157.3_Missense_Mutation_p.P156S			Q96SF7	TBX15_HUMAN	T-box 15	262						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCCCCAACAGGAACAGGCTTA	0.473000													8	50					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57257766	57257766	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:57257766C>T	ENST00000343433.6	-	2	800	c.720G>A	c.(718-720)caG>caA	p.Q240Q	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	240										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CATAGATGGGCTGGCAGGGGC	0.507000													4	141					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33749706	33749706	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:33749706G>A	ENST00000394562.1	-	4	865	c.342C>T	c.(340-342)acC>acT	p.T114T	SLFN12_ENST00000452764.3_Silent_p.T114T|SLFN12_ENST00000304905.5_Silent_p.T114T			Q8IYM2	SLN12_HUMAN	schlafen family member 12	114							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCAGACCAGAGGTGTTCAAGC	0.393000													6	41					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610403	47610403	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:47610403C>T	ENST00000371891.3	+	8	1110	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	CYP4A22_ENST00000371890.3_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.S360F|CYP4A22_ENST00000485117.1_Intron	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	360						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GATGGAGCCTCCATCACCTGG	0.607000													10	38					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133965	57133965	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:57133965C>T	ENST00000328070.6	+	3	1544	c.1310C>T	c.(1309-1311)cCg>cTg	p.P437L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	437						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGCGAGAAGCCGTACAGGTGC	0.652000													10	58					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53208000	53208000	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53208000C>T	ENST00000293774.4	-	1	335	c.65G>A	c.(64-66)aGg>aAg	p.R22K	KRT4_ENST00000551956.1_5'UTR			B4DRS2	B4DRS2_HUMAN	keratin 4	0						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGGCTTGGCCCTTGGCACAAG	0.537000													9	60					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168892	142168892	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142168892C>T	ENST00000454561.2	-	0	153																											GCTTGGTCCTCCTGGGGAAGA	0.587000													3	11					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31617782	31617782	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:31617782A>G	ENST00000409210.1	+	6	812	c.628A>G	c.(628-630)Atc>Gtc	p.I210V	CCDC129_ENST00000407970.3_Missense_Mutation_p.I302V|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.I328V			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	302										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGCAACCTCAATCAACCACAA	0.438000													5	38					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10307677	10307677	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10307677C>T	ENST00000403437.2	-	22	2752	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	886					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGTCATTTTTCTCTTTTAAGA	0.398000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				11	29					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583484	7583484	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:7583484G>A	ENST00000379802.3	+	24	6330	c.5989G>A	c.(5989-5991)Ggg>Agg	p.G1997R	DSP_ENST00000418664.2_Missense_Mutation_p.G1398R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1997	Globular 2.				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)		ACTATTGAAGGGGAAGAAGTC	0.478000													6	58					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834712	61834712	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:61834712G>A	ENST00000280772.1	-	37	6118	c.5927C>T	c.(5926-5928)tCa>tTa	p.S1976L	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)	1976					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						ACTCTTTGGTGATTTGGGTGA	0.398000													7	36					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182322478	182322478	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:182322478C>T	ENST00000397033.2	+	1	527	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	ITGA4_ENST00000339307.4_Missense_Mutation_p.P33S	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	33					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)	GACCGGCCGCCCCTACAACGT	0.697000													4	29					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40837122	40837122	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:40837122C>T	ENST00000264638.4	+	4	694	c.477C>T	c.(475-477)atC>atT	p.I159I	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	159	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCGGCAAGATCGGCCTGAGGC	0.662000													5	52					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26463519	26463519	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:26463519G>A	ENST00000256737.3	+	2	953	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	ANO3_ENST00000525139.1_Missense_Mutation_p.R18Q|ANO3_ENST00000537978.1_Missense_Mutation_p.R18Q|ANO3_ENST00000531646.1_Missense_Mutation_p.R34Q	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	34						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AAACCGTCTCGGAGATCCCTG	0.438000													30	127					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36582358	36582358	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:36582358C>T	ENST00000401500.2	+	18	2236	c.2201C>T	c.(2200-2202)tCt>tTt	p.S734F	WDR62_ENST00000270301.7_Missense_Mutation_p.S734F	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	734					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATCACAGTATCTGGAGACAGG	0.493000													6	49					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112655	248112655	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248112655C>T	ENST00000357191.3	+	1	496	c.496C>T	c.(496-498)Cct>Tct	p.P166S	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACTCCATATTCCTTATTGCCG	0.483000													14	72					0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9079356	9079356	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:9079356G>A	ENST00000400906.1	-	4	347	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	116						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGGCGGGGATGATGGCAAAGA	0.597000													11	41					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767784	181767784	+	Silent	SNP	C	C	T	rs35105143		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:181767784C>T	ENST00000526775.1	+	46	6735	c.6570C>T	c.(6568-6570)ttC>ttT	p.F2190F	CACNA1E_ENST00000367567.4_Silent_p.F1816F|CACNA1E_ENST00000357570.5_Silent_p.F2203F|CACNA1E_ENST00000358338.5_Silent_p.F2141F|CACNA1E_ENST00000367573.2_Silent_p.F2252F|CACNA1E_ENST00000360108.3_Silent_p.F2233F|CACNA1E_ENST00000367570.1_Silent_p.F2209F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2252					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCTCACTTTCGAAGCAGCCG	0.642000													5	22					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81332073	81332073	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:81332073C>T	ENST00000222390.5	-	18	2237	c.2010_splice	c.e18-1	p.G671_splice	HGF_ENST00000457544.2_Splice_Site_p.G666_splice	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	671	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCATAATCCCCCTAGGAGTAA	0.363000													6	57					0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23508151	23508151	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:23508151T>C	ENST00000258729.3	-	2	542	c.186A>G	c.(184-186)gaA>gaG	p.E62E	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	62	RRM 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TCCCGTGCAGTTCTATTTTAC	0.557000													35	146					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26462937	26462937	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:26462937G>A	ENST00000265944.5	+	30	3910	c.3744G>A	c.(3742-3744)agG>agA	p.R1248R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1248					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						CAGAGGAGAGGAATTGTGAAG	0.433000													17	70					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86817410	86817410	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:86817410T>C	ENST00000414194.2	+	13	2198	c.406T>C	c.(406-408)Tta>Cta	p.L136L	DMTF1_ENST00000331242.7_Silent_p.L402L|DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000432937.2_Silent_p.L314L|DMTF1_ENST00000394703.5_Silent_p.L402L			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	402	Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CCCTTCAGTCTTAATAAAAGG	0.413000													6	44					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175897	140175897	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140175897G>A	ENST00000526136.1	+	1	1348	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.D450N|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D450N	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)			CGACGTGAACGACAACGCGCC	0.642000													10	65					0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115624496	115624496	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:115624496G>A	ENST00000484212.1	-	4	444	c.270C>T	c.(268-270)ttC>ttT	p.F90F	TFEC_ENST00000320239.7_5'UTR|TFEC_ENST00000393485.1_5'UTR|TFEC_ENST00000265440.7_5'UTR			O14948	TFEC_HUMAN	transcription factor EC	0	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CAAGGGTCATGAAAGAGTTTA	0.453000													7	83					0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97327486	97327486	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:97327486G>A	ENST00000328504.3	+	2	460	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	SPATA8_ENST00000558553.1_Missense_Mutation_p.G24E	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	65										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GCCTGCAAAGGAAGGTAAGTA	0.577000													6	41					0	0	1	0	0
CDK3	1018	broad.mit.edu	37	17	73999426	73999426	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:73999426G>A	ENST00000425876.2	+	6	827	c.739G>A	c.(739-741)Gga>Aga	p.G247R	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.G247R			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	247	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						GACCAGGAAGGGACTGGAAGA	0.587000													10	80					0	0	1	0	0
SNX29P2	440352	broad.mit.edu	37	16	29376022	29376022	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:29376022G>A	ENST00000398878.3	+	0	1450				SNX29P2_ENST00000507381.1_RNA																							ATGCAAAAAGGAGCGGAAGAA	0.368000													3	39					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221693	5221693	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5221693G>A	ENST00000321255.1	-	1	237	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCATGCACAGGTCAGTGAGG	0.527000													9	53					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179586793	179586793	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179586793C>T	ENST00000589042.1	-	78	22821	c.22597G>A	c.(22597-22599)Gat>Aat	p.D7533N	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D7216N|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D6289N|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7216	Ig-like 57.						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)			CACTCAAAATCAGCACTTTCT	0.413000													12	144					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64526861	64526861	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:64526861C>T	ENST00000498707.1	-	36	5773	c.5431G>A	c.(5431-5433)Gat>Aat	p.D1811N	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D1783N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1811	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGCAGTCATCGCGCCGGCTC	0.458000													11	74					0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112229944	112229944	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:112229944A>G	ENST00000261733.2	+	8	936	c.875A>G	c.(874-876)aAc>aGc	p.N292S	ALDH2_ENST00000416293.3_Missense_Mutation_p.N245S	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	292					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	AAGAGCCCCAACATCATCATG	0.582000			T	HMGA2	leiomyoma								6	52					0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68055847	68055847	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:68055847C>T	ENST00000478136.1	+	2	568	c.78C>T	c.(76-78)tcC>tcT	p.S26S	FAM19A1_ENST00000496687.1_Silent_p.S26S	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	26						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GCCATGGATCCCTTCAGCACA	0.502000													9	88					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61341149	61341149	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:61341149C>T	ENST00000370501.3	+	1	961	c.590C>T	c.(589-591)gCc>gTc	p.A197V		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	197						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CTCGCCTCGGCCCTGCTGGCG	0.667000													9	59					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427891	119427891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:119427891G>A	ENST00000369429.3	-	8	1282	c.1273C>T	c.(1273-1275)Cag>Tag	p.Q425*	TBX15_ENST00000207157.3_Nonsense_Mutation_p.Q319*			Q96SF7	TBX15_HUMAN	T-box 15	425						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GTGCCACTCTGAAGCCTGTTG	0.542000													13	51					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45285708	45285708	+	Missense_Mutation	SNP	G	G	A	rs148127553		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:45285708G>A	ENST00000270279.3	+	4	802	c.739G>A	c.(739-741)Gtc>Atc	p.V247I	CBLC_ENST00000341505.4_Missense_Mutation_p.V247I	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	247	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CTATGATGAGGTCCAAGAGCG	0.622000			M		AML								17	88					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813831	106813831	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:106813831C>T	ENST00000407775.2	+	8	1771	c.1521C>T	c.(1519-1521)atC>atT	p.I507I	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.I375I|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.I375I|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.I238I	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	507					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCAAGATATCACCATGGTCC	0.502000													19	142					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130287386	130287386	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:130287386G>A	ENST00000373312.3	-	4	585	c.372C>T	c.(370-372)atC>atT	p.I124I	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Silent_p.I111I	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	124	PH.						protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CGGACGTGAGGATTTTGTAGC	0.592000													13	56					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3084744	3084744	+	Silent	SNP	G	G	A	rs112921386	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:3084744G>A	ENST00000397461.1	+	21	2979	c.2595G>A	c.(2593-2595)acG>acA	p.T865T	CNTN4_ENST00000358480.3_Silent_p.T646T|CNTN4_ENST00000427331.1_Silent_p.T865T|CNTN4_ENST00000418658.1_Silent_p.T865T|CNTN4_ENST00000448906.2_Silent_p.T537T|CNTN4_ENST00000397459.2_Silent_p.T537T|CNTN4-AS1_ENST00000442749.2_RNA	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	865	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAAAAATCACGAACTTAAAAG	0.393000													5	28					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121483	50121483	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:50121483G>A	ENST00000374160.3	-	1	794	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Silent_p.L240L	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	240						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GGTGAGATCAGATTGGGAAAG	0.537000													17	74					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214825138	214825138	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:214825138G>A	ENST00000366955.3	+	15	8237	c.8069G>A	c.(8068-8070)gGg>gAg	p.G2690E	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2786	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAAAGGAAGGGAAAGTGAGA	0.398000													7	44					0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72469862	72469862	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:72469862C>T	ENST00000360141.3	+	2	516	c.228C>T	c.(226-228)tcC>tcT	p.S76S	CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	76	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GCCGAGTGTCCATCAGGGACA	0.532000													14	70					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25150135	25150135	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:25150135C>T	ENST00000332271.5	-	8	1239	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	PIWIL3_ENST00000533313.1_Missense_Mutation_p.E166K|PIWIL3_ENST00000527701.1_Missense_Mutation_p.E166K|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	275					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATGCTGTTTTCGTATTGAAGA	0.413000													7	62					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047521	73047521	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73047521G>A	ENST00000604411.1	+	0	35482				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCAGAGAAAGGAGAGGTAGAC	0.418000													3	8					0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11191366	11191366	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:11191366G>A	ENST00000379446.5	-	5	902	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	NEDD9_ENST00000504387.1_Missense_Mutation_p.P246S|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	246					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGTCTCATGGGAGGGGGGAAG	0.527000													11	50					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54792448	54792448	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:54792448G>A	ENST00000293379.4	-	28	3137	c.2876C>T	c.(2875-2877)gCt>gTt	p.A959V	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	959					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.A959V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TTTGTACACAGCCTCACACTG	0.567000													7	26					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31091409	31091409	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:31091409G>A	ENST00000332585.6	+	1	617	c.513G>A	c.(511-513)acG>acA	p.T171T	OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000382310.3_Silent_p.T171T|OSBP2_ENST00000446658.2_Silent_p.T171T	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	171					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGACTGGCACGACCTCCAGTG	0.617000													13	43					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21252853	21252853	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21252853G>A	ENST00000233242.1	-	11	1514	c.1387C>T	c.(1387-1389)Ctg>Ttg	p.L463L	APOB_ENST00000399256.4_Silent_p.L463L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	463	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGTCCAGCAGCTCCTGGGTC	0.428000													7	88					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34874019	34874019	+	Missense_Mutation	SNP	G	G	A	rs116249859	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:34874019G>A	ENST00000360581.1	+	6	832	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	NPSR1_ENST00000381542.1_Missense_Mutation_p.R169Q|NPSR1_ENST00000359791.1_Missense_Mutation_p.R235Q|NPSR1_ENST00000531252.1_Missense_Mutation_p.R224Q|NPSR1_ENST00000381539.3_Missense_Mutation_p.R235Q	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	235						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.R235Q(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ATTGTGATCCGAACTATTTGG	0.438000													6	64					0	0	1	0	0
NOG	9241	broad.mit.edu	37	17	54671848	54671848	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:54671848C>T	ENST00000332822.4	+	1	789	c.264C>T	c.(262-264)ccC>ccT	p.P88P		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	88					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					AGGAccggcccggcgggggcg	0.726000													4	21					0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40699896	40699896	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:40699896C>T	ENST00000249760.2	+	2	547	c.204C>T	c.(202-204)atC>atT	p.I68I	IVD_ENST00000479013.2_Intron|IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Silent_p.I71I	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	68					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CCCAGGAGATCGATCGCAGCA	0.582000													10	75					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	2945772	2945772	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:2945772C>T	ENST00000216877.6	+	5	739	c.339C>T	c.(337-339)ttC>ttT	p.F113F	PTPRA_ENST00000318266.5_Silent_p.F113F|PTPRA_ENST00000356147.3_Silent_p.F113F|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000399903.2_Silent_p.F113F|PTPRA_ENST00000425918.2_Silent_p.F124F|PTPRA_ENST00000380393.3_Silent_p.F113F	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	113					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATAACCAGTTCACGGATGCCA	0.468000													13	76					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348594	30348594	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:30348594C>T	ENST00000327564.7	+	1	571	c.510C>T	c.(508-510)aaC>aaT	p.N170N	LRRC37B_ENST00000584368.1_Silent_p.N155N|LRRC37B_ENST00000341671.7_Silent_p.N143N|LRRC37B_ENST00000394713.3_Silent_p.N143N|LRRC37B_ENST00000543378.2_Silent_p.N61N			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	143						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GGGATCAGAACCAGGCCCTAG	0.527000													7	76					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438522	25438522	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:25438522C>T	ENST00000424208.1	+	0	1381				SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1																						ACTTAAAAATCATGCTCAATA	0.512000													42	311					0	0	1	0	0
GMEB2	26205	broad.mit.edu	37	20	62223901	62223901	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:62223901G>A	ENST00000266068.1	-	7	1292	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S	GMEB2_ENST00000370077.1_Missense_Mutation_p.P272S|GMEB2_ENST00000370069.1_Missense_Mutation_p.P221S			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	272					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			AGCTGCAGGGGAGGGTCCTGG	0.652000													6	35					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66084440	66084440	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:66084440G>A	ENST00000311330.3	-	1	75	c.59C>T	c.(58-60)cCc>cTc	p.P20L	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	20						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	AGCAGCCCAGGGGTCCTGGCC	0.771000													3	9					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003387	50003387	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:50003387C>T	ENST00000335238.4	-	1	684	c.651G>A	c.(649-651)gtG>gtA	p.V217V		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAAGATGATCACATAGGATA	0.398000													6	46					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206165277	206165277	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:206165277C>T	ENST00000406610.2	+	17	2416	c.2209C>T	c.(2209-2211)Cca>Tca	p.P737S	PARD3B_ENST00000462231.1_Missense_Mutation_p.P737S|PARD3B_ENST00000358768.2_Missense_Mutation_p.P675S|PARD3B_ENST00000349953.3_Missense_Mutation_p.P737S|PARD3B_ENST00000351153.1_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	737					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGATTTTGGTCCAACTCTGGG	0.488000													11	101					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	7866502	7866502	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:7866502C>T	ENST00000344293.5	+	2	594	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	130					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTACCTGCCACCCATTGTGTC	0.368000													12	65					0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79118200	79118200	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:79118200G>A	ENST00000442371.1	+	3	1842	c.903G>A	c.(901-903)caG>caA	p.Q301Q	GCNT1_ENST00000536223.1_Silent_p.Q301Q|GCNT1_ENST00000376730.4_Silent_p.Q301Q|GCNT1_ENST00000444201.2_Silent_p.Q301Q	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	301	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						ATGTACTACAGAATGAAAAAA	0.488000													10	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604841	179604841	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179604841C>T	ENST00000589042.1	-	48	13343	c.13119G>A	c.(13117-13119)caG>caA	p.Q4373Q	TTN_ENST00000460472.2_Silent_p.Q4010Q|TTN_ENST00000359218.5_Silent_p.Q4135Q|TTN_ENST00000591111.1_Silent_p.Q4056Q|TTN_ENST00000342175.6_Silent_p.Q4202Q|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4056	Ig-like 23.						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)			GGTCCCTTCCCTGTACCTCCT	0.468000													8	46					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941503	52941503	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:52941503C>T	ENST00000332323.6	+	4	890	c.829C>T	c.(829-831)Cat>Tat	p.H277Y	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.H264Y|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TCAGAAAATTCATACTGGACA	0.388000													8	31					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898892	175898892	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:175898892C>T	ENST00000359240.3	+	5	2886	c.2216C>T	c.(2215-2217)tCc>tTc	p.S739F	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.S739F|ADAM29_ENST00000445694.1_Missense_Mutation_p.S739F|ADAM29_ENST00000404450.4_Missense_Mutation_p.S739F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	739	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTGATGCCTTCCCAGAGTCAA	0.527000													10	80					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891609	18891609	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:18891609G>A	ENST00000317658.3	+	1	565	c.407G>A	c.(406-408)gGa>gAa	p.G136E		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	136					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.G136A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TATCCAAAAGGAAATTGCAAC	0.403000													5	45					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171076824	171076824	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:171076824A>G	ENST00000367755.4	+	4	441	c.330A>G	c.(328-330)gtA>gtG	p.V110V	FMO3_ENST00000538429.1_Silent_p.V47V|FMO3_ENST00000542847.1_Silent_p.V90V|FMO3_ENST00000392085.2_Silent_p.V110V	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	110					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGACATTTGTATCCAGTGTAA	0.363000													3	29					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55119209	55119209	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:55119209C>T	ENST00000414150.2	+	3	888	c.610C>T	c.(610-612)Cca>Tca	p.P204S	MROH7_ENST00000339553.5_Missense_Mutation_p.P204S|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.P204S|MROH7_ENST00000421030.2_Missense_Mutation_p.P204S|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000454855.2_Intron					maestro heat-like repeat family member 7																		ACTCCTTATTCCAACCTCAAA	0.463000													22	64					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63059015	63059015	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:63059015G>A	ENST00000332793.6	+	2	408	c.406G>A	c.(406-408)Gac>Aac	p.D136N	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.D84N|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	136						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTCCAGTGGGACCTGGTATG	0.463000													6	59					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126068435	126068435	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:126068435G>A	ENST00000299308.3	+	5	1325	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	439						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)		TCACTGGAAAGCCTGTTTCAG	0.527000													24	231					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40337918	40337918	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:40337918C>T	ENST00000310169.2	+	2	278	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	47					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TAATGCTCTTCGTCCAGTGGA	0.423000													13	59					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42310424	42310424	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:42310424G>A	ENST00000217026.4	+	3	242	c.114_splice	c.e3-1	p.D39_splice	MYBL2_ENST00000396863.4_Intron	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	39	HTH myb-type 1.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTGTTGGCAGGACGAGCAGCT	0.582000													4	65					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10933880	10933880	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:10933880G>A	ENST00000298232.7	-	16	1312	c.945C>T	c.(943-945)atC>atT	p.I315I	TPTE_ENST00000342420.5_Silent_p.I295I|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.I333I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	333	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I333I(1)|p.I315I(1)		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)		GAATCGCTACGATGTTTTCAA	0.313000													14	191					0	0	1	0	0
NUCB1	4924	broad.mit.edu	37	19	49425616	49425616	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49425616G>A	ENST00000405315.4	+	13	1655	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	NUCB1_ENST00000263273.5_Missense_Mutation_p.V441M|NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000407032.1_Missense_Mutation_p.V441M	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	441						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CCAGAAGGAGGTGGACACTTC	0.602000													11	134					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087601	9087601	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9087601G>A	ENST00000397910.4	-	1	4417	c.4214C>T	c.(4213-4215)tCa>tTa	p.S1405L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1405	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						AAATCCAGATGATTTTTCTGC	0.458000													15	92					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47809029	47809029	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:47809029G>A	ENST00000273857.4	-	2	98	c.99C>T	c.(97-99)ggC>ggT	p.G33G	CORIN_ENST00000505909.1_Silent_p.G33G|CORIN_ENST00000504584.1_Silent_p.G33G|CORIN_ENST00000502252.1_Silent_p.G33G	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	33					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCTGAGAGCAGCCATTGCCCA	0.433000													3	12					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9538848	9538848	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:9538848G>A	ENST00000352665.5	+	11	1516	c.1447G>A	c.(1447-1449)Ggg>Agg	p.G483R	WDR16_ENST00000396219.3_Missense_Mutation_p.G415R|WDR16_ENST00000299764.5_Missense_Mutation_p.G493R|WDR16_ENST00000576714.1_3'UTR	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	483						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGCACCGATGGGACTTGTAT	0.502000													9	42					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113293492	113293492	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:113293492G>A	ENST00000297405.5	-	59	9663	c.9419C>T	c.(9418-9420)tCc>tTc	p.S3140F	CSMD3_ENST00000352409.3_Missense_Mutation_p.S3070F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3100F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2971F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3140	Sushi 23.					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						CTCCATGCAGGAATAAATGAC	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	38					0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21476499	21476499	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:21476499T>C	ENST00000356929.3	-	4	1466	c.1269A>G	c.(1267-1269)gaA>gaG	p.E423E		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TACCACATTCTTCACATTTGT	0.338000													7	26					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919969	48919969	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:48919969C>T	ENST00000310194.1	+	1	555	c.555C>T	c.(553-555)ctC>ctT	p.L185L	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CATCCCTCCTCCCTCTGTCCT	0.488000													10	56					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918217	51918217	+	Silent	SNP	G	G	A	rs141026130		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51918217G>A	ENST00000356298.5	-	8	1592	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000353836.5_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000439889.2_Silent_p.F434F|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000339313.5_Silent_p.F492F	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	492					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGGTGACCTCGAAGGAGTCCT	0.701000													8	51					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58253007	58253007	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:58253007G>A	ENST00000249750.4	-	12	2212	c.1445C>T	c.(1444-1446)cCc>cTc	p.P482L	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.P461L|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.P444L|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.P386L|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.P453L	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	482					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)	TCCCCCAAAGGGGCTCTGGGC	0.428000													9	58					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71843061	71843061	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:71843061C>T	ENST00000373545.3	-	18	2296	c.1858G>A	c.(1858-1860)Gac>Aac	p.D620N	PHKA1_ENST00000373539.3_Missense_Mutation_p.D620N|PHKA1_ENST00000373542.4_Missense_Mutation_p.D620N|PHKA1_ENST00000541944.1_Missense_Mutation_p.D620N|PHKA1_ENST00000339490.3_Missense_Mutation_p.D620N			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	620					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGTCCAGGGTCCATGAAGCTC	0.393000													6	26					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196928109	196928109	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:196928109G>A	ENST00000367415.4	+	5	826	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.E238K	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	238	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TGACATAGTTGAATTTGTTTG	0.308000													6	32					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38893924	38893924	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:38893924A>T	ENST00000359357.3	+	72	10659	c.10405A>T	c.(10405-10407)Ata>Tta	p.I3469L	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.I3433L|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.I3686L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCCACTCCTCATAGACCCACA	0.413000													13	115					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738706	138738706	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:138738706C>T	ENST00000329447.5	-	1	1062	c.798G>A	c.(796-798)taG>taA	p.*266*	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	0										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGTGGGGGTCTATGCCTGGA	0.632000													5	51					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139642981	139642981	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:139642981C>T	ENST00000303045.6	-	50	4066	c.3620G>A	c.(3619-3621)gGa>gAa	p.G1207E	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1187E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1207	Collagen-like 11.|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)			TCCTGCAATTCCATCTGCCCC	0.448000										HNSCC(7;0.00092)			22	110					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41566373	41566373	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:41566373G>A	ENST00000396942.1	-	17	2004	c.1921C>T	c.(1921-1923)Ctg>Ttg	p.L641L	ANK1_ENST00000289734.7_Silent_p.L641L|ANK1_ENST00000352337.4_Silent_p.L641L|ANK1_ENST00000379758.2_Silent_p.L641L|ANK1_ENST00000265709.8_Silent_p.L674L|ANK1_ENST00000347528.4_Silent_p.L641L|ANK1_ENST00000396945.1_Silent_p.L641L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	641	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGGCGGCCAGGTGAAGGGGC	0.617000													18	92					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43351592	43351592	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:43351592C>T	ENST00000395891.1	+	4	863	c.258C>T	c.(256-258)tcC>tcT	p.S86S	HECW1_ENST00000453890.1_Silent_p.S86S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	86					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						TCAGCAGCTCCTACTATTCCA	0.607000													4	67					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401661	140401661	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:140401661C>T	ENST00000286349.3	+	2	890	c.699C>T	c.(697-699)tcC>tcT	p.S233S		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	233						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACCGCTCCTCCGGGCCCATCC	0.622000													4	95					0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158636952	158636952	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:158636952C>T	ENST00000263640.3	-	4	657	c.228G>A	c.(226-228)caG>caA	p.Q76Q	ACVR1_ENST00000434821.1_Silent_p.Q76Q|ACVR1_ENST00000409283.2_Silent_p.Q76Q|ACVR1_ENST00000410057.2_Silent_p.Q76Q|ACVR1_ENST00000487456.1_5'UTR	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	76					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TCATCTTTCCCTGCTCATAAA	0.567000													10	87					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7985359	7985359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:7985359G>A	ENST00000543909.1	-	8	898	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	SLC2A14_ENST00000396589.2_Nonsense_Mutation_p.Q47*|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000539924.1_Nonsense_Mutation_p.Q62*|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000431042.2_Nonsense_Mutation_p.Q24*|SLC2A14_ENST00000340749.5_Nonsense_Mutation_p.Q24*			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	47					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TAGCCAAACTGGAAAGAGCCG	0.468000											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	65					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64606080	64606080	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:64606080G>A	ENST00000371079.1	+	6	1274	c.899G>A	c.(898-900)gGa>gAa	p.G300E	ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.G300E|RP11-24J23.2_ENST00000424995.1_RNA	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	300					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATCCGGATTGGAATTCCCATG	0.493000													21	53					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952147	141952147	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141952147C>T	ENST00000552471.1	-	5	939	c.620G>A	c.(619-621)gGa>gAa	p.G207E	PRSS58_ENST00000547058.2_Missense_Mutation_p.G207E			Q8IYP2	PRS58_HUMAN	protease, serine, 58	207	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGACAGGATTCCTTGAAGCAT	0.398000													11	24					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477449	110477449	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110477449G>A	ENST00000378402.5	+	49	8492	c.8388G>A	c.(8386-8388)atG>atA	p.M2796I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2796					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAATGGTAATGATTGATGTTG	0.373000										HNSCC(38;0.096)			9	40					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72301378	72301378	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:72301378G>A	ENST00000579490.1	+	8	1314	c.1179G>A	c.(1177-1179)ggG>ggA	p.G393G	DNAI2_ENST00000307504.5_Silent_p.G193G|DNAI2_ENST00000446837.2_Silent_p.G336G|DNAI2_ENST00000311014.6_Silent_p.G336G|DNAI2_ENST00000582036.1_Silent_p.G336G			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	336					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCATGGTGGGGACCGAGCAGG	0.582000									Kartagener syndrome				6	47					0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40703759	40703759	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:40703759C>T	ENST00000249760.2	+	6	899	c.556C>T	c.(556-558)Cac>Tac	p.H186Y	IVD_ENST00000479013.2_Missense_Mutation_p.H159Y|IVD_ENST00000487418.2_Missense_Mutation_p.H189Y	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	186					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CTTAGGAAATCACTACATCCT	0.507000													9	45					0	0	1	0	0
NOG	9241	broad.mit.edu	37	17	54671847	54671847	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:54671847C>A	ENST00000332822.4	+	1	788	c.263C>A	c.(262-264)cCc>cAc	p.P88H		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	88					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					GAGGAccggcccggcgggggc	0.726000													4	21					0.150653	0.150812	1	1	0
AVIL	10677	broad.mit.edu	37	12	58204901	58204901	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:58204901C>T	ENST00000537081.1	-	4	326	c.327G>A	c.(325-327)caG>caA	p.Q109Q	AVIL_ENST00000257861.3_Silent_p.Q116Q			O75366	AVIL_HUMAN	advillin	116	Core (By similarity).|Polyphosphoinositide binding (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CGACACCCCCCTGCTTGTAGC	0.517000													8	101					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123787621	123787621	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:123787621C>T	ENST00000422452.2	-	7	1244	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E	TENM1_ENST00000371130.3_Missense_Mutation_p.G394E	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TATCGCCCGTCCCTTCTGAAA	0.388000													22	51					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585410	70585410	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:70585410G>A	ENST00000260126.3	-	10	2947	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Silent_p.F692F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	747						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAAACCCAACGAATTTGAGGC	0.488000													6	111					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785516	12785516	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:12785516C>T	ENST00000332530.3	+	3	622	c.396C>T	c.(394-396)ttC>ttT	p.F132F	AADACL3_ENST00000359318.5_Silent_p.F202F	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	202							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGGATTTCAGCTCCTCCT	0.468000													39	160					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629440	9629440	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:9629440G>A	ENST00000382492.2	-	1	1023	c.705C>T	c.(703-705)atC>atT	p.I235I	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	235					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGAAGTAGAGGATCAGGAAGG	0.488000													6	62					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165986573	165986573	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:165986573G>A	ENST00000360093.3	-	17	3290	c.2799C>T	c.(2797-2799)ttC>ttT	p.F933F	SCN3A_ENST00000283254.7_Silent_p.F933F|SCN3A_ENST00000409101.3_Silent_p.F884F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	933						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)	ACACAATCAGGAAGGAGTGGA	0.498000													26	125					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157031535	157031535	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:157031535G>A	ENST00000362010.2	-	11	2192	c.1885C>T	c.(1885-1887)Cct>Tct	p.P629S	RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392833.2_Intron|RP11-550I24.2_ENST00000494885.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.P629S|VEPH1_ENST00000543418.1_Intron	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	629						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGGGGTTCAGGAAACAGGCTC	0.453000													4	60					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389879	77389879	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:77389879G>A	ENST00000282849.5	-	9	1836	c.1418C>T	c.(1417-1419)tCa>tTa	p.S473L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	473	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S473L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGAAGACCATGAAAACACTCC	0.473000													12	68					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184043641	184043641	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:184043641C>T	ENST00000342981.4	+	20	3541	c.3127C>T	c.(3127-3129)Cgt>Tgt	p.R1043C	EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1003C|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R955C|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R1042C|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R847C|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1049C|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1002C|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R846C|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R878C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1049C|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R956C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1049C|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R879C|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1042C	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1042	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTGTCAGGCCGTGGACTTCC	0.547000													41	190					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15661699	15661699	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:15661699C>T	ENST00000281171.4	+	7	1792	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*	PTPRO_ENST00000543886.1_Nonsense_Mutation_p.Q488*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.Q488*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	488	Fibronectin type-III 5.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GTACTGCACTCAGGTAAAGGA	0.512000													4	28					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11593518	11593518	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:11593518C>T	ENST00000262442.3	+	20	4447	c.4379C>T	c.(4378-4380)cCc>cTc	p.P1460L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P1460L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1460	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		ACCAATGTCCCCCTCCTGTGC	0.498000													7	55					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97956801	97956801	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:97956801G>A	ENST00000224337.5	-	16	1255	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W	BLNK_ENST00000427367.2_Intron|BLNK_ENST00000371176.2_Missense_Mutation_p.R349W|BLNK_ENST00000413476.2_Intron	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	372	SH2.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GAGCTTTTCCGAATAAGAAAT	0.279000													10	41					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6496110	6496110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:6496110G>A	ENST00000264071.2	-	4	771	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Nonsense_Mutation_p.Q134*			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	134					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										TGGGTCAGCTGGAAGCCCTGA	0.642000													11	71					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103155837	103155837	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:103155837G>A	ENST00000424685.2	-	50	8073	c.7914C>T	c.(7912-7914)ttC>ttT	p.F2638F	RELN_ENST00000428762.1_Silent_p.F2638F|RELN_ENST00000343529.5_Silent_p.F2638F			P78509	RELN_HUMAN	reelin	2638					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCACCAGCGGAAGCGAGTGG	0.507000													12	35					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940831	144940831	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:144940831G>A	ENST00000525985.1	-	2	6662	c.6591C>T	c.(6589-6591)ctC>ctT	p.L2197L				P58107	EPIPL_HUMAN	epiplakin 1	2197						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)			CCAGGTCCTGGAGCATTTCCT	0.577000													25	212					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38746198	38746198	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:38746198G>A	ENST00000359357.3	+	12	1600	c.1346G>A	c.(1345-1347)gGg>gAg	p.G449E	DNAH8_ENST00000441566.1_Missense_Mutation_p.G449E|DNAH8_ENST00000449981.2_Missense_Mutation_p.G666E					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGTAGTTTTGGGAAAATCTTA	0.299000													12	85					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25422057	25422057	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:25422057G>A	ENST00000441592.2	+	0	224				SNORD115-4_ENST00000363810.1_RNA																							TTACGCTGAGGCCCAGCCTAG	0.517000													49	278					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431205	179431205	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179431205T>A	ENST00000589042.1	-	326	79878	c.79654A>T	c.(79654-79656)Aaa>Taa	p.K26552*	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.K17487*|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.K17612*|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.K24911*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.K17679*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.K23984*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24911	Fibronectin type-III 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)			TCAGTGAGTTTTGAAATTTCA	0.408000													9	140					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252693	124252693	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:124252693G>A	ENST00000375013.2	-	1	565	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGGAGGAGGGGGAGTATGTCA	0.502000													6	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179444693	179444693	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179444693C>T	ENST00000589042.1	-	318	67545	c.67321G>A	c.(67321-67323)Gaa>Aaa	p.E22441K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E13376K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13501K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E20800K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13568K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19873K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20800	Ig-like 116.						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)			TCACGAGTTTCACCGGGATCA	0.423000													10	83					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980866	40980866	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:40980866C>T	ENST00000373198.3	-	10	1855	c.1620G>A	c.(1618-1620)ggG>ggA	p.G540G	PTPRT_ENST00000373190.1_Silent_p.G540G|PTPRT_ENST00000373193.3_Silent_p.G540G|PTPRT_ENST00000373187.1_Silent_p.G540G|PTPRT_ENST00000373184.1_Silent_p.G540G|PTPRT_ENST00000356100.2_Silent_p.G540G|PTPRT_ENST00000373201.1_Silent_p.G540G	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	540	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)				TGAACACTTTCCCCCTCTGGC	0.527000													13	95					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16740833	16740833	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:16740833C>T	ENST00000381323.3	-	10	952	c.732G>A	c.(730-732)acG>acA	p.T244T	FAM49A_ENST00000355549.2_Silent_p.T244T|FAM49A_ENST00000406434.1_Silent_p.T244T	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	244						intracellular		p.T244T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TCTCTTCACTCGTAAACCTAC	0.493000													18	62					0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47590131	47590131	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:47590131G>A	ENST00000172229.3	+	6	1169	c.1044G>A	c.(1042-1044)gaG>gaA	p.E348E	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Silent_p.E254E	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	348	Death.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					AGGAGGTGGAGAAGCTTCTCA	0.652000													11	102					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117033271	117033271	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:117033271G>A	ENST00000371876.1	-	6	3836	c.1415C>T	c.(1414-1416)aCt>aTt	p.T472I	KLHL13_ENST00000539496.1_Missense_Mutation_p.T526I|KLHL13_ENST00000371882.1_Missense_Mutation_p.T472I|KLHL13_ENST00000545703.1_Missense_Mutation_p.T481I|KLHL13_ENST00000371878.1_Missense_Mutation_p.T472I|KLHL13_ENST00000541812.1_Missense_Mutation_p.T507I|KLHL13_ENST00000262820.3_Missense_Mutation_p.T523I|KLHL13_ENST00000540167.1_Missense_Mutation_p.T507I|KLHL13_ENST00000469946.1_Missense_Mutation_p.T472I			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	523					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACCTCTGACAGTGGTCATTGG	0.438000													57	173					0	0	1	0	0
PEX6	5190	broad.mit.edu	37	6	42936680	42936680	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:42936680G>A	ENST00000304611.8	-	6	1480	c.1411C>T	c.(1411-1413)Ccc>Tcc	p.P471S	PEX6_ENST00000244546.4_Missense_Mutation_p.P471S	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	471					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CAGCCTGGGGGGCCCCGTAGA	0.557000													9	105					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95606905	95606905	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:95606905T>G	ENST00000324972.6	+	7	816	c.623T>G	c.(622-624)gTg>gGg	p.V208G	DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V171G|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V188G|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V191G|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V171G|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V191G	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	208					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AAACAGGAAGTGAAGGAAGGT	0.328000													3	34					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30046450	30046450	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:30046450G>A	ENST00000331968.5	-	18	2962	c.2733C>T	c.(2731-2733)atC>atT	p.I911I	PRKD1_ENST00000415220.2_Silent_p.I919I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	911					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GAACTCAGAGGATGCTGACAC	0.443000													5	45					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58772997	58772997	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:58772997C>T	ENST00000269829.4	+	7	1499	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F	ZNF544_ENST00000600220.1_Missense_Mutation_p.S314F|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.S314F|ZNF544_ENST00000599953.1_Missense_Mutation_p.S200F|ZNF544_ENST00000596652.1_Missense_Mutation_p.S342F|ZNF544_ENST00000415203.2_Missense_Mutation_p.S314F|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599227.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	342					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)		TCATCTTTTTCTGACTGTAAC	0.473000													6	56					0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104160214	104160214	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:104160214G>A	ENST00000414303.2	+	1	216	c.152G>A	c.(151-153)gGa>gAa	p.G51E		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	51					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GCTCCGAAGGGATTTGGAGGG	0.423000													44	370					0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5603668	5603668	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:5603668G>A	ENST00000423158.3	+	2	539	c.327G>A	c.(325-327)caG>caA	p.Q109Q	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Silent_p.Q96Q	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	96					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TGCGACAACAGAGACGCTACA	0.647000													6	63					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89895099	89895099	+	Silent	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:89895099C>A	ENST00000435811.1	-	6	1129	c.675G>T	c.(673-675)cgG>cgT	p.R225R	GABRR1_ENST00000369451.3_Silent_p.R155R|GABRR1_ENST00000454853.2_Silent_p.R242R	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	242					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGAGTGAGATCCGTTCATCTG	0.488000													12	90					5.16669e-11	5.22917e-11	1	1	0
CROCCP2	84809	broad.mit.edu	37	1	16959698	16959698	+	RNA	SNP	G	G	A	rs9730434	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16959698G>A	ENST00000412962.1	-	0	74																		p.H56H(4)									GGTCCTTCTCGTGGAGCACCT	0.657000													8	35					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128841	152128841	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152128841C>T	ENST00000316073.3	-	3	798	c.734G>A	c.(733-735)aGa>aAa	p.R245K		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	245	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						TTGTGTATGTCTTTCAGACTG	0.423000													23	185					0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46518165	46518165	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:46518165G>A	ENST00000275016.2	-	12	1551	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	450					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CCCACCAAATGGAGATAACTC	0.413000													4	39					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52952597	52952597	+	Missense_Mutation	SNP	G	G	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:52952597G>C	ENST00000349258.4	-	4	1893	c.1349C>G	c.(1348-1350)cCg>cGg	p.P450R	THSD1_ENST00000544466.1_Missense_Mutation_p.P124R|THSD1_ENST00000258613.4_Missense_Mutation_p.P503R	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	503						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGGAGGTACCGGCCCGCTCCG	0.657000													24	99					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110170075	110170075	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:110170075C>T	ENST00000256578.3	+	8	1407	c.1047C>T	c.(1045-1047)taC>taT	p.Y349Y	AMPD2_ENST00000342115.4_Silent_p.Y268Y|AMPD2_ENST00000358729.4_Silent_p.Y274Y|AMPD2_ENST00000393688.3_Silent_p.Y230Y|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Silent_p.Y349Y|AMPD2_ENST00000528454.1_Silent_p.Y231Y	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	349					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCTGCCATACCCTGACCTGC	0.597000													24	95					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824815	74824815	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:74824815C>T	ENST00000256362.4	+	2	1570	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	443					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGCGAAAGGCCCTCCGGAGGA	0.567000													13	49					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54219310	54219310	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:54219310G>A	ENST00000259782.4	+	9	1222		c.e9-1			NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen						cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTATTTTAGCCATAATGCA	0.333000													16	52					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10910307	10910307	+	Splice_Site	SNP	C	C	T	rs147571556		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:10910307C>T	ENST00000298232.7	-	21	1762	c.1395_splice	c.e21+1	p.S465_splice	TPTE_ENST00000342420.5_Splice_Site_p.S445_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Splice_Site_p.S483_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	483	C2 tensin-type.				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)		GATTACTCACCGAATAGAAAA	0.373000													4	75					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41566361	41566361	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:41566361C>T	ENST00000396942.1	-	17	2016	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	ANK1_ENST00000289734.7_Missense_Mutation_p.E645K|ANK1_ENST00000352337.4_Missense_Mutation_p.E645K|ANK1_ENST00000379758.2_Missense_Mutation_p.E645K|ANK1_ENST00000265709.8_Missense_Mutation_p.E678K|ANK1_ENST00000347528.4_Missense_Mutation_p.E645K|ANK1_ENST00000396945.1_Missense_Mutation_p.E645K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	645	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGTGGCCCTCCTGGGCGGCC	0.627000													18	100					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404006	197404006	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:197404006G>A	ENST00000367397.1	+	5	2014	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	CRB1_ENST00000535699.1_Missense_Mutation_p.D981N|CRB1_ENST00000367400.3_Missense_Mutation_p.D1005N|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.D486N|CRB1_ENST00000367399.2_Missense_Mutation_p.D893N			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1005	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAGCATTCAAGATTCCAGATT	0.363000													5	57					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039574	55039574	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55039574C>T	ENST00000370862.3	+	1	525	c.189C>T	c.(187-189)atC>atT	p.I63I		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	63					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGTACATCATCGTGTTCGTCG	0.612000													10	72					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57983134	57983134	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:57983134G>A	ENST00000309433.6	+	1	918	c.918G>A	c.(916-918)agG>agA	p.R306R		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ACAGCTTGAGGAATAAGGATA	0.438000													26	110					0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35207556	35207556	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:35207556G>A	ENST00000274938.7	+	8	857	c.857G>A	c.(856-858)gGg>gAg	p.G286E	SCUBE3_ENST00000394681.1_Missense_Mutation_p.G302E	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	286	EGF-like 7; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TTAAACAACGGGGGCTGTGAC	0.463000													20	87					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477071	110477071	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110477071C>T	ENST00000378402.5	+	49	8114	c.8010C>T	c.(8008-8010)ttC>ttT	p.F2670F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2670					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCCTTCAGTTCCATAACTTTG	0.453000										HNSCC(38;0.096)			7	90					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454485	84454485	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:84454485C>T	ENST00000377084.2	-	1	2043	c.1158G>A	c.(1156-1158)aaG>aaA	p.K386K		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	386						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGCTGTGGATCTTGTTATCTC	0.448000													16	135					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560825	210560825	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:210560825T>G	ENST00000360351.4	+	7	4437	c.3931T>G	c.(3931-3933)Ttt>Gtt	p.F1311V	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.F1307V|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1311					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAGCGTGCGTTTTGCAGCCCT	0.507000													6	76					0	0	1	0	0
FAM46B	115572	broad.mit.edu	37	1	27333296	27333296	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:27333296G>A	ENST00000289166.5	-	2	582	c.417C>T	c.(415-417)tcC>tcT	p.S139S		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	139										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)		TCAGCTGGAAGGATGCCTCAC	0.627000													7	121					0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56171939	56171939	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56171939C>T	ENST00000450554.2	+	4	1247	c.288C>T	c.(286-288)ccC>ccT	p.P96P	U2AF2_ENST00000308924.4_Silent_p.P96P	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	96					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ACGTGCCACCCCCAGGCTTTG	0.632000													5	63					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95609032	95609032	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:95609032G>A	ENST00000395505.2	-	3	2021	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L	ZNF484_ENST00000395506.3_Silent_p.L681L|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Silent_p.L643L|ZNF484_ENST00000375495.3_Silent_p.L679L	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GATGTATATGGAGACCTGACT	0.403000													14	43					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26820742	26820742	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:26820742C>T	ENST00000444914.3	+	7	1599	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	SLC13A2_ENST00000545060.1_Silent_p.F301F|SLC13A2_ENST00000314669.5_Silent_p.F344F|SLC13A2_ENST00000537681.1_Silent_p.F273F	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	344						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TGCTCTGGTTCACCCGGGAGC	0.577000													5	75					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21343407	21343407	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:21343407G>A	ENST00000313654.9	+	8	1343	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	LAMA3_ENST00000399516.3_Missense_Mutation_p.D368N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	368	Domain V.|Laminin EGF-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)	CTGTTACTATGATCCAGATGT	0.438000													11	44					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27244026	27244026	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:27244026G>A	ENST00000429845.2	-	25	2475	c.2113C>T	c.(2113-2115)Ccg>Tcg	p.P705S	NEK10_ENST00000383770.3_Missense_Mutation_p.P17S|NEK10_ENST00000383771.4_Missense_Mutation_p.P17S|NEK10_ENST00000357467.2_Missense_Mutation_p.P102S|NEK10_ENST00000295720.6_Missense_Mutation_p.P17S			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	705	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCCCCATACGGCTCACTCTTC	0.473000													6	32					0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364501	29364501	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29364501G>A	ENST00000383555.2	+	1	86	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E9K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CTCAGTCACCGAATTTCTCCT	0.433000													36	209					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934657	113934657	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:113934657C>T	ENST00000335953.4	+	2	1015	c.635C>T	c.(634-636)tCt>tTt	p.S212F	ZBTB16_ENST00000392996.2_Missense_Mutation_p.S212F	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	212					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		ATAGGACAGTCTCTCCTGCAG	0.602000													3	36					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169362602	169362602	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:169362602C>T	ENST00000511577.1	-	10	1427	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	DDX60L_ENST00000505890.1_Missense_Mutation_p.E394K|DDX60L_ENST00000260184.7_Missense_Mutation_p.E394K			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	394							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CACAGGTCTTCATAATCCCTC	0.353000													12	56					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408827	130408827	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:130408827G>A	ENST00000370904.1	-	24	4380	c.3470C>T	c.(3469-3471)tCa>tTa	p.S1157L	IGSF1_ENST00000361420.3_Missense_Mutation_p.S1166L|IGSF1_ENST00000370903.3_Missense_Mutation_p.S1171L|IGSF1_ENST00000370910.1_Missense_Mutation_p.S1157L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1166					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGGCCAGGCTGACAGAGAGGG	0.483000													22	83					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123046465	123046465	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:123046465C>T	ENST00000462833.1	-	7	3159	c.1947_splice	c.e7+1	p.R649_splice	ADCY5_ENST00000491190.1_Splice_Site_p.R282_splice|ADCY5_ENST00000309879.5_Splice_Site_p.R299_splice	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	649					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCCCACAGACCCGCTTCTGGG	0.622000													3	28					0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232325244	232325244	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:232325244C>T	ENST00000322723.4	-	5	1083	c.843G>A	c.(841-843)aaG>aaA	p.K281K		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	281					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CCATTTCCTTCTTTCGTTTTC	0.428000													13	113					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71543030	71543030	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:71543030C>T	ENST00000304743.2	+	28	5677	c.5231C>T	c.(5230-5232)cCa>cTa	p.P1744L	PCNX_ENST00000238570.5_Missense_Mutation_p.P1672L|PCNX_ENST00000439984.3_Missense_Mutation_p.P1633L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1744						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ACCTTTAATCCAAACATTGAT	0.468000													13	63					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995073	140995073	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140995073C>T	ENST00000285879.4	+	4	2169	c.1883C>T	c.(1882-1884)cCt>cTt	p.P628L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	628							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)					CTCCAGAGCCCTGTGAGCATC	0.567000										HNSCC(15;0.026)			38	291					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42353263	42353263	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42353263C>T	ENST00000269945.3	+	6	745	c.694C>T	c.(694-696)Cac>Tac	p.H232Y	DMRTC2_ENST00000596827.1_Missense_Mutation_p.H232Y	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	232	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CCCAGGATCTCACCCAGTACT	0.562000													18	168					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10622534	10622534	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:10622534C>T	ENST00000547195.1	-	14	2175	c.1675G>A	c.(1675-1677)Gac>Aac	p.D559N	MRVI1_ENST00000424001.1_Missense_Mutation_p.D335N|MRVI1_ENST00000531107.1_Missense_Mutation_p.D642N|MRVI1_ENST00000552103.1_Missense_Mutation_p.D559N|MRVI1_ENST00000558540.1_Missense_Mutation_p.D335N|MRVI1_ENST00000545852.1_Missense_Mutation_p.D335N|MRVI1_ENST00000421747.1_Missense_Mutation_p.D641N|MRVI1_ENST00000423302.2_Missense_Mutation_p.D650N|MRVI1_ENST00000541483.1_Missense_Mutation_p.D444N|MRVI1_ENST00000527509.2_Missense_Mutation_p.D559N|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000534266.2_Missense_Mutation_p.D335N|MRVI1_ENST00000436272.1_Missense_Mutation_p.D623N	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	623					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCCGCATGGTCCTTCTCATAC	0.522000													23	173					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109859567	109859567	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:109859567G>A	ENST00000256637.6	-	17	2213	c.2155C>T	c.(2155-2157)Cca>Tca	p.P719S	SORT1_ENST00000538502.1_Missense_Mutation_p.P582S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	719	Interactions with LRPAP1 and NGFB.				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTGTCCCCTGGAATTTTCCGG	0.413000													26	90					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56702279	56702279	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56702279C>T	ENST00000586855.2	-	4	979	c.666G>A	c.(664-666)gaG>gaA	p.E222E	ZSCAN5B_ENST00000358992.3_Silent_p.E222E			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	222					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						TCAGATCCTTCTCCAAGGTCT	0.502000													12	70					0	0	1	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794525	18794525	+	Silent	SNP	C	C	T	rs144518160	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:18794525C>T	ENST00000377428.2	+	1	156	c.66C>T	c.(64-66)ttC>ttT	p.F22F	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		TGGGCCAGTTCGAGGTTCTGG	0.512000													4	40					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19467928	19467928	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:19467928G>A	ENST00000375267.2	-	57	8404	c.8401C>T	c.(8401-8403)Ccc>Tcc	p.P2801S	UBR4_ENST00000375254.3_Missense_Mutation_p.P2801S|UBR4_ENST00000375217.2_Missense_Mutation_p.P2829S|UBR4_ENST00000375226.2_Missense_Mutation_p.P2812S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2801					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGCATGGGGGGGAAGCCCTCT	0.587000													17	93					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218683158	218683158	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:218683158G>A	ENST00000171887.4	-	24	4037	c.3585C>T	c.(3583-3585)ttC>ttT	p.F1195F	TNS1_ENST00000419504.1_Silent_p.F1182F|TNS1_ENST00000430930.1_Silent_p.F1174F	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1195						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCCGCCAGCCGAAGCCAGGAC	0.637000													4	70					0	0	1	0	0
C20orf27	54976	broad.mit.edu	37	20	3736162	3736162	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:3736162G>A	ENST00000379772.3	-	4	1065	c.255C>T	c.(253-255)gtC>gtT	p.V85V	C20orf27_ENST00000217195.8_Silent_p.V110V	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	85										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						GCAGGCTGGGGACAGGTGCCT	0.617000													8	40					0	0	1	0	0
IGHV4-4	28401	broad.mit.edu	37	14	106478165	106478165	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:106478165G>A	ENST00000390596.2	-	0	356																											CAGCTTCAGGGAGAACTGGTT	0.567000													5	250					0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119461105	119461105	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:119461105G>A	ENST00000450136.1	+	2	1245	c.1084G>A	c.(1084-1086)Ggg>Agg	p.G362R	TRIM32_ENST00000373983.2_Missense_Mutation_p.G362R|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	362					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CAAGAAGATGGGGGCCAAAGG	0.547000													18	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452073	179452073	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179452073G>A	ENST00000589042.1	-	307	64089	c.63865C>T	c.(63865-63867)Cct>Tct	p.P21289S	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P12224S|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12349S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P19648S|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12416S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P18721S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19648	Fibronectin type-III 54.						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)			TTTTCAGGAGGGGCCCAGGAC	0.448000													9	25					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81545686	81545686	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:81545686G>A	ENST00000548058.1	+	6	1895	c.985G>A	c.(985-987)Gga>Aga	p.G329R	ACSS3_ENST00000548324.1_Missense_Mutation_p.G11R|ACSS3_ENST00000261206.3_Missense_Mutation_p.G328R			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	329						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTCCATATACGGACTTCAACC	0.353000													6	63					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698487	96698487	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:96698487C>T	ENST00000260682.6	+	1	60	c.48C>T	c.(46-48)ctC>ctT	p.L16L	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	16					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GTTTGCTTCTCCTTTCACTCT	0.473000													16	189					0	0	1	0	0
SFXN1	94081	broad.mit.edu	37	5	174938461	174938461	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:174938461G>A	ENST00000321442.5	+	5	696	c.442G>A	c.(442-444)Gga>Aga	p.G148R	SFXN1_ENST00000502393.1_Missense_Mutation_p.G148R	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	148					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGTGAGTTGGGAACAGCTTA	0.398000													10	119					0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951418	130951418	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:130951418C>T	ENST00000312988.7	-	4	1097	c.997G>A	c.(997-999)Gcc>Acc	p.A333T		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	333					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TTGATGGTGGCGATGGCCGCA	0.547000													11	91					0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916903	150916903	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:150916903C>T	ENST00000309180.5	-	3	501	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	91						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGAGGCAGGCTGTTACTTGG	0.433000													13	62					0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730316	5730316	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5730316C>T	ENST00000379965.3	+	8	1212	c.935C>T	c.(934-936)tCg>tTg	p.S312L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	312	B30.2/SPRY.				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)		AGTGCCACTTCGAATGTTGCT	0.413000													8	82					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130777904	130777904	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:130777904C>T	ENST00000276708.4	-	4	1421	c.540G>A	c.(538-540)ggG>ggA	p.G180G		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	180						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GAGCAATTTTCCCTAAAATAT	0.438000													5	81					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54591200	54591200	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:54591200C>T	ENST00000254442.3	+	22	3785	c.3574C>T	c.(3574-3576)Cct>Tct	p.P1192S	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.P1159S	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1192										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCCCAAACTTCCTCCACACAG	0.458000													5	54					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7736237	7736237	+	Nonsense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:7736237T>G	ENST00000572933.1	+	84	14429	c.12969T>G	c.(12967-12969)taT>taG	p.Y4323*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.Y4323*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4323					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)				ACCTAGTGTATCCCCCCAAGG	0.542000													47	156					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36766833	36766833	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:36766833G>A	ENST00000399881.3	+	21	2148	c.2111G>A	c.(2110-2112)cGa>cAa	p.R704Q		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	704						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)		CCTTAGAAACGAACTGGCAAG	0.468000													12	188					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095690	103095690	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:103095690G>A	ENST00000295269.4	+	2	1106	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	217					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						CGTGTTTGAGGAAGCGCGCGT	0.607000													3	21					0	0	1	0	0
ELK4	2005	broad.mit.edu	37	1	205592993	205592993	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:205592993G>A	ENST00000357992.4	-	2	357	c.18C>T	c.(16-18)acC>acT	p.T6T	ELK4_ENST00000468523.1_5'UTR|ELK4_ENST00000289703.4_Silent_p.T6T	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			ACTGCCACAGGGTGATAGCAC	0.423000			T	SLC45A3	prostate								6	80					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142572332	142572332	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142572332G>A	ENST00000359396.3	-	11	1609	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	455					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAGTGCAAAGGACATGGGTAC	0.592000													24	52					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113812430	113812430	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:113812430C>T	ENST00000297405.5	-	13	2177	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	CSMD3_ENST00000352409.3_Missense_Mutation_p.E645K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E605K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E541K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	645	CUB 3.					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						CCAACACTTTCGTCCGTTTGA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	45					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112141880	112141880	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:112141880G>A	ENST00000412145.1	-	21	4858	c.2305C>T	c.(2305-2307)Cgt>Tgt	p.R769C	PTPN3_ENST00000446349.1_Missense_Mutation_p.R724C|PTPN3_ENST00000374541.2_Missense_Mutation_p.R900C|PTPN3_ENST00000262539.3_Missense_Mutation_p.R746C|PTPN3_ENST00000394827.3_Missense_Mutation_p.R368C	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	900	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCATACACACGAAGAATCGCT	0.443000													9	40					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40900909	40900909	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:40900909G>A	ENST00000324001.7	-	7	3620	c.3350C>T	c.(3349-3351)gCc>gTc	p.A1117V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1117	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCACTGACGGCCACAGCCCC	0.667000													12	65					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228854	142228854	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:142228854C>T	ENST00000519067.1	-	4	1035	c.732G>A	c.(730-732)ctG>ctA	p.L244L	SLC45A4_ENST00000024061.3_Silent_p.L244L|SLC45A4_ENST00000517878.1_Silent_p.L295L|SLC45A4_ENST00000433583.2_Silent_p.L237L			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	295					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCGGGTAGTCCAGGGCCAGCT	0.692000													15	154					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776210	5776210	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5776210C>T	ENST00000317254.3	+	1	288	c.240C>T	c.(238-240)atC>atT	p.I80I	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTAGTACAATCCCTAAAGCCC	0.458000													9	58					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356235	10356235	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10356235C>T	ENST00000255381.2	-	25	3236	c.3126G>A	c.(3124-3126)ctG>ctA	p.L1042L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1042					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						TTTCTTGTTCCAGAGATCCTT	0.358000													13	85					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188328	72188328	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:72188328C>T	ENST00000537465.1	-	4	354	c.196G>A	c.(196-198)Gag>Aag	p.E66K	PMFBP1_ENST00000237353.10_Missense_Mutation_p.E66K|PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000543746.1_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	66										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)				TCTGACTCCTCGAATGCTAAT	0.418000													14	74					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38808492	38808492	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:38808492T>G	ENST00000310803.5	-	6	758	c.581A>C	c.(580-582)aAa>aCa	p.K194T	RASGRP1_ENST00000559830.1_Missense_Mutation_p.K194T|RASGRP1_ENST00000450598.2_Missense_Mutation_p.K194T|RASGRP1_ENST00000561180.1_Missense_Mutation_p.K245T|RASGRP1_ENST00000558164.1_Missense_Mutation_p.K194T|RASGRP1_ENST00000539159.1_Missense_Mutation_p.K146T	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	194					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GACTTTCCGTTTCTTGCTGGT	0.463000													12	47					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347200	48347200	+	Silent	SNP	C	C	T	rs141730559		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:48347200C>T	ENST00000319856.4	+	1	729	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTTGAACTTCCTCATGCTGG	0.522000													4	47					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753889	140753889	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140753889G>A	ENST00000517434.1	+	1	239	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAATCCGCGAAACGGCAGC	0.572000													11	69					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108604621	108604621	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:108604621C>T	ENST00000264047.2	+	2	286	c.10C>T	c.(10-12)Cat>Tat	p.H4Y	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.H4Y	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	4					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AATGGCTTTCCATGTGGAAGG	0.418000													16	93					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43820995	43820995	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:43820995C>T	ENST00000382031.1	+	5	8069	c.8038C>T	c.(8038-8040)Cgg>Tgg	p.R2680W	MAP1A_ENST00000399453.1_Missense_Mutation_p.R2442W|MAP1A_ENST00000300231.5_Missense_Mutation_p.R2442W			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2442						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CACTGAGCCTCGGCCCCATCG	0.647000													12	47					0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31763283	31763283	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:31763283G>A	ENST00000253362.2	+	5	627	c.481G>A	c.(481-483)Gat>Aat	p.D161N	BPIFA2_ENST00000354932.5_Missense_Mutation_p.D161N			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	161						extracellular region	lipid binding										AATTGAAACTGATCCCCAGAC	0.512000													19	133					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208215709	208215709	+	Silent	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:208215709T>A	ENST00000367033.3	-	22	4777	c.4020A>T	c.(4018-4020)gtA>gtT	p.V1340V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1340					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CGTTTCCTTGTACCTGGGGTG	0.617000													5	60					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46712996	46712996	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:46712996G>A	ENST00000318962.4	-	25	2846	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	ALS2CL_ENST00000383742.3_Silent_p.F268F|ALS2CL_ENST00000415953.1_Silent_p.F921F	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	921	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CTGTGAGCAGGAAGTCATACA	0.592000													9	29					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100547861	100547861	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:100547861G>A	ENST00000372907.3	-	1	184	c.173C>T	c.(172-174)cCt>cTt	p.P58L	TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	58					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CTCGTCGGCAGGAATCTGGGT	0.557000													36	97					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19501773	19501773	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19501773C>T	ENST00000396229.2	+	18	3379	c.2630C>T	c.(2629-2631)tCc>tTc	p.S877F	TMC5_ENST00000564959.1_Missense_Mutation_p.S560F|TMC5_ENST00000561503.1_Missense_Mutation_p.S518F|TMC5_ENST00000542583.2_Missense_Mutation_p.S877F|TMC5_ENST00000541464.1_Missense_Mutation_p.S825F|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000219821.5_Missense_Mutation_p.S631F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	877						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTCATTCACTCCATCTACAGC	0.478000													33	150					0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117703	46117703	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:46117703C>T	ENST00000400365.3	+	1	617	c.587C>T	c.(586-588)tCc>tTc	p.S196F	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	196	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						TCCTCCGTGTCCCTCCTCTGC	0.706000													9	155					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475590	42475590	+	Silent	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:42475590G>T	ENST00000434000.1	-	9	3903	c.3621C>A	c.(3619-3621)ccC>ccA	p.P1207P	GPATCH8_ENST00000591680.1_Silent_p.P1285P			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1285						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GATCCCCACTGGGAGGTGCAT	0.582000													9	153					0.000274275	0.000275778	1	1	0
ADCY4	196883	broad.mit.edu	37	14	24795355	24795355	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:24795355C>T	ENST00000310677.4	-	13	1698	c.1585G>A	c.(1585-1587)Gga>Aga	p.G529R	ADCY4_ENST00000396747.3_Missense_Mutation_p.G222R|ADCY4_ENST00000418030.2_Missense_Mutation_p.G529R|ADCY4_ENST00000554068.2_Missense_Mutation_p.G529R	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	529					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCATCTAGTCCCCGGGGGGTA	0.602000													12	45					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10720081	10720081	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:10720081C>T	ENST00000377022.3	-	6	1335	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	CASZ1_ENST00000344008.5_Missense_Mutation_p.D340N	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTCTCCAGGTCGTACTTGGAT	0.607000													21	158					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638996	55638996	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55638996C>T	ENST00000370830.3	-	4	1576	c.878G>A	c.(877-879)gGa>gAa	p.G293E	BMP5_ENST00000446683.2_Missense_Mutation_p.G293E	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	293					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGACTGAGGTCCCTGTCTTCC	0.433000													8	110					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538558	27538558	+	RNA	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:27538558C>G	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							ATGGTAAGTCCCAGGTCCAAA	0.483000													17	171					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870681	51870681	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:51870681C>T	ENST00000371497.5	+	2	1571	c.684C>T	c.(682-684)gtC>gtT	p.V228V	TSHZ2_ENST00000603338.2_Silent_p.V225V|TSHZ2_ENST00000329613.6_Silent_p.V225V	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	228					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACACCCTAGTCGAGCTGACTG	0.547000													5	41					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611640	50611640	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:50611640C>T	ENST00000444124.2	-	2	344	c.144G>A	c.(142-144)caG>caA	p.Q48Q	DDC_ENST00000431062.1_Silent_p.Q48Q|DDC_ENST00000357936.5_Silent_p.Q48Q|DDC_ENST00000426377.1_Silent_p.Q48Q|DDC_ENST00000380984.4_Silent_p.Q48Q	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	48					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TGTCTGGCTCCTGAGGGGCAG	0.557000													21	136					0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61178549	61178549	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:61178549G>A	ENST00000340437.4	-	9	1491	c.1411C>T	c.(1411-1413)Cct>Tct	p.P471S	CPSF7_ENST00000448745.1_Missense_Mutation_p.P419S|CPSF7_ENST00000439958.3_Missense_Mutation_p.P419S|CPSF7_ENST00000394888.4_Missense_Mutation_p.P428S	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	428					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GACCGGCTAGGTGACCTTTCC	0.502000													7	101					0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123683804	123683804	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:123683804A>C	ENST00000369043.3	-	2	233	c.147T>G	c.(145-147)gaT>gaG	p.D49E	ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000224652.6_Missense_Mutation_p.D49E|ATE1_ENST00000540606.1_Missense_Mutation_p.D42E|ATE1_ENST00000369040.3_Intron|ATE1_ENST00000543447.1_5'UTR	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	49					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GGTCTATGAGATCCTGATAAT	0.388000													8	95					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60419758	60419758	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:60419758G>A	ENST00000360469.5	+	5	699	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R130Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	204	Cadherin 1.				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)			ATCCCCATCCGGTACAGCATC	0.607000													6	88					0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	54011727	54011727	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:54011727G>A	ENST00000401642.3	-	5	1467	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	SCFD2_ENST00000388940.4_Missense_Mutation_p.S445F	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	445					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TAACACAACGGACATTGCTGA	0.373000													8	51					0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198634	15198634	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15198634G>A	ENST00000209540.2	+	1	844	c.758G>A	c.(757-759)gGg>gAg	p.G253E		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	253					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						CTGTCCTATGGGACCATCTTT	0.542000													6	41					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262304	61262304	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61262304C>T	ENST00000344731.5	+	7	759	c.657C>T	c.(655-657)tcC>tcT	p.S219S	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	219					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AGAGCCATTCCTTTAGCTTCA	0.423000													6	62					0	0	1	0	0
NXPE1	120400	broad.mit.edu	37	11	114393665	114393665	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:114393665G>A	ENST00000536271.1	-	3	1435	c.192C>T	c.(190-192)ctC>ctT	p.L64L	NXPE1_ENST00000424269.1_Silent_p.L348L|NXPE1_ENST00000251921.2_Silent_p.L206L					neurexophilin and PC-esterase domain family, member 1																		GGAGGTAAATGAGTTTGCCTT	0.373000													12	26					0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22973975	22973975	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:22973975A>G	ENST00000374639.3	+	3	555	c.437A>G	c.(436-438)aAc>aGc	p.N146S	C1QC_ENST00000374640.4_Missense_Mutation_p.N146S|C1QC_ENST00000374637.1_Missense_Mutation_p.N146S	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	146	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTCCTCACCAACCCGCAGGGA	0.562000													10	56					0	0	1	0	0
FAM227B	196951	broad.mit.edu	37	15	49663592	49663592	+	Silent	SNP	G	G	A	rs145082626		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:49663592G>A	ENST00000299338.6	-	12	1320	c.1017C>T	c.(1015-1017)atC>atT	p.I339I		NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TATTGAAGTCGATACCTAAAA	0.328000													21	77					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108723687	108723687	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:108723687C>T	ENST00000232603.5	-	20	2144	c.2062G>A	c.(2062-2064)Gaa>Aaa	p.E688K	MORC1_ENST00000483760.1_Missense_Mutation_p.E667K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	688					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGGCACCCTTCAGTTGGTTGA	0.353000													46	253					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212908	131212908	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:131212908C>T	ENST00000298542.4	-	12	1312	c.1137G>A	c.(1135-1137)agG>agA	p.R379R	FRMD7_ENST00000464296.1_Silent_p.R364R|FRMD7_ENST00000370879.1_Silent_p.R259R	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	379					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					aattcctcctcctactctcca	0.493000													27	117					0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116694	28116694	+	Silent	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:28116694A>C	ENST00000535992.1	-	3	457	c.111T>G	c.(109-111)gcT>gcG	p.A37A	PTHLH_ENST00000545234.1_Silent_p.A37A|PTHLH_ENST00000201015.4_Silent_p.A37A|PTHLH_ENST00000538310.1_Silent_p.A37A|PTHLH_ENST00000395872.1_Silent_p.A37A|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395868.3_Silent_p.A37A|PTHLH_ENST00000354417.3_Silent_p.A37A|PTHLH_ENST00000539239.1_Silent_p.A37A			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	37					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GTTCAGACACAGCTCTTTTGC	0.403000													10	108					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31086609	31086609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:31086609C>T	ENST00000597505.1	-	17	2389	c.2390G>A	c.(2389-2391)tGg>tAg	p.W797*	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)					AGCTGTGGTCCAGGCACCATG	0.443000													5	30					0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27939619	27939619	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:27939619C>T	ENST00000374005.3	-	13	1684	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	FGR_ENST00000399173.1_Missense_Mutation_p.E466K|FGR_ENST00000374004.1_Missense_Mutation_p.E466K|FGR_ENST00000545953.1_Missense_Mutation_p.E400K	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	466	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.E466K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCCAACACTTCCCGTTTATTC	0.622000													12	61					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378035	19378035	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:19378035C>T	ENST00000550708.1	+	1	514	c.442C>T	c.(442-444)Cct>Tct	p.P148S		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGCTCTATCCTAATATCAT	0.448000													11	299					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92088176	92088176	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:92088176G>A	ENST00000256343.3	-	19	2192	c.2036C>T	c.(2035-2037)gCc>gTc	p.A679V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	679					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)				GGTAGCAATGGCTAATGCATT	0.418000													7	39					0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120918248	120918248	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:120918248C>T	ENST00000422003.2	+	3	333	c.145C>T	c.(145-147)Ctc>Ttc	p.L49F	TBCEL_ENST00000529397.1_Missense_Mutation_p.L49F	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	49						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TCGCCTCAACCTCCCAAGTGT	0.418000													7	72					0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39516062	39516062	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:39516062G>A	ENST00000292853.4	-	6	960	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	FBXO27_ENST00000509137.2_Missense_Mutation_p.R281C|FBXO27_ENST00000600828.1_Missense_Mutation_p.R280C	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	281					protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TAGGACAGACGGACTCGCACG	0.587000													7	99					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28914126	28914126	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:28914126G>A	ENST00000257192.4	+	8	1178	c.966G>A	c.(964-966)atG>atA	p.M322I		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	322	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGATAGAAATGAATGAAAGAA	0.279000													7	49					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72255991	72255991	+	Silent	SNP	C	C	T	rs148288565	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:72255991C>T	ENST00000305425.4	-	2	1328	c.906G>A	c.(904-906)gaG>gaA	p.E302E	DACH1_ENST00000313174.7_Silent_p.E302E|DACH1_ENST00000359684.2_Silent_p.E302E|DACH1_ENST00000354591.4_Silent_p.E302E	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	300	Interaction with SIX6 and HDAC3 (By similarity).				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)		TGTGAGAGTTCTCTGGGGAGG	0.413000													3	32					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524426	112524426	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:112524426C>T	ENST00000369697.1	-	1	992	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	KCND3_ENST00000315987.2_Missense_Mutation_p.R308Q|KCND3_ENST00000302127.4_Missense_Mutation_p.R308Q			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	308						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)		GCCCAGGATCCGCAGGCCCTG	0.562000													5	45					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150554636	150554636	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150554636G>A	ENST00000493429.1	+	4	1662	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R	AOC1_ENST00000360937.4_Missense_Mutation_p.G360R|AOC1_ENST00000416793.2_Missense_Mutation_p.G360R|AOC1_ENST00000467291.1_Missense_Mutation_p.G360R					amine oxidase, copper containing 1																		GGCGCTGTATGGAGGACACAC	0.647000													10	119					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229845	21229845	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21229845G>A	ENST00000233242.1	-	26	10022	c.9895C>T	c.(9895-9897)Ctg>Ttg	p.L3299L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3299					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATGATGGCAGGATTAATGTG	0.443000													17	65					0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118166421	118166421	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:118166421C>T	ENST00000369448.3	+	2	1178	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	311										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CATGATCCTTCGCAGGGTGGT	0.542000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			16	49					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63316527	63316527	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:63316527G>A	ENST00000322893.7	-	8	1681	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	KCNH5_ENST00000394968.1_Silent_p.F413F|KCNH5_ENST00000420622.2_Silent_p.F471F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	471					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATTTGCTGGAAAATTGTTG	0.348000													9	50					0	0	1	0	0
RIMS4	140730	broad.mit.edu	37	20	43385614	43385614	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:43385614G>A	ENST00000372851.3	-	5	582	c.516C>T	c.(514-516)gtC>gtT	p.V172V	RIMS4_ENST00000541604.2_Silent_p.V173V	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	172	C2.				exocytosis|neurotransmitter transport	cell junction|synapse		p.V172V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				ACTTGCGAGCGACTTTGGTCT	0.562000													35	335					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61102641	61102641	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:61102641C>T	ENST00000196169.3	+	11	1791	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	TDRD3_ENST00000535286.1_Missense_Mutation_p.R428C|TDRD3_ENST00000377881.2_Missense_Mutation_p.R335C|TDRD3_ENST00000377894.2_Missense_Mutation_p.R335C	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	335					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAAACCGCCTCGTTTTCAAAG	0.383000													8	72					0	0	1	0	0
GTSF1L	149699	broad.mit.edu	37	20	42355239	42355239	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:42355239C>T	ENST00000373003.1	-	1	399	c.96G>A	c.(94-96)aaG>aaA	p.K32K	GTSF1L_ENST00000373005.2_Silent_p.K32K	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	32							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTTGGGGTTCTTTCTCCTGC	0.498000													19	93					0	0	1	0	0
CXCL12	6387	broad.mit.edu	37	10	44873329	44873329	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:44873329C>T	ENST00000395794.2	-	4	334	c.291G>A	c.(289-291)ggG>ggA	p.G97G	CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000395793.3_Intron	NM_001178134.1	NP_001171605.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	TCACCCTCTTCCCGGCTGGTG	0.612000													3	8					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91172590	91172590	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:91172590C>T	ENST00000420329.2	+	11	1239	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	CRTC3_ENST00000268184.6_Silent_p.L364L|RP11-387D10.2_ENST00000559531.1_RNA	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	364					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			ACCCTTCGCTCCGTCTGTTTT	0.557000			T	MAML2	salivary gland mucoepidermoid								23	298					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1558801	1558801	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:1558801C>T	ENST00000357210.4	+	3	359	c.143C>T	c.(142-144)tCt>tTt	p.S48F	MIB2_ENST00000355826.5_Intron|MIB2_ENST00000504599.1_Missense_Mutation_p.S4F|MIB2_ENST00000378710.3_Missense_Mutation_p.S48F|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000378708.1_Intron|MIB2_ENST00000518681.1_Missense_Mutation_p.S105F|MIB2_ENST00000520777.1_Missense_Mutation_p.S105F|MIB2_ENST00000360522.4_Missense_Mutation_p.S48F|MIB2_ENST00000505820.2_Missense_Mutation_p.S105F	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	48					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ATGGACCCCTCTGCCCACAGG	0.711000													6	25					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508742	24508742	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:24508742G>A	ENST00000376454.3	+	2	288	c.258G>A	c.(256-258)atG>atA	p.M86I	KIAA1217_ENST00000376452.3_Missense_Mutation_p.M86I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.M86I|KIAA1217_ENST00000376462.1_Missense_Mutation_p.M6I	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	86					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						CATCTGAGATGGATCGGAAGA	0.527000													11	76					0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109190068	109190068	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:109190068C>T	ENST00000392644.4	+	4	501	c.333C>T	c.(331-333)tcC>tcT	p.S111S	ARMC2_ENST00000368972.3_5'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	111							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AGGAGGATTCCTGCTTTTCCT	0.493000													9	55					0	0	1	0	0
HIST1H3J	8356	broad.mit.edu	37	6	27858565	27858565	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:27858565G>A	ENST00000359303.2	-	1	5	c.6C>T	c.(4-6)gcC>gcT	p.A2A	HIST1H3J_ENST00000479986.1_5'UTR	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	2					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						GCTTCGTCCGGGCCATAGTTG	0.557000													5	43					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13770933	13770933	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:13770933G>A	ENST00000265104.4	-	56	9634	c.9530C>T	c.(9529-9531)tCa>tTa	p.S3177L	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3177					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)					GGAGAGGTATGATTTGGGCGT	0.478000									Kartagener syndrome				10	44					0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912022	87912022	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:87912022G>A	ENST00000380079.4	-	3	1019	c.918C>T	c.(916-918)ctC>ctT	p.L306L	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Silent_p.L306L|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000595121.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	306	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CAAGTGTGTAGAGGACATGAA	0.443000													5	51					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79027695	79027695	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:79027695C>T	ENST00000446378.2	+	2	3138	c.3107C>T	c.(3106-3108)tCc>tTc	p.S1036F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1036						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCAGGTTATTCCTGCTTTTCA	0.418000													5	17					0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2189823	2189823	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:2189823C>T	ENST00000381178.1	-	4	496	c.478G>A	c.(478-480)Gag>Aag	p.E160K	TH_ENST00000352909.3_Missense_Mutation_p.E129K|TH_ENST00000333684.5_Missense_Mutation_p.E133K|TH_ENST00000381175.1_Missense_Mutation_p.E156K	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	160					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	ACGAAGTACTCCAGGTGGGGG	0.672000													3	21					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55198740	55198740	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55198740C>T	ENST00000340465.2	+	3	400	c.314C>T	c.(313-315)tCa>tTa	p.S105L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	105						integral to membrane	receptor activity	p.S105L(1)		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)			ATCAATAAATCAGGTAATATT	0.269000													15	65					0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4389579	4389579	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:4389579C>T	ENST00000355530.2	+	10	1516	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G	SPNS3_ENST00000333476.2_Silent_p.G285G|RP13-580F15.2_ENST00000576086.1_RNA	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	412					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TCACGGTGGGCCACATCCTGG	0.647000													6	34					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14647077	14647077	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:14647077C>T	ENST00000403951.2	-	17	1837	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	DGKB_ENST00000406247.3_Missense_Mutation_p.G473E|DGKB_ENST00000258767.5_Missense_Mutation_p.G473E|DGKB_ENST00000407950.1_Missense_Mutation_p.G465E|DGKB_ENST00000402815.1_Missense_Mutation_p.G472E|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.G473E|DGKB_ENST00000444700.2_Missense_Mutation_p.G454E			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	473	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGGTCCATTTCCAGAAAGACT	0.294000													12	34					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141636	114141636	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:114141636C>T	ENST00000276198.1	+	6	1763	c.1035C>T	c.(1033-1035)ctC>ctT	p.L345L	HTR2C_ENST00000371951.1_Silent_p.L345L|HTR2C_ENST00000371950.3_3'UTR	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	345					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)	ACCAAAAGCTCATGGAAAAGC	0.383000													29	86					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18629968	18629968	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:18629968G>A	ENST00000406072.1	+	3	410	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	HDAC9_ENST00000405010.3_Splice_Site_p.E89_splice|HDAC9_ENST00000441542.2_Missense_Mutation_p.E92K|HDAC9_ENST00000432645.2_Splice_Site_p.E89_splice|HDAC9_ENST00000456174.2_Missense_Mutation_p.E61K|HDAC9_ENST00000406451.3_Splice_Site_p.E89_splice|HDAC9_ENST00000401921.1_Missense_Mutation_p.E92K|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000524023.1_Splice_Site_p.E58_splice|HDAC9_ENST00000417496.2_Splice_Site_p.E131_splice|HDAC9_ENST00000428307.2_Splice_Site_p.E89_splice			Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	89					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GTTGCAACAGGAACTTCTAGC	0.428000													3	20					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30982479	30982479	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:30982479A>G	ENST00000298139.5	+	23	3037	c.2788A>G	c.(2788-2790)Atg>Gtg	p.M930V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	930					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTGGGAATTATGGGAACTGA	0.318000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				27	92					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155267725	155267725	+	Missense_Mutation	SNP	C	C	T	rs138538638		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:155267725C>T	ENST00000460012.1	-	10	1480	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	PLCH1_ENST00000414191.1_Missense_Mutation_p.E375K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E375K|PLCH1_ENST00000494598.1_Missense_Mutation_p.E393K|PLCH1_ENST00000340059.7_Missense_Mutation_p.E393K|PLCH1_ENST00000447496.2_Missense_Mutation_p.E393K			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	393	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGTGATTCTCGATAGACAAT	0.448000													9	43					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42174916	42174916	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:42174916G>A	ENST00000320955.6	-	10	2140	c.1913C>T	c.(1912-1914)aCc>aTc	p.T638I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	638					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCGCTGCAGGGTCTGCTCCAG	0.662000													3	12					0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538771	31538771	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:31538771G>A	ENST00000286808.3	-	1	200	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	55					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TGGCTTGTCGGATGCAATTCA	0.542000													9	95					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870597	51870597	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:51870597G>A	ENST00000371497.5	+	2	1487	c.600G>A	c.(598-600)caG>caA	p.Q200Q	TSHZ2_ENST00000603338.2_Silent_p.Q197Q|TSHZ2_ENST00000329613.6_Silent_p.Q197Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	200					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGTACCGACAGAGCAGCAAGA	0.582000													7	36					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826118	43826118	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:43826118C>T	ENST00000389420.3	-	21	3084	c.3085G>A	c.(3085-3087)Gaa>Aaa	p.E1029K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E1029K|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.E183K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1029	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCGCTCCATTCACTAGCAGCC	0.383000													5	43					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151894384	151894384	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:151894384G>A	ENST00000367290.5	+	6	939	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	CCDC170_ENST00000239374.7_Missense_Mutation_p.G284S			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	284																	GCTGCTTGCTGGCCAGCAGGT	0.473000													15	37					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675842	62675842	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:62675842G>A	ENST00000498273.1	+	4	1691	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	466	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TGATGGCATGGAAACTACTTT	0.438000													18	71					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114304421	114304421	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:114304421C>T	ENST00000408937.3	+	17	2382	c.2008C>T	c.(2008-2010)Ctc>Ttc	p.L670F	FOXP2_ENST00000393498.2_Missense_Mutation_p.L624F|FOXP2_ENST00000403559.4_Missense_Mutation_p.L662F|FOXP2_ENST00000393494.2_Missense_Mutation_p.L645F|FOXP2_ENST00000393489.3_Missense_Mutation_p.L553F|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.L645F|FOXP2_ENST00000393491.3_Missense_Mutation_p.L460F	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	645					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CCACGAAGACCTCAATGGTTC	0.498000													4	57					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47944104	47944104	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:47944104G>A	ENST00000289672.2	-	12	1852	c.1802C>T	c.(1801-1803)tCa>tTa	p.S601L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	601	PKD 2.				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						TACCAGAGCTGAGGAGGGGGA	0.557000													8	37					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44083235	44083235	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:44083235C>T	ENST00000359947.4	+	24	4531	c.4191C>T	c.(4189-4191)atC>atT	p.I1397I	PTPRF_ENST00000438120.1_Silent_p.I1388I|PTPRF_ENST00000372414.3_Silent_p.I1397I|PTPRF_ENST00000372413.3_Silent_p.I1388I|PTPRF_ENST00000422171.2_Silent_p.I756I|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1397	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTACCTCTATCGATGGTGAGC	0.552000													20	125					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18687468	18687468	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:18687468C>T	ENST00000406451.3	+	10	1237	c.1087C>T	c.(1087-1089)Cct>Tct	p.P363S	HDAC9_ENST00000405010.3_Missense_Mutation_p.P363S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P366S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P363S|HDAC9_ENST00000456174.2_Missense_Mutation_p.P335S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P322S|HDAC9_ENST00000524023.1_Missense_Mutation_p.P286S|HDAC9_ENST00000406072.1_Missense_Mutation_p.P350S|HDAC9_ENST00000417496.2_Missense_Mutation_p.P361S|HDAC9_ENST00000428307.2_Missense_Mutation_p.P319S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	363					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.P366S(2)|p.P361S(1)|p.P363S(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCAAGGTGTTCCTCTGCCTGG	0.502000													4	19					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970459	123970459	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:123970459G>A	ENST00000369005.1	+	9	6859	c.6519G>A	c.(6517-6519)acG>acA	p.T2173T	TACC2_ENST00000513429.1_Silent_p.T319T|TACC2_ENST00000358010.1_Silent_p.T319T|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000360561.3_Silent_p.T251T|TACC2_ENST00000368999.1_Silent_p.T251T|TACC2_ENST00000453444.2_Silent_p.T2177T|TACC2_ENST00000334433.3_Silent_p.T2173T|TACC2_ENST00000260733.3_Silent_p.T251T|TACC2_ENST00000369004.3_Silent_p.T251T|TACC2_ENST00000515273.1_Silent_p.T2177T|TACC2_ENST00000515603.1_Silent_p.T2128T|TACC2_ENST00000369001.1_5'UTR	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2173						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)				CATCTGAGACGAAAACGGAAT	0.592000													12	85					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317782	30317782	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:30317782C>T	ENST00000375377.1	-	3	1396	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	432										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						TTTAAAATGTCGTAACCGTGG	0.522000													22	107					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104048347	104048347	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:104048347G>A	ENST00000388887.2	+	13	1626	c.1422G>A	c.(1420-1422)aaG>aaA	p.K474K		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	474	FAS1 1.				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						ATCAAATAAAGCTTAAACTCC	0.408000													6	40					0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160969738	160969738	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:160969738C>T	ENST00000368026.6	-	6	896	c.622G>A	c.(622-624)Gga>Aga	p.G208R	F11R_ENST00000537746.1_Missense_Mutation_p.G159R|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	208	Ig-like V-type 2.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CTGTATTCTCCAGTATCAGAG	0.483000													6	57					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34204930	34204930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34204930G>A	ENST00000373381.4	-	15	2355	c.2179C>T	c.(2179-2181)Cga>Tga	p.R727*		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	687	Sushi 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCGTTGTGTCGGAAGGCTGTG	0.512000													15	74					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86869513	86869513	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:86869513G>A	ENST00000373119.4	+	3	812	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	KLHL4_ENST00000373114.4_Missense_Mutation_p.V223I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	223	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ACAAGAAGAGGTCAGGATGGA	0.398000													6	25					0	0	1	0	0
IGLV2-11	28816	broad.mit.edu	37	22	23135368	23135368	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:23135368C>T	ENST00000390314.2	+	0	272																											AAGCGGCCCTCAGGGGTCCCT	0.542000													29	315					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179442498	179442498	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179442498C>T	ENST00000589042.1	-	323	68879	c.68655G>A	c.(68653-68655)tcG>tcA	p.S22885S	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.S13820S|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.S13945S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.S21244S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.S14012S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.S20317S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21244	Fibronectin type-III 66.						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)			TCCAAGACTTCGAAGGTAGAT	0.393000													5	76					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793504	65793504	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:65793504T>C	ENST00000312106.5	-	1	484	c.347A>G	c.(346-348)cAt>cGt	p.H116R		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	116	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GAGCTCATCATGGTAGTCCTC	0.597000													7	87					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114243463	114243463	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:114243463C>T	ENST00000369604.1	-	16	2482	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K	PHTF1_ENST00000393357.2_Missense_Mutation_p.E667K|PHTF1_ENST00000369598.1_Missense_Mutation_p.E622K|PHTF1_ENST00000369600.1_Missense_Mutation_p.E614K|PHTF1_ENST00000369596.2_Missense_Mutation_p.E614K|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	667						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		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)		TTATTGGTTTCAGACCCCAGT	0.388000													13	61					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68478450	68478450	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:68478450C>T	ENST00000255087.5	-	9	1409	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	409					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TAGTGTCTTTCGTTCTGGGCT	0.388000													5	29					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369271	20369271	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:20369271G>A	ENST00000593655.1	-	0	199																											TATGGAAAATGGCATAGTACG	0.378000													19	99					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156918259	156918259	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:156918259C>T	ENST00000368194.3	-	23	2996	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.E613K|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.E29K	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	613					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)					TTGAGGCTTTCAGAGCGGCCC	0.572000													8	57					0	0	1	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684891	80684891	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:80684891C>T	ENST00000269373.6	+	6	847	c.774C>T	c.(772-774)tcC>tcT	p.S258S	FN3KRP_ENST00000535965.1_Silent_p.S208S	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	258							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TTAGCAGCTCCTTTTACTCCG	0.512000													6	89					0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34317262	34317262	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:34317262G>A	ENST00000361162.6	-	6	772	c.388C>T	c.(388-390)Cca>Tca	p.P130S	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000253363.6_Missense_Mutation_p.P130S|RBM39_ENST00000528062.3_Missense_Mutation_p.P108S	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	130					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TTTCTGAATGGACTTTTGCTT	0.353000													14	89					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165175186	165175186	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:165175186G>A	ENST00000342310.3	-	8	1285	c.903C>T	c.(901-903)gcC>gcT	p.A301A	LMX1A_ENST00000294816.2_Silent_p.A301A|LMX1A_ENST00000367893.4_Silent_p.A301A|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	301						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCTGCTCGATGGCCAGGAGCT	0.567000													13	53					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520036	23520036	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:23520036T>C	ENST00000374619.1	-	1	1186	c.677A>G	c.(676-678)aAc>aGc	p.N226S	HTR1D_ENST00000314113.3_Missense_Mutation_p.N226S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	226					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAGGATGCGGTTCCGGGCAGC	0.592000													9	49					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10729698	10729698	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:10729698C>T	ENST00000283025.2	-	6	1235	c.1164G>A	c.(1162-1164)ctG>ctA	p.L388L	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	388					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGGCCACCTTCAGCGGGCCCT	0.622000													31	169					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499584	75499584	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:75499584C>T	ENST00000360639.2	+	2	1515	c.1195C>T	c.(1195-1197)Cct>Tct	p.P399S	C15orf39_ENST00000567617.1_Missense_Mutation_p.P399S|C15orf39_ENST00000394987.4_Missense_Mutation_p.P399S			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	399										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGGGACACCACCTTCCCAGAA	0.617000													12	124					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30913173	30913173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:30913173G>A	ENST00000383096.3	-	10	1026	c.844C>T	c.(844-846)Caa>Taa	p.Q282*	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.Q282*|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.Q282*|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.Q282*|CCDC178_ENST00000583930.1_Nonsense_Mutation_p.Q282*|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.Q282*|CCDC178_ENST00000402325.1_Nonsense_Mutation_p.Q282*					coiled-coil domain containing 178																		TTCAGATCTTGAAGTTCCTGA	0.333000													9	38					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830498	61830498	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:61830498C>T	ENST00000280772.1	-	37	10332	c.10141G>A	c.(10141-10143)Gaa>Aaa	p.E3381K	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)	3381					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						TGGGCAATTTCATTCTGAGGT	0.458000													11	68					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192525	66192525	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:66192525C>T	ENST00000311034.2	+	7	2340	c.2164C>T	c.(2164-2166)Ccc>Tcc	p.P722S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	722					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TACCCCAGATCCCAGTGAGGA	0.587000													16	74					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50807922	50807922	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:50807922C>T	ENST00000263046.4	+	7	1187	c.1021C>T	c.(1021-1023)Ccc>Tcc	p.P341S	TFAP2B_ENST00000393655.3_Missense_Mutation_p.P332S			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	332					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AACGGAGTTTCCCGCCAAAGC	0.478000													9	182					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139202184	139202184	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:139202184G>A	ENST00000423192.1	+	14	1917	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	ECT2L_ENST00000541398.1_Missense_Mutation_p.E517K|ECT2L_ENST00000367682.2_Missense_Mutation_p.E586K			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	586	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GCAGATACTGGAAATTGTGAG	0.428000			"""N, Splice, Mis"""		ETP ALL								4	51					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076269	9076269	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9076269G>A	ENST00000397910.4	-	3	11380	c.11177C>T	c.(11176-11178)tCc>tTc	p.S3726F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3727	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						CAGAAAAGTGGACAGGGGCGT	0.493000													20	95					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108697016	108697016	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:108697016C>T	ENST00000218006.2	-	4	1396	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	369					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TGTCCATTTTCTTTCATAGCA	0.383000													4	16					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390600	61390600	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61390600G>A	ENST00000544088.1	+	0	1208				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				ATACCAACACGATCCTATTCT	0.502000													12	126					0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127224953	127224953	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:127224953G>T	ENST00000321407.2	-	1	708	c.284C>A	c.(283-285)aCt>aAt	p.T95N	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	95						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCGGTCCCAGTGCTATCCTC	0.612000													15	53					3.27435e-08	3.30904e-08	1	1	0
COLEC10	10584	broad.mit.edu	37	8	120118308	120118308	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:120118308G>A	ENST00000332843.2	+	6	753	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	238	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GAATGAGGGGGAACCCAGCGA	0.502000													11	48					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040237	31040237	+	Silent	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:31040237T>A	ENST00000355537.3	+	4	3858	c.3711T>A	c.(3709-3711)ggT>ggA	p.G1237G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACAGCCAGGGTCTTCTCCAAG	0.667000													3	33					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78013838	78013838	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:78013838C>T	ENST00000397545.4	+	3	348	c.321C>T	c.(319-321)atC>atT	p.I107I	CCDC40_ENST00000374877.3_Silent_p.I107I|CCDC40_ENST00000269318.5_Silent_p.I107I|CCDC40_ENST00000374876.4_Silent_p.I107I	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	107					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGGGCAAATCAGTGCTGCAG	0.517000													15	61					0	0	1	0	0
CGB1	114335	broad.mit.edu	37	19	49538906	49538906	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49538906G>A	ENST00000301407.7	-	3	533	c.429C>T	c.(427-429)ccC>ccT	p.P143P	CGB1_ENST00000391869.3_Silent_p.P143P|CTB-60B18.6_ENST00000591656.1_Intron	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	175						extracellular region	hormone activity			liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GAAGGCTGGGGGGAGGGGCCT	0.627000													17	89					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214818217	214818217	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:214818217T>G	ENST00000366955.3	+	13	5472	c.5304T>G	c.(5302-5304)gaT>gaG	p.D1768E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1864					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATCAGGAAGATATCCATAATC	0.393000													9	43					0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55282743	55282743	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:55282743C>T	ENST00000358193.3	+	9	1186	c.1132C>T	c.(1132-1134)Ctg>Ttg	p.L378L	C1orf177_ENST00000371273.3_Silent_p.L378L	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	378										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ATCCCTATTCCTGAGTGGATC	0.612000													17	51					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220422626	220422626	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:220422626G>A	ENST00000404537.1	-	11	3765	c.3709C>T	c.(3709-3711)Cca>Tca	p.P1237S	OBSL1_ENST00000265318.4_Missense_Mutation_p.P1145S|OBSL1_ENST00000265317.5_Missense_Mutation_p.P228S|OBSL1_ENST00000373876.1_Missense_Mutation_p.P1237S|OBSL1_ENST00000603926.1_Missense_Mutation_p.P1237S	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1237	Ig-like 10.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCATGGGCTGGGCCTGCAGCC	0.687000													6	33					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103276021	103276021	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:103276021G>A	ENST00000424685.2	-	19	2475	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F	RELN_ENST00000428762.1_Silent_p.F772F|RELN_ENST00000343529.5_Silent_p.F772F			P78509	RELN_HUMAN	reelin	772					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTCTCAGTGTGAACTGGAGAA	0.358000													9	76					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773233	60773233	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:60773233G>A	ENST00000335712.6	-	2	485	c.258C>T	c.(256-258)tcC>tcT	p.S86S	BCL11A_ENST00000358510.4_Silent_p.S86S|BCL11A_ENST00000356842.4_Silent_p.S86S|BCL11A_ENST00000359629.5_Silent_p.S86S|BCL11A_ENST00000538214.1_Silent_p.S86S|BCL11A_ENST00000537768.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	86	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.S86S(3)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTGGTGAAGGGGAAGGTGGCT	0.463000			T	IGH@	B-CLL								13	66					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17414613	17414613	+	Silent	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:17414613A>C	ENST00000302539.4	-	39	4799	c.4674T>G	c.(4672-4674)ctT>ctG	p.L1558L	ABCC8_ENST00000389817.3_Silent_p.L1557L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1557	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)	TATCGAACTCAAGGATGGCAC	0.622000													14	53					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37051982	37051982	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:37051982C>T	ENST00000282516.8	+	41	7555	c.7056C>T	c.(7054-7056)ttC>ttT	p.F2352F	NIPBL_ENST00000448238.2_Silent_p.F2352F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2352					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATGCTGGATTCATTCATGTAT	0.343000													8	35					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784560	140784560	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140784560C>G	ENST00000573521.1	+	1	2041	c.2041C>G	c.(2041-2043)Cct>Gct	p.P681A	PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCAGATCCCTGCAGACCT	0.602000													10	116					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137018414	137018414	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:137018414G>A	ENST00000359015.4	-	5	1278	c.918C>T	c.(916-918)atC>atT	p.I306I		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	306					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCAAGACTTCGATATTATCTA	0.378000													11	60					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100226993	100226993	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100226993G>A	ENST00000462107.1	-	11	1560	c.1273C>T	c.(1273-1275)Cac>Tac	p.H425Y	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Missense_Mutation_p.S339L|TFR2_ENST00000223051.3_Missense_Mutation_p.H425Y			Q9UP52	TFR2_HUMAN	transferrin receptor 2	425					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACAACGTAGTGATCTGGGGAG	0.607000													14	55					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811151	5811151	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:5811151C>T	ENST00000381095.3	-	6	2785	c.2158G>A	c.(2158-2160)Gat>Aat	p.D720N	NLGN4X_ENST00000538097.1_Missense_Mutation_p.D720N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D720N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D740N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D720N	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	720					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGAGCGATATCATTTGTGGTG	0.522000													14	40					0	0	1	0	0
SIX2	10736	broad.mit.edu	37	2	45235775	45235775	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:45235775C>T	ENST00000303077.6	-	1	794	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	159						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCCGTGGCCTCCGCCAGCTCA	0.637000													6	89					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351338	10351338	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10351338C>T	ENST00000255381.2	-	34	4872	c.4762G>A	c.(4762-4764)Gat>Aat	p.D1588N	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1588					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						TTTAGCTGATCGAGTTCTTCA	0.413000													18	89					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50155897	50155897	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:50155897C>T	ENST00000360565.3	+	7	2375	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	751	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCAGAAGGATCGGCGCCGCTC	0.706000													3	5					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29475202	29475202	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:29475202G>A	ENST00000373795.4	-	6	1439	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	402	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TCTGGACTGGGAGCGGTCAGT	0.587000													42	195					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399477	46399477	+	Silent	SNP	G	G	A	rs145700287	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:46399477G>A	ENST00000292301.4	+	2	944	c.459G>A	c.(457-459)acG>acA	p.T153T	CCR2_ENST00000400888.2_Silent_p.T153T|CCR2_ENST00000445132.2_Silent_p.T153T|CCR2_ENST00000465202.1_Intron	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	153					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		AAGCCAGGACGGTCACCTTTG	0.453000													58	224					0	0	1	0	0
TNP1	7141	broad.mit.edu	37	2	217724400	217724400	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:217724400G>A	ENST00000236979.2	-	2	187	c.158C>T	c.(157-159)tCc>tTc	p.S53F	AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	53					chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCACAAGTGGGAGCGGTAATT	0.522000													9	138					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37864606	37864606	+	Silent	SNP	C	C	T	rs147785188		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:37864606C>T	ENST00000406381.2	+	5	678	c.168C>T	c.(166-168)atC>atT	p.I56I	ERBB2_ENST00000578199.1_Silent_p.I56I|ERBB2_ENST00000541774.1_Silent_p.I71I|ERBB2_ENST00000540147.1_Silent_p.I56I|ERBB2_ENST00000269571.5_Silent_p.I86I|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540042.1_Silent_p.I56I|ERBB2_ENST00000584450.1_Silent_p.I86I|ERBB2_ENST00000584601.1_Silent_p.I56I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	86					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ACGTGCTCATCGCTCACAACC	0.612000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			7	85					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2909255	2909255	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:2909255G>A	ENST00000254695.8	+	16	1369	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.E412K|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.E427K|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.E408K	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	427	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						CCAGGGCCCGGAATTCAGGGA	0.572000													5	69					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31601198	31601198	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31601198C>T	ENST00000376033.2	+	17	4596	c.4362C>T	c.(4360-4362)ccC>ccT	p.P1454P	PRRC2A_ENST00000376007.4_Silent_p.P1454P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1454	4 X 57 AA type A repeats.|Poly-Pro.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCTGCCTCCCCCACCTCCCA	0.572000													5	63					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43606783	43606783	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:43606783C>T	ENST00000355710.3	+	7	1624	c.1392C>T	c.(1390-1392)atC>atT	p.I464I	RET_ENST00000340058.5_Silent_p.I464I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	464					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCTCGGGGATCCTGTTTGTGA	0.607000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				24	65					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10258295	10258295	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10258295G>A	ENST00000418404.3	-	9	981	c.818C>T	c.(817-819)tCc>tTc	p.S273F	MYH13_ENST00000570743.1_Missense_Mutation_p.S273F|MYH13_ENST00000252172.4_Missense_Mutation_p.S273F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	273	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						CGTCACTCTGGATTTTTCTAA	0.368000													6	23					0	0	1	0	0
ASAH2	56624	broad.mit.edu	37	10	52005005	52005005	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:52005005C>T	ENST00000395526.3	-	2	336	c.337G>A	c.(337-339)Gga>Aga	p.G113R	ASAH2_ENST00000447815.1_Missense_Mutation_p.G113R|ASAH2_ENST00000329428.6_Missense_Mutation_p.G94R	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	113					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	p.G113*(1)|p.G94*(1)		large_intestine(1)|lung(9)|urinary_tract(1)	11						GCTACTTGTCCTGTGCAGTCA	0.423000													17	200					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179629474	179629474	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179629474G>A	ENST00000589042.1	-	42	9992	c.9768C>T	c.(9766-9768)gcC>gcT	p.A3256A	TTN_ENST00000460472.2_Silent_p.A3210A|TTN_ENST00000359218.5_Silent_p.A3210A|TTN_ENST00000591111.1_Silent_p.A3256A|TTN_ENST00000360870.5_Silent_p.A3256A|TTN_ENST00000342175.6_Silent_p.A3210A|TTN_ENST00000342992.6_Silent_p.A3256A|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2986	Ig-like 19.						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)			CACAGAAGCGGGCAGGCTTGC	0.512000													4	88					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880946	70880946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:70880946C>T	ENST00000333538.5	+	4	1295	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	221	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGTAAGAAATCAGAAGAGGGA	0.557000													7	31					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156665120	156665120	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156665120G>A	ENST00000422843.3	+	9	922	c.768_splice	c.e9-1	p.G257_splice		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	257	SH2.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.G257D(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCATTCCAGGGCAAAGAAGGA	0.473000			T	SYK	peripheral T-cell lymphoma								4	41					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76407209	76407209	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:76407209T>C	ENST00000370014.3	+	18	2883	c.2264T>C	c.(2263-2265)tTt>tCt	p.F755S	SENP6_ENST00000447266.2_Missense_Mutation_p.F755S|SENP6_ENST00000370010.2_Missense_Mutation_p.F748S|SENP6_ENST00000541192.1_Missense_Mutation_p.F351S	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	755	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GAGAAGGATTTTATTTTTGTA	0.323000													6	36					0	0	1	0	0
ALKBH8	91801	broad.mit.edu	37	11	107422621	107422621	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:107422621C>T	ENST00000428149.2	-	6	764	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	ALKBH8_ENST00000417449.2_Missense_Mutation_p.E208K|ALKBH8_ENST00000429370.1_Missense_Mutation_p.E205K|ALKBH8_ENST00000389568.3_Missense_Mutation_p.E205K	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	205					response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AAAAAGCTTTCACAAATGTCA	0.313000													4	25					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86123597	86123597	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:86123597C>T	ENST00000394518.2	+	7	2393	c.2298C>T	c.(2296-2298)gtC>gtT	p.V766V	AKAP13_ENST00000361243.2_Silent_p.V766V	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	766					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATCCAGTTGTCCCTAAAATGG	0.423000													15	71					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134427866	134427866	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:134427866G>A	ENST00000370766.3	-	3	2910	c.201C>T	c.(199-201)atC>atT	p.I67I	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Silent_p.I67I	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	67	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAAGTTGGCTGATAGTCTCAA	0.478000													14	48					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30128328	30128328	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:30128328C>T	ENST00000449742.2	-	1	383	c.308G>A	c.(307-309)gGa>gAa	p.G103E	TRIM10_ENST00000376704.3_Missense_Mutation_p.G103E	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	103						cytoplasm	zinc ion binding			ovary(1)	1						GATCTTCTCTCCGTGCTCTTG	0.592000													7	110					0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74968140	74968140	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:74968140G>A	ENST00000299727.3	+	2	693	c.693G>A	c.(691-693)ttG>ttA	p.L231L	GALR1_ENST00000582943.1_3'UTR	NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	231					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		ATAAAAAGTTGAAGAACATGT	0.333000													6	60					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021116	5021116	+	Missense_Mutation	SNP	C	C	T	rs139272622	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5021116C>T	ENST00000321543.1	+	1	904	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R302C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGCAGATTCGTCTAGGAAT	0.433000													10	54					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100345955	100345955	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100345955C>T	ENST00000542585.1	+	0	1259				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGAGGGTTTTCCTCAGTGTGA	0.562000													15	49					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129172423	129172423	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:129172423C>T	ENST00000280333.6	+	35	3666	c.3557C>T	c.(3556-3558)aCc>aTc	p.T1186I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1186	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GATTATAGAACCATCATGCAC	0.438000													4	14					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203779	84203779	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:84203779C>T	ENST00000378553.5	+	8	1469	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	449	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGCCCCACCACCCCCGCCACC	0.612000													11	57					0	0	1	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37163008	37163008	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:37163008G>A	ENST00000421307.1	-	7	727	c.305C>T	c.(304-306)tCc>tTc	p.S102F	LRRFIP2_ENST00000336686.4_Missense_Mutation_p.S102F|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.S85F|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000354379.4_Intron	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	102	DVL3-binding.				Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACTTCGAATGGACAATGCATC	0.358000													6	48					0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36689599	36689599	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:36689599G>A	ENST00000264659.7	-	19	3709	c.3485C>T	c.(3484-3486)tCg>tTg	p.S1162L	SRCIN1_ENST00000578925.1_Missense_Mutation_p.S1196L	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	1034					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCTGGAAGCCGAGGGCTTTTC	0.557000													3	25					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231255	7231255	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:7231255C>T	ENST00000383467.2	+	1	133	c.119C>T	c.(118-120)cCg>cTg	p.P40L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	40										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGAAGGGACCCGCGGTCCCTG	0.617000													19	83					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10603396	10603396	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:10603396C>T	ENST00000334534.5	+	8	776	c.596C>T	c.(595-597)gCa>gTa	p.A199V		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		TCAGTGATTGCAGAGATAGCA	0.473000													15	46					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057147	72057147	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:72057147G>A	ENST00000378743.3	-	1	602	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	ZFC3H1_ENST00000552037.1_Nonsense_Mutation_p.Q82*|THAP2_ENST00000308086.2_De_novo_Start_OutOfFrame|ZFC3H1_ENST00000548100.1_Nonsense_Mutation_p.Q82*	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	82	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCCTCAGCTGCTGCTGAGAA	0.662000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	120					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120466292	120466292	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:120466292G>A	ENST00000256646.2	-	26	5046	c.4827C>T	c.(4825-4827)tcC>tcT	p.S1609S	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1609	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCAGGAAGGGATCTGCGTG	0.483000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				23	82					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50031254	50031254	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:50031254C>T	ENST00000261897.1	+	16	2029	c.1476_splice	c.e16-1	p.T493_splice	PRPF40B_ENST00000380281.1_Splice_Site_p.T499_splice|PRPF40B_ENST00000548825.2_Splice_Site_p.T521_splice			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	499	FF 2.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCTGCTCAGACCTTCCTGGAC	0.572000											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	30					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66713282	66713282	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:66713282G>A	ENST00000423207.2	+	2	861	c.376G>A	c.(376-378)Gac>Aac	p.D126N	PDE4B_ENST00000371049.3_Missense_Mutation_p.D141N|PDE4B_ENST00000329654.4_Missense_Mutation_p.D141N	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	141					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.D126Y(1)|p.D141Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ATCAGACAGCGACTATGACTT	0.522000													21	107					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19653460	19653460	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:19653460G>A	ENST00000284885.3	-	22	2598	c.2565C>T	c.(2563-2565)gtC>gtT	p.V855V		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	855	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTAATCGAGGGACTGTTTGAG	0.383000													19	122					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928106	31928106	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31928106T>C	ENST00000375394.2	+	4	459	c.346T>C	c.(346-348)Tac>Cac	p.Y116H	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	116						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GATACTGGGTTACAAAGAGGT	0.567000													53	161					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151869543	151869543	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:151869543G>A	ENST00000367290.5	+	5	782	c.693G>A	c.(691-693)acG>acA	p.T231T	CCDC170_ENST00000239374.7_Silent_p.T231T			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	231																	GCAGAGAAACGATCATGAGGC	0.408000													3	32					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768540	57768540	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:57768540G>A	ENST00000371030.2	+	1	2466	c.2466G>A	c.(2464-2466)agG>agA	p.R822R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	822						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)					CCTCAGAGAGGAAGAAGCTGA	0.637000													12	43					0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14303159	14303159	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:14303159G>A	ENST00000545643.1	-	5	847	c.534C>T	c.(532-534)gtC>gtT	p.V178V	RRAS2_ENST00000534746.1_Silent_p.V95V|RRAS2_ENST00000537760.1_Silent_p.V137V|RRAS2_ENST00000532814.1_Silent_p.V95V|RRAS2_ENST00000526063.1_Silent_p.V95V|RRAS2_ENST00000529237.1_Silent_p.V95V|RRAS2_ENST00000414023.2_Silent_p.V95V|RRAS2_ENST00000256196.4_Silent_p.V172V	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	172						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TGATAACCCGGACAAGTTCAT	0.353000													11	59					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976844	46976844	+	Nonsense_Mutation	SNP	C	C	T	rs138457936	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:46976844C>T	ENST00000371956.4	+	3	601	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	DMBX1_ENST00000360032.3_Nonsense_Mutation_p.Q191*	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	196					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCCCGAGGATCAGCCGGACCG	0.672000													7	45					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84256591	84256591	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:84256591G>A	ENST00000308251.4	-	3	860	c.792C>T	c.(790-792)atC>atT	p.I264I		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	264						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGGTCTCCACGATGAAAATAT	0.567000													8	23					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110838746	110838746	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:110838746G>A	ENST00000375820.4	-	26	2004	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	628	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGCCTGGGGATCCAGGGCC	0.622000													12	165					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296284	20296284	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20296284G>A	ENST00000315947.1	+	1	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTCGCATACGAGGGTCTTCT	0.478000													9	194					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67268166	67268166	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:67268166G>A	ENST00000258201.4	-	13	1687	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A	FHOD1_ENST00000567687.1_Silent_p.A59A	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	480					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGAGTTGCCGGGCATCTAAAG	0.642000													3	54					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33577042	33577042	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:33577042C>T	ENST00000504830.1	-	19	3424	c.3089G>A	c.(3088-3090)aGa>aAa	p.R1030K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R945K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1030	Spacer 2.				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						GGTCAGCATTCTGGGCCTGGA	0.532000										HNSCC(64;0.19)			8	100					0	0	1	0	0
PON3	5446	broad.mit.edu	37	7	94996712	94996712	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:94996712C>T	ENST00000265627.5	-	5	466	c.456G>A	c.(454-456)ctG>ctA	p.L152L	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.L152L	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TCAGGTATACCAGAGAACGTT	0.358000													10	76					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584130	7584130	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:7584130G>A	ENST00000379802.3	+	24	6976	c.6635G>A	c.(6634-6636)gGa>gAa	p.G2212E	DSP_ENST00000418664.2_Missense_Mutation_p.G1613E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2212	Globular 2.				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)		TCCTTCCAAGGAATCAGACAA	0.463000													6	68					0	0	1	0	0
TNFRSF17	608	broad.mit.edu	37	16	12059233	12059233	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:12059233T>C	ENST00000053243.1	+	1	270	c.52T>C	c.(52-54)Ttg>Ctg	p.L18L	RP11-166B2.1_ENST00000532936.1_Intron|TNFRSF17_ENST00000396495.3_Silent_p.L18L	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	18					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						TGACAGTTTGTTGCATGCTTG	0.403000			T	IL2	intestinal T-cell lymphoma								35	119					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45867868	45867868	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:45867868G>A	ENST00000311275.7	-	15	2492	c.2239C>T	c.(2239-2241)Cca>Tca	p.P747S	ZMYND8_ENST00000360911.3_Missense_Mutation_p.P742S|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P742S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P774S|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P767S|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P747S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P747S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P747S|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P767S|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P684S|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P767S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P695S			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	747							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GTGGATGGTGGAGTTTTACCT	0.562000													15	128					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94152932	94152932	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94152932G>A	ENST00000553484.1	+	45	7171	c.7017G>A	c.(7015-7017)gcG>gcA	p.A2339A	UNC79_ENST00000393151.2_Silent_p.A2317A|UNC79_ENST00000256339.4_Silent_p.A2140A|UNC79_ENST00000555664.1_Silent_p.A2278A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2317						integral to membrane		p.A2339A(1)|p.A2140A(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGACTGCAGCGATGGAGTGTG	0.507000													5	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179659747	179659747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179659747G>A	ENST00000589042.1	-	7	1371	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	TTN_ENST00000460472.2_Nonsense_Mutation_p.Q383*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q383*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q383*|TTN_ENST00000360870.5_Nonsense_Mutation_p.Q383*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q383*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q383*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	383							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)			ACTTGCTCCTGGACACCGTAT	0.572000													6	58					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36091719	36091719	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:36091719C>T	ENST00000225893.4	-	4	1273	c.912G>A	c.(910-912)agG>agA	p.R304R	HNF1B_ENST00000561193.1_Silent_p.R278R|HNF1B_ENST00000427275.2_Silent_p.R278R|HNF1B_ENST00000560016.1_Silent_p.R304R	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	304					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCTCCTCCTTCCTGCGGTTTG	0.607000													8	95					0	0	1	0	0
TRIM41	90933	broad.mit.edu	37	5	180661489	180661489	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:180661489G>A	ENST00000315073.5	+	6	2317	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Intron	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	536	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCCGCCGCCGGCTCCACCTG	0.667000													7	34					0	0	1	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17911453	17911453	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:17911453C>T	ENST00000458468.1	+	0	579				MIR99A_ENST00000384906.1_RNA	NR_027790.1																						GTGAAGTGGACCGCACAAGCT	0.423000													6	22					0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378913	142378913	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142378913G>A	ENST00000390398.3	+	0	218																											TCCAGGAATGGAACTACACCT	0.428000													38	95					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37543402	37543402	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:37543402A>C	ENST00000379066.1	-	2	1028	c.266T>G	c.(265-267)gTg>gGg	p.V89G	PRKD3_ENST00000234179.2_Missense_Mutation_p.V89G			O94806	KPCD3_HUMAN	protein kinase D3	89					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TATGGAGCACACAAGATCCTT	0.378000													17	135					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196879431	196879431	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:196879431C>T	ENST00000367416.2	+	6	954	c.817C>T	c.(817-819)Cca>Tca	p.P273S	CFHR4_ENST00000367418.1_Missense_Mutation_p.P27S|CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TTGTGAGTTTCCAGAAATTCA	0.313000													7	21					0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84765138	84765138	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:84765138C>T	ENST00000257776.4	+	2	236	c.101C>T	c.(100-102)tCc>tTc	p.S34F		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	34					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GGACCAGTTTCCTTTGAAGGA	0.373000													5	52					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80391650	80391650	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:80391650C>T	ENST00000337014.6	+	5	873	c.399C>T	c.(397-399)gtC>gtT	p.V133V	HEXDC_ENST00000327949.9_Silent_p.V133V|HEXDC_ENST00000577944.1_Silent_p.V133V	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	133					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TTGACCAGGTCCTGGAGCTAC	0.662000													4	46					0	0	1	0	0
SLC35C1	55343	broad.mit.edu	37	11	45827369	45827369	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:45827369T>C	ENST00000314134.3	+	1	1413	c.17T>C	c.(16-18)cTg>cCg	p.L6P	SLC35C1_ENST00000442528.2_5'UTR|SLC35C1_ENST00000456334.1_5'UTR	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	6						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		AGGGCCCCTCTGAAGCGGTCC	0.637000													12	51					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137322957	137322957	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:137322957G>A	ENST00000367748.1	-	6	1653	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	IL20RA_ENST00000541547.1_Missense_Mutation_p.S418L|IL20RA_ENST00000316649.5_Missense_Mutation_p.S467L			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	467	Poly-Glu.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CCCCTCCTCCGAGTCTGTGTG	0.607000													15	83					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8618320	8618320	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:8618320C>T	ENST00000338257.8	-	5	595	c.326_splice	c.e5-1	p.G110_splice		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	110	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCACTCTCTCCACTGGGGATG	0.517000													13	64					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8486289	8486289	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:8486289C>T	ENST00000447869.1	-	3	1338	c.420G>A	c.(418-420)acG>acA	p.T140T	STK33_ENST00000534493.1_Silent_p.T99T|STK33_ENST00000396672.1_Silent_p.T140T|STK33_ENST00000396673.1_Silent_p.T140T|STK33_ENST00000358872.3_5'UTR|STK33_ENST00000315204.1_Silent_p.T140T			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	140	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTGCCCACTTCGTTTCTGTTT	0.413000													6	69					0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40726603	40726603	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:40726603G>A	ENST00000372759.3	+	2	381	c.216G>A	c.(214-216)ctG>ctA	p.L72L	ZMPSTE24_ENST00000479131.1_3'UTR	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	72						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCTATCAACTGGATAAAAGCA	0.393000													30	97					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105858457	105858457	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:105858457G>A	ENST00000258456.1	+	1	258	c.142G>A	c.(142-144)Ggg>Agg	p.G48R		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	48						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GACCGTGGTGGGGTTCCTGGG	0.622000													9	107					0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72608825	72608825	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:72608825C>T	ENST00000392619.1	-	4	701	c.666G>A	c.(664-666)gtG>gtA	p.V222V	CD300E_ENST00000426295.2_Silent_p.V236V|CD300E_ENST00000328630.3_Silent_p.V195V	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	195						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGGCCTGTTCACCCAGAAGA	0.632000													7	92					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513407	78513407	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:78513407C>T	ENST00000397909.2	+	15	3604	c.3431C>T	c.(3430-3432)tCc>tTc	p.S1144F	NAV3_ENST00000228327.6_Missense_Mutation_p.S1144F|NAV3_ENST00000536525.2_Missense_Mutation_p.S1144F|NAV3_ENST00000266692.7_Missense_Mutation_p.S1144F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1144	Ser-rich.					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						CCTTCAAAATCCAGCACCAGT	0.522000										HNSCC(70;0.22)			7	54					0	0	1	0	0
SACM1L	22908	broad.mit.edu	37	3	45763501	45763501	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:45763501C>T	ENST00000389061.5	+	9	893	c.689C>T	c.(688-690)tCg>tTg	p.S230L	SACM1L_ENST00000418611.1_Missense_Mutation_p.S127L|SACM1L_ENST00000541314.1_Missense_Mutation_p.S169L	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	230	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GGAATTGATTCGGAAGGCCAT	0.353000													4	22					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027310	55027310	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:55027310G>A	ENST00000324000.3	+	4	2979	c.945G>A	c.(943-945)gaG>gaA	p.E315E		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	315					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TATGTGAAGAGATCCACTTGT	0.403000													6	31					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965891	88965891	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:88965891C>T	ENST00000333190.4	+	4	4204	c.3595C>T	c.(3595-3597)Cca>Tca	p.P1199S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1199						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACAGACAGTTCCAGTTCACCA	0.507000										HNSCC(36;0.09)			10	97					0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48325462	48325462	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:48325462G>A	ENST00000376876.3	-	4	975	c.132C>T	c.(130-132)ttC>ttT	p.F44F	SLC38A5_ENST00000317669.5_Silent_p.F44F|SLC38A5_ENST00000376875.1_5'UTR			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	44					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						TCTTCCCCTCGAACTGCACGC	0.592000											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	6					0	0	1	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374188	95374188	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:95374188C>T	ENST00000494840.1	-	0	1673					NR_077228.1																						ACGGTGGCATCATCTCTGGGA	0.428000													5	38					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72028045	72028045	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:72028045C>T	ENST00000378743.3	-	12	2758	c.2400G>A	c.(2398-2400)aaG>aaA	p.K800K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	800					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATGAACTTGTCTTCAGCTGAT	0.353000													3	40					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51873000	51873000	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:51873000G>A	ENST00000371497.5	+	2	3890	c.3003G>A	c.(3001-3003)cgG>cgA	p.R1001R	TSHZ2_ENST00000603338.2_Silent_p.R998R|TSHZ2_ENST00000329613.6_Silent_p.R998R|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1001					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGTGCTGTCGGACATTTGTGA	0.473000													9	64					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010772	78010772	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:78010772C>T	ENST00000435339.2	+	2	811	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	LPAR4_ENST00000373301.2_Missense_Mutation_p.R136C	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	136						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TAGTGTGGATCGTTTCCTGGC	0.483000													24	76					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435524	18435524	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:18435524G>A	ENST00000433979.1	+	2	625	c.509G>A	c.(508-510)gGa>gAa	p.G170E	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.G170E|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G170E|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G170E|RERGL_ENST00000541632.1_Intron	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	170					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TACCATATAGGATTTGAAAGT	0.338000													13	56					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118487697	118487697	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:118487697C>T	ENST00000311085.8	+	19	4748	c.4668C>T	c.(4666-4668)tcC>tcT	p.S1556S	DMXL1_ENST00000539542.1_Silent_p.S1556S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1556										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTACAACTTCCCTTCCAGCCT	0.408000													10	82					0	0	1	0	0
PEF1	553115	broad.mit.edu	37	1	32096264	32096264	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:32096264G>A	ENST00000373703.4	-	5	827	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	HCRTR1_ENST00000373705.1_Intron	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	269	EF-hand 5.|Required for interaction with PDCD6.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		AAGCTGAGCCGAATGTTGCCT	0.572000													11	35					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156641209	156641209	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156641209G>A	ENST00000422843.3	+	4	485	c.333G>A	c.(331-333)agG>agA	p.R111R	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	111	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGAAACGAGGAATAATAACA	0.453000			T	SYK	peripheral T-cell lymphoma								5	72					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60484460	60484460	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:60484460G>A	ENST00000450662.2	+	10	981	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	EFCAB3_ENST00000305286.3_Missense_Mutation_p.V252M	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	252							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TGTGGATGGGGTGGTGATGGG	0.358000													8	50					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36263196	36263196	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:36263196G>A	ENST00000394571.2	+	5	770	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	PNPLA1_ENST00000388715.3_Missense_Mutation_p.R162Q|PNPLA1_ENST00000312917.5_Missense_Mutation_p.R171Q	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	257					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TACTTGAGGCGGCTGAGTAAG	0.562000													8	60					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053605	50053605	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:50053605G>A	ENST00000376042.1	+	6	2734	c.2436G>A	c.(2434-2436)aaG>aaA	p.K812K	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.K812K|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	812					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)					GCATTGAGAAGGAAGCTGTCC	0.557000													5	19					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117352780	117352780	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:117352780G>A	ENST00000321322.6	-	12	2638	c.2637C>T	c.(2635-2637)atC>atT	p.I879I	DSCAML1_ENST00000527706.1_Silent_p.I609I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	819	Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCCAGCGGATGATGATGGGCC	0.622000													8	42					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046906	175046906	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:175046906G>A	ENST00000239462.4	+	2	465	c.352G>A	c.(352-354)Gag>Aag	p.E118K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	118					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCTGGAGGAAGAGATGGTGGA	0.557000													8	44					0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10477120	10477120	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:10477120C>T	ENST00000538557.1	+	9	1126	c.882C>T	c.(880-882)ccC>ccT	p.P294P	PGD_ENST00000270776.8_Silent_p.P307P|PGD_ENST00000541529.1_Silent_p.P285P|PGD_ENST00000498356.1_3'UTR			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	307					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		TGAAGGGTCCCCAGAAGTTCC	0.502000													17	87					0	0	1	0	0
RNASE6	6039	broad.mit.edu	37	14	21250264	21250264	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:21250264G>A	ENST00000304677.2	+	2	699	c.406G>A	c.(406-408)Gat>Aat	p.D136N		NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6	136					defense response|RNA catabolic process	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		TCAGAAGAGCGATCCCCCCTA	0.468000													22	121					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89939544	89939544	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:89939544C>T	ENST00000389297.4	+	23	3069	c.2818C>T	c.(2818-2820)Cct>Tct	p.P940S	C7orf63_ENST00000316089.8_Missense_Mutation_p.P894S|C7orf63_ENST00000497910.1_Missense_Mutation_p.P922S	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	940							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AAAGAGTATTCCTACGTAATA	0.323000													13	29					0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21415020	21415020	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:21415020C>T	ENST00000529198.1	-	2	285	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	C10orf113_ENST00000534331.1_Missense_Mutation_p.G67D|C10orf113_ENST00000377118.4_Missense_Mutation_p.G57D|NEBL_ENST00000417816.2_Intron	NM_001177483.1	NP_001170954.1	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	0										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						AGGCCTCAGGCCCTTCTCGGC	0.562000													9	52					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180763	142180763	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142180763C>T	ENST00000390368.2	-	0	161																											GTCCTGTCTTCAGGACCTGGA	0.542000													15	258					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619363	52619363	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:52619363G>A	ENST00000600228.1	-	4	1315	c.1054C>T	c.(1054-1056)Cca>Tca	p.P352S	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CATTTATATGGTTTCTTTCCT	0.403000													23	128					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155172641	155172641	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:155172641G>A	ENST00000368378.3	-	8	939	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Silent_p.L187L|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000428962.2_Silent_p.L157L|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	307	EGF-like 1.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTGCCCTGCAGGCCAGGGGGG	0.627000													5	64					0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219362824	219362824	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:219362824G>A	ENST00000258399.3	-	12	1494	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	USP37_ENST00000454775.1_Missense_Mutation_p.S361L|USP37_ENST00000415516.1_Missense_Mutation_p.S289L|USP37_ENST00000418019.1_Missense_Mutation_p.S361L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	361					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TGACTGGAGTGAAAATAGAGA	0.348000													16	41					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53845206	53845206	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:53845206G>A	ENST00000288139.3	+	49	6437	c.6319G>A	c.(6319-6321)Gaa>Aaa	p.E2107K	CACNA1D_ENST00000350061.5_Missense_Mutation_p.E2087K|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E2063K	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2087					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AACAAAACACGAAATCGCTGA	0.552000													12	64					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8331686	8331686	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:8331686C>T	ENST00000381196.4	-	41	5973	c.5430G>A	c.(5428-5430)gaG>gaA	p.E1810E	PTPRD_ENST00000540109.1_Silent_p.E1810E|PTPRD_ENST00000360074.4_Silent_p.E1797E|PTPRD_ENST00000358503.5_Silent_p.E1788E|PTPRD_ENST00000355233.5_Silent_p.E1404E|PTPRD_ENST00000397617.3_Silent_p.E1403E|PTPRD_ENST00000537002.1_Silent_p.E1400E|PTPRD_ENST00000486161.1_Silent_p.E1403E|PTPRD_ENST00000356435.5_Silent_p.E1810E|PTPRD_ENST00000397606.3_Silent_p.E1403E|PTPRD_ENST00000397611.3_Silent_p.E1400E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1810	Tyrosine-protein phosphatase 2.				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)		GCACTCCTTGCTCTGGCCAGT	0.507000										TSP Lung(15;0.13)			4	58					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800935	185800935	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:185800935C>T	ENST00000302277.6	+	4	1406	c.812C>T	c.(811-813)tCt>tTt	p.S271F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	271						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						CTTTTGAGTTCTGAGGAGAAA	0.393000													8	60					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65714115	65714115	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:65714115G>A	ENST00000253247.4	+	1	167	c.52G>A	c.(52-54)Ggg>Agg	p.G18R	NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	18						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCTGAGCGCCGGGCCTGAAGG	0.572000											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	51					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053071	50053071	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:50053071C>T	ENST00000376042.1	+	6	2200	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.F634F|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	634					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)					AAGAAAAGTTCCTCTCCCAGG	0.453000													6	14					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431264	135431264	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:135431264C>T	ENST00000394143.1	+	6	5690	c.5399C>T	c.(5398-5400)tCc>tTc	p.S1800F	GPR112_ENST00000287534.4_Missense_Mutation_p.S1737F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1595F|GPR112_ENST00000412101.1_Missense_Mutation_p.S1595F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1800F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1800					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)					AAGATGACTTCCTTGTTAGAA	0.408000													22	70					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553751	106553751	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:106553751G>A	ENST00000369096.4	+	5	1950	c.1716G>A	c.(1714-1716)aaG>aaA	p.K572K	PRDM1_ENST00000369091.2_Silent_p.K536K|PRDM1_ENST00000369089.3_Silent_p.K438K	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	572					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGAACGGCAAGATCAAGTACG	0.522000			"""D, N, Mis, F, S"""		DLBCL								10	48					0	0	1	0	0
ADA	100	broad.mit.edu	37	20	43257723	43257723	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:43257723G>A	ENST00000372874.4	-	3	317	c.183C>T	c.(181-183)ttC>ttT	p.F61F	ADA_ENST00000537820.1_Silent_p.F61F	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	61					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	ACTTGGCCAGGAAGTCTGGAA	0.567000									Adenosine Deaminase Deficiency				15	104					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247294	164247294	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:164247294C>T	ENST00000296533.2	-	2	944	c.413G>A	c.(412-414)cGa>cAa	p.R138Q	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	138					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)				CAGCTGATGTCGTTCCACAGC	0.443000													16	61					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	119998143	119998143	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:119998143C>T	ENST00000341846.5	-	3	1456	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	TRIM29_ENST00000541857.1_Silent_p.V78V|TRIM29_ENST00000529044.1_Silent_p.V84V	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	345					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CATCCATGATCACCTTCACTT	0.582000													7	145					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36047316	36047316	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:36047316G>A	ENST00000560016.1	-	8	1747	c.1614C>T	c.(1612-1614)caC>caT	p.H538H	HNF1B_ENST00000225893.4_3'UTR|HNF1B_ENST00000561193.1_3'UTR|HNF1B_ENST00000427275.2_Silent_p.H447H			P35680	HNF1B_HUMAN	HNF1 homeobox B	338					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGCCCAGAGGGTGATGGTGTG	0.577000													4	29					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76797105	76797105	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:76797105T>A	ENST00000285871.4	+	2	247	c.120T>A	c.(118-120)gaT>gaA	p.D40E	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	40										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GGTTTGTTGATTTATCTGAAA	0.338000													7	51					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461493	11461493	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:11461493C>T	ENST00000279575.1	-	3	457	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	PRB4_ENST00000445719.2_Intron|PRB4_ENST00000535904.1_Missense_Mutation_p.E142K	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	205	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGTGGTCTTTCTGGCTTTCCT	0.607000										HNSCC(22;0.051)			65	316					0	0	1	0	0
ZAK	51776	broad.mit.edu	37	2	174055896	174055896	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:174055896C>T	ENST00000338983.3	+	7	768	c.573C>T	c.(571-573)tcC>tcT	p.S191S	MLTK_ENST00000480606.1_3'UTR|MLTK_ENST00000539448.1_Silent_p.S191S|MLTK_ENST00000431503.2_Silent_p.S90S|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000409176.2_Silent_p.S191S|MLTK_ENST00000375213.3_Silent_p.S191S	NM_133646.2	NP_598407.1																					ACACATATTCCTATGGTGTGG	0.378000													4	57					0	0	1	0	0
CEBPA	1050	broad.mit.edu	37	19	33792420	33792420	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:33792420C>T	ENST00000498907.2	-	1	1050	c.901G>A	c.(901-903)Gac>Aac	p.D301N	CTD-2540B15.7_ENST00000587312.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	301					cytokine-mediated signaling pathway|generation of precursor metabolites and energy|interspecies interaction between organisms|positive regulation of transcription from RNA polymerase III promoter		sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.D301>DKAKQRNVETQHH(1)|p.R300_D301>QN(1)|p.H200_K352>Q(1)|p.?(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					TTGGCCTTGTCGCGGCTCTTG	0.657000			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation				11	42					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540817	55540817	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:55540817G>A	ENST00000220676.1	+	4	4523	c.4375G>A	c.(4375-4377)Gaa>Aaa	p.E1459K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1459					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)			GACATCAAGTGAAAGAAACAT	0.373000													5	44					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102651289	102651289	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:102651289G>A	ENST00000279441.4	-	1	70	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	12					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CAGACTGGCAGACACAACAGC	0.493000													5	19					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168810858	168810858	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:168810858C>T	ENST00000464456.1	-	12	3661	c.2461G>A	c.(2461-2463)Gaa>Aaa	p.E821K	MECOM_ENST00000494292.1_Missense_Mutation_p.E1009K|MECOM_ENST00000460814.1_Missense_Mutation_p.E821K|MECOM_ENST00000392736.3_Missense_Mutation_p.E830K|MECOM_ENST00000264674.3_Missense_Mutation_p.E895K|MECOM_ENST00000472280.1_Missense_Mutation_p.E831K|MECOM_ENST00000468789.1_Missense_Mutation_p.E830K|MECOM_ENST00000433243.2_Missense_Mutation_p.E831K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCTGTACTTTCCAGTTCAGAA	0.418000													21	68					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82353490	82353490	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:82353490C>T	ENST00000509081.1	-	13	1578	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	RASGEF1B_ENST00000264400.2_Missense_Mutation_p.E454K|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.E412K			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	454					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ATATGATTTTCAGGTCCTTCA	0.383000													8	27					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77752666	77752666	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:77752666C>T	ENST00000344720.5	+	2	1049	c.23C>T	c.(22-24)cCa>cTa	p.P8L	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.P34L	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	34					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CCCGAAGATCCAGTAGAATAC	0.348000													15	52					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52901819	52901819	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:52901819C>T	ENST00000354452.3	-	16	2057	c.1446G>A	c.(1444-1446)gcG>gcA	p.A482A	TCF4_ENST00000356073.4_Silent_p.A482A|TCF4_ENST00000564999.1_Silent_p.A482A|TCF4_ENST00000570177.2_Silent_p.A352A|TCF4_ENST00000564403.2_Silent_p.A488A|TCF4_ENST00000567880.1_Silent_p.A422A|TCF4_ENST00000561831.3_Silent_p.A322A|TCF4_ENST00000537578.1_Silent_p.A458A|TCF4_ENST00000544241.2_Silent_p.A411A|TCF4_ENST00000561992.1_Silent_p.A352A|TCF4_ENST00000543082.1_Silent_p.A440A|TCF4_ENST00000568740.1_Silent_p.A457A|TCF4_ENST00000566286.1_Silent_p.A479A|TCF4_ENST00000568673.1_Silent_p.A458A|TCF4_ENST00000565018.2_Silent_p.A482A|TCF4_ENST00000540999.1_Silent_p.A458A|TCF4_ENST00000457482.3_Silent_p.A322A|TCF4_ENST00000564228.1_Silent_p.A411A|TCF4_ENST00000537856.3_Silent_p.A352A|TCF4_ENST00000398339.1_Silent_p.A584A|TCF4_ENST00000566279.1_Silent_p.A422A|TCF4_ENST00000570287.2_Silent_p.A322A	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	482					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAGGGGAAGTCGCAGACTGGA	0.567000											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	91					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117067420	117067420	+	Missense_Mutation	SNP	C	C	T	rs145791114		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:117067420C>T	ENST00000284629.2	-	1	157	c.95G>A	c.(94-96)cGg>cAg	p.R32Q		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	32					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTGAGACGTCCGGTCGAGATA	0.657000													32	104					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458968	179458968	+	Splice_Site	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179458968T>C	ENST00000589042.1	-	297	58376	c.58150_splice	c.e297-1	p.A19384_splice	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.A10319_splice|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.A10444_splice|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.A17743_splice|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.A10511_splice|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.A16816_splice|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17743	Fibronectin type-III 40.						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)			GCGTTGGGGGTGCTAAAATTT	0.393000													3	40					0	0	1	0	0
RAB39A	54734	broad.mit.edu	37	11	107832711	107832711	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:107832711A>G	ENST00000320578.2	+	2	333	c.267A>G	c.(265-267)ggA>ggG	p.G89G		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	89					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding										CAGTTGGTGGATTTTTAGTAT	0.348000													5	29					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64589053	64589053	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:64589053C>T	ENST00000357395.3	+	71	13629	c.2485C>T	c.(2485-2487)Ccc>Tcc	p.P829S	SYNE2_ENST00000344113.4_Missense_Mutation_p.P4444S|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.P829S|SYNE2_ENST00000553455.1_Missense_Mutation_p.P163S|SYNE2_ENST00000358025.3_Missense_Mutation_p.P4444S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.P1078S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4444					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATCTTGTCACCCCAGGGCCA	0.443000													10	42					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104120149	104120149	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:104120149G>A	ENST00000361355.4	+	10	1755	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E	AMY2B_ENST00000491397.1_Intron	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	380					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AATAATAATGGAGTAATTAAA	0.358000													14	315					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179534331	179534331	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179534331G>A	ENST00000589042.1	-	158	35682	c.35458C>T	c.(35458-35460)Cca>Tca	p.P11820S	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9943	Glu-rich.|Pro-rich.						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)			TTAGCTGGTGGAACTTCAGGC	0.333000													20	152					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44869822	44869822	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:44869822G>A	ENST00000372262.3	-	2	730	c.330C>T	c.(328-330)ttC>ttT	p.F110F	CDH22_ENST00000537909.1_Silent_p.F110F	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	110	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGTCGATCAGGAAGATGGTCC	0.617000													8	30					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393845	154393845	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:154393845G>A	ENST00000435029.4	+	1	586	c.426G>A	c.(424-426)gaG>gaA	p.E142E		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	142	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTACTTAGAGATTTACAATG	0.358000													19	83					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19884066	19884066	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19884066G>A	ENST00000300571.2	-	2	293	c.102C>T	c.(100-102)tcC>tcT	p.S34S	GPRC5B_ENST00000535671.1_Silent_p.S34S|GPRC5B_ENST00000569847.1_Silent_p.S34S|GPRC5B_ENST00000569479.1_Silent_p.S34S|GPRC5B_ENST00000537135.1_Silent_p.S60S	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	34										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACAGCCTCGGGATGTGCTGG	0.637000													11	39					0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82422900	82422900	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:82422900G>A	ENST00000268206.7	-	20	3345	c.3177C>T	c.(3175-3177)atC>atT	p.I1059I	EFTUD1_ENST00000359445.3_Silent_p.I1008I	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	1059					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CACTGGGAATGATCTTGTAAA	0.428000													8	72					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70591657	70591657	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:70591657G>A	ENST00000260126.3	-	8	2686	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	SLCO5A1_ENST00000524945.1_Silent_p.F660F|SLCO5A1_ENST00000530307.1_Silent_p.F605F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	660						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATGCTGTGATGAAGGTGACTA	0.423000													9	101					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936573	30936573	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:30936573G>A	ENST00000355537.3	+	2	2251	c.2104G>A	c.(2104-2106)Ggc>Agc	p.G702S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGGGGTCGGAGGCGGCCTCTC	0.687000													3	38					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19455518	19455518	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19455518G>A	ENST00000396229.2	+	4	1653	c.904G>A	c.(904-906)Gag>Aag	p.E302K	TMC5_ENST00000542583.2_Missense_Mutation_p.E302K|TMC5_ENST00000541464.1_Missense_Mutation_p.E302K|TMC5_ENST00000381414.4_Missense_Mutation_p.E302K	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	302						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCATCCATGGAGATGGCAAA	0.483000													6	68					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119244029	119244029	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:119244029G>A	ENST00000260187.2	-	2	456	c.162C>T	c.(160-162)gtC>gtT	p.V54V	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	54	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TGCTGGTGGGGACCGGCTTGA	0.627000													8	75					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516931	157516931	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:157516931C>T	ENST00000361835.3	-	3	266	c.109G>A	c.(109-111)Gga>Aga	p.G37R	FCRL5_ENST00000368190.3_Missense_Mutation_p.G37R|FCRL5_ENST00000368189.3_Missense_Mutation_p.G37R|FCRL5_ENST00000368188.2_Missense_Mutation_p.G37R|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000356953.4_Missense_Mutation_p.G37R	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	37	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACTCTCTCTCCTTGGAAGACT	0.493000													20	96					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79611396	79611396	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:79611396G>A	ENST00000261205.4	+	4	754	c.97G>A	c.(97-99)Gga>Aga	p.G33R	SYT1_ENST00000393240.3_Missense_Mutation_p.G33R|SYT1_ENST00000552744.1_Missense_Mutation_p.G33R|SYT1_ENST00000457153.2_Missense_Mutation_p.G33R	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	33					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AGCCAGTCCTGGAGAAGGAAA	0.468000													13	46					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156964930	156964930	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156964930C>T	ENST00000257527.4	-	4	399	c.321G>A	c.(319-321)cgG>cgA	p.R107R	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Silent_p.R109R|ADAM19_ENST00000517905.1_Silent_p.R107R	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	107					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCCAATTTCCGTGTGGTGG	0.453000													4	56					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612649	179612649	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179612649G>A	ENST00000360870.5	-	46	14700	c.14478C>T	c.(14476-14478)ctC>ctT	p.L4826L	TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	936	Ig-like 28.						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)			GACTCAGGGAGAGCTGTCTAT	0.448000													7	32					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7700570	7700570	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:7700570G>A	ENST00000303635.7	+	7	828	c.621G>A	c.(619-621)gcG>gcA	p.A207A	CAMTA1_ENST00000439411.2_Silent_p.A207A	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	207					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)		AGGAGTGGGCGAAATGGACGA	0.627000			T	WWTR1	epitheliod hemangioendothelioma								24	102					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209348	140209348	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140209348G>A	ENST00000529310.1	+	1	1786	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAGAACGACAA	0.687000													8	126					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767176	57767176	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:57767176G>A	ENST00000371030.2	+	1	1102	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	368						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)					CAGCCTTTCGGAGCACAGCGC	0.756000													11	23					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46921426	46921426	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:46921426C>T	ENST00000378623.1	-	4	660	c.418G>A	c.(418-420)Gat>Aat	p.D140N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	140	LDL-receptor class A 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.D140N(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACTGCTCATCGCTGTTGTCG	0.617000													20	77					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100627975	100627975	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:100627975C>T	ENST00000356421.2	-	3	255	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	AFF3_ENST00000409579.1_Missense_Mutation_p.A38T|AFF3_ENST00000409236.1_Intron|AFF3_ENST00000317233.4_Intron	NM_001025108.1	NP_001020279.1	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	17					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CATCTGCTGGCTGATGACTGA	0.453000													9	127					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62378355	62378355	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:62378355C>T	ENST00000245663.4	-	5	1848	c.1698G>A	c.(1696-1698)aaG>aaA	p.K566K	ZBTB46_ENST00000302995.2_Silent_p.K566K|ZBTB46_ENST00000395104.1_Silent_p.K566K	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTTCCTCATCCTTGTCGTCCG	0.716000													9	47					0	0	1	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638226	234638226	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:234638226G>A	ENST00000482026.1	+	1	473	c.454G>A	c.(454-456)Gac>Aac	p.D152N	UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GGTTTTAACAGACCCCGTTAA	0.448000													12	181					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33592448	33592448	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:33592448G>A	ENST00000228567.3	-	1	306	c.10C>T	c.(10-12)Cac>Tac	p.H4Y	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	4						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCCTCCTTGTGGAAACTCATC	0.542000													15	188					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110588104	110588104	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110588104G>A	ENST00000399066.3	-	6	1741	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	SYBU_ENST00000528647.1_Silent_p.I340I|SYBU_ENST00000422135.1_Silent_p.I341I|SYBU_ENST00000446070.2_Silent_p.I340I|SYBU_ENST00000533895.1_Silent_p.I340I|SYBU_ENST00000276646.9_Silent_p.I341I|SYBU_ENST00000528331.1_Silent_p.I222I|SYBU_ENST00000533171.1_Silent_p.I341I|SYBU_ENST00000419099.1_Silent_p.I340I|SYBU_ENST00000408908.2_Silent_p.I341I|SYBU_ENST00000440310.1_Silent_p.I341I|SYBU_ENST00000529690.1_Silent_p.I211I|SYBU_ENST00000408889.3_Silent_p.I222I|SYBU_ENST00000532779.1_Silent_p.I273I|SYBU_ENST00000433638.1_Silent_p.I341I|SYBU_ENST00000529175.1_Silent_p.I135I|SYBU_ENST00000533065.1_Silent_p.I222I|SYBU_ENST00000424158.2_Silent_p.I346I	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	341	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GCATGGTTTCGATGACCTGTT	0.468000													17	72					0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113704166	113704166	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:113704166C>T	ENST00000374431.3	-	4	711	c.328G>A	c.(328-330)Gga>Aga	p.G110R	LPAR1_ENST00000541779.1_Missense_Mutation_p.G111R|LPAR1_ENST00000358883.4_Missense_Mutation_p.G110R|LPAR1_ENST00000374430.2_Missense_Mutation_p.G110R|LPAR1_ENST00000538760.1_Missense_Mutation_p.G111R	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	110					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GTATTGGGTCCTGTGTTGAAC	0.502000													17	140					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44069556	44069556	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:44069556C>T	ENST00000359947.4	+	16	3073	c.2733C>T	c.(2731-2733)ccC>ccT	p.P911P	PTPRF_ENST00000438120.1_Silent_p.P902P|PTPRF_ENST00000372414.3_Silent_p.P911P|PTPRF_ENST00000372413.3_Silent_p.P902P|PTPRF_ENST00000422171.2_Silent_p.P259P|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	911					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCAGGACCCCCGAGGACCTGC	0.632000													8	42					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582574	55582574	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:55582574C>T	ENST00000361849.3	-	34	5312	c.4918G>A	c.(4918-4920)Gaa>Aaa	p.E1640K	PCDH15_ENST00000395430.1_Missense_Mutation_p.E1635K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1615K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1598K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1638K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1569K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1638					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)				TGCCTTATTTCCTCTTTCTCT	0.398000										HNSCC(58;0.16)			8	98					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151491771	151491771	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:151491771C>T	ENST00000271636.7	+	2	909	c.776C>T	c.(775-777)cCt>cTt	p.P259L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	253	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AACCTGAGTCCTCTCAGTGGC	0.582000													7	73					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42436195	42436195	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:42436195G>A	ENST00000397272.3	-	18	2220	c.2129C>T	c.(2128-2130)tCc>tTc	p.S710F	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.S708F	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	708	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGCTTCCAAGGAATAGTCAAA	0.577000													4	87					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918682	21918682	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:21918682C>T	ENST00000240662.2	-	3	1595	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	417						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GTTTTGATTTCCTTCTGGAGT	0.423000													11	70					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135470257	135470257	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:135470257A>G	ENST00000372159.3	-	20	2703	c.2552T>C	c.(2551-2553)gTt>gCt	p.V851A	DDX31_ENST00000438527.3_Missense_Mutation_p.V722A|DDX31_ENST00000372153.1_Missense_Mutation_p.V778A	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	851						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GAGATTTTAAACTTTCTGGGA	0.498000													15	131					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74828607	74828607	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:74828607G>A	ENST00000412021.2	-	6	793	c.460C>T	c.(460-462)Cca>Tca	p.P154S	P4HA1_ENST00000263556.3_Missense_Mutation_p.P154S|P4HA1_ENST00000440381.1_Missense_Mutation_p.P154S|P4HA1_ENST00000394890.2_Missense_Mutation_p.P154S|P4HA1_ENST00000373008.2_Missense_Mutation_p.P154S|P4HA1_ENST00000307116.2_Missense_Mutation_p.P154S	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	154						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATCTTACCTGGAAGATTACCC	0.378000													8	75					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56410268	56410268	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56410268C>T	ENST00000588751.1	-	10	2849	c.2825G>A	c.(2824-2826)gGa>gAa	p.G942E	NLRP13_ENST00000342929.3_Missense_Mutation_p.G942E			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	942							ATP binding	p.G942E(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGCCAGCTCTCCACAGCCCTC	0.433000													7	79					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32011607	32011607	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:32011607G>A	ENST00000375244.3	-	35	11650	c.11449C>T	c.(11449-11451)Cca>Tca	p.P3817S	TNXB_ENST00000451343.1_Missense_Mutation_p.P246S|TNXB_ENST00000375247.2_Missense_Mutation_p.P3815S			P22105	TENX_HUMAN	tenascin XB	3862	Fibronectin type-III 30.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGAGCGCCTGGGATCAGCCCC	0.627000													34	132					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7095250	7095250	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:7095250G>A	ENST00000399510.2	-	20	2919	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	DLG4_ENST00000302955.6_Silent_p.I643I|DLG4_ENST00000399506.2_Silent_p.I646I	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	646	Guanylate kinase-like.				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						TGAAGATGGCGATGGGGTGCA	0.692000													30	86					0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6452884	6452884	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6452884G>A	ENST00000265983.3	-	9	1216	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	372					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CCATGATATGGAGCCGAGAAG	0.582000													11	56					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221668	118221668	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:118221668C>T	ENST00000402510.2	-	11	3524	c.3525G>A	c.(3523-3525)gaG>gaA	p.E1175E		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1175										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CAGCCATTTTCTCTAGTCGTG	0.458000													10	29					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19653485	19653485	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:19653485G>A	ENST00000284885.3	-	22	2573	c.2540C>T	c.(2539-2541)tCa>tTa	p.S847L		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	847	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGTCAGATTTGATTTCATATG	0.408000													9	122					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691818	49691818	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:49691818C>T	ENST00000296452.4	+	5	4943	c.4829C>T	c.(4828-4830)cCt>cTt	p.P1610L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1610					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCAGAGCCACCTGGGCCACCT	0.642000													3	34					0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48423242	48423242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:48423242G>A	ENST00000296438.5	+	9	1224	c.1038G>A	c.(1036-1038)tgG>tgA	p.W346*	FBXW12_ENST00000445170.1_Nonsense_Mutation_p.W327*|FBXW12_ENST00000436231.1_Nonsense_Mutation_p.W189*|FBXW12_ENST00000415155.1_Nonsense_Mutation_p.W276*|FBXW12_ENST00000468158.1_3'UTR	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	346										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCCTATCTGGATGGGAGCCA	0.443000													6	40					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341549	121341549	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121341549G>A	ENST00000338040.4	+	3	1687	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	425					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ACTGTTCATGGATTTTGCCAC	0.502000													21	101					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6228297	6228297	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:6228297G>A	ENST00000262450.3	-	2	219	c.120C>T	c.(118-120)ttC>ttT	p.F40F	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	40					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCTCCACAGGGAAAAAGTCAT	0.502000													21	178					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85447026	85447026	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:85447026G>A	ENST00000369663.5	-	8	1538	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	401					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.H401Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGCCCCAGATGGAAGGCAGGA	0.577000													12	61					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	56963880	56963880	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:56963880C>A	ENST00000370708.4	+	3	305	c.127C>A	c.(127-129)Ctt>Att	p.L43I	ZNF451_ENST00000357489.3_Missense_Mutation_p.L43I|ZNF451_ENST00000370702.1_Missense_Mutation_p.L43I|ZNF451_ENST00000491832.2_Missense_Mutation_p.L43I|ZNF451_ENST00000370706.4_Missense_Mutation_p.L43I|ZNF451_ENST00000370711.5_3'UTR|ZNF451_ENST00000370710.6_Missense_Mutation_p.L43I	NM_001257273.1	NP_001244202.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACGACCTGTTCTTGAATACAT	0.333000													5	35					0.217242	0.217288	1	1	0
PLCB3	5331	broad.mit.edu	37	11	64024099	64024099	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:64024099C>T	ENST00000540288.1	+	10	978	c.875C>T	c.(874-876)tCc>tTc	p.S292F	PLCB3_ENST00000325234.5_Missense_Mutation_p.S225F|PLCB3_ENST00000279230.6_Missense_Mutation_p.S292F	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	292					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GACCAGATGTCCATGGAGGGC	0.647000													5	53					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466730	56466730	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56466730C>T	ENST00000291971.3	+	3	1377	c.1306C>T	c.(1306-1308)Ccc>Tcc	p.P436S	NLRP8_ENST00000590542.1_Missense_Mutation_p.P436S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	436	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TAGCTTGTTTCCCACCAGAGC	0.488000													12	76					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55047029	55047029	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55047029G>A	ENST00000335056.3	+	4	612	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CCATGCAGGAGCCTACAGATG	0.567000													12	46					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33148110	33148110	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:33148110C>T	ENST00000341947.2	-	12	1512		c.e12-1		COL11A2_ENST00000395197.1_Splice_Site|COL11A2_ENST00000361917.1_Splice_Site|COL11A2_ENST00000374712.1_Splice_Site|COL11A2_ENST00000374708.4_Splice_Site|COL11A2_ENST00000374714.1_Splice_Site|COL11A2_ENST00000357486.1_Splice_Site|COL11A2_ENST00000374713.1_Splice_Site	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2						cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAGGGGGGCCCTGGAGTGGGA	0.502000													17	64					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183853958	183853958	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:183853958C>T	ENST00000304685.3	+	8	1403	c.942C>T	c.(940-942)acC>acT	p.T314T	RGL1_ENST00000367531.1_Silent_p.T314T|RGL1_ENST00000539189.1_Silent_p.T279T|RGL1_ENST00000536277.1_Silent_p.T277T|RGL1_ENST00000360851.3_Silent_p.T279T	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	279	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TCCGTGCCACCATCTCTCAGT	0.473000													4	70					0	0	1	0	0
ROPN1L	83853	broad.mit.edu	37	5	10461428	10461428	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:10461428C>T	ENST00000503804.1	+	5	1071	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S	ROPN1L_ENST00000274134.4_Missense_Mutation_p.P184S|ROPN1L_ENST00000510520.1_3'UTR			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	184					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						AGATGTGTCTCCCTTGGAGAC	0.507000													8	115					0	0	1	0	0
RUNX1	861	broad.mit.edu	37	21	36421162	36421162	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:36421162G>A	ENST00000300305.3	-	1	479	c.35C>T	c.(34-36)tCg>tTg	p.S12L	RUNX1_ENST00000437180.1_Missense_Mutation_p.S12L|RUNX1_ENST00000486278.2_5'UTR			Q01196	RUNX1_HUMAN	runt-related transcription factor 1	0					myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CTGTGGGTACGAAGGAAATGA	0.458000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								10	111					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085591	9085591	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9085591G>A	ENST00000397910.4	-	1	6427	c.6224C>T	c.(6223-6225)tCa>tTa	p.S2075L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2075	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						AGAATGGCCTGAGGACAGTGC	0.463000													6	153					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164737435	164737435	+	Silent	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:164737435C>A	ENST00000264382.3	-	28	3440	c.3378G>T	c.(3376-3378)ctG>ctT	p.L1126L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1126	Sucrase.				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)	TATTCCAGTTCAGATCTCGCT	0.433000										HNSCC(35;0.089)			10	59					0.00829132	0.00832097	1	1	0
HYAL4	23553	broad.mit.edu	37	7	123508731	123508731	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:123508731C>T	ENST00000223026.4	+	3	1042	c.404C>T	c.(403-405)gCt>gTt	p.A135V	HYAL4_ENST00000476325.1_Missense_Mutation_p.A135V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	135					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TACATCCCTGCTGAAGATTTC	0.423000													19	89					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319128	21319128	+	Silent	SNP	C	C	T	rs146165782	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:21319128C>T	ENST00000583088.1	+	3	1369	c.474C>T	c.(472-474)gcC>gcT	p.A158A	KCNJ12_ENST00000331718.5_Silent_p.A158A	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GCCCGGTGGCCGTCTTCATGG	0.622000										Prostate(3;0.18)			5	63					0	0	1	0	0
EDA2R	60401	broad.mit.edu	37	X	65819655	65819655	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:65819655G>A	ENST00000374719.3	-	6	621	c.565C>T	c.(565-567)Ctc>Ttc	p.L189F	EDA2R_ENST00000451436.2_Missense_Mutation_p.L65F|EDA2R_ENST00000450752.1_Missense_Mutation_p.L210F|EDA2R_ENST00000396050.1_Missense_Mutation_p.L189F|EDA2R_ENST00000456230.2_Missense_Mutation_p.L189F|EDA2R_ENST00000253392.5_Missense_Mutation_p.L210F	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	189					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						ACGGGGAAGAGAGATTCCTCC	0.532000													6	11					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596739	142596739	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:142596739C>T	ENST00000370503.2	-	2	414	c.331G>A	c.(331-333)Gag>Aag	p.E111K	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	111										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTTGTCCTCCTTTGAAGGT	0.468000													20	68					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157081161	157081161	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:157081161G>A	ENST00000362010.2	-	9	2034	c.1727C>T	c.(1726-1728)aCc>aTc	p.T576I	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.T576I|VEPH1_ENST00000392832.2_Missense_Mutation_p.T576I|VEPH1_ENST00000543418.1_Missense_Mutation_p.T576I	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	576						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACCTTCAATGGTACACTGATC	0.373000													8	112					0	0	1	0	0
REPIN1	29803	broad.mit.edu	37	7	150069707	150069707	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150069707C>T	ENST00000397281.2	+	4	1866	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Silent_p.F516F|REPIN1_ENST00000540729.1_Silent_p.F459F|REPIN1_ENST00000425389.2_Silent_p.F459F|REPIN1_ENST00000444957.1_Silent_p.F459F	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	459					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ATCGGCCCTTCGTGTGTCCCG	0.736000													4	53					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79517941	79517941	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:79517941G>A	ENST00000537152.1	-	3	651	c.126C>T	c.(124-126)ttC>ttT	p.F42F	C17orf70_ENST00000327787.8_Silent_p.F193F	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	193					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCACTGGAAGGAAGTGGGGGG	0.701000													5	18					0	0	1	0	0
CTAGE9	643854	broad.mit.edu	37	6	132031254	132031254	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:132031254C>T	ENST00000314099.8	-	1	952	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	302						integral to membrane				endometrium(1)|lung(1)	2						GCACCATTTTCCCATTGACTG	0.398000													4	47					0	0	1	0	0
DDAH1	23576	broad.mit.edu	37	1	85816137	85816137	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:85816137G>A	ENST00000284031.8	-	4	652	c.558C>T	c.(556-558)atC>atT	p.I186I	DDAH1_ENST00000535924.2_Silent_p.I83I|DDAH1_ENST00000539042.1_Silent_p.I186I|DDAH1_ENST00000426972.3_Silent_p.I93I|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000542148.1_Silent_p.I86I|RP11-131L23.1_ENST00000427819.1_RNA	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	186					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	ACCCAATTGCGATCAGGTTAG	0.483000													34	143					0	0	1	0	0
GATA4	2626	broad.mit.edu	37	8	11615844	11615844	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:11615844C>T	ENST00000335135.4	+	7	1747	c.1189C>T	c.(1189-1191)Cac>Tac	p.H397Y	GATA4_ENST00000528712.1_Missense_Mutation_p.H191Y|GATA4_ENST00000532059.1_Missense_Mutation_p.H398Y	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	397					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		GCCCTCCATCCACCCTGTCCT	0.602000													12	94					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73658822	73658822	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:73658822G>A	ENST00000420326.2	-	4	667	c.508C>T	c.(508-510)Cgt>Tgt	p.R170C	RECQL5_ENST00000317905.5_Missense_Mutation_p.R170C|RECQL5_ENST00000584999.1_Missense_Mutation_p.R170C|RECQL5_ENST00000340830.5_Missense_Mutation_p.R170C|RECQL5_ENST00000423245.2_Missense_Mutation_p.R143C	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	170	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TAGTCAGGACGAAAGTCATGC	0.612000								Other identified genes with known or suspected DNA repair function					29	163					0	0	1	0	0
SVOPL	136306	broad.mit.edu	37	7	138312939	138312939	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:138312939G>A	ENST00000421622.1	-	7	881	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	SVOPL_ENST00000288513.5_Missense_Mutation_p.R193W|SVOPL_ENST00000436657.1_Missense_Mutation_p.R193W|SVOPL_ENST00000419765.3_Missense_Mutation_p.R345W			Q8N434	SVOPL_HUMAN	SVOP-like	345						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						ATCATGGTCCGATAGTCAGAG	0.547000													5	64					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579081	44579081	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:44579081G>A	ENST00000289547.4	-	2	970	c.915C>T	c.(913-915)ttC>ttT	p.F305F	NPC1L1_ENST00000546276.1_Silent_p.F305F|NPC1L1_ENST00000423141.1_Silent_p.F305F|NPC1L1_ENST00000381160.3_Silent_p.F305F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	305					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)	GGGCCACACGGAATCCCACAA	0.602000													8	100					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106016288	106016288	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:106016288C>T	ENST00000255499.2	+	2	880	c.630C>T	c.(628-630)ttC>ttT	p.F210F	RNF128_ENST00000324342.3_Silent_p.F184F	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	210						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CAATTTTTTTCGTTTCTGTGT	0.393000													14	42					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118183326	118183326	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:118183326G>A	ENST00000427715.2	+	10	1170	c.736G>A	c.(736-738)Gac>Aac	p.D246N	SLC30A8_ENST00000519688.1_Missense_Mutation_p.D246N|SLC30A8_ENST00000521243.1_Missense_Mutation_p.D246N|SLC30A8_ENST00000456015.2_Missense_Mutation_p.D295N	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	295					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTTAGCAGTCGACGGGGTGCT	0.443000													5	76					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488310	108488310	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:108488310C>T	ENST00000408999.3	+	20	3927	c.3850C>T	c.(3850-3852)Cat>Tat	p.H1284Y	RGPD4_ENST00000354986.4_Missense_Mutation_p.H1284Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1284					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAATCTTTTCCATTTTGGTGA	0.408000													42	258					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73478005	73478005	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:73478005C>T	ENST00000252034.7	+	29	2372	c.1973C>T	c.(1972-1974)cCa>cTa	p.P658L	ELN_ENST00000320399.6_Missense_Mutation_p.P691L|ELN_ENST00000320492.7_Missense_Mutation_p.P577L|ELN_ENST00000380553.4_Missense_Mutation_p.P522L|ELN_ENST00000358929.4_Missense_Mutation_p.P726L|ELN_ENST00000380584.4_Missense_Mutation_p.P610L|ELN_ENST00000429192.1_Missense_Mutation_p.P644L|ELN_ENST00000458204.1_Missense_Mutation_p.P648L|ELN_ENST00000414324.1_Missense_Mutation_p.P634L|ELN_ENST00000380562.4_Missense_Mutation_p.P664L|ELN_ENST00000380575.4_Missense_Mutation_p.P629L|ELN_ENST00000380576.5_Missense_Mutation_p.P639L|ELN_ENST00000357036.5_Missense_Mutation_p.P663L|ELN_ENST00000445912.1_Missense_Mutation_p.P658L	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	720	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTTGGAGTTCCAGGTGTTGGG	0.572000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						8	87					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37307481	37307481	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:37307481G>A	ENST00000373091.3	-	10	1402	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	GRIK3_ENST00000373093.4_Silent_p.F462F	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	462					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGTAGCCCTCGAACCGGTCAT	0.572000													39	140					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70049357	70049357	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:70049357C>T	ENST00000370598.1	+	26	4241	c.3420C>T	c.(3418-3420)ggC>ggT	p.G1140G	BAI3_ENST00000546190.1_Silent_p.G104G|BAI3_ENST00000238918.8_Silent_p.G346G	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1140					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CATTGCAAGGCTTTGTTATAG	0.423000													23	115					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16907354	16907354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16907354G>A	ENST00000430580.2	-	16	2364	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	493	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTGTGAGGCTGGTTGGAGTCA	0.488000													48	1803					0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48888608	48888608	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:48888608G>A	ENST00000314014.2	+	8	401	c.270G>A	c.(268-270)atG>atA	p.M90I	C12orf54_ENST00000548364.1_Missense_Mutation_p.M90I|RP11-722P11.4_ENST00000551847.1_RNA	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	90										endometrium(1)|large_intestine(4)	5						ATTCCTTGATGACCCCAAAGT	0.483000													6	103					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957327	35957327	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:35957327C>T	ENST00000274278.3	-	5	1395	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A1_ENST00000503189.1_Silent_p.V346V|UGT3A1_ENST00000507113.1_Silent_p.V312V|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	346						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAATTTTCACATTTGTGG	0.488000													4	47					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74275124	74275124	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:74275124C>T	ENST00000295897.4	+	5	624	c.535C>T	c.(535-537)Ctt>Ttt	p.L179F	ALB_ENST00000401494.3_Missense_Mutation_p.L64F|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.L179F|ALB_ENST00000503124.1_Missense_Mutation_p.L29F|ALB_ENST00000415165.2_Intron	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	179	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CCCGGAACTCCTTTTCTTTGC	0.353000													9	47					0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64225435	64225435	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:64225435C>T	ENST00000205948.6	-	1	100	c.64_splice	c.e1+1	p.R21_splice		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	21	Sushi 1.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			AGTACTTACTCCGTCCTGCAA	0.418000													4	19					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408535	29408535	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29408535C>T	ENST00000444197.2	+	1	1453	c.743C>T	c.(742-744)tCc>tTc	p.S248F	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATCATGGTCTCCCTCTTCTAT	0.587000													49	334					0	0	1	0	0
RP11-159L20.2	0	broad.mit.edu	37	14	31290715	31290715	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:31290715C>T	ENST00000554665.1	-	0	208																											AAGCTGTCATCGTGAAGAACA	0.522000													8	28					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55748300	55748300	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:55748300T>G	ENST00000395863.3	-	6	1607	c.1102A>C	c.(1102-1104)Aac>Cac	p.N368H	BMP7_ENST00000395864.3_Missense_Mutation_p.N302H|BMP7_ENST00000450594.2_Missense_Mutation_p.N368H|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	368					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			ATGTAGGAGTTCAGAGGGAAG	0.627000													8	46					0	0	1	0	0
RGS7BP	401190	broad.mit.edu	37	5	63890625	63890625	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:63890625C>T	ENST00000334025.2	+	4	878	c.552C>T	c.(550-552)tcC>tcT	p.S184S		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	184					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CCTCATCATCCCCCGTAGATA	0.498000													7	82					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2074804	2074804	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:2074804G>A	ENST00000280665.6	-	5	521	c.442C>T	c.(442-444)Cca>Tca	p.P148S	DCP1B_ENST00000540622.1_Missense_Mutation_p.P22S|DCP1B_ENST00000397173.4_Missense_Mutation_p.P46S|DCP1B_ENST00000541700.1_Intron	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	148					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGGATCACTGGGGAAATTCCT	0.438000													4	35					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17779260	17779260	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:17779260G>A	ENST00000378814.5	-	32	3970	c.3971C>T	c.(3970-3972)tCa>tTa	p.S1324L	KIF13A_ENST00000259711.6_Missense_Mutation_p.S1337L|KIF13A_ENST00000378816.5_Missense_Mutation_p.S1337L|KIF13A_ENST00000378843.2_Missense_Mutation_p.S1324L|KIF13A_ENST00000378826.2_Missense_Mutation_p.S1337L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1337					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTCCCCATCTGATGTGCCTTC	0.517000													3	32					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33504138	33504138	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:33504138C>T	ENST00000268876.5	+	16	2231	c.2134C>T	c.(2134-2136)Cct>Tct	p.P712S	UNC45B_ENST00000378449.1_Missense_Mutation_p.P631S|UNC45B_ENST00000394570.2_Missense_Mutation_p.P710S|UNC45B_ENST00000591048.1_Missense_Mutation_p.P631S|UNC45B_ENST00000433649.1_Missense_Mutation_p.P710S	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	712					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)				CATTGCTTTTCCTGGGGAGCG	0.577000													14	42					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96581894	96581894	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:96581894C>A	ENST00000456556.1	-	37	2457	c.2373G>T	c.(2371-2373)ttG>ttT	p.L791F	ANKRD36C_ENST00000420871.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR|ANKRD36C_ENST00000419039.2_5'UTR					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCATTACCTTCAAGGCTGGTT	0.338000													5	21					1.23904e-05	1.24873e-05	1	1	0
FAM47A	158724	broad.mit.edu	37	X	34148247	34148247	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:34148247G>A	ENST00000346193.3	-	1	2200	c.2149C>T	c.(2149-2151)Ccc>Tcc	p.P717S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	717										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						AAGAGCTTGGGGTCAATCAAA	0.408000													23	42					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16261757	16261757	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16261757C>T	ENST00000375759.3	+	11	9226	c.9022C>T	c.(9022-9024)Cca>Tca	p.P3008S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3008					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCCCAGCATCCCAGCAGATCG	0.617000													13	69					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2321084	2321084	+	Missense_Mutation	SNP	C	C	T	rs147532262		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:2321084C>T	ENST00000381458.5	+	13	2002	c.1939C>T	c.(1939-1941)Ccg>Tcg	p.P647S		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	647					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)	CATCAGCGTGCCGACCCTAGG	0.612000													7	92					0	0	1	0	0
BAX	581	broad.mit.edu	37	19	49464300	49464300	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49464300C>T	ENST00000293288.8	+	5	603	c.603C>T	c.(601-603)ctC>ctT	p.L201L	BAX_ENST00000345358.7_Intron|BAX_ENST00000391871.3_Intron|BAX_ENST00000354470.3_Intron|BAX_ENST00000539787.1_Intron|BAX_ENST00000415969.2_Intron	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	0					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GGTGCCCTCTCCCCATCTTCA	0.612000													16	68					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70977783	70977783	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:70977783C>T	ENST00000393567.2	-	42	6751	c.6601G>A	c.(6601-6603)Gag>Aag	p.E2201K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2201										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)				AGCCCGGTCTCGCCTCCGACA	0.617000													4	16					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176314545	176314545	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:176314545G>A	ENST00000292432.5	-	11	1598	c.1507C>T	c.(1507-1509)Cag>Tag	p.Q503*		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	503	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCGCATCTGTGCCTGAACC	0.677000													11	39					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66707833	66707833	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:66707833C>T	ENST00000247815.4	+	5	1807	c.1748C>T	c.(1747-1749)tCg>tTg	p.S583L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	583					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAATTTTCTTCGGTTAGAGTT	0.378000													10	73					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110168320	110168320	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:110168320C>T	ENST00000256578.3	+	3	781	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	AMPD2_ENST00000342115.4_Missense_Mutation_p.R60C|AMPD2_ENST00000358729.4_Missense_Mutation_p.R66C|AMPD2_ENST00000393688.3_Missense_Mutation_p.R22C|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Missense_Mutation_p.R141C|AMPD2_ENST00000528454.1_Missense_Mutation_p.R23C	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	141					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGCGAGCTCCGTAGTGCCCC	0.652000													10	65					0	0	1	0	0
ROGDI	79641	broad.mit.edu	37	16	4849730	4849730	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:4849730C>T	ENST00000322048.7	-	6	767	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	ROGDI_ENST00000586336.1_5'UTR	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	130						intracellular				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						GCTCTGGTCCCGGCTGGTAAG	0.612000													4	21					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865198	118865198	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:118865198G>A	ENST00000295622.1	+	1	202	c.162G>A	c.(160-162)caG>caA	p.Q54Q		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	54										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TAGCTGACCAGACTGCCCTAA	0.527000													3	37					0	0	1	0	0
TMEM62	80021	broad.mit.edu	37	15	43473430	43473430	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:43473430C>T	ENST00000260403.2	+	13	1817	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	TMEM62_ENST00000569369.1_3'UTR|EPB42_ENST00000563128.1_Intron	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	513						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TGCTGCTTTTCCTTTGGGATA	0.338000													16	133					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142572917	142572917	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142572917C>T	ENST00000359396.3	-	9	1368	c.1122_splice	c.e9-1	p.E375_splice		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	375					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATGTAGGCTTCCTAATGGGGG	0.532000													9	60					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36089966	36089966	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:36089966C>A	ENST00000378660.1	+	3	256	c.68C>A	c.(67-69)aCt>aAt	p.T23N	CHDC2_ENST00000313548.4_Missense_Mutation_p.T23N					calponin homology domain containing 2																		CTTAAGAAGACTAGAGATGGT	0.373000													8	9					3.09899e-07	3.12916e-07	1	1	0
TMF1	7110	broad.mit.edu	37	3	69097638	69097638	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:69097638G>A	ENST00000543976.1	-	2	464	c.218C>T	c.(217-219)cCa>cTa	p.P73L	TMF1_ENST00000398559.2_Missense_Mutation_p.P73L|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	73					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GGCTATTGGTGGACTCTGAGG	0.428000													8	102					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57714429	57714429	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:57714429G>A	ENST00000333493.4	+	8	942	c.781G>A	c.(781-783)Gac>Aac	p.D261N	GPR97_ENST00000327655.6_Missense_Mutation_p.D51N|GPR97_ENST00000450388.3_Missense_Mutation_p.D141N	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	261	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCCACCTTGGACCAGTCCAC	0.597000													9	34					0	0	1	0	0
MUC1	4582	broad.mit.edu	37	1	155159934	155159934	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:155159934G>A	ENST00000368395.1	-	6	1271	c.1200C>T	c.(1198-1200)gcC>gcT	p.A400A	MUC1_ENST00000438413.1_Silent_p.A154A|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000337604.5_Silent_p.A198A|MUC1_ENST00000368398.3_Silent_p.A155A|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000338684.5_Silent_p.A149A|MUC1_ENST00000343256.5_Silent_p.A128A|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368392.3_Silent_p.A189A|MUC1_ENST00000457295.2_Silent_p.A189A|MUC1_ENST00000368390.3_Silent_p.A180A|MUC1_ENST00000342482.4_Silent_p.A91A	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1180	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACTCACCAAGGCAATGAGAT	0.622000			T	IGH@	B-NHL								10	67					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123369869	123369869	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:123369869C>T	ENST00000275162.4	+	4	2002	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	CLVS2_ENST00000368438.1_Missense_Mutation_p.R77W	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	223	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						GGAGAAAACTCGGAAAAGGGT	0.378000													11	75					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39788363	39788363	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:39788363C>T	ENST00000564288.1	+	32	4890	c.4113C>T	c.(4111-4113)tcC>tcT	p.S1371S	MACF1_ENST00000567887.1_Silent_p.S1408S|MACF1_ENST00000539005.1_Silent_p.S1376S|MACF1_ENST00000372915.3_Silent_p.S1376S|MACF1_ENST00000545844.1_Silent_p.S1376S|MACF1_ENST00000361689.2_Silent_p.S1376S|MACF1_ENST00000317713.7_Silent_p.S1376S|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1376					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCATGCTTTCCTCTTCAGATG	0.478000													21	67					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118657993	118657993	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:118657993C>T	ENST00000336338.5	-	4	452	c.387G>A	c.(385-387)ttG>ttA	p.L129L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	129	Lys-rich.					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)		GTTGAAATTTCAAGAGTTTCC	0.378000													7	60					0	0	1	0	0
TOB1	10140	broad.mit.edu	37	17	48941183	48941183	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48941183G>A	ENST00000499247.2	-	2	629	c.196C>T	c.(196-198)Cca>Tca	p.P66S	TOB1_ENST00000268957.3_Missense_Mutation_p.P66S|TOB1_ENST00000509385.1_5'UTR	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	66					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCAATCACTGGGTCCACTTTC	0.433000													10	131					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44116454	44116454	+	Silent	SNP	G	G	A	rs139663254		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:44116454G>A	ENST00000262419.6	-	9	2801	c.2331C>T	c.(2329-2331)ccC>ccT	p.P777P	KANSL1_ENST00000572904.1_Silent_p.P777P|KANSL1_ENST00000432791.1_Silent_p.P777P|KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000574590.1_Silent_p.P777P	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	777						MLL1 complex	protein binding										GGTCATGCACGGGTGGTGGTG	0.582000													9	134					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23321935	23321935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:23321935C>T	ENST00000298032.5	+	18	2476	c.2392C>T	c.(2392-2394)Cga>Tga	p.R798*	ARMC3_ENST00000376528.4_Nonsense_Mutation_p.R535*|ARMC3_ENST00000409983.3_Nonsense_Mutation_p.R791*	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	798							binding	p.R798*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTCTACCATCGAGCTTTGCT	0.363000													4	44					0	0	1	0	0
CLDN10	9071	broad.mit.edu	37	13	96229504	96229504	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:96229504C>T	ENST00000376873.3	+	4	708	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	CLDN10_ENST00000299339.2_Silent_p.L162L	NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	162					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			AGGAGCCGCTCTGTTTATTGG	0.378000													5	37					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100192761	100192761	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100192761G>A	ENST00000241071.6	+	7	1311	c.989G>A	c.(988-990)gGg>gAg	p.G330E	FBXO24_ENST00000468962.1_Missense_Mutation_p.G318E|FBXO24_ENST00000465843.1_Intron|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.G368E|FBXO24_ENST00000360609.2_Intron	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	330						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CATACCCCAGGGGTGTATCGC	0.602000													21	74					0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583685	10583685	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:10583685G>T	ENST00000304501.1	-	2	808	c.730C>A	c.(730-732)Ccg>Acg	p.P244T	SOX7_ENST00000554914.1_Missense_Mutation_p.P296T|SOX7_ENST00000553390.1_Missense_Mutation_p.P296T	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	244					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GCGTACTCCGGTGAGTACGGG	0.697000													9	49					0.000442599	0.000444838	1	1	0
XIST	7503	broad.mit.edu	37	X	73064710	73064710	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73064710C>T	ENST00000429829.1	-	0	7878					NR_001564.2																						CTTGACTGTCCAAATGTAAGG	0.502000													6	38					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100385644	100385644	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100385644C>T	ENST00000542585.1	+	0	7258				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGGAGCCCCTCCTCGTGGAAG	0.552000													4	75					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537629	55537629	+	Missense_Mutation	SNP	G	G	A	rs141279458	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:55537629G>A	ENST00000220676.1	+	4	1335	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	396					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)			CCTATGGAGCGAAGCAGTAAT	0.433000													6	43					0	0	1	0	0
LIM2	3982	broad.mit.edu	37	19	51883792	51883792	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51883792C>T	ENST00000221973.3	-	4	595	c.553G>A	c.(553-555)Ggc>Agc	p.G185S	LIM2_ENST00000596399.1_Missense_Mutation_p.G143S	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	143					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		GCCACCCAGCCCAGGATGTAG	0.607000													28	189					0	0	1	0	0
CCSAP	126731	broad.mit.edu	37	1	229462600	229462600	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:229462600G>A	ENST00000284617.2	-	3	645	c.521C>T	c.(520-522)tCg>tTg	p.S174L	CCSAP_ENST00000366686.1_Missense_Mutation_p.S60L|CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000366687.1_Missense_Mutation_p.S174L	NM_145257.3	NP_660300.3			centriole, cilia and spindle-associated protein																		TATTTTACTCGATGATCTTTG	0.463000													11	135					0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48736792	48736792	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:48736792G>A	ENST00000544117.2	-	6	1989	c.1281C>T	c.(1279-1281)ccC>ccT	p.P427P	ZNF641_ENST00000547026.1_Silent_p.P413P|ZNF641_ENST00000448928.3_Silent_p.P404P|ZNF641_ENST00000301042.3_Silent_p.P427P			Q96N77	ZN641_HUMAN	zinc finger protein 641	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						AGCTGTTCCGGGGACTTTGTC	0.552000													9	70					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431416	56431416	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56431416C>T	ENST00000302969.2	+	1	279	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	85					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						TGGCTGACTTCCTAACAAATC	0.493000													32	158					0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567852	45567852	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:45567852C>T	ENST00000256692.5	-	0	833					NR_037144.1													p.T99T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGCTCAACTCCGTTTGCCTTT	0.373000													9	55					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35122509	35122509	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:35122509C>T	ENST00000381318.3	+	6	696	c.408C>T	c.(406-408)tcC>tcT	p.S136S	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399338.4_Silent_p.S136S|ITSN1_ENST00000399349.1_Silent_p.S136S|ITSN1_ENST00000379960.5_Silent_p.S136S|ITSN1_ENST00000399355.2_Silent_p.S136S|ITSN1_ENST00000381291.4_Silent_p.S136S|ITSN1_ENST00000437442.2_Silent_p.S136S|ITSN1_ENST00000399353.1_Intron|ITSN1_ENST00000399367.3_Silent_p.S136S|ITSN1_ENST00000399326.3_Silent_p.S136S|ITSN1_ENST00000381285.4_Silent_p.S136S|ITSN1_ENST00000399352.1_Silent_p.S136S	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	136					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAATGGGATCCATTCCAGTTG	0.522000													3	43					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22924275	22924275	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22924275G>A	ENST00000514473.2	-	0	225				TRDJ4_ENST00000390474.1_RNA																							GAACCTATCTGGAGGTACAAC	0.418000													5	33					0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66538259	66538259	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:66538259C>T	ENST00000592554.1	-	7	1698	c.976G>A	c.(976-978)Gag>Aag	p.E326K	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	326						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					ACAGCATACTCCGTCTTGCAC	0.607000													12	51					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975117	44975117	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:44975117G>A	ENST00000340446.4	-	1	1365	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	358	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTTCTGAAGGGGACTCTTCAG	0.493000													40	100					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52775309	52775309	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:52775309C>T	ENST00000257951.3	-	5	979	c.912_splice	c.e5-1	p.E305_splice	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	305	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACTGGATTTCCTGTGTTGGA	0.542000													6	97					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101706710	101706710	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:101706710A>G	ENST00000409318.1	-	2	374	c.244T>C	c.(244-246)Tta>Cta	p.L82L	TBC1D8_ENST00000376840.4_Intron	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	80					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCATTCAGTAACTCACCACAT	0.478000													3	20					0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47689679	47689679	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:47689679C>T	ENST00000371883.3	-	3	1120	c.544G>A	c.(544-546)Gat>Aat	p.D182N	TAL1_ENST00000371884.2_Missense_Mutation_p.D180N|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000294339.3_Missense_Mutation_p.D180N			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	180					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GACTCACCATCAGTAATCTCC	0.567000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								11	194					0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82443887	82443887	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:82443887G>A	ENST00000268206.7	-	18	3076	c.2908C>T	c.(2908-2910)Cgc>Tgc	p.R970C	EFTUD1_ENST00000359445.3_Missense_Mutation_p.R919C	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	970					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGTGCATAGCGACATGCTTCT	0.478000													23	102					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117180273	117180273	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:117180273G>A	ENST00000003084.6	+	8	1121	c.989G>A	c.(988-990)gGa>gAa	p.G330E	CFTR_ENST00000454343.1_Missense_Mutation_p.G330E	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	330	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTAATCAAAGGAATCATCCTC	0.463000									Cystic Fibrosis				15	68					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36109359	36109359	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:36109359C>T	ENST00000203166.5	+	11	902	c.877C>T	c.(877-879)Ctc>Ttc	p.L293F	HAUS5_ENST00000379045.2_Intron	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	293					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CATGGTTCATCTCATCCAGGT	0.627000													6	64					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82876171	82876171	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:82876171C>T	ENST00000265077.3	+	15	10674	c.10109C>T	c.(10108-10110)tCc>tTc	p.S3370F	VCAN_ENST00000343200.5_Missense_Mutation_p.S2383F|VCAN_ENST00000342785.4_Missense_Mutation_p.S1616F|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Missense_Mutation_p.S1568F|VCAN_ENST00000502527.2_Missense_Mutation_p.S629F	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3370					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTTAAAAATTCCTCATCAGCA	0.388000													3	32					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437145	120437145	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:120437145C>T	ENST00000369400.1	-	1	1973	c.1815G>A	c.(1813-1815)atG>atA	p.M605I		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	605	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CATCATTTATCATACCTAGGT	0.433000													11	134					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537115	5537115	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5537115G>A	ENST00000380184.1	-	1	820	c.557C>T	c.(556-558)tCc>tTc	p.S186F	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	186										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTCCATGTTGGACAGAAGCCG	0.483000													8	97					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119054068	119054068	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:119054068C>T	ENST00000409109.1	+	10	3435	c.2848C>T	c.(2848-2850)Cct>Tct	p.P950S	NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409991.1_Missense_Mutation_p.P950S|NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000292199.2_Missense_Mutation_p.P950S|NLRX1_ENST00000525863.1_Intron			Q86UT6	NLRX1_HUMAN	NLR family member X1	950	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CACCCTTAATCCTTGGCGCAA	0.642000													8	62					0	0	1	0	0
CCM2L	140706	broad.mit.edu	37	20	30610518	30610518	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:30610518G>A	ENST00000300415.8	+	6	1002	c.989G>A	c.(988-990)gGg>gAg	p.G330E	CCM2L_ENST00000262659.8_Missense_Mutation_p.G330E					cerebral cavernous malformation 2-like																		ATCATCTACGGGGACCAGAGT	0.592000													7	81					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536045	27536045	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:27536045C>T	ENST00000574842.1	+	0	255																											ACTCGGGTCTCCTAAAGATGA	0.403000													4	24					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55399627	55399627	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55399627C>T	ENST00000355524.3	+	4	625	c.615C>T	c.(613-615)tcC>tcT	p.S205S	FCAR_ENST00000482092.2_Intron|FCAR_ENST00000391725.3_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000353758.4_Silent_p.S96S|FCAR_ENST00000469767.1_Silent_p.S205S|FCAR_ENST00000359272.4_Silent_p.S193S|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000345937.4_Intron	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	205					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		ACCTGTGGTCCTTCCCCAGTA	0.597000													4	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179499245	179499245	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179499245C>T	ENST00000589042.1	-	230	42487	c.42263G>A	c.(42262-42264)gGa>gAa	p.G14088E	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G5023E|TTN_ENST00000359218.5_Missense_Mutation_p.G5148E|TTN_ENST00000591111.1_Missense_Mutation_p.G12447E|TTN_ENST00000342175.6_Missense_Mutation_p.G5215E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G11520E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12447	Fibronectin type-III 1.						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)			TATATCAGGTCCTTTGGACCA	0.413000													4	78					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306202	54306202	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:54306202G>A	ENST00000545554.1	+	1	1102	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	UNC13C_ENST00000260323.11_Missense_Mutation_p.D368N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D368N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	368					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACACCAGAGAGACTGCCCAAA	0.388000													5	56					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803561	185803561	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:185803561C>T	ENST00000302277.6	+	4	4032	c.3438C>T	c.(3436-3438)ctC>ctT	p.L1146L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1146						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						TACCTCAGCTCTCAGTAGGAC	0.517000													15	101					0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62724141	62724141	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:62724141C>T	ENST00000349451.3	+	4	480	c.68C>T	c.(67-69)tCc>tTc	p.S23F	OPRL1_ENST00000336866.2_Missense_Mutation_p.S23F|OPRL1_ENST00000355631.4_Missense_Mutation_p.S23F	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	23					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GGCAACCTGTCCCTCCTGAGC	0.647000													16	109					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26179268	26179268	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:26179268G>A	ENST00000264712.3	-	2	2170	c.1591C>T	c.(1591-1593)Cac>Tac	p.H531Y	KIF3C_ENST00000405914.1_Missense_Mutation_p.H531Y	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	531					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGTTGGTGTGATCCATGATG	0.587000													6	35					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79032310	79032310	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:79032310C>T	ENST00000446378.2	+	2	7753	c.7722C>T	c.(7720-7722)atC>atT	p.I2574I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2574						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATCAGATATCTCTTTAGGTC	0.398000													3	6					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179490104	179490104	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179490104C>T	ENST00000589042.1	-	241	44668	c.44444G>A	c.(44443-44445)gGa>gAa	p.G14815E	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G5750E|TTN_ENST00000359218.5_Missense_Mutation_p.G5875E|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G13174E|TTN_ENST00000342175.6_Missense_Mutation_p.G5942E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G12247E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13174	Fibronectin type-III 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G12247E(2)|p.G5875E(1)|p.G5750E(1)|p.G5942E(1)		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)			ATGAACTTTTCCTTCTGAACG	0.353000													11	142					0	0	1	0	0
C15orf59	388135	broad.mit.edu	37	15	74032779	74032779	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:74032779G>A	ENST00000569673.1	-	3	1565	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S	C15orf59_ENST00000379822.4_Missense_Mutation_p.P121S|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	121								p.P121S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGTCCGAGGGGGTAGAGACG	0.637000													17	126					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106139922	106139922	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:106139922C>T	ENST00000369704.3	+	9	1443	c.1309C>T	c.(1309-1311)Cat>Tat	p.H437Y	CCDC147_ENST00000312902.5_Missense_Mutation_p.H59Y|CCDC147_ENST00000369703.1_Missense_Mutation_p.H59Y	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	437										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GATCATCTTTCATCTGGAAAA	0.493000													4	93					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46900704	46900704	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:46900704G>A	ENST00000378623.1	-	21	3219	c.2977C>T	c.(2977-2979)Cat>Tat	p.H993Y		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	993					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGGAAGACATGGATGTCCATT	0.612000													31	217					0	0	1	0	0
P2RX4	5025	broad.mit.edu	37	12	121659960	121659960	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:121659960C>T	ENST00000337233.4	+	4	726	c.418C>T	c.(418-420)Cac>Tac	p.H140Y	P2RX4_ENST00000543171.1_Missense_Mutation_p.H39Y|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000541532.1_Missense_Mutation_p.H140Y|P2RX4_ENST00000359949.7_Missense_Mutation_p.H156Y	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	140					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCCGGCACCCACAGCAACGG	0.572000													6	100					0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72673353	72673353	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:72673353G>A	ENST00000373514.2	+	2	503	c.502_splice	c.e2-1	p.G168_splice		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	168						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CTCCTAACAGGGAAAACCAGG	0.368000													3	15					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973377	29973377	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:29973377G>A	ENST00000378993.1	+	11	2204	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E511K	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	511	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GATTCTAATTGAATGCAGTGA	0.448000													19	31					0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156468501	156468501	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:156468501G>A	ENST00000405335.1	+	9	1205	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000432459.2_Missense_Mutation_p.E266K|RNF32_ENST00000317955.5_Missense_Mutation_p.E266K|RNF32_ENST00000392743.2_Missense_Mutation_p.E266K|RNF32_ENST00000343665.4_Missense_Mutation_p.E242K|RNF32_ENST00000311822.8_Missense_Mutation_p.E266K			Q9H0A6	RNF32_HUMAN	ring finger protein 32	266						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TCAGCAGTTGGAAGAAAAATG	0.493000													32	107					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004554	102004554	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:102004554C>T	ENST00000372735.1	+	4	1216	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S	BHLHB9_ENST00000447531.1_Missense_Mutation_p.P211S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.P211S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.P211S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.P211S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	211						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAAAAATAGGCCCAAGGACTG	0.468000													46	161					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137708471	137708471	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:137708471C>T	ENST00000314358.5	+	2	501	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C		NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	101					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATGGGCGCCCCGTGAGGACCC	0.522000													6	36					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156308	155156308	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:155156308C>T	ENST00000357232.3	-	25	8130	c.8131G>A	c.(8131-8133)Gaa>Aaa	p.E2711K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2711					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E2711K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGATCTCCTTCCCCAAATGTT	0.532000													13	45					0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173780289	173780289	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:173780289G>A	ENST00000356198.2	-	3	434	c.149C>T	c.(148-150)cCc>cTc	p.P50L	CENPL_ENST00000367710.3_Missense_Mutation_p.P50L|CENPL_ENST00000345664.6_Missense_Mutation_p.P50L	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	50					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						CGAACACTGGGGAATTTTCCT	0.393000													7	115					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213183	9213183	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9213183G>A	ENST00000305456.2	-	1	799	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GAGAACAATGGAGAGGTGAGA	0.463000													9	64					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080741	5080741	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5080741G>A	ENST00000321522.2	-	1	116	c.117C>T	c.(115-117)atC>atT	p.I39I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTATGAGTGCGATCATGTACA	0.512000													11	34					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26510298	26510298	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:26510298C>T	ENST00000531191.1	+	8	1065	c.58C>T	c.(58-60)Ccg>Tcg	p.P20S	CNKSR1_ENST00000374253.5_Missense_Mutation_p.P285S|CNKSR1_ENST00000361530.6_Missense_Mutation_p.P278S			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	285	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGAAGATCCCGATACCGGA	0.657000													6	76					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158582715	158582715	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158582715G>A	ENST00000368148.3	-	51	7206	c.7026C>T	c.(7024-7026)ttC>ttT	p.F2342F	SPTA1_ENST00000368147.3_Silent_p.F2339F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2342	EF-hand 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTCAATCAGGAAAGCAGTAT	0.458000													8	36					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11097537	11097537	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:11097537G>A	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)		caacaagaacgaaactcACAG	0.557000													6	22					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982983	57982983	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:57982983C>T	ENST00000309433.6	+	1	767	c.767C>T	c.(766-768)tCt>tTt	p.S256F		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ACTTGTGGCTCTCACCTGACA	0.483000													5	59					0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349554	103349554	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:103349554G>A	ENST00000357421.4	-	2	567	c.387C>T	c.(385-387)gcC>gcT	p.A129A		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	129					transport	integral to membrane|mitochondrial inner membrane											TGAGTGCCACGGCCTCCACCA	0.572000													29	92					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136969	40136969	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:40136969G>A	ENST00000278198.2	-	2	2837	c.874C>T	c.(874-876)Cat>Tat	p.H292Y	LRRC4C_ENST00000530763.1_Missense_Mutation_p.H292Y|LRRC4C_ENST00000528697.1_Missense_Mutation_p.H292Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H292Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	292					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CGCTCTAGATGATGCAAGGGA	0.468000													11	141					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33807119	33807119	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:33807119C>T	ENST00000260908.7	-	2	227	c.110G>A	c.(109-111)gGa>gAa	p.G37E	SLFN12L_ENST00000361112.4_Missense_Mutation_p.G66E|SLFN12L_ENST00000449046.1_Missense_Mutation_p.G68E	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	69						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						AGTGACTCTTCCCACATTTAG	0.398000													3	20					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20994180	20994180	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20994180C>T	ENST00000261383.3	-	49	7721	c.7722G>A	c.(7720-7722)agG>agA	p.R2574R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2574	AAA 4 (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)		GCAGGCGGTTCCTGAAGGCAT	0.507000													16	76					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584699	82584699	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82584699G>A	ENST00000423517.2	-	5	5907	c.5570C>T	c.(5569-5571)tCt>tTt	p.S1857F	PCLO_ENST00000333891.8_Missense_Mutation_p.S1857F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1788					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						TGAATATTCAGAACAAGAAGA	0.408000													20	118					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995137	140995137	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140995137G>A	ENST00000285879.4	+	4	2233	c.1947G>A	c.(1945-1947)caG>caA	p.Q649Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	649							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)					AGAGTTCTCAGAGTCCTCCTG	0.577000										HNSCC(15;0.026)			42	231					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51747049	51747049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:51747049G>A	ENST00000395052.3	+	3	1245	c.1011G>A	c.(1009-1011)tgG>tgA	p.W337*	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Nonsense_Mutation_p.W337*	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	337					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TGGACCCTTGGAACAACAGCC	0.627000													8	39					0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149700081	149700081	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:149700081T>C	ENST00000367456.1	+	4	1607	c.1030T>C	c.(1030-1032)Tct>Cct	p.S344P	TAB2_ENST00000538427.1_Missense_Mutation_p.S344P|TAB2_ENST00000536230.1_Missense_Mutation_p.S312P|TAB2_ENST00000286332.5_Missense_Mutation_p.S344P|TAB2_ENST00000392282.1_Missense_Mutation_p.S344P			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	344					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACTGCGTTCTTCTGGACCTCG	0.423000													18	53					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123514580	123514580	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:123514580C>T	ENST00000422452.2	-	32	8068	c.8005G>A	c.(8005-8007)Gaa>Aaa	p.E2669K	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.E2662K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTTCTTTGTTCCTTAGTCCAG	0.547000													21	127					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	117984922	117984922	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:117984922C>T	ENST00000356554.3	+	6	1660	c.925C>T	c.(925-927)Cct>Tct	p.P309S		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	309					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TACTGGGATTCCTTGGGCAAT	0.333000													6	86					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128643239	128643239	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:128643239C>T	ENST00000368227.3	-	3	806	c.440G>A	c.(439-441)aGa>aAa	p.R147K	PTPRK_ENST00000368213.5_Missense_Mutation_p.R147K|PTPRK_ENST00000525459.1_Missense_Mutation_p.R147K|PTPRK_ENST00000368215.3_Missense_Mutation_p.R147K|PTPRK_ENST00000368207.3_Missense_Mutation_p.R147K|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.R147K|PTPRK_ENST00000368226.4_Missense_Mutation_p.R147K|PTPRK_ENST00000532331.1_Missense_Mutation_p.R147K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	147	MAM.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AAGCCAATCTCTACCCGTGAA	0.433000													9	58					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70650417	70650417	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:70650417C>T	ENST00000260126.3	-	5	1987	c.1281G>A	c.(1279-1281)agG>agA	p.R427R	SLCO5A1_ENST00000524945.1_Silent_p.R427R|SLCO5A1_ENST00000530307.1_Intron	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	427						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGCTTAAGATCCTGACAGCTG	0.348000													11	58					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70049347	70049347	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:70049347C>T	ENST00000370598.1	+	26	4231	c.3410C>T	c.(3409-3411)tCa>tTa	p.S1137L	BAI3_ENST00000546190.1_Missense_Mutation_p.S101L|BAI3_ENST00000238918.8_Missense_Mutation_p.S343L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1137					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTGTTTGATTCATTGCAAGGC	0.443000													21	117					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152841599	152841599	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:152841599T>A	ENST00000367255.5	-	6	905	c.304A>T	c.(304-306)Aga>Tga	p.R102*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R102*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R102*|SYNE1_ENST00000466159.2_Nonsense_Mutation_p.R102*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.R102*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R102*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R102*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.R102*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.R102*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	102	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTACCTTTCTTCCTTCGAGG	0.443000										HNSCC(10;0.0054)			12	113					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34145358	34145358	+	Silent	SNP	C	C	T	rs139800295		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:34145358C>T	ENST00000257829.3	+	10	1170	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	NAT10_ENST00000531159.2_Silent_p.L250L|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	322						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCTCCATACTCTGTTTGAATT	0.353000													4	69					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221852	118221852	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:118221852G>A	ENST00000402510.2	-	11	3340	c.3341C>T	c.(3340-3342)tCt>tTt	p.S1114F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1114										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTGCTCCTTAGAAATGTCCTC	0.483000													33	124					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772522	4772522	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:4772522C>T	ENST00000378191.4	+	2	973	c.592C>T	c.(592-594)Ccg>Tcg	p.P198S	AJAP1_ENST00000378190.3_Missense_Mutation_p.P198S	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	198	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CAACACATTTCCGGGCGTTTA	0.652000													7	20					0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144508147	144508147	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:144508147C>T	ENST00000367568.4	+	2	566	c.383C>T	c.(382-384)tCg>tTg	p.S128L		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	128					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCGCGCATTTCGCGGGCGCAG	0.672000									Familial Hemophagocytic Lymphohistiocytosis				7	23					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92352634	92352634	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:92352634T>C	ENST00000276609.3	+	8	1120	c.881T>C	c.(880-882)aTt>aCt	p.I294T	SLC26A7_ENST00000309536.2_Missense_Mutation_p.I294T|SLC26A7_ENST00000523719.1_Missense_Mutation_p.I294T	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	294						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTCCACAGAATTCCCTCACCT	0.448000													4	66					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179319	87179319	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:87179319C>T	ENST00000265724.3	-	14	1819	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	ABCB1_ENST00000543898.1_Missense_Mutation_p.E404K	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	468	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCAATGATTTCCCGTAGAAAC	0.408000													8	104					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48370683	48370683	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:48370683G>A	ENST00000395702.2	+	2	378	c.151G>A	c.(151-153)Gag>Aag	p.E51K	ZNF488_ENST00000586537.1_5'UTR|ZNF488_ENST00000494156.1_Missense_Mutation_p.E51K			Q96MN9	ZN488_HUMAN	zinc finger protein 488	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGTGCTGCTCGAGAAGACGAA	0.677000													7	87					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10254580	10254580	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:10254580G>A	ENST00000340748.4	-	28	3165	c.2930C>T	c.(2929-2931)tCc>tTc	p.S977F	DNMT1_ENST00000359526.4_Missense_Mutation_p.S993F|DNMT1_ENST00000540357.1_Missense_Mutation_p.S977F			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	977	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GATGTAGTCGGAGTATTTCCG	0.567000													22	245					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173503730	173503730	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:173503730G>A	ENST00000367714.3	-	16	2289	c.1867C>T	c.(1867-1869)Cct>Tct	p.P623S	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	623					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATTATCATAGGATAAATATAT	0.259000													5	26					0	0	1	0	0
AP4S1	11154	broad.mit.edu	37	14	31535417	31535417	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:31535417C>T	ENST00000216366.4	+	2	223	c.15C>T	c.(13-15)ttC>ttT	p.F5F	AP4S1_ENST00000334725.4_Silent_p.F5F|AP4S1_ENST00000542754.2_Silent_p.F5F|AP4S1_ENST00000554609.1_Silent_p.F5F|AP4S1_ENST00000554345.1_Silent_p.F5F|AP4S1_ENST00000313566.6_Silent_p.F5F	NM_007077.4	NP_009008.2	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1 subunit	5						coated pit|Golgi apparatus	protein transporter activity			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		TAAAATTTTTCCTCATGGTGA	0.358000													13	93					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099049	169099049	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:169099049C>T	ENST00000494292.1	-	2	398	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	101							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCACCTACTTCGATCTTCCTT	0.448000													17	107					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583576	7583576	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:7583576A>G	ENST00000379802.3	+	24	6422	c.6081A>G	c.(6079-6081)gaA>gaG	p.E2027E	DSP_ENST00000418664.2_Silent_p.E1428E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2027	Globular 2.				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)		CTCCTAAGGAAAAATACTCTT	0.468000													8	62					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683173	100683173	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100683173G>A	ENST00000306151.4	+	3	8540	c.8476G>A	c.(8476-8478)Gag>Aag	p.E2826K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2826	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTGGCAC	0.488000													25	407					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173493947	173493947	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:173493947C>T	ENST00000367714.3	-	20	2907	c.2485G>A	c.(2485-2487)Gat>Aat	p.D829N	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	829					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TCATGCTTATCAATAATGCCT	0.383000													7	77					0	0	1	0	0
TMEM50A	23585	broad.mit.edu	37	1	25679392	25679392	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:25679392C>T	ENST00000374358.4	+	5	847	c.294C>T	c.(292-294)ttC>ttT	p.F98F	TMEM50A_ENST00000480937.1_Intron	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	98						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TTTGGCTTTTCGTTGGTTTCA	0.333000													13	66					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107911629	107911629	+	Missense_Mutation	SNP	G	G	A	rs104886391		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:107911629G>A	ENST00000328300.6	+	41	3929	c.3685G>A	c.(3685-3687)Ggt>Agt	p.G1229S	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1229S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1229	Triple-helical region.		G -> D (in APSX; adult type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGCTTTCACGGTTTCCCTGG	0.572000									Alport syndrome with Diffuse Leiomyomatosis				5	17					0	0	1	0	0
FAM86B2	653333	broad.mit.edu	37	8	12285145	12285145	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:12285145C>T	ENST00000393715.3	-	3	463	c.229G>A	c.(229-231)Ggg>Agg	p.G77R	FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000262365.4_Intron			P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	0										endometrium(1)|kidney(2)	3						CATGTAGGCCCGGGTGGGCGT	0.617000													11	74					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302035	128302035	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:128302035C>T	ENST00000262462.4	+	1	1215	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	SLC27A6_ENST00000395266.1_Missense_Mutation_p.R69W|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R69W			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	69					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AAGACAACCTCGGAAACCTTT	0.458000													8	75					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56473506	56473506	+	Missense_Mutation	SNP	G	G	A	rs148438060		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56473506G>A	ENST00000291971.3	+	4	2187	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	NLRP8_ENST00000590542.1_Missense_Mutation_p.E706K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	706						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGATAAGCTGGAAGTCCTGAC	0.512000													12	99					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40359932	40359932	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:40359932C>T	ENST00000338305.6	-	3	2662	c.2120G>A	c.(2119-2121)aGg>aAg	p.R707K		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	707						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGCAGGCTCCTGGCCCGGGC	0.736000													3	12					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84205903	84205903	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:84205903C>T	ENST00000378553.5	+	9	1690	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	522					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	p.F522F(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGGGTGTATTCGTTACAGAAC	0.448000													3	33					0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541067	40541067	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:40541067G>A	ENST00000434248.1	-	5	1764	c.1699C>T	c.(1699-1701)Cgt>Tgt	p.R567C	ZNF780B_ENST00000221355.6_Missense_Mutation_p.R419C	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAACCACGACGAAAGAATTTC	0.398000													4	108					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94039067	94039067	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:94039067C>T	ENST00000297268.6	+	19	1440	c.969C>T	c.(967-969)ctC>ctT	p.L323L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	323					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCCCGGCCTCCCTGGACCCC	0.582000										HNSCC(75;0.22)			5	75					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47099222	47099222	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:47099222G>A	ENST00000377107.2	+	4	805	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	USP11_ENST00000218348.3_Missense_Mutation_p.V194M			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	194	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GAAGGTCGAAGTGTACCCAGT	0.498000													17	31					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35644078	35644078	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:35644078C>T	ENST00000540320.1	+	9	1807	c.1273C>T	c.(1273-1275)Cat>Tat	p.H425Y	NBEA_ENST00000310336.4_Missense_Mutation_p.H425Y|NBEA_ENST00000400445.3_Missense_Mutation_p.H425Y|NBEA_ENST00000379939.2_Missense_Mutation_p.H425Y			Q8NFP9	NBEA_HUMAN	neurobeachin	425						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAGTGATATTCATTTGGCAGA	0.343000													6	17					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9032419	9032419	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:9032419C>T	ENST00000383836.3	-	21	3090	c.2663G>A	c.(2662-2664)cGg>cAg	p.R888Q	SRGAP3_ENST00000360413.3_Missense_Mutation_p.R864Q	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	888					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGCAGCAGCCCGGGGTGGTGT	0.701000			T	RAF1	pilocytic astrocytoma								7	18					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175066578	175066578	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:175066578G>A	ENST00000239462.4	+	8	1727	c.1614G>A	c.(1612-1614)gtG>gtA	p.V538V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	538	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAAACCTGGTGACTGACCGGG	0.507000													6	26					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82937378	82937378	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:82937378G>A	ENST00000274341.4	-	5	1852	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	334	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GGAAACCCACGAAGCGCACTG	0.522000													29	105					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37307474	37307474	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:37307474A>G	ENST00000373091.3	-	10	1409	c.1393T>C	c.(1393-1395)Tac>Cac	p.Y465H	GRIK3_ENST00000373093.4_Missense_Mutation_p.Y465H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	465					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TCGATGCAGTAGCCCTCGAAC	0.572000													41	135					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399091	179399091	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179399091A>G	ENST00000589042.1	-	358	102475	c.102251T>C	c.(102250-102252)gTt>gCt	p.V34084A	TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V25019A|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V25144A|TTN_ENST00000591111.1_Missense_Mutation_p.V32443A|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V25211A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V31516A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32443	Ig-like 151.						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)			TGTTCTGATAACTTTAGTACT	0.473000													7	65					0	0	1	0	0
ZBTB18	10472	broad.mit.edu	37	1	244217908	244217908	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:244217908C>T	ENST00000358704.4	+	2	981	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		GAGAAGCAACCTGGTGCAGGT	0.468000													8	60					0	0	1	0	0
DNAJB12	54788	broad.mit.edu	37	10	74103141	74103141	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:74103141G>A	ENST00000338820.3	-	3	691	c.542C>T	c.(541-543)gCc>gTc	p.A181V	DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000444643.2_Missense_Mutation_p.A147V|DNAJB12_ENST00000394903.2_Missense_Mutation_p.A181V	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	147					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						GGCTTCAGTGGCACCAGGTGC	0.567000													3	12					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26527522	26527522	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:26527522G>A	ENST00000456354.2	+	8	1256	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	397					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCGAGATGAACTCAACAT	0.552000													16	68					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5465062	5465062	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:5465062C>T	ENST00000296564.7	+	13	5837	c.5615C>T	c.(5614-5616)cCa>cTa	p.P1872L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1872										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAAAACCTCCCAGGGAACCTC	0.502000													8	18					0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132681737	132681737	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:132681737G>A	ENST00000328957.8	-	11	1726	c.1727C>T	c.(1726-1728)gCc>gTc	p.A576V	GALNT9_ENST00000535228.1_Missense_Mutation_p.A327V|GALNT9_ENST00000397325.2_Missense_Mutation_p.A210V|GALNT9_ENST00000541995.1_Missense_Mutation_p.A210V	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	576	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CCCAAAGTTGGCATCTTTGGA	0.632000													13	56					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084427	248084427	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248084427C>T	ENST00000319968.4	+	1	108	c.108C>T	c.(106-108)tcC>tcT	p.S36S		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TTTTGACCTCCCTGTTTGGCA	0.498000													10	53					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233350	43233350	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43233350C>T	ENST00000327495.5	-	5	1352	c.1168G>A	c.(1168-1170)Ggg>Agg	p.G390R	PSG3_ENST00000595140.1_Missense_Mutation_p.G390R	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	390	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region		p.G390W(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCATAGAGCCCGCTATGCTTT	0.468000													16	259					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80623100	80623100	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:80623100T>A	ENST00000458043.2	+	7	532	c.526T>A	c.(526-528)Ttt>Att	p.F176I	OTOGL_ENST00000547103.1_Missense_Mutation_p.F176I	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CAGCTTGTTCTTTTCAAACCA	0.358000													8	66					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70416268	70416268	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:70416268C>T	ENST00000327305.6	-	10	2254	c.1597G>A	c.(1597-1599)Gtc>Atc	p.V533I	NETO1_ENST00000583169.1_Missense_Mutation_p.V533I|NETO1_ENST00000299430.2_Missense_Mutation_p.V532I	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	533					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)		TCTTTCTAGACCCTAGTTGTG	0.378000													10	55					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279168	47279168	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:47279168G>A	ENST00000271153.4	+	5	546	c.510G>A	c.(508-510)gaG>gaA	p.E170E	CYP4B1_ENST00000371923.4_Silent_p.E170E|CYP4B1_ENST00000452782.2_Silent_p.E7E|CYP4B1_ENST00000371919.4_Silent_p.E155E			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	170					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					AGTGGGAAGAGAAAGCTCGGG	0.577000													7	36					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158632707	158632707	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158632707G>A	ENST00000368148.3	-	17	2429	c.2249C>T	c.(2248-2250)gCt>gTt	p.A750V	SPTA1_ENST00000368147.3_Missense_Mutation_p.A750V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	750					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAAATATGCAGCCAGGTCTGT	0.433000													11	42					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62984929	62984929	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:62984929G>A	ENST00000403374.2	-	5	492	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000306494.6_Silent_p.F229F|SLC22A10_ENST00000525620.1_Intron			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	229					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CCATGGCACAGAATTGGTGAG	0.423000													9	47					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39734772	39734772	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:39734772T>C	ENST00000395670.3	-	15	2465	c.2046A>G	c.(2044-2046)ctA>ctG	p.L682L	KIF21A_ENST00000361418.5_Silent_p.L682L|KIF21A_ENST00000361961.3_Silent_p.L669L|KIF21A_ENST00000544797.2_Silent_p.L669L|KIF21A_ENST00000541463.2_Silent_p.L669L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	682					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCAGCATCATTAGCTTCTCTT	0.348000													9	23					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109773785	109773785	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:109773785G>A	ENST00000368952.4	-	5	952	c.662C>T	c.(661-663)cCc>cTc	p.P221L	MICAL1_ENST00000358807.3_Missense_Mutation_p.P202L|MICAL1_ENST00000358577.3_Missense_Mutation_p.P202L			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	202					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTGGGCAGGGGGGTTGGGTTG	0.552000													5	26					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919343	130919343	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:130919343G>A	ENST00000261655.4	-	11	2301	c.2138C>T	c.(2137-2139)cCa>cTa	p.P713L	RIMBP2_ENST00000535703.1_Missense_Mutation_p.P621L|RIMBP2_ENST00000536002.1_Missense_Mutation_p.P621L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	713						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTTGAAGTCTGGAGAGTCATA	0.592000													15	112					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103338393	103338393	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:103338393G>A	ENST00000424685.2	-	10	1209	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	RELN_ENST00000428762.1_Silent_p.I350I|RELN_ENST00000343529.5_Silent_p.I350I			P78509	RELN_HUMAN	reelin	350					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAATTGATGATCAAGATGT	0.463000													14	108					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86839375	86839375	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:86839375G>A	ENST00000237455.4	-	3	1357	c.389C>T	c.(388-390)cCc>cTc	p.P130L	AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	130					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GCCCACCAAGGGACTTCTGTC	0.373000													8	52					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19442124	19442124	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:19442124G>A	ENST00000375267.2	-	74	10834	c.10831C>T	c.(10831-10833)Cgc>Tgc	p.R3611C	UBR4_ENST00000375254.3_Missense_Mutation_p.R3611C|UBR4_ENST00000375217.2_Missense_Mutation_p.R3604C|UBR4_ENST00000375226.2_Missense_Mutation_p.R3587C|UBR4_ENST00000375218.3_Missense_Mutation_p.R26C			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3611					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R3611C(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGTGCCAGCGAGCTGGCCTA	0.483000													32	129					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37543403	37543403	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:37543403C>A	ENST00000379066.1	-	2	1027	c.265G>T	c.(265-267)Gtg>Ttg	p.V89L	PRKD3_ENST00000234179.2_Missense_Mutation_p.V89L			O94806	KPCD3_HUMAN	protein kinase D3	89					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATGGAGCACACAAGATCCTTG	0.383000													19	137					1.96292e-10	1.9854e-10	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13793757	13793757	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:13793757G>A	ENST00000265104.4	-	49	8195	c.8091C>T	c.(8089-8091)atC>atT	p.I2697I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2697	AAA 3 (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)					GGATGTCCACGATGCTGGTGA	0.448000									Kartagener syndrome				5	83					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399747	179399747	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179399747G>A	ENST00000589042.1	-	358	101819	c.101595C>T	c.(101593-101595)tcC>tcT	p.S33865S	TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Silent_p.S24800S|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.S24925S|TTN_ENST00000591111.1_Silent_p.S32224S|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.S24992S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342992.6_Silent_p.S31297S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32224	Ig-like 149.						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)			TATTCAGAATGGAAATTTCCT	0.353000													12	72					0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39439041	39439041	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:39439041G>A	ENST00000308521.5	+	2	474	c.117G>A	c.(115-117)gtG>gtA	p.V39V	APOBEC3F_ENST00000381565.2_Silent_p.V39V|APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000491387.1_3'UTR	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	39					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GCTACGAAGTGAAAACAAAGG	0.502000													3	22					0	0	1	0	0
CTAGE6	340307	broad.mit.edu	37	7	143453526	143453526	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143453526C>T	ENST00000470691.2	-	1	1263	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					TTCCTCTATTCGGTAATTTTC	0.373000													13	147					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44685174	44685174	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:44685174G>A	ENST00000454036.1	+	23	3226	c.3150G>A	c.(3148-3150)gaG>gaA	p.E1050E	SLC12A5_ENST00000243964.3_Silent_p.E1027E	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1050					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTCCTCTGAGGGCATCAAGG	0.602000													8	34					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104048	53104048	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:53104048C>T	ENST00000408890.4	+	1	700	c.684C>T	c.(682-684)tcC>tcT	p.S228S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	228										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGGTTGCTTCCTTCGTGCCCA	0.637000													7	78					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154069	5154069	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:5154069C>T	ENST00000252321.3	+	1	985	c.756C>T	c.(754-756)atC>atT	p.I252I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	252						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CGCGGGCCATCGCCATCGTCT	0.587000													13	158					0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105215117	105215117	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:105215117G>A	ENST00000329905.5	-	2	1079	c.943C>T	c.(943-945)Ctg>Ttg	p.L315L	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	315						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TCCTGGCCCAGCCGCAGAGGC	0.647000													4	37					0	0	1	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29957506	29957506	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:29957506A>G	ENST00000216121.7	-	6	822	c.568T>C	c.(568-570)Tac>Cac	p.Y190H		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	190								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						TTGAGCTTGTATGTCCTCAGC	0.577000													26	91					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158236	139158236	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:139158236C>T	ENST00000395297.1	-	15	3676	c.3506G>A	c.(3505-3507)gGa>gAa	p.G1169E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1169										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)			GTCCAGTTTTCCTCCAGGGAG	0.453000										HNSCC(54;0.14)			13	49					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14029259	14029259	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:14029259G>A	ENST00000311895.7	+	8	1479	c.1470G>A	c.(1468-1470)cgG>cgA	p.R490R	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	490			R -> Q (in XP-F).		double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGAAAAAACGGAAGTTGACCT	0.408000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				9	39					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551666	1551666	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:1551666C>T	ENST00000381605.4	-	4	933	c.869G>A	c.(868-870)gGa>gAa	p.G290E	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	290	Ig-like C1-type 2.				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						GGACACATTTCCATTCTCCAA	0.552000													17	85					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	362274	362274	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:362274G>A	ENST00000342640.4	-	8	1108	c.1066C>T	c.(1066-1068)Ccc>Tcc	p.P356S	THEG_ENST00000346878.2_Missense_Mutation_p.P332S	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	356					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GAGGCGAGGGGACGCCTGTCG	0.602000													8	114					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186081	101186081	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:101186081G>A	ENST00000294728.2	+	2	215	c.114G>A	c.(112-114)caG>caA	p.Q38Q	VCAM1_ENST00000370115.1_Silent_p.Q38Q|VCAM1_ENST00000347652.2_Silent_p.Q38Q|VCAM1_ENST00000370119.4_Silent_p.Q38Q	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	38	Ig-like C2-type 1.				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)	ATCTTGCTCAGATTGGTGACT	0.433000													21	75					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536766	4536766	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:4536766C>T	ENST00000570836.1	-	10	1287	c.1191G>A	c.(1189-1191)ctG>ctA	p.L397L	ALOX15_ENST00000574640.1_Silent_p.L358L|ALOX15_ENST00000545513.1_Silent_p.L419L|ALOX15_ENST00000293761.3_Silent_p.L397L			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	397	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CGTTAATTTCCAGGGTGTATC	0.522000													20	84					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2967740	2967740	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:2967740C>T	ENST00000520002.1	-	44	7106	c.6551G>A	c.(6550-6552)gGa>gAa	p.G2184E	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2184E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2183E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2184E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2183E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2184E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2184	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GATGTAAACTCCGTGCCCTGG	0.468000													3	13					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960341	73960341	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73960341G>A	ENST00000373468.1	-	3	4702	c.4051C>T	c.(4051-4053)Ccc>Tcc	p.P1351S	KIAA2022_ENST00000055682.5_Missense_Mutation_p.P1351S			Q5QGS0	K2022_HUMAN	KIAA2022	1351					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AATATGTTGGGATCCCCATGG	0.458000													17	30					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181689390	181689390	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:181689390G>A	ENST00000526775.1	+	14	1965	c.1800G>A	c.(1798-1800)atG>atA	p.M600I	CACNA1E_ENST00000367567.4_Missense_Mutation_p.M207I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.M551I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M551I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.M600I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.M600I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.M600I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	600					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGAGCTCAATGAAGTCTATCA	0.468000													5	32					0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13621514	13621514	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:13621514C>T	ENST00000361306.1	+	5	736	c.479C>T	c.(478-480)tCc>tTc	p.S160F	EGFL6_ENST00000380602.3_Missense_Mutation_p.S160F	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	160	EGF-like 3.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CTGTGTCCATCCTCAGGACTC	0.498000													8	28					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20683155	20683155	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:20683155C>T	ENST00000404938.2	+	7	1230	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	379					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.S193L(1)|p.S193*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTACTTTTTCGATTGGCCTG	0.423000													7	81					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	110222993	110222993	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:110222993C>T	ENST00000399132.1	-	2	713	c.183G>A	c.(181-183)gcG>gcA	p.A61A	COL25A1_ENST00000399126.1_Silent_p.A61A|COL25A1_ENST00000399127.1_Silent_p.A61A	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	61						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CGGCGATCCTCGCCTGGAGGT	0.617000													15	94					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132036382	132036382	+	Nonsense_Mutation	SNP	C	C	T	rs149109145		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:132036382C>T	ENST00000336375.5	+	1	172	c.82C>T	c.(82-84)Cga>Tga	p.R28*	ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000351273.7_Nonsense_Mutation_p.R28*|ACPP_ENST00000475741.1_Nonsense_Mutation_p.R28*	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	28						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGGCTAGACCGAAGTGTACT	0.463000													6	26					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866047	139866047	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:139866047C>T	ENST00000370532.2	-	1	676	c.485G>A	c.(484-486)aGa>aAa	p.R162K		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	162	6 X 6 AA approximate repeats.							p.R162I(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAATCCAAGTCTTCCGGATAA	0.448000													34	147					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50209533	50209533	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:50209533G>A	ENST00000392518.4	+	12	1578	c.1206G>A	c.(1204-1206)gcG>gcA	p.A402A	CPT1C_ENST00000598293.1_Silent_p.A402A|CPT1C_ENST00000405931.2_Silent_p.A391A|CPT1C_ENST00000323446.5_Silent_p.A402A|CPT1C_ENST00000354199.5_Silent_p.A402A	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	402					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCCAGGCAGCGGAGGCCCTGG	0.701000													5	14					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104116472	104116472	+	Missense_Mutation	SNP	C	C	T	rs140826288		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:104116472C>T	ENST00000361355.4	+	6	1272	c.656C>T	c.(655-657)cCt>cTt	p.P219L	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	219					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CACATGTGGCCTGGAGACATA	0.413000													46	371					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247618	56247618	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:56247618C>T	ENST00000545221.1	+	1	602	c.602C>T	c.(601-603)tCc>tTc	p.S201F		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTCAAGATCTCCAACAGTGGG	0.512000													22	62					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	166958682	166958682	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:166958682G>A	ENST00000392766.2	-	21	2642	c.2302C>T	c.(2302-2304)Cag>Tag	p.Q768*	ZBBX_ENST00000392767.2_Nonsense_Mutation_p.Q768*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.Q807*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.Q807*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.Q739*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	768						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGCAAAGACTGAATTTTGGTA	0.378000													12	66					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592428	38592428	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:38592428G>A	ENST00000413689.1	-	28	5628	c.5435C>T	c.(5434-5436)tCg>tTg	p.S1812L	SCN5A_ENST00000425664.1_Missense_Mutation_p.S1794L|SCN5A_ENST00000333535.4_Missense_Mutation_p.S1812L|SCN5A_ENST00000414099.2_Missense_Mutation_p.S1794L|SCN5A_ENST00000455624.2_Missense_Mutation_p.S1779L|SCN5A_ENST00000450102.2_Missense_Mutation_p.S1758L|SCN5A_ENST00000449557.2_Missense_Mutation_p.S1758L|SCN5A_ENST00000443581.1_Missense_Mutation_p.S1811L|SCN5A_ENST00000451551.2_Missense_Mutation_p.S1758L|SCN5A_ENST00000423572.2_Missense_Mutation_p.S1811L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1812					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)	AGACAGGACCGAATACTCAAT	0.537000													7	43					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121966960	121966960	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:121966960G>A	ENST00000379692.4	-	2	559	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	11										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GTGGAAACAGGAGCCACAGCA	0.502000													3	34					0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364552	29364552	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29364552T>A	ENST00000383555.2	+	1	137	c.76T>A	c.(76-78)Ttc>Atc	p.F26I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GCCTTTTCTCTTCGTGGTTTT	0.428000													28	130					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027575	161027575	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:161027575C>T	ENST00000447678.1	-	18	2839	c.2719G>A	c.(2719-2721)Gaa>Aaa	p.E907K	LPA_ENST00000316300.5_Missense_Mutation_p.E907K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3415	Kringle 8.				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)	GCAGTCCCTTCTGCGTCTGAG	0.542000													21	134					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47299718	47299718	+	Silent	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:47299718G>T	ENST00000342922.4	+	6	1455	c.1098G>T	c.(1096-1098)ctG>ctT	p.L366L	MADD_ENST00000489415.1_3'UTR|MADD_ENST00000311027.5_Silent_p.L366L|MADD_ENST00000406482.1_Silent_p.L366L|MADD_ENST00000395336.3_Silent_p.L366L|MADD_ENST00000395344.3_Silent_p.L366L|MADD_ENST00000407859.3_Silent_p.L366L|MADD_ENST00000349238.3_Silent_p.L366L|MADD_ENST00000402192.2_Silent_p.L366L|MADD_ENST00000402799.1_Silent_p.L366L	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	366	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TTCCACAGCTGCTGTTGGCTC	0.433000													20	157					2.70639e-06	2.72986e-06	1	1	0
KCNMA1	3778	broad.mit.edu	37	10	78870098	78870098	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:78870098C>T	ENST00000286627.5	-	8	1916	c.964G>A	c.(964-966)Gag>Aag	p.E322K	KCNMA1_ENST00000404857.1_Missense_Mutation_p.E322K|KCNMA1_ENST00000286628.8_Missense_Mutation_p.E322K|KCNMA1_ENST00000406533.3_Missense_Mutation_p.E322K|KCNMA1_ENST00000372443.1_Missense_Mutation_p.E322K|KCNMA1_ENST00000354353.5_Missense_Mutation_p.E322K|KCNMA1_ENST00000404771.3_Missense_Mutation_p.E322K|KCNMA1_ENST00000372440.1_Missense_Mutation_p.E322K	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	322					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCTGAATTCTCCACCTAAAGC	0.453000													19	185					0	0	1	0	0
FGL1	2267	broad.mit.edu	37	8	17731949	17731949	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:17731949G>A	ENST00000398056.2	-	6	1141	c.326C>T	c.(325-327)tCt>tTt	p.S109F	FGL1_ENST00000522444.1_Missense_Mutation_p.S109F|FGL1_ENST00000427924.1_Missense_Mutation_p.S109F|FGL1_ENST00000518650.1_Missense_Mutation_p.S109F|FGL1_ENST00000381840.2_Missense_Mutation_p.S109F|FGL1_ENST00000398054.1_Missense_Mutation_p.S109F|FGL1_ENST00000381841.2_Missense_Mutation_p.S109F			Q08830	FGL1_HUMAN	fibrinogen-like 1	109	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		ACAATAAACAGAAAATTCTGC	0.378000													6	78					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	105937241	105937241	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:105937241G>A	ENST00000324342.3	+	1	174	c.9G>A	c.(7-9)caG>caA	p.Q3Q		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CAATGAACCAGGAGAATAGGT	0.353000													4	19					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71872432	71872432	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:71872432C>T	ENST00000373545.3	-	12	1645	c.1207G>A	c.(1207-1209)Ggt>Agt	p.G403S	PHKA1_ENST00000373539.3_Missense_Mutation_p.G403S|PHKA1_ENST00000373542.4_Missense_Mutation_p.G403S|PHKA1_ENST00000541944.1_Missense_Mutation_p.G403S|PHKA1_ENST00000339490.3_Missense_Mutation_p.G403S			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	403					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGAGACTGACCCCACATGTGA	0.443000													11	12					0	0	1	0	0
SLC25A37	51312	broad.mit.edu	37	8	23428990	23428990	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:23428990C>T	ENST00000519973.1	+	4	837	c.639C>T	c.(637-639)tcC>tcT	p.S213S		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	213					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CCTTCCAGTCCATCCACTTCA	0.627000													17	43					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53233127	53233127	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53233127C>T	ENST00000359499.4	-	9	1014	c.1003G>A	c.(1003-1005)Gga>Aga	p.G335R	KRT78_ENST00000304620.4_Missense_Mutation_p.G445R			Q8N1N4	K2C78_HUMAN	keratin 78	445	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCAACTCCTCCAGACATGACA	0.612000													3	22					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227872792	227872792	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:227872792G>A	ENST00000396625.3	-	47	4958	c.4751C>T	c.(4750-4752)tCc>tTc	p.S1584F	COL4A4_ENST00000329662.7_Missense_Mutation_p.S1581F	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1584	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGGGGGATGGACTGGTCCTG	0.617000													4	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595880	179595880	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179595880C>T	ENST00000589042.1	-	60	17736	c.17512G>A	c.(17512-17514)Gac>Aac	p.D5838N	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5521N|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4594N|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5521	Ig-like 39.						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)			GTGGCTGGGTCTCCTTGGGTG	0.438000													22	156					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364110	5364110	+	Silent	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5364110G>T	ENST00000300773.2	-	1	699	c.645C>A	c.(643-645)tcC>tcA	p.S215S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	215					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)		TCAACACATAGGAGATGAAGA	0.463000													7	112					2.0095e-06	2.02735e-06	1	1	0
XDH	7498	broad.mit.edu	37	2	31637491	31637491	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:31637491C>T	ENST00000379416.3	-	1	90	c.42_splice	c.e1+1	p.K14_splice		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	14	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCCTACTTACCTTTCTGCCAT	0.507000													11	139					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85961661	85961661	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:85961661C>T	ENST00000372117.3	+	7	727	c.624C>T	c.(622-624)atC>atT	p.I208I	CDHR1_ENST00000332904.3_Silent_p.I208I|CDHR1_ENST00000440770.2_5'UTR	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	208	Cadherin 2.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCCACTACATCACCGTGGTCG	0.617000													6	20					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423185	56423185	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56423185C>T	ENST00000588751.1	-	5	2022	c.1998G>A	c.(1996-1998)ttG>ttA	p.L666L	NLRP13_ENST00000342929.3_Silent_p.L666L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	666							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTTCGTCCTCCAAAATATTAA	0.408000													14	125					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060228	16060228	+	Missense_Mutation	SNP	G	G	A	rs150172076		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:16060228G>A	ENST00000322107.1	+	1	411	c.411G>A	c.(409-411)atG>atA	p.M137I		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						ATGTGCTCATGAGCCCCCGTG	0.537000													13	123					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34091495	34091495	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:34091495C>T	ENST00000297161.2	+	9	1073	c.699C>T	c.(697-699)ctC>ctT	p.L233L	BMPER_ENST00000426693.1_Silent_p.L233L|BMPER_ENST00000494786.1_3'UTR	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	233					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGTTTGACCTCCCTTTTGGGA	0.458000													13	67					0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55208504	55208504	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:55208504C>A	ENST00000201031.2	+	4	925	c.682C>A	c.(682-684)Cct>Act	p.P228T	TFAP2C_ENST00000544508.1_Missense_Mutation_p.P59T	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	228					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CTGCTCAGTCCCTGGAAGATT	0.532000													5	76					0.014758	0.0147921	1	1	0
OPTN	10133	broad.mit.edu	37	10	13167428	13167428	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:13167428C>T	ENST00000378748.3	+	11	1371	c.1009C>T	c.(1009-1011)Ctt>Ttt	p.L337F	OPTN_ENST00000378764.2_Missense_Mutation_p.L331F|OPTN_ENST00000378752.3_Missense_Mutation_p.L331F|OPTN_ENST00000378757.2_Missense_Mutation_p.L337F|OPTN_ENST00000263036.5_Missense_Mutation_p.L337F|OPTN_ENST00000378747.3_Missense_Mutation_p.L337F	NM_001008211.1|NM_001008213.1	NP_001008212.1|NP_001008214.1	Q96CV9	OPTN_HUMAN	optineurin	337					cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTGTCAGGCCCTTGAAAGGAA	0.373000													6	61					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248917	20248917	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20248917G>A	ENST00000315957.4	+	1	517	c.436G>A	c.(436-438)Gct>Act	p.A146T		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATCCTGGTGGCTCTCTCCTG	0.502000													16	402					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600810	29600810	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:29600810G>A	ENST00000431530.3	+	1	2063	c.2005G>A	c.(2005-2007)Gac>Aac	p.D669N		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	659	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGGCCAGGTGGACGCCTCGCT	0.587000													9	21					0	0	1	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142119876	142119876	+	RNA	SNP	C	C	T	rs143496004	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142119876C>T	ENST00000390377.1	-	0	290																											TGCGCTGAATCGTCAGAGTGG	0.537000													4	78					0	0	1	0	0
UTS2	10911	broad.mit.edu	37	1	7912983	7912983	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:7912983C>T	ENST00000054668.5	-	2	125	c.125_splice	c.e2-1	p.L42_splice	UTS2_ENST00000361696.5_Silent_p.R27R|UTS2_ENST00000377516.2_Silent_p.R27R	NM_021995.2	NP_068835.1	O95399	UTS2_HUMAN	urotensin 2	27					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		AGGATATTTCCCTGGAGTCAA	0.378000													9	115					0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50574211	50574211	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:50574211C>T	ENST00000374139.2	-	6	752	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	DRGX_ENST00000434016.1_Missense_Mutation_p.E253K			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	253					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GAGGTCTTTTCCTGGCTGCCA	0.672000													16	79					0	0	1	0	0
C8orf47	203111	broad.mit.edu	37	8	99102183	99102183	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:99102183G>A	ENST00000318528.3	+	2	1297	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	313	Glu-rich.							p.R313Q(2)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CATCCAGCACGAAATGTAGAG	0.438000													8	67					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34150116	34150116	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:34150116G>A	ENST00000389232.4	+	99	14212		c.e99+1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATGATGACGGTGAGAGCCCA	0.582000													8	25					0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103378691	103378691	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:103378691C>T	ENST00000412401.2	+	1	220	c.15C>T	c.(13-15)atC>atT	p.I5I	TMEM182_ENST00000409528.1_Intron|TMEM182_ENST00000409173.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	5						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						GACTAAATATCGCTATCTTCT	0.358000													8	27					0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58639467	58639467	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:58639467G>A	ENST00000598312.1	-	4	1637	c.1404C>T	c.(1402-1404)tcC>tcT	p.S468S	ZNF329_ENST00000358067.4_Silent_p.S468S	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S468S(1)		NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGGTCAGACAGGAGCTGTCCC	0.498000													7	72					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50954832	50954832	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:50954832C>T	ENST00000374103.4	-	10	1345	c.1260G>A	c.(1258-1260)acG>acA	p.T420T	OGDHL_ENST00000419399.1_Silent_p.T363T|OGDHL_ENST00000432695.1_Silent_p.T211T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	420					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TACCATTGGTCGTGTAGGAGG	0.607000													5	45					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126746118	126746118	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:126746118C>T	ENST00000274473.6	+	10	1222	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	MEGF10_ENST00000508365.1_Missense_Mutation_p.L319F|MEGF10_ENST00000418761.2_Missense_Mutation_p.L319F|MEGF10_ENST00000503335.2_Missense_Mutation_p.L319F	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	319	EGF-like 6.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTATGGCGTTCTCTGTGCTGA	0.537000													4	30					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768239	31768239	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:31768239G>A	ENST00000240587.4	-	2	2787	c.2460C>T	c.(2458-2460)tcC>tcT	p.S820S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	820					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)					TTGTCACCGTGGATGAGGAGG	0.522000													4	57					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118997831	118997831	+	Missense_Mutation	SNP	C	C	T	rs150565427		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:118997831C>T	ENST00000328252.3	+	7	3016	c.2647C>T	c.(2647-2649)Ccc>Tcc	p.P883S	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	883					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.P883S(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACAGTGTAAGCCCCTGAAGTA	0.512000													11	52					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179614724	179614724	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179614724G>A	ENST00000360870.5	-	46	12625	c.12403C>T	c.(12403-12405)Cct>Tct	p.P4135S	TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3483							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)			TGATCTTGAGGCATTGCTTTA	0.378000													11	43					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607406	84607406	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:84607406C>T	ENST00000344803.2	+	4	2068	c.2021C>T	c.(2020-2022)cCt>cTt	p.P674L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCCATCATTCCTGGAGATTTT	0.498000													7	101					0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160806044	160806044	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:160806044C>T	ENST00000368034.4	-	6	1012	c.834_splice	c.e6-1	p.E279_splice	CD244_ENST00000368032.2_Splice_Site_p.E279_splice|CD244_ENST00000322302.7_Splice_Site_p.E187_splice|CD244_ENST00000368033.3_Splice_Site_p.E284_splice|CD244_ENST00000481677.1_Intron	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	284					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGCTCCTGCTCCTGCACAAGA	0.493000													3	18					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119968707	119968707	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:119968707G>A	ENST00000327554.2	+	13	1855	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	464										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CAAACTGCCAGAGGATCTAAA	0.493000													4	54					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181816	140181816	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140181816A>C	ENST00000522353.2	+	1	1034	c.1034A>C	c.(1033-1035)gAt>gCt	p.D345A	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D345A	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACATCAATGATAATGTACCT	0.428000													7	59					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27056151	27056151	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:27056151C>T	ENST00000324856.7	+	2	1518	c.1147C>T	c.(1147-1149)Cca>Tca	p.P383S	ARID1A_ENST00000457599.2_Missense_Mutation_p.P383S|ARID1A_ENST00000374152.2_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	383					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCATCCAGTCCAATGGATCA	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								21	110					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811339	23811339	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:23811339C>T	ENST00000314520.3	+	1	886	c.410C>T	c.(409-411)gCc>gTc	p.A137V	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	137						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CCGCCTGGGGCCTCTGCAGGT	0.637000													5	52					0	0	1	0	0
RAD9B	144715	broad.mit.edu	37	12	110957715	110957715	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:110957715G>A	ENST00000409246.1	+	9	993	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	RAD9B_ENST00000409425.1_Missense_Mutation_p.R223Q|RAD9B_ENST00000409778.3_Missense_Mutation_p.R226Q|RAD9B_ENST00000409300.1_Missense_Mutation_p.R295Q|RAD9B_ENST00000392672.4_Missense_Mutation_p.R295Q			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	292					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TCACAGAAACGAAAAAGGTAA	0.338000													4	11					0	0	1	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142144045	142144045	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142144045G>A	ENST00000390373.2	-	0	39																											CCTGCCCACAGGAGAGAAAAG	0.607000													8	159					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7736238	7736238	+	Missense_Mutation	SNP	C	C	T	rs144664374		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:7736238C>T	ENST00000572933.1	+	84	14430	c.12970C>T	c.(12970-12972)Ccc>Tcc	p.P4324S	DNAH2_ENST00000389173.2_Missense_Mutation_p.P4324S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4324					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)				CCTAGTGTATCCCCCCAAGGT	0.542000													47	156					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211436	78211436	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:78211436C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							AGCATCTCCTCCTGCTCTCGG	0.567000													31	147					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35640208	35640208	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:35640208G>A	ENST00000353139.5	-	5	1051	c.570C>T	c.(568-570)ttC>ttT	p.F190F	ACACA_ENST00000360679.3_Silent_p.F95F|ACACA_ENST00000394406.2_Silent_p.F153F|ACACA_ENST00000335166.5_Silent_p.F75F	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	153	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCATGACAACGAATCTAATTG	0.413000													4	40					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73163756	73163756	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:73163756C>T	ENST00000545377.1	+	19	2384	c.2208C>T	c.(2206-2208)tcC>tcT	p.S736S	ARHGEF28_ENST00000296799.4_Silent_p.S423S|ARHGEF28_ENST00000513042.2_Silent_p.S736S|ARHGEF28_ENST00000426542.2_Silent_p.S736S|ARHGEF28_ENST00000437974.1_Silent_p.S736S|ARHGEF28_ENST00000287898.5_Silent_p.S736S|ARHGEF28_ENST00000296794.6_Silent_p.S736S	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		CTTCTTCCTCCGTGCCTGTTG	0.512000													5	32					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4422787	4422787	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:4422787C>T	ENST00000301280.5	+	5	1343	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	414	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GACAGGAAGCCCTGGAGTGAG	0.612000								Chromatin Structure					4	40					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61932753	61932753	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:61932753C>T	ENST00000280772.1	-	20	2478	c.2287G>A	c.(2287-2289)Ggg>Agg	p.G763R	ANK3_ENST00000373827.2_Missense_Mutation_p.G757R|ANK3_ENST00000503366.1_Missense_Mutation_p.G746R	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	763					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						GGCGTATACCCATTCTGTAGA	0.398000													3	35					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23836735	23836735	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:23836735G>A	ENST00000359788.4	-	4	1168	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	334					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TCTCCAGTATGAATTCTCTTA	0.368000													6	39					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10209780	10209780	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10209780T>C	ENST00000418404.3	-	36	5625	c.5462A>G	c.(5461-5463)aAc>aGc	p.N1821S	MYH13_ENST00000570743.1_Missense_Mutation_p.N1821S|MYH13_ENST00000252172.4_Missense_Mutation_p.N1821S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1821					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						CTCTACCCGGTTCTCCAGTTT	0.522000													35	142					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55148452	55148452	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:55148452C>T	ENST00000414150.2	+	14	2783	c.2505C>T	c.(2503-2505)tcC>tcT	p.S835S	MROH7_ENST00000339553.5_Silent_p.S835S|MROH7_ENST00000409996.1_Silent_p.S403S|MROH7_ENST00000395690.2_Silent_p.S835S|MROH7_ENST00000421030.2_Silent_p.S835S|MROH7_ENST00000545244.1_Silent_p.S403S|MROH7_ENST00000454855.2_Silent_p.S353S					maestro heat-like repeat family member 7																		GCCGGGCTTCCATCGTGCCCC	0.632000													8	37					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84117513	84117513	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:84117513G>A	ENST00000369705.3	-	2	302	c.186C>T	c.(184-186)ttC>ttT	p.F62F	ME1_ENST00000543031.1_Intron|ME1_ENST00000541327.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	62					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCAGATGCTCGAAATTTTTTA	0.383000													8	111					0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8670788	8670788	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:8670788G>A	ENST00000299665.2	+	3	343	c.150G>A	c.(148-150)aaG>aaA	p.K50K		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	50					innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CACGCTGTAAGAGAGGCACAG	0.398000													3	16					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442337	138442337	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:138442337C>T	ENST00000344876.4	-	4	3640	c.3254G>A	c.(3253-3255)tGg>tAg	p.W1085*	PCDH18_ENST00000511115.1_Nonsense_Mutation_p.W265*|PCDH18_ENST00000510305.1_Nonsense_Mutation_p.W296*|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.W1084*|PCDH18_ENST00000507846.1_Nonsense_Mutation_p.W864*	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1085	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGCTGGCAGCCATTTTGAAGA	0.512000													4	28					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130410050	130410050	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:130410050G>A	ENST00000370904.1	-	21	3664	c.2754C>T	c.(2752-2754)ttC>ttT	p.F918F	IGSF1_ENST00000361420.3_Silent_p.F927F|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Silent_p.F932F|IGSF1_ENST00000370910.1_Silent_p.F918F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	927	Ig-like C2-type 9.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGTGGAGAAGGAAGTCAGCTG	0.522000													16	39					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28883641	28883641	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:28883641C>T	ENST00000337120.5	+	6	4935	c.1644C>T	c.(1642-1644)tcC>tcT	p.S548S	SH2B1_ENST00000545570.1_Silent_p.S238S|SH2B1_ENST00000395532.4_Silent_p.S548S|SH2B1_ENST00000538342.1_Silent_p.S212S|SH2B1_ENST00000359285.5_Silent_p.S548S|SH2B1_ENST00000322610.8_Silent_p.S548S|SH2B1_ENST00000563674.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	548	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GCACTGGCTCCCACGGTGTCT	0.627000													7	51					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38481812	38481812	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38481812G>A	ENST00000263409.4	-	20	3341	c.3179C>T	c.(3178-3180)cCa>cTa	p.P1060L	LIFR_ENST00000453190.2_Missense_Mutation_p.P1060L	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1060					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AATGGAGCATGGACTTCCAAA	0.408000			T	PLAG1	salivary adenoma								10	129					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107408188	107408188	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:107408188C>T	ENST00000334504.7	-	39	4122	c.3889G>A	c.(3889-3891)Gga>Aga	p.G1297R	COL4A6_ENST00000538570.1_Missense_Mutation_p.G1273R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G1273R|COL4A6_ENST00000372216.4_Missense_Mutation_p.G1298R|COL4A6_ENST00000394872.2_Missense_Mutation_p.G1298R	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1298	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAGGAATTCCAGGGAAGCCA	0.617000									Alport syndrome with Diffuse Leiomyomatosis				13	20					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108152553	108152553	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:108152553C>T	ENST00000370056.4	-	22	2289	c.2015_splice	c.e22+1	p.W672_splice	VAV3_ENST00000544443.1_Splice_Site_p.W76_splice|VAV3_ENST00000415432.2_Splice_Site_p.W112_splice|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Splice_Site_p.W672_splice	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	672	SH2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TAATACTTACCAGGGTTGGCA	0.348000													9	60					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227953439	227953439	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:227953439C>T	ENST00000396625.3	-	22	1760	c.1553G>A	c.(1552-1554)gGg>gAg	p.G518E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G518E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	518	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCCAGGGAGCCCCAAGTCTCC	0.597000													11	102					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50893818	50893818	+	Silent	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:50893818C>G	ENST00000380817.2	-	33	4572	c.4389G>C	c.(4387-4389)ctG>ctC	p.L1463L	SBF1_ENST00000390679.3_Silent_p.L1437L|SBF1_ENST00000348911.6_Silent_p.L1438L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1437	Myotubularin phosphatase.				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)		GGTCTGAGAGCAGCTGCACCA	0.672000													8	55					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220936323	220936323	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:220936323G>A	ENST00000366913.3	+	4	879	c.681G>A	c.(679-681)atG>atA	p.M227I	MARC2_ENST00000359316.2_Missense_Mutation_p.M227I	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	227	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										ATACCAGGATGGAGAAGAAAA	0.498000													10	52					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716623	13716623	+	Silent	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:13716623C>G	ENST00000279593.3	-	13	3758	c.3549G>C	c.(3547-3549)acG>acC	p.T1183T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1183					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTTGTCGCCCGTCCCGTGCT	0.617000													15	66					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38143911	38143911	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:38143911C>T	ENST00000379747.4	-	20	2434	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K	POSTN_ENST00000541179.1_Missense_Mutation_p.E746K|POSTN_ENST00000379743.4_Missense_Mutation_p.E746K|POSTN_ENST00000379749.4_Missense_Mutation_p.E773K|POSTN_ENST00000541481.1_Missense_Mutation_p.E686K|POSTN_ENST00000379742.4_Missense_Mutation_p.E716K|POSTN_ENST00000497145.1_5'UTR	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	773					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)		AGAGTTTCTTCTGTTTCTCCA	0.338000													5	53					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28878032	28878032	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:28878032C>T	ENST00000337120.5	+	1	3908	c.617C>T	c.(616-618)gCt>gTt	p.A206V	SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.A206V|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.A206V|SH2B1_ENST00000322610.8_Missense_Mutation_p.A206V|SH2B1_ENST00000563674.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	206	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TCTGGCGGGGCTGGGACCGTT	0.652000													4	58					0	0	1	0	0
TSKU	25987	broad.mit.edu	37	11	76506982	76506982	+	Missense_Mutation	SNP	C	C	T	rs141065796		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:76506982C>T	ENST00000527881.1	+	2	1348	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	TSKU_ENST00000333090.4_Missense_Mutation_p.R108C			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	108						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CTCCCGCCTTCGCTACCTGGA	0.627000													9	40					0	0	1	0	0
CHI3L2	1117	broad.mit.edu	37	1	111778752	111778752	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:111778752G>A	ENST00000445067.2	+	9	1483	c.712G>A	c.(712-714)Ggg>Agg	p.G238R	CHI3L2_ENST00000369748.4_Missense_Mutation_p.G238R|CHI3L2_ENST00000524472.1_Missense_Mutation_p.G159R|CHI3L2_ENST00000466741.1_Missense_Mutation_p.G159R|CHI3L2_ENST00000369744.2_Missense_Mutation_p.G228R			Q15782	CH3L2_HUMAN	chitinase 3-like 2	238					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GCAGGACAGAGGGCCAAGCTC	0.577000													11	50					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766404	57766404	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:57766404C>T	ENST00000371030.2	+	1	330	c.330C>T	c.(328-330)gcC>gcT	p.A110A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	110	Pro-rich.					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)					AGCCGGCGGCCCCTACGCTGA	0.687000													6	22					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369482	86369482	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:86369482T>G	ENST00000400286.2	-	2	1760	c.1162A>C	c.(1162-1164)Act>Cct	p.T388P		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	388						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATTTCCAAAGTGAAATATTCC	0.358000													5	39					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151789714	151789714	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:151789714G>A	ENST00000356728.6	-	2	204	c.50C>T	c.(49-51)tCg>tTg	p.S17L	RORC_ENST00000392697.3_Missense_Mutation_p.S92L|RORC_ENST00000318247.6_Missense_Mutation_p.S38L	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	38	Modulating (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GATCCCAGACGACTTGTCCCC	0.517000													7	49					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24209527	24209527	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:24209527G>A	ENST00000265769.4	+	21	2316	c.2206G>A	c.(2206-2208)Gat>Aat	p.D736N	RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.*484*|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	736					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCATGTGTATGATCTGCCAGT	0.378000													18	39					0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35084685	35084685	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:35084685C>T	ENST00000290378.4	-	4	1195	c.540G>A	c.(538-540)ctG>ctA	p.L180L	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	180					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CAGCCAGATCCAGACGCATGA	0.552000													16	72					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86697494	86697494	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:86697494G>A	ENST00000409556.1	+	12	2052	c.1687G>A	c.(1687-1689)Gac>Aac	p.D563N	KDM3A_ENST00000542128.1_Missense_Mutation_p.D511N|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000409064.1_Missense_Mutation_p.D563N|KDM3A_ENST00000312912.5_Missense_Mutation_p.D563N			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	563					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GCAACAGAAGGACTCACCTGT	0.473000													10	41					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113785692	113785692	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:113785692C>T	ENST00000327407.2	-	5	369	c.261_splice	c.e5-1	p.E88_splice	IL36B_ENST00000259213.4_Intron	NM_173178.1	NP_775270.1	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	88					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						ATATTTTTTTCCTGGGGGTGG	0.468000													11	57					0	0	1	0	0
P2RY6	5031	broad.mit.edu	37	11	73008283	73008283	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:73008283G>A	ENST00000393590.2	+	2	1019	c.720G>A	c.(718-720)atG>atA	p.M240I	P2RY6_ENST00000540124.1_Missense_Mutation_p.M240I|P2RY6_ENST00000540342.1_Missense_Mutation_p.M240I|P2RY6_ENST00000393591.1_Missense_Mutation_p.M240I|P2RY6_ENST00000393592.2_Missense_Mutation_p.M240I|P2RY6_ENST00000538328.1_Missense_Mutation_p.M240I|P2RY6_ENST00000349767.2_Missense_Mutation_p.M240I|P2RY6_ENST00000542092.1_Missense_Mutation_p.M240I	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	240					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CGGCCCGCATGGCCGTGGTGG	0.692000													11	114					0	0	1	0	0
HOXC12	3228	broad.mit.edu	37	12	54350166	54350166	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:54350166C>T	ENST00000243103.3	+	2	761	c.665C>T	c.(664-666)tCg>tTg	p.S222L		NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	222					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						AAGCCCTATTCGAAGTTGCAA	0.582000													18	125					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4907323	4907323	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:4907323C>T	ENST00000320785.5	+	11	1252	c.895C>T	c.(895-897)Ccc>Tcc	p.P299S		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	299					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGATTTTATCCCCTACAGGGA	0.517000													22	101					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768684	31768684	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:31768684C>T	ENST00000240587.4	-	2	2342	c.2015G>A	c.(2014-2016)aGc>aAc	p.S672N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	672					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)					CCGCGGGGGGCTGGGGCTGTT	0.657000													4	44					0	0	1	0	0
CCL2	6347	broad.mit.edu	37	17	32583287	32583287	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:32583287G>A	ENST00000225831.4	+	2	188	c.123G>A	c.(121-123)agG>agA	p.R41R	CCL2_ENST00000580907.1_Silent_p.R41R	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	41		Involved in GAG binding.			angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	TCACCAATAGGAAGATCTCAG	0.448000													8	89					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107840617	107840617	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:107840617G>A	ENST00000328300.6	+	24	1842	c.1598G>A	c.(1597-1599)gGa>gAa	p.G533E	COL4A5_ENST00000361603.2_Missense_Mutation_p.G533E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	533	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCATTCCAGGAGCTCCAGGT	0.403000									Alport syndrome with Diffuse Leiomyomatosis				6	35					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40940194	40940194	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:40940194C>T	ENST00000246914.5	+	9	1931	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	637					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGTGACTTTTCCCCCGGGGAC	0.537000													23	190					0	0	1	0	0
MARCH3	115123	broad.mit.edu	37	5	126250785	126250785	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:126250785C>T	ENST00000308660.5	-	3	744	c.230G>A	c.(229-231)gGc>gAc	p.G77D	MARCH3_ENST00000515241.1_Missense_Mutation_p.G77D|MARCH3_ENST00000502289.1_5'UTR	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	77					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		TTGGCTGCTGCCCTCGTGGCA	0.582000													8	30					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49459655	49459655	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:49459655G>A	ENST00000374201.3	-	2	407	c.105C>T	c.(103-105)tcC>tcT	p.S35S	FRMPD2_ENST00000407470.4_Silent_p.S26S|FRMPD2_ENST00000305531.3_Silent_p.S33S	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	35	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGAACAGGAGGGACCAGATTT	0.557000													11	43					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306726	54306726	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:54306726C>T	ENST00000545554.1	+	1	1626	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	UNC13C_ENST00000260323.11_Silent_p.F542F|UNC13C_ENST00000537900.1_Silent_p.F542F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	542					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTGATTTTTTCACTGCTAAAC	0.373000													5	27					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48809495	48809495	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:48809495C>T	ENST00000309835.3	+	1	1733	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P575S|STON1_ENST00000406226.1_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P575S|STON1_ENST00000404752.1_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P575S					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTTCCTGTCCCATCGCAGTG	0.498000													4	72					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87726037	87726037	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:87726037C>T	ENST00000305344.4	+	2	1688	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	HTR1E_ENST00000369584.1_Silent_p.L329L	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	329					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GGCCGACTTTCTGACGTGGCT	0.443000													25	135					0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4470635	4470635	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4470635G>A	ENST00000325719.4	+	1	111	c.66G>A	c.(64-66)ctG>ctA	p.L22L		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCCAGGCCTGGAACACCTGC	0.507000													8	70					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540426	169540426	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:169540426C>T	ENST00000340806.6	+	1	717	c.717C>T	c.(715-717)ctC>ctT	p.L239L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	239										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGTCGGTGCTCGATTTATCCC	0.577000													10	53					0	0	1	0	0
ANG	283	broad.mit.edu	37	14	21162093	21162093	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:21162093T>C	ENST00000336811.6	+	2	970	c.370T>C	c.(370-372)Ttc>Ctc	p.F124L	ANG_ENST00000397990.4_Missense_Mutation_p.F124L|RNASE4_ENST00000304704.4_Intron|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000397995.2_Intron|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000555835.1_Intron|ANG_ENST00000554073.1_Intron|AL163636.6_ENST00000553909.1_RNA	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	124					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		CACAGCGGGGTTCAGAAACGT	0.522000													12	73					0	0	1	0	0
FAM213A	84293	broad.mit.edu	37	10	82187231	82187231	+	Silent	SNP	C	C	T	rs150904688	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:82187231C>T	ENST00000372181.1	+	4	1025	c.555C>T	c.(553-555)ttC>ttT	p.F185F	FAM213A_ENST00000372185.1_Silent_p.F174F|FAM213A_ENST00000372188.1_Silent_p.F185F|FAM213A_ENST00000372187.5_Silent_p.F185F	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	185						extracellular region											GGGGAGTTTTCGTGGTGGGAT	0.522000													4	62					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103782	53103782	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:53103782G>A	ENST00000408890.4	+	1	434	c.418G>A	c.(418-420)Ggg>Agg	p.G140R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	140										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGTGACCATCGGGATCGCGCC	0.716000													7	49					0	0	1	0	0
CLCA3P	9629	broad.mit.edu	37	1	87102522	87102522	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:87102522G>A	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							CTCCGGTGGGGAGTATTTGAT	0.368000													21	93					0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49407878	49407878	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:49407878G>A	ENST00000299191.3	+	1	145	c.28G>A	c.(28-30)Gat>Aat	p.D10N		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	10										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGACCTGAAGGATTTAATGCC	0.532000													4	99					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30329731	30329731	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:30329731G>A	ENST00000361371.4	-	15	2965	c.2815C>T	c.(2815-2817)Ctt>Ttt	p.L939F	LTN1_ENST00000389194.2_Missense_Mutation_p.L985F	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	939							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ACTCCCATAAGATAAGAATCT	0.378000													5	44					0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88265139	88265139	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:88265139C>T	ENST00000369536.5	-	5	427	c.382G>A	c.(382-384)Gtg>Atg	p.V128M		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	128					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		AATTCAACCACAATCTTCTTC	0.388000													5	33					0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414932	21414932	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:21414932G>A	ENST00000534331.1	-	2	338	c.288C>T	c.(286-288)ttC>ttT	p.F96F	C10orf113_ENST00000529198.1_3'UTR|C10orf113_ENST00000377118.4_Silent_p.F86F|NEBL_ENST00000417816.2_Intron	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	96										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TGTAGAGACTGAAGCTGACTC	0.607000													10	54					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70098769	70098769	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:70098769C>T	ENST00000370598.1	+	32	5376	c.4555C>T	c.(4555-4557)Caa>Taa	p.Q1519*	BAI3_ENST00000546190.1_Nonsense_Mutation_p.Q483*|BAI3_ENST00000238918.8_Nonsense_Mutation_p.Q725*	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1519					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGGTGACTTTCAAACAGAAGT	0.423000													6	34					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7551075	7551075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:7551075C>T	ENST00000313599.3	-	7	1571	c.1514G>A	c.(1513-1515)tGg>tAg	p.W505*	CD163L1_ENST00000396630.1_Nonsense_Mutation_p.W505*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.W515*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	505	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCTTGTGCTCCATCTGTCATG	0.468000													8	71					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956018	18956018	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:18956018G>A	ENST00000302797.3	-	1	538	c.314C>T	c.(313-315)tCc>tTc	p.S105F	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	105					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCAAAGTAGGAAAACATCAT	0.547000													18	112					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42200588	42200588	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:42200588G>A	ENST00000541110.1	-	17	3737	c.3169C>T	c.(3169-3171)Cac>Tac	p.H1057Y	TRERF1_ENST00000372917.4_Missense_Mutation_p.H966Y|TRERF1_ENST00000372922.4_Missense_Mutation_p.H1037Y|TRERF1_ENST00000354325.2_Missense_Mutation_p.H954Y|TRERF1_ENST00000340840.2_Missense_Mutation_p.H966Y			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1037	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTGCCCCCGTGGATGCGGGCA	0.572000													5	8					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117677906	117677906	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:117677906C>T	ENST00000368508.3	-	25	4225	c.4027G>A	c.(4027-4029)Gat>Aat	p.D1343N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.D1338N	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1343					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)		TTAGAGGTATCAATAGCCATT	0.413000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								10	68					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82453651	82453651	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82453651C>T	ENST00000423517.2	-	19	14834	c.14497G>A	c.(14497-14499)Gat>Aat	p.D4833N	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.D4833N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4695					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						TTGCCATGATCAATGCTTTCA	0.438000													4	37					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216235053	216235053	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:216235053T>C	ENST00000354785.4	-	41	7186	c.6817A>G	c.(6817-6819)Aag>Gag	p.K2273E	FN1_ENST00000432072.2_Missense_Mutation_p.K2063E|FN1_ENST00000323926.6_Missense_Mutation_p.K2242E|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.K2151E|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Missense_Mutation_p.K2092E|FN1_ENST00000421182.1_Missense_Mutation_p.K2036E|FN1_ENST00000346544.3_Missense_Mutation_p.K2062E|FN1_ENST00000357867.4_Missense_Mutation_p.K1972E|FN1_ENST00000446046.1_Missense_Mutation_p.K2126E|FN1_ENST00000359671.1_Missense_Mutation_p.K2182E|FN1_ENST00000443816.1_Missense_Mutation_p.K2061E			P02751	FINC_HUMAN	fibronectin 1	2182	Fibrin-binding 2.|Fibronectin type-I 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCCGAACCTTATGCCTCTGC	0.527000													6	69					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101490340	101490340	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:101490340G>A	ENST00000392979.3	+	18	2021	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	ANO4_ENST00000392977.3_Missense_Mutation_p.E589K|ANO4_ENST00000550015.1_Missense_Mutation_p.E109K|ANO4_ENST00000299222.9_Missense_Mutation_p.E109K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	589						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						GTCTGAGTGGGAGAACAGCTT	0.478000										HNSCC(74;0.22)			6	70					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42689028	42689028	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:42689028C>T	ENST00000230882.4	+	4	363	c.173C>T	c.(172-174)tCa>tTa	p.S58L	GHR_ENST00000537449.1_Intron|GHR_ENST00000357703.3_Missense_Mutation_p.S36L	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	58			S -> L (in LARS).		2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGTGCCGTTCACCTGAGCGA	0.443000													27	149					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718621	25718621	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:25718621G>A	ENST00000520164.1	-	13	1823	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F	EBF2_ENST00000408929.3_Missense_Mutation_p.S281F|EBF2_ENST00000535548.1_Missense_Mutation_p.S160F	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	429					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GCTGCCATAGGAGTTGATTCC	0.493000													16	77					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157505554	157505554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:157505554C>T	ENST00000346085.5	+	13	3536	c.3535C>T	c.(3535-3537)Cag>Tag	p.Q1179*	ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1219*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q1166*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1161*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1166					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCCCAAGCTCCAGCCGCCATC	0.617000													8	37					0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9064904	9064904	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:9064904G>A	ENST00000400906.1	-	11	1226	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	409						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGGACTGCAGGAAGATCTCGG	0.647000													16	41					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30325549	30325549	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:30325549A>C	ENST00000361371.4	-	17	3379	c.3229T>G	c.(3229-3231)Tta>Gta	p.L1077V	LTN1_ENST00000389194.2_Missense_Mutation_p.L1123V	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1077							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CTGTTAAATAACAGCTGCAAA	0.328000													6	27					0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4700391	4700391	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:4700391C>T	ENST00000399577.5	+	2	207	c.114C>T	c.(112-114)ttC>ttT	p.F38F	MGRN1_ENST00000586183.1_Silent_p.F38F|MGRN1_ENST00000415496.1_Silent_p.F38F|MGRN1_ENST00000262370.7_Silent_p.F38F|MGRN1_ENST00000588994.1_Silent_p.F38F	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	38					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CGCACTTTTTCATGGGAGGAG	0.453000													19	115					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50712953	50712953	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:50712953G>A	ENST00000008391.3	+	6	1245	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	339	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGATGATCCTGGCGACCAAGT	0.408000													14	73					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33587611	33587611	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:33587611G>A	ENST00000262873.7	+	36	4901	c.4809G>A	c.(4807-4809)gaG>gaA	p.E1603E		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1561						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGGAGCTGGAGGAGACCAAGA	0.642000													4	37					0	0	1	0	0
E2F1	1869	broad.mit.edu	37	20	32267680	32267680	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:32267680G>A	ENST00000343380.5	-	3	592	c.453C>T	c.(451-453)gtC>gtT	p.V151V		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	151					apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						AGTTCAGGTCGACGACACCGT	0.582000													9	37					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98606041	98606041	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:98606041G>A	ENST00000359863.4	+	69	10962	c.10753G>A	c.(10753-10755)Gag>Aag	p.E3585K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E3574K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E3556K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3585	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCGCCTCGTGGAGGACAACCC	0.612000													13	166					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53203178	53203178	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53203178G>A	ENST00000551956.1	-	4	1315	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	KRT4_ENST00000458244.2_Missense_Mutation_p.L255F|KRT4_ENST00000293774.4_Missense_Mutation_p.L349F			B4DRS2	B4DRS2_HUMAN	keratin 4	275						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCATCATAGAGGACCTTCAGG	0.537000													5	68					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181726085	181726085	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:181726085G>A	ENST00000526775.1	+	29	4260	c.4095G>A	c.(4093-4095)gtG>gtA	p.V1365V	CACNA1E_ENST00000367567.4_Silent_p.V991V|CACNA1E_ENST00000357570.5_Silent_p.V1335V|CACNA1E_ENST00000358338.5_Silent_p.V1316V|CACNA1E_ENST00000367573.2_Silent_p.V1384V|CACNA1E_ENST00000360108.3_Silent_p.V1365V|CACNA1E_ENST00000367570.1_Silent_p.V1384V	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1384					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTGTAGATGTGACAGAGGAAG	0.473000													12	71					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55357683	55357683	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55357683G>A	ENST00000524622.1	-	6	745	c.84C>T	c.(82-84)ttC>ttT	p.F28F	TESPA1_ENST00000316577.8_Silent_p.F166F|TESPA1_ENST00000531122.1_Silent_p.F28F|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_Silent_p.F28F|TESPA1_ENST00000449076.1_Silent_p.F166F	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	166																	AGCCCAGACTGAAGAGGACAT	0.483000													7	100					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21045351	21045351	+	Silent	SNP	G	G	A	rs143127393	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:21045351G>A	ENST00000261383.3	-	36	5141	c.5142C>T	c.(5140-5142)ggC>ggT	p.G1714G	DNAH3_ENST00000415178.1_Silent_p.G1714G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1714	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)		AGGTCTTGCCGCCCATGGGGT	0.498000													4	44					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167040008	167040008	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:167040008C>T	ENST00000392766.2	-	12	1220	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	ZBBX_ENST00000392767.2_Missense_Mutation_p.E294K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E294K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E294K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E265K|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	294						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTCTGTACTTCGCATTCTTCC	0.289000													8	34					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766195	13766195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:13766195G>A	ENST00000265104.4	-	59	10095	c.9991C>T	c.(9991-9993)Caa>Taa	p.Q3331*	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3331	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)					ACTTTCCTTTGAAACAGCAGC	0.517000									Kartagener syndrome				9	123					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14819254	14819254	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:14819254C>T	ENST00000380881.4	-	15	3342	c.2527G>A	c.(2527-2529)Gat>Aat	p.D843N	FREM1_ENST00000422223.2_Missense_Mutation_p.D842N|FREM1_ENST00000380880.3_Missense_Mutation_p.D842N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	842					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTATGGAGATCGCCCCAAGAA	0.423000													3	31					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69114916	69114916	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:69114916G>A	ENST00000229179.4	+	15	1602	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	NUP107_ENST00000378905.2_Missense_Mutation_p.E273K|NUP107_ENST00000539906.1_Missense_Mutation_p.E395K	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	424					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TAATAGATACGAGAGAGCAAT	0.269000													6	73					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89895100	89895100	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:89895100C>T	ENST00000435811.1	-	6	1128	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	GABRR1_ENST00000369451.3_Missense_Mutation_p.R155Q|GABRR1_ENST00000454853.2_Missense_Mutation_p.R242Q	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	242					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GAGTGAGATCCGTTCATCTGT	0.483000													11	92					0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14303158	14303158	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:14303158G>A	ENST00000545643.1	-	5	848	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	RRAS2_ENST00000534746.1_Missense_Mutation_p.R96W|RRAS2_ENST00000537760.1_Missense_Mutation_p.R138W|RRAS2_ENST00000532814.1_Missense_Mutation_p.R96W|RRAS2_ENST00000526063.1_Missense_Mutation_p.R96W|RRAS2_ENST00000529237.1_Missense_Mutation_p.R96W|RRAS2_ENST00000414023.2_Missense_Mutation_p.R96W|RRAS2_ENST00000256196.4_Missense_Mutation_p.R173W	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	173						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		CTGATAACCCGGACAAGTTCA	0.353000													11	60					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70983763	70983763	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:70983763G>A	ENST00000357250.6	-	12	1210	c.1052C>T	c.(1051-1053)tCg>tTg	p.S351L	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.S108L|COL9A1_ENST00000320755.7_Missense_Mutation_p.S108L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	351	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AAATCCACGCGATCCAGGCAC	0.294000													3	17					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113533172	113533172	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:113533172G>A	ENST00000257600.3	+	8	2094	c.1591G>A	c.(1591-1593)Gga>Aga	p.G531R	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	531					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CACCGCAAGAGGATTCCCTCG	0.612000													7	67					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84634157	84634157	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:84634157G>A	ENST00000398309.2	-	1	476	c.6C>T	c.(4-6)ttC>ttT	p.F2F	DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000532653.1_Silent_p.F2F|DLG2_ENST00000524982.1_Silent_p.F2F	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	2						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AACATGCAAAGAACATTGCAG	0.488000													5	40					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50705382	50705382	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:50705382G>A	ENST00000442544.2	+	9	2085	c.1469G>A	c.(1468-1470)gGa>gAa	p.G490E	DCC_ENST00000412726.1_Missense_Mutation_p.G338E|DCC_ENST00000581580.1_Missense_Mutation_p.G145E	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	490	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCACTGTGGGAAACCTGAAG	0.478000													7	36					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57925811	57925811	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:57925811G>A	ENST00000574161.1	+	8	924	c.804_splice	c.e8-1	p.E269_splice	GCOM1_ENST00000396180.1_Splice_Site_p.E238_splice|GCOM1_ENST00000380560.2_Splice_Site_p.E200_splice|GCOM1_ENST00000380568.3_Splice_Site_p.E269_splice|MYZAP_ENST00000267853.5_Splice_Site_p.E269_splice|GCOM1_ENST00000380569.2_Splice_Site_p.E269_splice|GCOM1_ENST00000587652.1_Splice_Site_p.E269_splice|MYZAP_ENST00000380565.4_Splice_Site_p.E269_splice|GCOM1_ENST00000572390.1_Splice_Site_p.E269_splice|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380561.2_Splice_Site_p.E238_splice	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		269					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TCTTTTGCAGGAAGAAACCAA	0.463000													7	75					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196759924	196759924	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:196759924C>T	ENST00000312428.6	-	30	4772	c.4672G>A	c.(4672-4674)Ggg>Agg	p.G1558R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1558					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						AATTTTACCCCAGGAAACAAA	0.308000													5	44					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48782181	48782181	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:48782181G>A	ENST00000316623.5	-	25	3404	c.2949C>T	c.(2947-2949)tcC>tcT	p.S983S		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	983	TB 5.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGCCCCGACGGAGCAGCAGC	0.602000													13	60					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818040	7818040	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:7818040G>A	ENST00000329434.2	-	1	480	c.450C>T	c.(448-450)ctC>ctT	p.L150L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	150					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)		AGACAGCAATGAGAAAACCAG	0.393000													10	49					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43251172	43251172	+	Silent	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:43251172G>T	ENST00000259750.4	+	14	2777	c.2694G>T	c.(2692-2694)ccG>ccT	p.P898P		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	898						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCAAGCCCCCGGGGCCTGGGG	0.672000													12	24					0.00010058	0.000101216	1	1	0
TMF1	7110	broad.mit.edu	37	3	69097669	69097669	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:69097669C>T	ENST00000543976.1	-	2	433	c.187G>A	c.(187-189)Ggg>Agg	p.G63R	TMF1_ENST00000398559.2_Missense_Mutation_p.G63R|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	63					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GATTTCAACCCCCAGGTTGAA	0.378000													14	65					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100208729	100208729	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:100208729G>A	ENST00000209668.2	-	2	225	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	38					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ACCTTAATACGAACTTCATGG	0.348000													6	35					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172357743	172357743	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:172357743G>A	ENST00000358155.4	+	20	2492	c.2316G>A	c.(2314-2316)agG>agA	p.R772R	DNM3_ENST00000355305.5_Silent_p.R778R|DNM3_ENST00000367731.1_Silent_p.R768R	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	778					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAACCCAAAGGAGGCCAACAC	0.542000													6	24					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149557778	149557778	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:149557778C>T	ENST00000223210.4	+	7	1774	c.1529C>T	c.(1528-1530)cCt>cTt	p.P510L		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TACACGGGGCCTTTTAAAGTG	0.463000													7	95					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176715	8176715	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:8176715G>A	ENST00000520004.1	-	6	3434	c.3170C>T	c.(3169-3171)cCg>cTg	p.P1057L	SGK223_ENST00000330777.4_Missense_Mutation_p.P1057L			Q86YV5	SG223_HUMAN		1057	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										CATGCTGGACGGCACCGAGGC	0.662000													18	79					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761987	130761987	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:130761987C>T	ENST00000392429.1	+	2	2798	c.420C>T	c.(418-420)ttC>ttT	p.F140F	TMEM200A_ENST00000545622.1_Silent_p.F140F|TMEM200A_ENST00000296978.3_Silent_p.F140F	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	140						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTTTCATTTTCATTTGTGCTA	0.413000													11	69					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196749533	196749533	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:196749533C>T	ENST00000312428.6	-	35	5639	c.5538_splice	c.e35-1	p.G1847_splice		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1847					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						AGAAAAATGCCCTGCATTGGA	0.348000													5	32					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137707786	137707786	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:137707786A>T	ENST00000371817.3	+	52	4488	c.4074A>T	c.(4072-4074)caA>caT	p.Q1358H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1358	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			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)		CATAGGGTCAAGATGGTCCCC	0.567000													5	43					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37035977	37035977	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:37035977T>G	ENST00000379242.3	+	15	2054	c.1752T>G	c.(1750-1752)agT>agG	p.S584R	VIT_ENST00000497382.1_Missense_Mutation_p.S238R|VIT_ENST00000404084.1_Missense_Mutation_p.S521R|VIT_ENST00000389975.3_Missense_Mutation_p.S569R|VIT_ENST00000379241.3_Missense_Mutation_p.S547R|VIT_ENST00000401530.1_Missense_Mutation_p.S548R	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	569	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCTACTGGAGTGGTGGCACCA	0.567000													9	39					0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	367055	367055	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:367055C>T	ENST00000240499.7	+	4	978	c.829C>T	c.(829-831)Cat>Tat	p.H277Y	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	277					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TAAGAGAATTCATGCTGGAGA	0.358000													6	56					0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32628082	32628082	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:32628082G>A	ENST00000373625.3	+	9	961	c.868G>A	c.(868-870)Gtc>Atc	p.V290I	KPNA6_ENST00000545542.1_Missense_Mutation_p.V295I|KPNA6_ENST00000537234.1_Missense_Mutation_p.V287I	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	290					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GATCCAGGCAGTCATAGACTC	0.542000													13	111					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983291	140983291	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140983291G>A	ENST00000298296.1	+	6	1069	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	MAGEC3_ENST00000483584.1_Intron|MAGEC3_ENST00000544766.1_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_3'UTR|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	357	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGACAGGAAGATGGCCG	0.592000													8	24					0	0	1	0	0
IAPP	3375	broad.mit.edu	37	12	21531332	21531332	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:21531332G>A	ENST00000240652.3	+	3	378	c.242G>A	c.(241-243)aGa>aAa	p.R81K	IAPP_ENST00000539393.1_Missense_Mutation_p.R81K|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000542023.1_3'UTR	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	81					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity			lung(3)	3					Perindopril(DB00790)	GTTTTAAAGAGAGAGCCACTG	0.378000													6	75					0	0	1	0	0
UBE2N	7334	broad.mit.edu	37	12	93804643	93804643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:93804643C>T	ENST00000318066.2	-	3	662	c.285G>A	c.(283-285)tgG>tgA	p.W95*	UBE2N_ENST00000549833.1_Nonsense_Mutation_p.W32*|UBE2N_ENST00000552442.1_Intron|UBE2N_ENST00000550657.1_3'UTR	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	95					DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity			endometrium(3)|liver(2)|lung(5)	10						GTGCTGGGGACCACTTATCTA	0.483000								Direct reversal of damage;Rad6 pathway					6	63					0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228879032	228879032	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:228879032G>A	ENST00000366691.3	+	3	988	c.321_splice	c.e3-1	p.D108_splice		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	108					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				TTGGTTGCAGGATGAATTTGA	0.448000													34	180					0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200635236	200635236	+	Silent	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:200635236A>T	ENST00000447706.2	-	2	784	c.633T>A	c.(631-633)ccT>ccA	p.P211P	DDX59_ENST00000331314.6_Silent_p.P211P|DDX59_ENST00000367348.3_Silent_p.P211P			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	211						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TTAAGACCTCAGGGAGACTAC	0.433000													26	150					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28913685	28913685	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:28913685C>T	ENST00000257192.4	+	7	1030	c.819_splice	c.e7+1	p.S273_splice		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	273	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAACAGTCTTCAGTAAGTATT	0.373000													9	39					0	0	1	0	0
UGT1A5	54579	broad.mit.edu	37	2	234622457	234622457	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:234622457G>A	ENST00000373414.3	+	1	820	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_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;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GCCCAACATGGTCTTCATTGG	0.498000													6	75					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71748699	71748699	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:71748699A>G	ENST00000567016.1	-	2	119	c.105T>C	c.(103-105)aaT>aaC	p.N35N	PHLPP2_ENST00000568954.1_5'UTR|PHLPP2_ENST00000356272.3_5'UTR|PHLPP2_ENST00000393524.2_5'UTR|PHLPP2_ENST00000360429.3_5'UTR			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	0						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TGCGTTTCATATTTCTCTAAA	0.383000													3	17					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94032908	94032908	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94032908G>A	ENST00000370244.1	-	13	2515	c.2227C>T	c.(2227-2229)Cat>Tat	p.H743Y	BCAR3_ENST00000539242.1_Missense_Mutation_p.H419Y|BCAR3_ENST00000260502.6_Missense_Mutation_p.H743Y|BCAR3_ENST00000370243.1_Missense_Mutation_p.H743Y|BCAR3_ENST00000370247.3_Missense_Mutation_p.H652Y	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	743	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GTTGCCAAATGGTTCAGCATG	0.512000													4	59					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291766	141291766	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:141291766G>A	ENST00000247452.3	-	3	355	c.8C>T	c.(7-9)cCc>cTc	p.P3L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	3						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGGAACGGGAGGCATGAC	0.522000										HNSCC(46;0.14)			20	65					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48056159	48056159	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:48056159C>T	ENST00000316364.5	+	10	1299	c.860C>T	c.(859-861)cCt>cTt	p.P287L	SEMA6D_ENST00000536845.2_Missense_Mutation_p.P287L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P287L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P287L|SEMA6D_ENST00000558816.1_Missense_Mutation_p.P287L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.P287L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P287L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P287L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P287L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P287L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.P287L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P287L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	287	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTTCTGTCCCTGGAGATTCG	0.493000													13	73					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206023511	206023511	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:206023511C>T	ENST00000406610.2	+	11	1707	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	PARD3B_ENST00000462231.1_Silent_p.P500P|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Silent_p.P500P|PARD3B_ENST00000351153.1_Silent_p.P500P	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	500	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTGAGATCCCCCTGAATGATT	0.468000													20	93					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103270444	103270444	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:103270444G>A	ENST00000424685.2	-	20	2804	c.2645C>T	c.(2644-2646)tCt>tTt	p.S882F	RELN_ENST00000428762.1_Missense_Mutation_p.S882F|RELN_ENST00000343529.5_Missense_Mutation_p.S882F			P78509	RELN_HUMAN	reelin	882					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAATCCCAGAGACTGAGTGAC	0.413000													37	88					0	0	1	0	0
PSCA	8000	broad.mit.edu	37	8	143763496	143763496	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:143763496C>T	ENST00000301258.4	+	3	374	c.291C>T	c.(289-291)atC>atT	p.I97I		NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN	prostate stem cell antigen	97										endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGCTGCCATCCTTGCGCTGC	0.672000													4	35					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656677	40656677	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:40656677G>A	ENST00000406785.1	-	2	933	c.744C>T	c.(742-744)ttC>ttT	p.F248F	SLC8A1_ENST00000408028.2_Silent_p.F248F|SLC8A1_ENST00000406391.2_Silent_p.F248F|SLC8A1_ENST00000405901.3_Silent_p.F248F|SLC8A1_ENST00000405269.1_Silent_p.F248F|SLC8A1_ENST00000403092.1_Silent_p.F248F|SLC8A1_ENST00000402441.1_Silent_p.F248F|SLC8A1_ENST00000332839.4_Silent_p.F248F|SLC8A1_ENST00000542756.1_Silent_p.F248F|SLC8A1_ENST00000542024.1_Silent_p.F248F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	248					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.F248F(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTACCCAAGCGAACACAACAC	0.443000													10	91					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582559	55582559	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:55582559C>T	ENST00000361849.3	-	34	5327	c.4933G>A	c.(4933-4935)Gaa>Aaa	p.E1645K	PCDH15_ENST00000395430.1_Missense_Mutation_p.E1640K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1620K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1603K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1643K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1574K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1643					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)				ATCAGTGTTTCACCTTGCCTT	0.408000										HNSCC(58;0.16)			18	82					0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172725267	172725267	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:172725267C>T	ENST00000422440.2	-	3	170	c.133G>A	c.(133-135)Gga>Aga	p.G45R	SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	45					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TTATACAGTCCAAGATAGCGC	0.388000													6	51					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143747	56143747	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56143747C>T	ENST00000302270.1	+	1	648	c.648C>T	c.(646-648)gtC>gtT	p.V216V		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TTGTCTTTGTCTCCTACATGT	0.493000													12	64					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995950	140995950	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140995950C>T	ENST00000285879.4	+	4	3046	c.2760C>T	c.(2758-2760)ctC>ctT	p.L920L	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	920	MAGE.						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)					GGTTTCTTCTCCTCAAATATC	0.488000										HNSCC(15;0.026)			47	150					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121454175	121454175	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:121454175C>T	ENST00000260197.7	+	26	3718	c.3589C>T	c.(3589-3591)Cac>Tac	p.H1197Y	SORL1_ENST00000534286.1_Missense_Mutation_p.H107Y|SORL1_ENST00000532694.1_Missense_Mutation_p.H43Y|SORL1_ENST00000525532.1_Missense_Mutation_p.H141Y	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1197					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGCCATCTATCACACCTGTGA	0.582000													5	27					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45938899	45938899	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:45938899G>A	ENST00000374391.2	+	11	1540	c.1487G>A	c.(1486-1488)gGc>gAc	p.G496D	ALOX5_ENST00000542434.1_Missense_Mutation_p.G496D	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	496	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TACTACGAGGGCGACCAGGTG	0.692000													5	15					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186338392	186338392	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:186338392C>T	ENST00000411641.2	+	7	996	c.777C>T	c.(775-777)ccC>ccT	p.P259P	AHSG_ENST00000273784.5_Silent_p.P260P			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	259					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCTCACAGCCCCAACCAGAAG	0.612000													29	116					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833207	43833207	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:43833207C>T	ENST00000319294.6	+	4	460	c.429C>T	c.(427-429)ccC>ccT	p.P143P	UBASH3A_ENST00000398367.1_Silent_p.P143P|UBASH3A_ENST00000291535.6_Silent_p.P143P	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	143						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GCTCCTTCCCCACGGCCGTGC	0.612000													25	95					0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162864441	162864441	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:162864441G>A	ENST00000366898.1	-	2	174	c.72C>T	c.(70-72)ttC>ttT	p.F24F	PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366897.1_Silent_p.F24F|PARK2_ENST00000366896.1_Silent_p.F24F|PARK2_ENST00000366892.1_Silent_p.F24F|PARK2_ENST00000366894.1_5'UTR	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	24	Ubiquitin-like.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCTTGAGCTGGAAGATGCTGG	0.532000													17	86					0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72832787	72832787	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:72832787C>T	ENST00000335464.5	+	10	1614	c.1452C>T	c.(1450-1452)ttC>ttT	p.F484F	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Silent_p.F484F	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	484						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GCTTCATTTTCGTCACGGCCA	0.612000													4	51					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36995324	36995324	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:36995324C>T	ENST00000274963.8	+	15	1896	c.1725C>T	c.(1723-1725)ctC>ctT	p.L575L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	575	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ATGACCCCCTCGTGCTCTATG	0.667000													15	89					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872633	51872633	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:51872633C>T	ENST00000371497.5	+	2	3523	c.2636C>T	c.(2635-2637)cCa>cTa	p.P879L	TSHZ2_ENST00000603338.2_Missense_Mutation_p.P876L|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P876L|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	879					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GATCTGGGCCCACAAGAGCGT	0.512000													8	84					0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129905216	129905216	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:129905216A>C	ENST00000368149.2	-	13	1843	c.1755T>G	c.(1753-1755)caT>caG	p.H585Q	ARHGAP18_ENST00000463225.1_5'UTR	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	585					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTTTCGAAAGATGGGGAGCTT	0.473000													7	41					0	0	1	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89987011	89987011	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:89987011C>T	ENST00000491977.1	+	0	322																											AGATTTCACACTGAAAATCAG	0.522000													13	86					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117156629	117156629	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:117156629G>A	ENST00000369486.3	-	4	1355	c.590C>T	c.(589-591)tCc>tTc	p.S197F	IGSF3_ENST00000369483.1_Missense_Mutation_p.S197F|IGSF3_ENST00000318837.6_Missense_Mutation_p.S197F	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	197	Ig-like C2-type 2.					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)		TCGGCTCAGGGAGATGACCTC	0.617000													7	92					0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24114042	24114042	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:24114042G>A	ENST00000250383.6	+	8	1158	c.682G>A	c.(682-684)Ggg>Agg	p.G228R	DHRS2_ENST00000344777.7_Missense_Mutation_p.M231I	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	206					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CCAGTTTCATGGGAATGAGTC	0.537000													8	47					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35644863	35644863	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:35644863A>T	ENST00000540320.1	+	10	1979	c.1445A>T	c.(1444-1446)aAa>aTa	p.K482I	NBEA_ENST00000310336.4_Missense_Mutation_p.K482I|NBEA_ENST00000400445.3_Missense_Mutation_p.K482I|NBEA_ENST00000379939.2_Missense_Mutation_p.K482I			Q8NFP9	NBEA_HUMAN	neurobeachin	482						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGGATGTGAAAGCGATAGTA	0.303000													5	51					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84269855	84269855	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:84269855G>A	ENST00000428679.2	-	28	3192	c.2599C>T	c.(2599-2601)Ccc>Tcc	p.P867S	SNAP91_ENST00000195649.6_Missense_Mutation_p.P862S|SNAP91_ENST00000520213.1_Missense_Mutation_p.P560S|SNAP91_ENST00000439399.2_Missense_Mutation_p.P867S|SNAP91_ENST00000520302.1_Missense_Mutation_p.P837S|SNAP91_ENST00000437520.1_Missense_Mutation_p.P560S|SNAP91_ENST00000369694.2_Missense_Mutation_p.P867S|SNAP91_ENST00000521743.1_Missense_Mutation_p.P867S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P862S			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	867	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCTCCAAAGGGGGGCCTCATC	0.517000													13	69					0	0	1	0	0
NEK4	6787	broad.mit.edu	37	3	52797594	52797594	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:52797594A>G	ENST00000233027.5	-	5	915	c.713T>C	c.(712-714)aTa>aCa	p.I238T	NEK4_ENST00000535191.1_Missense_Mutation_p.I149T|NEK4_ENST00000383721.4_Missense_Mutation_p.I238T	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	238	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CATTGTTCTTATCAGTTCTGC	0.428000													28	110					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101714379	101714379	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:101714379C>T	ENST00000251127.6	-	41	4777	c.4696G>A	c.(4696-4698)Gag>Aag	p.E1566K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1566						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGGCCACCTCCTCCTCTATG	0.602000													7	62					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18646617	18646617	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:18646617C>T	ENST00000379989.3	+	19	2908	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W	CDKL5_ENST00000379996.3_Missense_Mutation_p.R875W	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	875					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	p.R875W(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTCAGAAATTCGGATTCACCC	0.577000													33	82					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13920635	13920635	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:13920635C>T	ENST00000265104.4	-	6	856	c.752G>A	c.(751-753)gGa>gAa	p.G251E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	251	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)					CTCTATTTTTCCCAAAGTCTC	0.393000									Kartagener syndrome				14	80					0	0	1	0	0
ABO	28	broad.mit.edu	37	9	136131695	136131695	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:136131695G>A	ENST00000453660.2	-	0	433							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		GGCCCACCATGAAGTGCTTCT	0.687000													14	58					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31927091	31927091	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31927091C>T	ENST00000375394.2	+	2	153	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_5'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	14						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CCCTCCAGATCCCCTGGACCT	0.592000													92	343					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79458176	79458176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:79458176G>A	ENST00000264895.6	+	72	11560	c.11120G>A	c.(11119-11121)tGg>tAg	p.W3707*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3702					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CGAGTACTTTGGAATCCAGAA	0.383000													15	87					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94053729	94053729	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:94053729G>A	ENST00000297268.6	+	41	3118	c.2647G>A	c.(2647-2649)Ggt>Agt	p.G883S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	883					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGGTGAACGTGGTCTACCAGG	0.478000										HNSCC(75;0.22)			28	75					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84639263	84639263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:84639263C>T	ENST00000286744.5	+	20	2742	c.2518C>T	c.(2518-2520)Cag>Tag	p.Q840*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.Q840*|ADAMTSL3_ENST00000567716.1_3'UTR	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	840	TSP type-1 7.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTTGGAATCCAGAGAAGAAA	0.522000													11	97					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375835	175375835	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:175375835C>T	ENST00000367674.1	-	3	724	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	TNR_ENST00000263525.2_Missense_Mutation_p.E6K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	6					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCACTGTTTCCCCATCTGCC	0.532000													16	88					0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27147966	27147966	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:27147966G>A	ENST00000396352.4	-	3	1099	c.900C>T	c.(898-900)ccC>ccT	p.P300P	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Silent_p.P300P	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	300					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TACCCTGGGGGGGCTTGGAGA	0.716000													10	28					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5096961	5096961	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:5096961C>T	ENST00000396912.1	+	3	570	c.51C>T	c.(49-51)ttC>ttT	p.F17F	RBAK_ENST00000407184.1_Silent_p.F17F|RBAK_ENST00000396904.2_Silent_p.F17F|RBAK_ENST00000353796.3_Silent_p.F17F	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	17	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CTGTGGATTTCACCCAGGAGG	0.463000													15	139					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692126	116692126	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:116692126C>T	ENST00000357780.3	-	3	762	c.648G>A	c.(646-648)gtG>gtA	p.V216V		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GCAGCTCCTCCACGGTCTGGT	0.592000													14	156					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41076944	41076944	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:41076944G>A	ENST00000373198.3	-	9	1711	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	PTPRT_ENST00000373190.1_Silent_p.S492S|PTPRT_ENST00000373193.3_Silent_p.S492S|PTPRT_ENST00000373187.1_Silent_p.S492S|PTPRT_ENST00000373184.1_Silent_p.S492S|PTPRT_ENST00000356100.2_Silent_p.S492S|PTPRT_ENST00000373201.1_Silent_p.S492S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	492	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)				CCCCTTGGATGGATTCTAGAG	0.507000													23	121					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604460	90604460	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:90604460C>T	ENST00000369352.1	+	1	273	c.273C>T	c.(271-273)gtC>gtT	p.V91V		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	91					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTTCTTTGGTCTATATGGGCC	0.438000													8	33					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39504114	39504114	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:39504114G>A	ENST00000518318.2	+	10	1839	c.1797G>A	c.(1795-1797)caG>caA	p.Q599Q	POU6F2_ENST00000403058.1_Silent_p.Q635Q|POU6F2_ENST00000559001.1_Silent_p.Q580Q			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	635					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CTTCTGGGCAGGAAATGACCG	0.493000													5	21					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61458119	61458119	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:61458119G>A	ENST00000343916.3	+	15	742	c.738_splice	c.e15-1	p.G247_splice		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	247	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TCCTCTGCAGGGTCCCATTGG	0.677000													8	36					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68312408	68312408	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:68312408C>T	ENST00000393799.2	+	4	597	c.330C>T	c.(328-330)ctC>ctT	p.L110L	PPP6R3_ENST00000393800.2_Silent_p.L110L|PPP6R3_ENST00000524904.1_Silent_p.L110L|PPP6R3_ENST00000524845.1_Silent_p.L110L|PPP6R3_ENST00000534534.1_Silent_p.L19L|PPP6R3_ENST00000527403.2_Silent_p.L110L|PPP6R3_ENST00000529710.1_Silent_p.L110L|PPP6R3_ENST00000393801.3_Silent_p.L110L|PPP6R3_ENST00000265637.4_Silent_p.L110L|PPP6R3_ENST00000265636.5_Silent_p.L110L			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	110					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						ATAGCTTCCTCCTAAACGATT	0.383000													6	57					0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188361702	188361702	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:188361702G>A	ENST00000233156.3	-	3	519	c.225C>T	c.(223-225)ttC>ttT	p.F75F	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Silent_p.F75F|TFPI_ENST00000339091.4_Silent_p.F75F|TFPI_ENST00000409676.1_Silent_p.F75F	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	75	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ACTGTCGAGTGAAAATATTGA	0.388000													4	43					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56081814	56081814	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:56081814G>A	ENST00000257880.7	-	25	3475	c.3256C>T	c.(3256-3258)Ctc>Ttc	p.L1086F	ITGA7_ENST00000555728.1_Missense_Mutation_p.L1086F|ITGA7_ENST00000452168.2_Missense_Mutation_p.L949F|ITGA7_ENST00000394229.2_Missense_Mutation_p.L1042F|ITGA7_ENST00000394230.2_Missense_Mutation_p.L1046F|ITGA7_ENST00000553804.1_Missense_Mutation_p.L1046F|ITGA7_ENST00000347027.6_Missense_Mutation_p.L1036F|ITGA7_ENST00000257879.6_Missense_Mutation_p.L1042F			Q13683	ITA7_HUMAN	integrin, alpha 7	1086					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACAGCCAGGAGGATGACCCAC	0.612000													14	119					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103237429	103237429	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:103237429T>A	ENST00000553106.1	-	11	1666	c.1194A>T	c.(1192-1194)aaA>aaT	p.K398N	PAH_ENST00000307000.2_Missense_Mutation_p.K393N	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	398					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTCACCTTACTTTCTCCTTGG	0.542000													5	36					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40392048	40392048	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:40392048G>A	ENST00000406785.1	-	5	2196	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.I697I|SLC8A1_ENST00000406391.2_Silent_p.I669I|SLC8A1_ENST00000405901.3_Silent_p.I700I|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.I669I|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.I705I|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.I669I|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.I705I|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.I700I|SLC8A1_ENST00000542024.1_Silent_p.I669I|SLC8A1-AS1_ENST00000444629.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	705					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTCTCCCAGGATGGGGCGCC	0.512000													12	98					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312729	48312729	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:48312729G>A	ENST00000435803.1	+	17	3490	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1156					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AATGTGGACTGAAATCTGGGA	0.363000													6	46					0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127460919	127460919	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:127460919G>A	ENST00000368808.3	-	4	846	c.847C>T	c.(847-849)Cat>Tat	p.H283Y		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	283					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCAATTTCATGGACGGCCACC	0.567000													5	50					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16295247	16295247	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:16295247G>A	ENST00000259727.4	+	9	982	c.868G>A	c.(868-870)Ggt>Agt	p.G290S	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	290					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AGCCTCTGAGGGTAAGACTGT	0.498000													16	33					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8161479	8161479	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:8161479C>T	ENST00000419822.2	-	2	421	c.386G>A	c.(385-387)tGa>tAa	p.*129*	RIC3_ENST00000335425.7_Intron|RIC3_ENST00000343202.4_Intron|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000539720.1_Intron|RIC3_ENST00000309737.6_Intron			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	0						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ATTAGATTTTCATTGATGTAA	0.279000													4	20					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64422810	64422810	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:64422810C>T	ENST00000262043.3	+	16	5666	c.5326C>T	c.(5326-5328)Cct>Tct	p.P1776S	PHF3_ENST00000393387.1_Missense_Mutation_p.P1776S			Q92576	PHF3_HUMAN	PHD finger protein 3	1776					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATCAGAATTTCCTTCTAAAAG	0.423000													13	116					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429259	48429259	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:48429259G>A	ENST00000224605.2	-	2	892	c.627C>T	c.(625-627)atC>atT	p.I209I		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	209					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CCGCCTTGACGATGGGGGAGA	0.736000													11	40					0	0	1	0	0
C10orf107	219621	broad.mit.edu	37	10	63450376	63450376	+	Silent	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:63450376T>G	ENST00000330194.2	+	4	590	c.285T>G	c.(283-285)acT>acG	p.T95T		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	95										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					TGATAGGAACTGAGGTAAGTA	0.348000													4	43					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059696	9059696	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9059696G>A	ENST00000397910.4	-	3	27953	c.27750C>T	c.(27748-27750)gcC>gcT	p.A9250A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9252	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						TTGAAGATGTGGCCTTTGTTG	0.453000													8	73					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116593759	116593759	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:116593759G>A	ENST00000410059.1	+	22	2457	c.1977G>A	c.(1975-1977)atG>atA	p.M659I	DPP10_ENST00000310323.8_Missense_Mutation_p.M652I|DPP10_ENST00000409163.1_Missense_Mutation_p.M609I|DPP10_ENST00000393147.2_Missense_Mutation_p.M663I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	659					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTGCATCAATGATCTTAAAAT	0.353000													5	21					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721432	160721432	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:160721432C>T	ENST00000274547.2	-	11	1412	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	GABRB2_ENST00000517547.1_Missense_Mutation_p.D201N|GABRB2_ENST00000393959.1_Missense_Mutation_p.D399N|GABRB2_ENST00000520240.1_Missense_Mutation_p.D361N|GABRB2_ENST00000353437.6_Missense_Mutation_p.D361N|GABRB2_ENST00000517901.1_Missense_Mutation_p.D298N	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	399					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)	TCATGGGGGTCCATCTGCAAG	0.448000													4	58					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124692605	124692605	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:124692605G>A	ENST00000311127.4	-	16	4033	c.3966C>T	c.(3964-3966)aaC>aaT	p.N1322N		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1322						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TCTGGAGGAGGTTTTTGGTAC	0.478000													4	47					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336563	126336563	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:126336563G>A	ENST00000394329.3	+	5	6458	c.6445G>A	c.(6445-6447)Gat>Aat	p.D2149N	FAT4_ENST00000335110.5_Missense_Mutation_p.D447N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2149	Cadherin 20.				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						TGACATCAATGATAACAACCC	0.378000													12	50					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777278	123777278	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123777278C>T	ENST00000321355.2	+	1	170	c.140C>T	c.(139-141)tCa>tTa	p.S47L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		AGCATGATCTCAATTATTAGG	0.408000													11	98					0	0	1	0	0
GLUL	2752	broad.mit.edu	37	1	182357711	182357711	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:182357711C>T	ENST00000311223.5	-	3	1058	c.162G>A	c.(160-162)gtG>gtA	p.V54V	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Silent_p.V54V|GLUL_ENST00000339526.4_Silent_p.V54V|GLUL_ENST00000331872.6_Silent_p.V54V	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	54					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	TCTCACCTTCCACACACTTGG	0.567000													9	56					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270127	36270127	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:36270127C>T	ENST00000394571.2	+	6	1265	c.1265C>T	c.(1264-1266)tCa>tTa	p.S422L	PNPLA1_ENST00000388715.3_Missense_Mutation_p.S327L|PNPLA1_ENST00000312917.5_Missense_Mutation_p.S336L	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	422	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCACCCACTTCACCCAGGCCA	0.602000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	107					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81751997	81751997	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:81751997C>T	ENST00000550584.2	-	15	1933		c.e15-1		PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000333447.7_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Splice_Site	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2											NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TAGATGAGTTCTGGAAAAAAG	0.373000													3	8					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38925311	38925311	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:38925311C>T	ENST00000335552.4	-	6	1055	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	336	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				GCAGTAATTTCCTTCAGTCTC	0.413000													6	31					0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	614007	614007	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:614007G>A	ENST00000251287.2	+	7	2034	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	661					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CGACCGCCTGGACCGCATCGG	0.701000													7	33					0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10312264	10312264	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:10312264A>G	ENST00000287652.4	+	4	2449	c.1398A>G	c.(1396-1398)caA>caG	p.Q466Q	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.Q466Q	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	466						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GAACATTCCAAGAGGAGATGC	0.532000													6	35					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428871	10428871	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10428871C>T	ENST00000245503.5	-	32	4818	c.4434G>A	c.(4432-4434)aaG>aaA	p.K1478K	MYH2_ENST00000397183.2_Silent_p.K1478K|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1478					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						AACGGGCCTCCTTCTGGGAGG	0.468000													6	47					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155212013	155212013	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:155212013C>T	ENST00000460012.1	-	17	2366	c.2009G>A	c.(2008-2010)gGa>gAa	p.G670E	PLCH1_ENST00000414191.1_Missense_Mutation_p.G670E|PLCH1_ENST00000334686.6_Missense_Mutation_p.G670E|PLCH1_ENST00000494598.1_Missense_Mutation_p.G688E|PLCH1_ENST00000340059.7_Missense_Mutation_p.G688E|PLCH1_ENST00000447496.2_Missense_Mutation_p.G688E			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	688	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CATCATTCGTCCTTCAGATTG	0.428000													8	56					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234750118	234750118	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:234750118G>A	ENST00000411486.2	-	8	1373	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	HJURP_ENST00000432087.1_Silent_p.I382I|HJURP_ENST00000441687.1_Silent_p.I351I	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	436					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GATCAAATCGGATTTCAATCT	0.488000													14	91					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	92979436	92979436	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:92979436G>A	ENST00000370331.1	-	18	2219	c.2210C>T	c.(2209-2211)tCa>tTa	p.S737L	EVI5_ENST00000543509.1_Missense_Mutation_p.S748L|EVI5_ENST00000540033.1_Missense_Mutation_p.S737L	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	737	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GGAATGGAATGATTCATCATC	0.428000													5	47					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370434	56370434	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56370434G>A	ENST00000301295.6	+	3	2097	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	NLRP4_ENST00000346986.5_Missense_Mutation_p.E559K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E484K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	559							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTGTCTCTTTGAAATGCAGGA	0.473000													18	58					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641013	57641013	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:57641013C>T	ENST00000254181.4	+	4	1424	c.970C>T	c.(970-972)Ccc>Tcc	p.P324S	USP29_ENST00000598197.1_Missense_Mutation_p.P324S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	324					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAATATATTCCCTTTGAGGC	0.383000													12	52					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41410701	41410701	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:41410701T>A	ENST00000551295.2	+	19	2519	c.2402T>A	c.(2401-2403)aTt>aAt	p.I801N	CNTN1_ENST00000347616.1_Missense_Mutation_p.I801N|CNTN1_ENST00000348761.2_Missense_Mutation_p.I790N|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	801	Fibronectin type-III 2.				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)				GTAGCAGTCATTAATTCAGCA	0.428000													4	54					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95658439	95658439	+	Missense_Mutation	SNP	G	G	A	rs34810012		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:95658439G>A	ENST00000433389.2	+	4	609	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	ESRP1_ENST00000358397.5_Missense_Mutation_p.R140Q|ESRP1_ENST00000423620.2_Missense_Mutation_p.R140Q|ESRP1_ENST00000454170.2_Missense_Mutation_p.R140Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	140					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TTTGATCTTCGAAAAGAATTC	0.358000													6	66					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018150	103018150	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:103018150C>T	ENST00000306312.3	-	18	2143	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K	SLC26A5_ENST00000354356.4_Missense_Mutation_p.E61K|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.E591K|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.E596K|SLC26A5_ENST00000339444.6_Missense_Mutation_p.E628K|SLC26A5_ENST00000393730.1_Missense_Mutation_p.E596K|SLC26A5_ENST00000393723.1_Missense_Mutation_p.E598K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.E630K	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	628	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CTTTGCATTTCCTCAGGAAAT	0.423000													4	66					0	0	1	0	0
FABP2	2169	broad.mit.edu	37	4	120240735	120240735	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:120240735C>T	ENST00000274024.3	-	3	591	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	102							fatty acid binding	p.E102K(1)		breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						GTATTCAGTTCGTTTCCATTG	0.308000													6	39					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53580519	53580519	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:53580519G>A	ENST00000371494.4	-	3	469	c.342C>T	c.(340-342)atC>atT	p.I114I	RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Silent_p.I114I	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	114						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)	TGCCTGGGTGGATGATGGAGA	0.602000													11	28					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73740949	73740949	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73740949C>T	ENST00000276033.5	+	2	943	c.777C>T	c.(775-777)ctC>ctT	p.L259L	SLC16A2_ENST00000587091.1_Silent_p.L185L			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	185						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TCATTGGCCTCCATACCAGCT	0.498000													11	30					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120369647	120369647	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:120369647G>A	ENST00000283871.5	-	6	867	c.408C>T	c.(406-408)ttC>ttT	p.F136F		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	136					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TATTGCAGAGGAAAATGTGGA	0.483000													20	145					0	0	1	0	0
POTED	317754	broad.mit.edu	37	21	14983063	14983063	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:14983063G>A	ENST00000299443.5	+	1	566	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	172			E -> Q.			plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GAGGGACAAGGAAAAGAGGTA	0.577000													7	78					0	0	1	0	0
ZFP41	286128	broad.mit.edu	37	8	144332487	144332487	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:144332487C>T	ENST00000330701.4	+	2	843	c.474C>T	c.(472-474)ctC>ctT	p.L158L	ZFP41_ENST00000522452.1_Silent_p.L158L|ZFP41_ENST00000520584.1_Silent_p.L158L	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	158					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCTCCAATCTCCTGAAACATC	0.562000													13	121					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113786564	113786564	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:113786564G>A	ENST00000259213.4	-	4	320	c.213C>T	c.(211-213)ctC>ctT	p.L71L	IL36B_ENST00000327407.2_Silent_p.L71L	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	71					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						AGAAGAGACAGAGATCTTTTC	0.413000													7	75					0	0	1	0	0
CCND1	595	broad.mit.edu	37	11	69456258	69456258	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:69456258C>T	ENST00000227507.2	+	1	404	c.177C>T	c.(175-177)atC>atT	p.I59I	CCND1_ENST00000536559.1_Silent_p.I59I	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	59	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-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)		Arsenic trioxide(DB01169)	TGCGGAAGATCGTCGCCACCT	0.622000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			9	70					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63901459	63901459	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:63901459C>T	ENST00000443617.2	-	78	14494	c.14407G>A	c.(14407-14409)Gac>Aac	p.D4803N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4803	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGCAGACTGTCGTAAGGCTGT	0.607000													5	19					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26509198	26509198	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:26509198C>T	ENST00000244513.6	+	7	1443	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	459	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						TCCGGCCCTTCTTTTGCCTAT	0.478000													10	72					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74936846	74936846	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:74936846C>T	ENST00000569840.2	+	15	2338	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F	MGAT5B_ENST00000301618.4_Silent_p.F586F|MGAT5B_ENST00000428789.2_Silent_p.F597F	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	588						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGAGAACTTCATCGGCAAGC	0.552000													12	60					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65372892	65372892	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:65372892G>A	ENST00000330909.8	-	15	2425	c.2426C>T	c.(2425-2427)cCt>cTt	p.P809L	MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Missense_Mutation_p.P809L	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	809					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)		CGCAGGTGAAGGTGACATAGC	0.378000													9	43					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21247841	21247841	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21247841C>T	ENST00000233242.1	-	16	2527	c.2400G>A	c.(2398-2400)ctG>ctA	p.L800L	APOB_ENST00000399256.4_Silent_p.L800L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	800				LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGGCACCCATCAGAAGCAGCT	0.582000													5	73					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96022469	96022469	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:96022469G>A	ENST00000260766.3	+	14	4667	c.4033G>A	c.(4033-4035)Gaa>Aaa	p.E1345K	PLCE1_ENST00000371375.1_Missense_Mutation_p.E1037K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E1037K|PLCE1_ENST00000371380.2_Missense_Mutation_p.E1345K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1345					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CACTTATGATGAAATCCTCAG	0.438000													17	80					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563715	140563715	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140563715C>T	ENST00000361016.2	+	1	2736	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		527	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGGGAGTTCGAGTTCCGCG	0.687000													15	119					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394514	86394514	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:86394514G>A	ENST00000361669.2	+	2	1152	c.53G>A	c.(52-54)gGa>gAa	p.G18E	GRM3_ENST00000439827.1_Missense_Mutation_p.G18E|GRM3_ENST00000394720.2_Missense_Mutation_p.G16E|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	18					synaptic transmission	integral to plasma membrane		p.G18E(1)		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)	TTTTCAAAGGGATTTTTACTC	0.398000													16	89					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799774	159799774	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:159799774C>T	ENST00000289707.5	+	2	308	c.159C>T	c.(157-159)ctC>ctT	p.L53L	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	53						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GGCGATCTCTCTGGCCTTCAG	0.617000													20	224					0	0	1	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036565	13036565	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:13036565G>A	ENST00000376187.1	+	2	637	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	213										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						CCAAGTGTTGGAAATTTGGAA	0.423000													26	143					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754490	140754490	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140754490C>T	ENST00000517434.1	+	1	840	c.840C>T	c.(838-840)tcC>tcT	p.S280S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACTTATTCCTTTGTGAAGA	0.433000													6	28					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34517351	34517351	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:34517351G>A	ENST00000242317.4	+	19	2058	c.1887G>A	c.(1885-1887)aaG>aaA	p.K629K		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	629					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CGGCCAAAAAGAACAGGCTCA	0.542000									Kartagener syndrome				3	23					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34401369	34401369	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34401369G>A	ENST00000373381.4	-	4	880	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	195	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCTCTGCAGGAAGGCAGGGG	0.627000													12	24					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7246729	7246729	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:7246729G>A	ENST00000158762.3	+	6	582	c.376G>A	c.(376-378)Gat>Aat	p.D126N	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	126	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GGCTCGCCGGGATTTCTGGCG	0.632000													12	84					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954536	70954536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:70954536C>T	ENST00000393567.2	-	46	7893	c.7743G>A	c.(7741-7743)tgG>tgA	p.W2581*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2581										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)				GGGCCTGCTTCCAGCTCAAGC	0.587000													4	31					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119149244	119149244	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:119149244T>A	ENST00000264033.4	+	9	1628	c.1252T>A	c.(1252-1254)Ttc>Atc	p.F418I		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	418	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.G397_I429del(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GGGCTGTCCTTTCTGCCGATG	0.433000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				6	114					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634791	179634791	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179634791C>T	ENST00000589042.1	-	36	8861	c.8637G>A	c.(8635-8637)gtG>gtA	p.V2879V	TTN_ENST00000460472.2_Silent_p.V2833V|TTN_ENST00000359218.5_Silent_p.V2833V|TTN_ENST00000591111.1_Silent_p.V2879V|TTN_ENST00000360870.5_Silent_p.V2879V|TTN_ENST00000342175.6_Silent_p.V2833V|TTN_ENST00000342992.6_Silent_p.V2879V|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2617							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)			ACTTACTCTCCACAAACAGTT	0.438000													15	114					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948600	82948600	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:82948600C>T	ENST00000274341.4	-	3	994	c.144G>A	c.(142-144)aaG>aaA	p.K48K	HAPLN1_ENST00000514416.1_Silent_p.K48K	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	48	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GTGAAAACACCTTGGCTTGCT	0.363000													6	46					0	0	1	0	0
FKBP1B	2281	broad.mit.edu	37	2	24285927	24285927	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:24285927C>T	ENST00000380991.4	+	4	386	c.237C>T	c.(235-237)ccC>ccT	p.P79P	FKBP1B_ENST00000452109.1_Intron|FKBP1B_ENST00000380986.4_Intron			P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa	0	PPIase FKBP-type.				'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state	calcium channel complex|sarcoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding			lung(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCCATCCCTGCTAGATGA	0.537000													4	38					0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40255814	40255814	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:40255814G>A	ENST00000251642.3	-	12	1788	c.1566C>T	c.(1564-1566)atC>atT	p.I522I		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	522					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCAGATCCCGGATCTGGGGTG	0.602000													16	50					0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24864927	24864927	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:24864927C>T	ENST00000424834.2	+	11	3458	c.2985C>T	c.(2983-2985)atC>atT	p.I995I	SPATA13_ENST00000382095.4_Silent_p.I370I|SPATA13_ENST00000399949.2_Silent_p.I292I|SPATA13_ENST00000382108.3_Silent_p.I995I|SPATA13_ENST00000343003.6_Silent_p.I314I|SPATA13_ENST00000409126.1_Silent_p.I230I			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	370					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGATTGACATCGCCATCGACG	0.582000													8	49					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831036	61831036	+	Silent	SNP	G	G	C	rs150889156	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:61831036G>C	ENST00000280772.1	-	37	9794	c.9603C>G	c.(9601-9603)ccC>ccG	p.P3201P	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)	3201					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						CAGAAACCTCGGGAATTGGGC	0.488000													10	63					0	0	1	0	0
TMED8	283578	broad.mit.edu	37	14	77808177	77808177	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:77808177G>A	ENST00000216468.7	-	6	970	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	305	GOLD.				transport	integral to membrane		p.F305F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGGAGTTGTCGAACTTGAGCA	0.587000													13	66					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20805297	20805297	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:20805297G>A	ENST00000298925.5	+	4	493	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	NELL1_ENST00000532434.1_Missense_Mutation_p.E86K|NELL1_ENST00000357134.5_Missense_Mutation_p.E86K|NELL1_ENST00000325319.5_Missense_Mutation_p.E86K			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	86	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.E86*(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAACAAGAGTGAATTCACCAT	0.443000													11	53					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115258669	115258669	+	Splice_Site	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:115258669A>G	ENST00000369535.4	-	2	365		c.e2+1			NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog						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			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)		ACTGGGCCTCACCTCTATGGT	0.463000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			12	49					0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902703	4902703	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:4902703C>T	ENST00000381781.2	-	1	176	c.177G>A	c.(175-177)gtG>gtA	p.V59V		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	59					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		AACCCCTTCCCACGAGCTCCA	0.507000													14	149					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102493494	102493494	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:102493494G>T	ENST00000413150.2	+	23	2636	c.2581G>T	c.(2581-2583)Ggc>Tgc	p.G861C	MAP4K4_ENST00000350198.4_Missense_Mutation_p.G865C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.G1027C|MAP4K4_ENST00000347699.4_Missense_Mutation_p.G946C|MAP4K4_ENST00000425019.1_Missense_Mutation_p.G979C|MAP4K4_ENST00000302217.5_Missense_Mutation_p.G749C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.G986C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.G745C	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	946	Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TACAGAGAGTGGCCTGATGCT	0.468000													7	34					0.000673444	0.000676422	1	1	0
OR10J3	441911	broad.mit.edu	37	1	159283797	159283797	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:159283797G>A	ENST00000332217.5	-	1	652	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	218					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)					GAGGACATAGGAGATAAAGAC	0.502000													4	87					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510406	56510406	+	Silent	SNP	G	G	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56510406G>C	ENST00000302957.3	-	1	881	c.882C>G	c.(880-882)acC>acG	p.T294T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTTGATCACGGTGTAGAACA	0.438000													5	72					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48692794	48692794	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:48692794G>A	ENST00000544264.1	-	5	5055	c.4775C>T	c.(4774-4776)cCa>cTa	p.P1592L	CELSR3_ENST00000164024.4_Missense_Mutation_p.P1592L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1592	Laminin G-like 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAAGCCCCCTGGAACTGTGGG	0.577000													6	41					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110439090	110439090	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:110439090C>T	ENST00000519681.1	+	16	1636	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	PAK3_ENST00000372010.1_Silent_p.F392F|PAK3_ENST00000417227.1_Silent_p.F398F|PAK3_ENST00000262836.4_Silent_p.F392F|PAK3_ENST00000360648.4_Silent_p.F413F|PAK3_ENST00000372007.4_Silent_p.F377F|PAK3_ENST00000518291.1_Silent_p.F413F|PAK3_ENST00000446737.1_Silent_p.F377F|PAK3_ENST00000425146.1_Silent_p.F377F			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	392	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CTTTGGATTTCCTGCACTCAA	0.323000										TSP Lung(19;0.15)			24	78					0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289639	98289639	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:98289639G>A	ENST00000322128.3	-	1	537	c.434C>T	c.(433-435)gCc>gTc	p.A145V		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	145					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CTTCTTCCCGGCAGGGCCACG	0.662000													4	69					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123985890	123985890	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:123985890G>A	ENST00000369005.1	+	13	7958	c.7618G>A	c.(7618-7620)Gat>Aat	p.D2540N	TACC2_ENST00000513429.1_Missense_Mutation_p.D686N|TACC2_ENST00000358010.1_Missense_Mutation_p.D686N|TACC2_ENST00000369000.1_Missense_Mutation_p.D240N|TACC2_ENST00000360561.3_Missense_Mutation_p.D618N|TACC2_ENST00000368999.1_Missense_Mutation_p.D630N|TACC2_ENST00000453444.2_Missense_Mutation_p.D2544N|TACC2_ENST00000334433.3_Missense_Mutation_p.D2540N|TACC2_ENST00000260733.3_Missense_Mutation_p.D618N|TACC2_ENST00000369004.3_Missense_Mutation_p.D630N|TACC2_ENST00000515273.1_Missense_Mutation_p.D2544N|TACC2_ENST00000515603.1_Missense_Mutation_p.D2495N|TACC2_ENST00000369001.1_Missense_Mutation_p.D244N	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2540						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)				GCAGGACGACGATGCCCCGAA	0.532000													7	13					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416469	48416469	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:48416469G>A	ENST00000249598.1	-	1	384	c.225C>T	c.(223-225)gtC>gtT	p.V75V		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	75					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.V75V(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCTGCGAAGGGACCCCACTCA	0.562000													5	60					0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45877286	45877286	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:45877286C>T	ENST00000291592.4	+	2	1076	c.759C>T	c.(757-759)atC>atT	p.I253I		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	253						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		AGGACCCCATCGGCCCGGGGC	0.642000													5	63					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864514	13864514	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:13864514C>T	ENST00000265104.4	-	28	4692	c.4588G>A	c.(4588-4590)Gaa>Aaa	p.E1530K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1530	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)					ACCTCTATTTCCTCTTTATAT	0.383000									Kartagener syndrome				15	46					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72205040	72205040	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:72205040A>G	ENST00000555818.1	+	21	5617	c.5269A>G	c.(5269-5271)Aag>Gag	p.K1757E	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.K1735E|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.K1736E|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.K1210E	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1757					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGATTTGAAGAAGGTAAACAT	0.433000													3	43					0	0	1	0	0
GRTP1	79774	broad.mit.edu	37	13	114009649	114009649	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:114009649G>A	ENST00000375430.4	-	3	375	c.329C>T	c.(328-330)gCc>gTc	p.A110V	GRTP1_ENST00000326039.3_Missense_Mutation_p.A32V|GRTP1-AS1_ENST00000419199.1_RNA|GRTP1_ENST00000375431.4_Missense_Mutation_p.A110V|GRTP1-AS1_ENST00000423246.1_RNA			Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	110	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TGTCCTGATGGCGTCCTCCAG	0.662000													18	72					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74880368	74880368	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:74880368G>A	ENST00000289575.5	+	5	994	c.599G>A	c.(598-600)gGc>gAc	p.G200D	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G56D|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G84D|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G178D	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	200					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	ACCCTGCTGGGCGTGGGCGGG	0.607000													4	63					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15508582	15508582	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:15508582C>T	ENST00000341776.2	+	12	2987	c.2743C>T	c.(2743-2745)Ccc>Tcc	p.P915S	JARID2_ENST00000397311.3_Missense_Mutation_p.P743S|JARID2_ENST00000541660.1_Missense_Mutation_p.P877S|JARID2_ENST00000474854.1_3'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	915	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGTGACTATTCCCTGGCTAAA	0.408000													3	50					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5939209	5939209	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:5939209A>T	ENST00000378896.3	+	7	1003	c.626A>T	c.(625-627)aAt>aTt	p.N209I	MCM8_ENST00000265187.4_Missense_Mutation_p.N209I|MCM8_ENST00000378886.2_Missense_Mutation_p.N209I|MCM8_ENST00000378883.1_Missense_Mutation_p.N209I	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	209					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CAGCTCAAGAATGTCAGAGCA	0.358000													6	48					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68156101	68156101	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:68156101C>T	ENST00000349223.5	+	2	539	c.315C>T	c.(313-315)ccC>ccT	p.P105P	NFATC3_ENST00000575270.1_Silent_p.P105P|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.P105P|NFATC3_ENST00000329524.4_Silent_p.P105P	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	105					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GTCCCAAACCCTTTGAGTGCC	0.403000													4	73					0	0	1	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119222391	119222391	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:119222391C>T	ENST00000494664.1	+	3	575	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	125						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ATCTGCACATCGTGCTGCCAC	0.413000													7	10					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20177352	20177352	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:20177352G>A	ENST00000245957.5	+	16	1805	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	577										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTTTCTGAAGGAGATCCTGCG	0.473000													5	56					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683851	71683851	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:71683851G>A	ENST00000393524.2	-	17	3446	c.2713C>T	c.(2713-2715)Ccg>Tcg	p.P905S	PHLPP2_ENST00000567016.1_Missense_Mutation_p.P1007S|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000568954.1_Missense_Mutation_p.P972S|PHLPP2_ENST00000356272.3_Missense_Mutation_p.P972S|PHLPP2_ENST00000360429.3_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	972	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ATGGTCAGCGGAGTGGAAGAT	0.498000													8	65					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76374858	76374858	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:76374858G>A	ENST00000357063.3	+	8	1917	c.657G>A	c.(655-657)agG>agA	p.R219R	LMO7_ENST00000377534.3_Silent_p.R219R|LMO7_ENST00000526202.1_Silent_p.R128R|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000321797.8_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Silent_p.R219R			Q8WWI1	LMO7_HUMAN	LIM domain 7	219						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)		GAAGTGGCAGGGACAGTGGCT	0.403000													10	98					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169492555	169492555	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:169492555G>A	ENST00000367796.3	-	21	6144	c.5943C>T	c.(5941-5943)atC>atT	p.I1981I	F5_ENST00000367797.3_Silent_p.I1976I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1976	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTTGGGTCTGGATCCCTGTGA	0.448000													13	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577629	179577629	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179577629G>A	ENST00000589042.1	-	94	27347	c.27123C>T	c.(27121-27123)atC>atT	p.I9041I	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.I8724I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.I7797I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8724	Ig-like 73.						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)			TTCCTTTTACGATACTTGTGA	0.413000													4	21					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135279382	135279382	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:135279382C>T	ENST00000285968.6	+	13	1944	c.1918C>T	c.(1918-1920)Cct>Tct	p.P640S	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	640					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CAGTATTCCCCCTGTCCTAAA	0.488000													7	77					0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100152213	100152213	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:100152213G>A	ENST00000370575.4	-	10	1086	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	346							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TCAGGAAGGTGATCTGCGGTG	0.542000													12	49					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836232	12836232	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:12836232C>T	ENST00000357726.4	+	2	861	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	278										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	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;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTCTCTTTCCTCGAAGGCC	0.502000													33	126					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175649825	175649825	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:175649825G>A	ENST00000274093.3	-	4	794	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	GLRA3_ENST00000340217.5_Missense_Mutation_p.R98C|GLRA3_ENST00000436738.1_5'UTR	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	98					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.R98C(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CATTTCTGACGAAGAAAGATA	0.383000													7	26					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540336	55540336	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:55540336C>T	ENST00000220676.1	+	4	4042	c.3894C>T	c.(3892-3894)ttC>ttT	p.F1298F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1298					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)			AGGCTTGTTTCCTAGGAGAGG	0.413000													16	130					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													5	71					0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51983821	51983821	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51983821G>A	ENST00000396477.4	+	2	308	c.287G>A	c.(286-288)aGa>aAa	p.R96K	CEACAM18_ENST00000451626.1_Missense_Mutation_p.R157K	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	157						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGAGTGAACAGAGAAGGCAGC	0.562000													5	59					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41323742	41323742	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:41323742C>T	ENST00000551295.2	+	7	758	c.641C>T	c.(640-642)tCc>tTc	p.S214F	CNTN1_ENST00000547702.1_Missense_Mutation_p.S214F|CNTN1_ENST00000347616.1_Missense_Mutation_p.S214F|CNTN1_ENST00000348761.2_Missense_Mutation_p.S203F|CNTN1_ENST00000547849.1_Missense_Mutation_p.S214F|CNTN1_ENST00000360099.3_Missense_Mutation_p.S214F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	214	Ig-like C2-type 2.				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)				TGCTTTGTTTCCAGTCCTTCT	0.393000													13	133					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15742453	15742453	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:15742453C>T	ENST00000281171.4	+	25	3805	c.3475C>T	c.(3475-3477)Cat>Tat	p.H1159Y	PTPRO_ENST00000348962.2_Missense_Mutation_p.H1131Y|PTPRO_ENST00000544244.1_Missense_Mutation_p.H320Y|PTPRO_ENST00000442921.2_Missense_Mutation_p.H348Y|PTPRO_ENST00000542557.1_Missense_Mutation_p.H320Y|PTPRO_ENST00000445537.2_Missense_Mutation_p.H348Y	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1159	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CATTCGGGATCATGAGTTTGT	0.443000													6	88					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140223159	140223159	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:140223159C>T	ENST00000275884.6	-	16	3030	c.2613G>A	c.(2611-2613)caG>caA	p.Q871Q	DENND2A_ENST00000537639.1_Silent_p.Q871Q|DENND2A_ENST00000496613.1_Silent_p.Q871Q			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	871										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GCTCGTTCCTCTGTTCCAGAA	0.597000													5	91					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155203356	155203356	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:155203356C>T	ENST00000460012.1	-	22	3030	c.2673G>A	c.(2671-2673)agG>agA	p.R891R	PLCH1_ENST00000414191.1_Silent_p.R891R|PLCH1_ENST00000334686.6_Silent_p.R891R|PLCH1_ENST00000494598.1_Silent_p.R909R|PLCH1_ENST00000340059.7_Silent_p.R929R|PLCH1_ENST00000447496.2_Silent_p.R929R			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	929					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCTCTTTTTCCTGCCTTTGG	0.498000													19	69					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35046335	35046335	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:35046335G>A	ENST00000360359.3	+	14	2323	c.2184_splice	c.e14-1	p.G729_splice	ANKS1A_ENST00000535627.1_Intron|ANKS1A_ENST00000470698.1_3'UTR	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	729	SAM 1.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGCTCTCAGGGGTCTAATGT	0.637000													16	121					0	0	1	0	0
LOC101928517	101928517	broad.mit.edu	37	19	51671009	51671009	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51671009C>T	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							CTCGGTGATCCCTCAAGGAAC	0.522000													4	25					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10436605	10436605	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10436605C>T	ENST00000245503.5	-	21	2822	c.2438G>A	c.(2437-2439)aGa>aAa	p.R813K	MYH2_ENST00000397183.2_Missense_Mutation_p.R813K|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	813	IQ.				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						TTTATACCTTCTCTCCACCAT	0.433000													10	65					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188430	152188430	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152188430C>T	ENST00000368801.2	-	3	5750	c.5675G>A	c.(5674-5676)gGt>gAt	p.G1892D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1892					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGGAGTGACCTGAGCCAGA	0.537000													42	601					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120876795	120876795	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:120876795G>A	ENST00000310396.5	+	17	2550	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K	CPED1_ENST00000423795.1_Missense_Mutation_p.E475K|CPED1_ENST00000450913.2_Missense_Mutation_p.E695K	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TCATCCAGAGGAAACCTGTGG	0.333000													13	61					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66937343	66937343	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:66937343G>A	ENST00000374690.3	+	5	2721	c.2197G>A	c.(2197-2199)Gac>Aac	p.D733N	AR_ENST00000396043.2_Missense_Mutation_p.D201N|AR_ENST00000396044.3_Intron	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	732	Interaction with MYST2.|Ligand-binding.		Q -> H (in PAIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ACACGTGGACGACCAGATGGC	0.557000									Androgen Insensitivity Syndrome				6	29					0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148712107	148712107	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:148712107G>A	ENST00000286091.4	-	4	735	c.503C>T	c.(502-504)tCc>tTc	p.S168F		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	168	Thioredoxin 1.|Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GTCGGGCTGGGAGACTTCTCT	0.493000													5	45					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21260045	21260045	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21260045C>A	ENST00000233242.1	-	6	747	c.620G>T	c.(619-621)aGa>aTa	p.R207I	APOB_ENST00000399256.4_Missense_Mutation_p.R207I	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	207	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCCCAGGTCTCTTTCAGTGGA	0.517000													3	23					0.004672	0.0046897	1	1	0
EFCAB6	64800	broad.mit.edu	37	22	44004410	44004410	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:44004410C>T	ENST00000262726.7	-	22	2886	c.2633G>A	c.(2632-2634)gGt>gAt	p.G878D	EFCAB6_ENST00000396231.2_Missense_Mutation_p.G726D	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	878	EF-hand 9.				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)				AATATCAAAACCGTACAGTGC	0.448000													4	41					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72827914	72827914	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:72827914C>T	ENST00000268489.5	-	9	9339	c.8667G>A	c.(8665-8667)cgG>cgA	p.R2889R	ZFHX3_ENST00000397992.5_Silent_p.R1975R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2889					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAGATGACAACCGATCTTCAT	0.493000													14	40					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132516578	132516578	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:132516578C>T	ENST00000333577.4	+	31	6052	c.5943C>T	c.(5941-5943)aaC>aaT	p.N1981N	EP400_ENST00000389561.2_Silent_p.N1945N|EP400_ENST00000389562.2_Silent_p.N1944N|EP400_ENST00000332482.4_Silent_p.N1908N|EP400_ENST00000330386.6_Silent_p.N1864N			Q96L91	EP400_HUMAN	E1A binding protein p400	1981	Helicase C-terminal.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		CAGGTATAAACCTTGTAGAGG	0.473000													21	120					0	0	1	0	0
DEFB115	245929	broad.mit.edu	37	20	29847306	29847306	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:29847306G>A	ENST00000400552.1	+	2	138	c.138G>A	c.(136-138)agG>agA	p.R46R		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	46					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGATGCAGGAAATCATGCA	0.328000													8	31					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53009963	53009963	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53009963C>T	ENST00000305748.3	-	2	683	c.649G>A	c.(649-651)Gac>Aac	p.D217N		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	217	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTTGTAGTCCTCCACCACT	0.627000													14	84					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57333108	57333108	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:57333108C>T	ENST00000326441.9	-	7	943	c.580G>A	c.(580-582)Gat>Aat	p.D194N	ZIM2_ENST00000391708.3_Missense_Mutation_p.D69N|ZIM2_ENST00000221722.5_Missense_Mutation_p.D69N|PEG3_ENST00000598410.1_Missense_Mutation_p.D69N|PEG3_ENST00000593695.1_Missense_Mutation_p.D68N|ZIM2_ENST00000593711.1_Missense_Mutation_p.D69N|PEG3_ENST00000423103.2_Missense_Mutation_p.D194N|ZIM2_ENST00000599935.1_Missense_Mutation_p.D69N|ZIM2_ENST00000601070.1_Missense_Mutation_p.D69N	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	194					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)		AGGGAAAGATCCCGCGGAGGC	0.547000													14	140					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30627832	30627832	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:30627832G>A	ENST00000376442.3	-	10	1927	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	DHX16_ENST00000376437.5_Missense_Mutation_p.P97S|DHX16_ENST00000480966.1_5'UTR	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	578					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						ATGTCCACAGGAAACCTGCGT	0.552000													8	164					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411015	5411015	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5411015G>A	ENST00000328611.3	+	1	409	c.387G>A	c.(385-387)atG>atA	p.M129I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	129						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTCCTCATGATGTCCTTTG	0.488000													42	234					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121838367	121838367	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121838367G>A	ENST00000330540.2	+	7	1092	c.976G>A	c.(976-978)Gat>Aat	p.D326N	CD86_ENST00000493101.1_Missense_Mutation_p.D214N|CD86_ENST00000393627.2_Missense_Mutation_p.D320N|CD86_ENST00000264468.5_Missense_Mutation_p.D113N|CD86_ENST00000469710.1_Missense_Mutation_p.D244N	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	326					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	p.D326N(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CGACAAAAGTGATACATGTTT	0.343000													11	36					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731165	92731165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:92731165G>A	ENST00000379958.2	-	3	4515	c.4246C>T	c.(4246-4248)Cga>Tga	p.R1416*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1416						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGACTTCTCGAAGCTGATCT	0.373000													9	145					0	0	1	0	0
RAPSN	5913	broad.mit.edu	37	11	47470502	47470502	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:47470502C>T	ENST00000298854.2	-	1	228	c.15G>A	c.(13-15)caG>caA	p.Q5Q	RAPSN_ENST00000352508.3_Silent_p.Q5Q|RAPSN_ENST00000529341.1_Silent_p.Q5Q|RAPSN_ENST00000524487.1_Silent_p.Q5Q	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	5					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						GCTGCTTGGTCTGGTCCTGCC	0.612000													15	109					0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16091592	16091592	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16091592G>A	ENST00000375766.3	+	3	754	c.114G>A	c.(112-114)cgG>cgA	p.R38R	FBLIM1_ENST00000441801.2_Silent_p.R38R|FBLIM1_ENST00000375771.1_Silent_p.R38R|FBLIM1_ENST00000400773.1_Silent_p.R38R|FBLIM1_ENST00000332305.5_Silent_p.R38R	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	38	Filamin-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GTGAGGCCCGGCGTGGCCGCC	0.692000													21	63					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34513170	34513170	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:34513170A>T	ENST00000242317.4	+	16	1721	c.1550A>T	c.(1549-1551)gAg>gTg	p.E517V		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	517					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GTGGGCACAGAGGAGGGAAAA	0.527000									Kartagener syndrome				8	85					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535378	169535378	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:169535378C>T	ENST00000449804.2	+	2	660	c.615C>T	c.(613-615)gtC>gtT	p.V205V	FOXI1_ENST00000306268.6_Silent_p.V300V	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	300					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCCCTTGGTCACACCAGGAC	0.627000									Pendred syndrome				7	51					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370109	126370109	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:126370109C>T	ENST00000394329.3	+	9	7951	c.7938C>T	c.(7936-7938)ttC>ttT	p.F2646F	FAT4_ENST00000335110.5_Silent_p.F944F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2646	Cadherin 25.				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						acggtggtttccctcctttct	0.368000													4	39					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67748493	67748493	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:67748493G>A	ENST00000433211.1	-	16	2396	c.2222C>T	c.(2221-2223)tCa>tTa	p.S741L	CTNNA3_ENST00000373735.1_Missense_Mutation_p.S80L|CTNNA3_ENST00000373744.4_Missense_Mutation_p.S741L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	741					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCTTGATCCTGATTCTGATAT	0.388000													6	71					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733682	152733682	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152733682G>A	ENST00000368773.1	+	2	1676	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	KPRP_ENST00000606109.1_Missense_Mutation_p.E540K	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	540						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGGGGCAAGAGAGTGGTGC	0.577000													11	57					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100211879	100211879	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:100211879C>T	ENST00000524871.1	+	23	3262	c.2972C>T	c.(2971-2973)tCt>tTt	p.S991F	CNTN5_ENST00000418526.2_Missense_Mutation_p.S917F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S991F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S991F|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	991	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTCAGGTTTCTCTGGGCTGG	0.448000													31	79					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404270	197404270	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:197404270C>T	ENST00000367397.1	+	5	2278	c.1420C>T	c.(1420-1422)Ctg>Ttg	p.L474L	CRB1_ENST00000535699.1_Silent_p.L1069L|CRB1_ENST00000367400.3_Silent_p.L1093L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Silent_p.L574L|CRB1_ENST00000367399.2_Silent_p.L981L			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1093	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TATAAAGGGCCTGCAAGGGTG	0.373000													6	49					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255101	9255101	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:9255101C>T	ENST00000383440.2	+	8	2024	c.1767C>T	c.(1765-1767)ttC>ttT	p.F589F	ANKRD12_ENST00000400020.3_Silent_p.F589F|ANKRD12_ENST00000262126.3_Silent_p.F612F	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	612						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGAAAGATTTCCACTTAGAAT	0.308000													11	34					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140183020	140183020	+	Silent	SNP	G	G	A	rs150112751	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140183020G>A	ENST00000522353.2	+	1	2238	c.2238G>A	c.(2236-2238)ggG>ggA	p.G746G	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.G746G	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGTGGGGAGCTGGTCAT	0.637000													8	96					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34076690	34076690	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34076690G>A	ENST00000373381.4	-	41	6470	c.6294C>T	c.(6292-6294)ttC>ttT	p.F2098F	CSMD2_ENST00000373380.1_Silent_p.F971F|CSMD2_ENST00000373388.2_Silent_p.F197F|CSMD2_ENST00000373377.1_Silent_p.F197F	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2058						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTCGCTGTGGAAATACACGG	0.557000													3	34					0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67356917	67356917	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:67356917C>T	ENST00000396623.3	+	5	318	c.287C>T	c.(286-288)tCc>tTc	p.S96F	ADHFE1_ENST00000379385.4_Missense_Mutation_p.S96F|ADHFE1_ENST00000415254.1_Missense_Mutation_p.S48F|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	96					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCTATGGATTCCCTAGTGAAG	0.403000													17	181					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105765477	105765477	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:105765477C>T	ENST00000374798.3	+	3	182	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	CYLC2_ENST00000487798.1_Missense_Mutation_p.P38S	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	38	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CCTGTTATTTCCCAAACCACA	0.368000													6	55					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134322528	134322528	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:134322528C>T	ENST00000508956.1	-	10	1873	c.1816G>A	c.(1816-1818)Gga>Aga	p.G606R	KY_ENST00000423778.2_Missense_Mutation_p.G627R|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	0						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CTGCAGCTTCCCTCCCAGTAG	0.517000													28	98					0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119941127	119941127	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:119941127C>T	ENST00000297350.4	-	3	820	c.442G>A	c.(442-444)Ggg>Agg	p.G148R		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	148					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GAGAAGAACCCATCTGGACAT	0.428000													10	59					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47186848	47186848	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:47186848G>A	ENST00000447411.1	-	2	213	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	SLC38A4_ENST00000266579.4_Missense_Mutation_p.P3S	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	3					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AGTTCCATGGGATCCATTTGA	0.443000													8	89					0	0	1	0	0
CALB2	794	broad.mit.edu	37	16	71417914	71417914	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:71417914C>T	ENST00000302628.4	+	7	596	c.519C>T	c.(517-519)ctC>ctT	p.L173L	CALB2_ENST00000349553.5_Silent_p.L173L	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	173	EF-hand 4.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AATTGGGCCTCTCAGAGATGT	0.527000													10	96					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115348067	115348067	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:115348067C>T	ENST00000351270.3	+	13	1718	c.1622C>T	c.(1621-1623)aCc>aTc	p.T541I	HABP2_ENST00000542051.1_Missense_Mutation_p.T515I	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	541	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GGGGTCTACACCCAAGTTACC	0.542000													6	71					0	0	1	0	0
SGPP1	81537	broad.mit.edu	37	14	64165346	64165346	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:64165346G>A	ENST00000247225.6	-	2	809	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	239						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		CACCAGCAGGGAATAAGAATC	0.289000													7	36					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84525026	84525026	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:84525026G>A	ENST00000360700.4	+	9	2006	c.1120G>A	c.(1120-1122)Gca>Aca	p.A374T	ZNF711_ENST00000542798.1_Missense_Mutation_p.A170T|ZNF711_ENST00000276123.3_Missense_Mutation_p.A328T|ZNF711_ENST00000373165.3_Missense_Mutation_p.A328T|ZNF711_ENST00000395402.1_Missense_Mutation_p.A336T			Q9Y462	ZN711_HUMAN	zinc finger protein 711	328					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TTTGGACTCAGCATTAGAAAG	0.318000													4	41					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40979842	40979842	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:40979842A>G	ENST00000313164.9	+	17	2540	c.2181A>G	c.(2179-2181)gtA>gtG	p.V727V	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	727	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CCTTGGATGTATGTGCTCAAG	0.393000													5	42					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680313	95680313	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:95680313G>A	ENST00000433389.2	+	10	1258	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ESRP1_ENST00000358397.5_Silent_p.K356K|ESRP1_ENST00000423620.2_Silent_p.K356K|ESRP1_ENST00000454170.2_Silent_p.K356K	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	356	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CTGGGGGAAAGGAAGGCATCC	0.527000													11	73					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944962	144944962	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:144944962G>A	ENST00000525985.1	-	2	2531	c.2460C>T	c.(2458-2460)tcC>tcT	p.S820S				P58107	EPIPL_HUMAN	epiplakin 1	820						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)			CATACTTCACGGAGAGCAGCA	0.647000													3	26					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814458	123814458	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123814458C>T	ENST00000321252.2	-	1	122	c.88G>A	c.(88-90)Ggg>Agg	p.G30R		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACCATTAACCCCAGGAACACC	0.483000													19	99					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	79971566	79971566	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:79971566G>A	ENST00000466387.1	+	7	880	c.156G>A	c.(154-156)ggG>ggA	p.G52G	CTNNA2_ENST00000402739.4_Silent_p.G52G|CTNNA2_ENST00000540488.1_Silent_p.G52G|CTNNA2_ENST00000361291.4_Silent_p.G86G|CTNNA2_ENST00000496558.1_Silent_p.G52G|CTNNA2_ENST00000541047.1_Silent_p.G52G			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	52					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						AAAAGAAAGGGAGGTCAAAGA	0.413000													7	39					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712524	121712524	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121712524G>A	ENST00000273691.3	-	6	1045	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	ILDR1_ENST00000344209.5_Missense_Mutation_p.P358S|ILDR1_ENST00000393631.1_Missense_Mutation_p.P269S|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.P326S	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	358						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GGCCTGGAGGGAATTGGGGTG	0.602000													5	52					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031971	26031971	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:26031971C>T	ENST00000244661.2	-	1	317	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GGTTTGTGTCCTCAAAGAGCC	0.532000													19	69					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956392	128956392	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:128956392G>A	ENST00000274487.4	+	9	1687	c.1542G>A	c.(1540-1542)caG>caA	p.Q514Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	514	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTAAAGGACAGAATCTTGGTG	0.393000													13	102					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37534656	37534656	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:37534656C>T	ENST00000299824.1	+	7	930	c.741C>T	c.(739-741)ctC>ctT	p.L247L	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	247					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGCTGAGCTCCTCCTGGACC	0.597000													7	68					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69772846	69772846	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:69772846C>T	ENST00000370598.1	+	16	3175	c.2354C>T	c.(2353-2355)tCc>tTc	p.S785F		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	785					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTCATTAATTCCAAAATCATC	0.358000													7	36					0	0	1	0	0
MAP7D1	55700	broad.mit.edu	37	1	36636769	36636769	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:36636769C>T	ENST00000316156.4	+	2	697	c.244C>T	c.(244-246)Ccg>Tcg	p.P82S	MAP7D1_ENST00000373150.4_Missense_Mutation_p.P82S|MAP7D1_ENST00000373151.2_Missense_Mutation_p.P82S			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	82	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCAGCCCCCCCGCAGGAAGA	0.657000													36	99					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114823345	114823345	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:114823345G>A	ENST00000310346.4	-	7	1357	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S	TBX5_ENST00000405440.2_Missense_Mutation_p.P231S|TBX5_ENST00000526441.1_Missense_Mutation_p.P231S|TBX5_ENST00000349716.5_Missense_Mutation_p.P181S	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	231					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTGGCAAAGGGATTATTCTCA	0.453000													4	36					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183635329	183635329	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:183635329G>A	ENST00000511685.1	+	13	2434	c.2311G>A	c.(2311-2313)Gca>Aca	p.A771T	TENM3_ENST00000406950.2_Missense_Mutation_p.A771T|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		ATGGAGAGGAGCAGGCTGTGA	0.517000													5	34					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179415913	179415913	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179415913C>T	ENST00000589042.1	-	336	91569	c.91345G>A	c.(91345-91347)Gat>Aat	p.D30449N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D21384N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D21509N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D28808N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D21576N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D27881N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28808	Ig-like 137.						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)			CTGCCTCCATCACGCAATGGT	0.453000													7	31					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50701519	50701519	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:50701519G>A	ENST00000361387.2	-	9	1575	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.S286S	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	353					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						CGGCCGCGCTGGAGCAGGAGT	0.672000													14	85					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711611	155711611	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:155711611G>A	ENST00000295101.2	+	3	1769	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	431					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TACAGCTTGGGAGACTTGCCC	0.408000													14	85					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833289	168833289	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:168833289G>A	ENST00000464456.1	-	7	3007	c.1807C>T	c.(1807-1809)Cct>Tct	p.P603S	MECOM_ENST00000494292.1_Missense_Mutation_p.P791S|MECOM_ENST00000460814.1_Missense_Mutation_p.P603S|MECOM_ENST00000392736.3_Missense_Mutation_p.P603S|MECOM_ENST00000264674.3_Missense_Mutation_p.P668S|MECOM_ENST00000472280.1_Missense_Mutation_p.P604S|MECOM_ENST00000468789.1_Missense_Mutation_p.P603S|MECOM_ENST00000433243.2_Missense_Mutation_p.P604S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	12							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTTTTCGAGGCTCAGTCAGC	0.527000													7	49					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278137	36278137	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:36278137C>T	ENST00000007510.4	+	21	2814	c.2670C>T	c.(2668-2670)ccC>ccT	p.P890P	ARHGAP33_ENST00000314737.5_Silent_p.P729P|ARHGAP33_ENST00000378944.5_Silent_p.P754P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	890	Poly-Pro.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GTGCCCCACCCCCGCCCCCTA	0.662000													11	42					0	0	1	0	0
YWHAE	7531	broad.mit.edu	37	17	1264431	1264431	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:1264431G>A	ENST00000264335.8	-	4	800	c.533C>T	c.(532-534)tCc>tTc	p.S178F	YWHAE_ENST00000571732.1_Missense_Mutation_p.S156F|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000573026.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide	178					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GTAGAATACGGAAAAATTGAG	0.483000			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						14	82					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1264085	1264085	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:1264085G>A	ENST00000447027.1	+	31	6042	c.5984G>A	c.(5983-5985)tGg>tAg	p.W1995*	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Nonsense_Mutation_p.W1992*			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1992	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCACCACCTGGACCCGCCTA	0.637000													14	275					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88583119	88583119	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:88583119G>A	ENST00000418177.2	-	3	1233	c.866C>T	c.(865-867)gCc>gTc	p.A289V	GRM5_ENST00000455756.2_Missense_Mutation_p.A289V|GRM5_ENST00000305447.4_Missense_Mutation_p.A289V|GRM5_ENST00000305432.5_Missense_Mutation_p.A289V|GRM5_ENST00000393297.1_Missense_Mutation_p.A289V			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	289					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCGCCTCATGGCCATCAGCAG	0.517000													8	51					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74524979	74524979	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:74524979G>A	ENST00000422840.2	-	8	1368	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	GLG1_ENST00000447066.2_Nonsense_Mutation_p.R446*|GLG1_ENST00000205061.5_Nonsense_Mutation_p.R457*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	457						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CGCCCTTTTCGATGTAATCCG	0.507000													9	83					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440872	124440872	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:124440872C>T	ENST00000284287.3	+	1	980	c.908C>T	c.(907-909)cCc>cTc	p.P303L		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		ATGTTGAATCCCCTAATCTAC	0.443000													9	40					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518068	113518068	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:113518068C>T	ENST00000284601.3	-	4	3147	c.3079G>A	c.(3079-3081)Gaa>Aaa	p.E1027K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1027					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTTCATTTTCATGCCTTGCT	0.398000													10	161					0	0	1	0	0
KAAG1	353219	broad.mit.edu	37	6	24358098	24358098	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:24358098G>A	ENST00000274766.1	+	1	968	c.231G>A	c.(229-231)acG>acA	p.T77T	DCDC2_ENST00000378454.3_5'UTR	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	77					immune response					central_nervous_system(1)|lung(1)|prostate(1)	3						AGAAACTGACGAATCCACAGG	0.617000													3	34					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066818	18066818	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:18066818C>T	ENST00000506618.2	-	1	668	c.588G>A	c.(586-588)cgG>cgA	p.R196R		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	196					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TGGCCTTCTTCCGTTCTTTAT	0.448000													12	79					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39550277	39550277	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39550277G>A	ENST00000251645.2	-	7	1294	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	414	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCTAGCGCACGAAGGAATTGC	0.612000													11	43					0	0	1	0	0
C1orf111	284680	broad.mit.edu	37	1	162345159	162345159	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:162345159G>A	ENST00000367935.4	-	2	217	c.138C>T	c.(136-138)tcC>tcT	p.S46S	C1orf111_ENST00000493255.1_Intron|RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	46										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GAGCTGGGCTGGATGCCTCAG	0.542000													15	81					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88703313	88703313	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:88703313C>T	ENST00000372027.4	-	6	1301	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	410						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TTGATCTCATCCACGTGCCGG	0.602000													9	70					0	0	1	0	0
ALG5	29880	broad.mit.edu	37	13	37569619	37569619	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:37569619C>G	ENST00000239891.3	-	2	247	c.181G>C	c.(181-183)Gac>Cac	p.D61H	ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000413537.2_Missense_Mutation_p.D61H|ALG5_ENST00000443765.1_Missense_Mutation_p.D61H	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	61					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GTAGGTGAGTCCCATATGCTG	0.388000													12	59					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73070128	73070128	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73070128G>A	ENST00000429829.1	-	0	2460					NR_001564.2																						AAAGGTTAAGGAATTTGTAAT	0.264000													3	8					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849040	73849040	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:73849040G>A	ENST00000523207.1	+	3	2038	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	484					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)			CTCCGCCGACGATAATCACCT	0.512000													8	99					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42711403	42711403	+	Missense_Mutation	SNP	G	G	A	rs45590635		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:42711403G>A	ENST00000230882.4	+	7	903	c.713G>A	c.(712-714)gGa>gAa	p.G238E	GHR_ENST00000537449.1_Missense_Mutation_p.G51E|GHR_ENST00000357703.3_Missense_Mutation_p.G216E	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	238	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CGAAACTCTGGAAATTATGGC	0.373000													11	135					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190569915	190569915	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:190569915G>A	ENST00000520309.1	+	8	1963	c.1875G>A	c.(1873-1875)aaG>aaA	p.K625K	ANKAR_ENST00000431575.2_Silent_p.K554K|ANKAR_ENST00000281412.6_Silent_p.K389K|ANKAR_ENST00000438402.2_Silent_p.K625K|ANKAR_ENST00000313581.4_Silent_p.K625K	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	625						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TCTGTAGGAAGGATCCTAGTT	0.398000													12	90					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826148	43826148	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:43826148C>T	ENST00000389420.3	-	21	3054	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E1019K|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.E173K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1019	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CAGGAAAATTCATTGCAATTC	0.403000													8	39					0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35658311	35658311	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:35658311C>T	ENST00000357214.5	-	1	438	c.340G>A	c.(340-342)Gga>Aga	p.G114R		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	114	Gln/Glu/Pro-rich.				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGGCCGGGTCCCTGAGCAACG	0.761000			T	TFE3	papillary renal cell								4	7					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117239222	117239222	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:117239222C>T	ENST00000332958.2	+	10	1011	c.995C>T	c.(994-996)cCt>cTt	p.P332L	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	332					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTACTCATTCCTGCAACAATG	0.289000													7	63					0	0	1	0	0
FKBP14	55033	broad.mit.edu	37	7	30058624	30058624	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:30058624G>A	ENST00000222803.5	-	3	640	c.465C>T	c.(463-465)ctC>ctT	p.L155L	AC007285.6_ENST00000422239.1_RNA|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	155	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						CATCTTTAGAGAGTTTCCAGT	0.348000													6	36					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063570	9063570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9063570C>T	ENST00000397910.4	-	3	24079	c.23876G>A	c.(23875-23877)tGg>tAg	p.W7959*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7961	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						AGGGCTCATCCATGATACATC	0.458000													11	34					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121743988	121743988	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:121743988G>A	ENST00000452319.1	+	13	2151	c.2091G>A	c.(2089-2091)ctG>ctA	p.L697L	GLI2_ENST00000361492.4_Silent_p.L697L|GLI2_ENST00000314490.11_Silent_p.L369L|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	697					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGACGGCACTGGATGACACAC	0.692000													5	36					0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52485318	52485318	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:52485318G>A	ENST00000232975.3	-	6	513	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	153	EF-hand 4.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	TGAACTCCAGGAACTCTGTGG	0.607000													6	40					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532136	42532136	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:42532136G>A	ENST00000282030.5	+	4	3127	c.2831G>A	c.(2830-2832)aGc>aAc	p.S944N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	944						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAACGGAAAAGCCTGCAAAAC	0.512000									Schinzel-Giedion syndrome				9	47					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120979942	120979942	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:120979942C>T	ENST00000392793.1	+	4	492	c.221C>T	c.(220-222)tCc>tTc	p.S74F	TECTA_ENST00000264037.2_Missense_Mutation_p.S74F			O75443	TECTA_HUMAN	tectorin alpha	74					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGAGTTGTTTCCTTCAATGTG	0.458000													3	31					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157997882	157997882	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:157997882C>T	ENST00000389413.3	-	4	464	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	PTPRN2_ENST00000409483.1_Missense_Mutation_p.E83K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.E121K|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E144K|PTPRN2_ENST00000389416.4_Missense_Mutation_p.E104K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	121						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTGGATGCTTCAGGACGCCTC	0.488000													21	34					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167802322	167802322	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:167802322G>A	ENST00000367848.1	-	25	3717	c.3220C>T	c.(3220-3222)Cct>Tct	p.P1074S	ADCY10_ENST00000367851.4_Missense_Mutation_p.P1166S|ADCY10_ENST00000545172.1_Missense_Mutation_p.P1013S|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1166					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGTTGTAAGGAAAGATTCGG	0.478000													22	249					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809573	5809573	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5809573A>G	ENST00000317078.1	-	1	473	c.474T>C	c.(472-474)gtT>gtC	p.V158V	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		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)		TGGAAGGGATAACAAGCATCA	0.502000													5	40					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054151	67054151	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:67054151C>T	ENST00000295568.4	+	3	813	c.682C>T	c.(682-684)Cca>Tca	p.P228S	KBTBD8_ENST00000417314.2_Missense_Mutation_p.P254S|KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000469661.1_3'UTR	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	254	BACK.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AGAGAAAATTCCACCTCAGTT	0.413000													10	72					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189875434	189875434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:189875434C>T	ENST00000304636.3	+	50	4242	c.4072C>T	c.(4072-4074)Cga>Tga	p.R1358*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R1055*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1358	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCATTCCTTCGACTTCTCTC	0.428000													7	97					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153655925	153655925	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:153655925G>A	ENST00000368680.3	+	6	1809	c.1337G>A	c.(1336-1338)gGg>gAg	p.G446E		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	446					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	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)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGGCCCCTGGGGTACCCTCCT	0.577000													4	59					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159568147	159568147	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:159568147C>T	ENST00000307765.5	+	16	1801	c.1550C>T	c.(1549-1551)cCt>cTt	p.P517L	RXFP1_ENST00000343542.5_Missense_Mutation_p.P469L|RXFP1_ENST00000470033.1_Missense_Mutation_p.P484L|RXFP1_ENST00000460056.2_Missense_Mutation_p.P436L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P412L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	517						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATTGTCTATCCTTTTAGATGT	0.363000													6	45					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676019	7676019	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:7676019C>T	ENST00000446248.2	+	11	1270	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.S363F	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	363					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						CTTCTGTCATCTGGTGGCCCC	0.662000													10	73					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840191	150840191	+	Silent	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:150840191T>A	ENST00000370357.4	+	13	1622	c.1377T>A	c.(1375-1377)tcT>tcA	p.S459S		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	459						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)					GTGGTTTATCTTTATCCAACT	0.488000													23	52					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50540483	50540483	+	Missense_Mutation	SNP	G	G	A	rs143418383		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:50540483G>A	ENST00000267845.3	-	10	1501	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	HDC_ENST00000543581.1_Intron	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	367					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CCGAAGGACCGAATCACGAAC	0.522000													7	27					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167034821	167034821	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:167034821G>A	ENST00000392766.2	-	14	1506	c.1166C>T	c.(1165-1167)cCa>cTa	p.P389L	ZBBX_ENST00000392767.2_Missense_Mutation_p.P389L|ZBBX_ENST00000307529.5_Missense_Mutation_p.P389L|ZBBX_ENST00000455345.2_Missense_Mutation_p.P389L|ZBBX_ENST00000392764.1_Missense_Mutation_p.P360L|ZBBX_ENST00000469220.1_5'UTR	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	389						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTTTAGAGATGGTTCAGGTCT	0.348000													6	56					0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994303	45994303	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:45994303C>T	ENST00000400374.3	+	1	698	c.668C>T	c.(667-669)tCc>tTc	p.S223F	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	223	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						ACCTCCTCCTCCTGCCAGCAG	0.637000													9	135					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92844733	92844733	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:92844733G>A	ENST00000394468.2	-	3	773	c.696C>T	c.(694-696)atC>atT	p.I232I	HEPACAM2_ENST00000440868.1_Silent_p.I220I|HEPACAM2_ENST00000341723.4_Silent_p.I220I|HEPACAM2_ENST00000453812.2_Silent_p.I255I	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	232	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGGGCATAATGATATCACTTT	0.363000													23	43					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95721275	95721275	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:95721275C>T	ENST00000480546.1	-	0	22					NR_002319.2																						GCCCCCTCCCCCTCAAGGGCC	0.597000													14	101					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63430183	63430183	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:63430183G>A	ENST00000536984.2	+	2	799	c.105G>A	c.(103-105)aaG>aaA	p.K35K	CDH7_ENST00000397968.2_Silent_p.K35K|CDH7_ENST00000323011.3_Silent_p.K35K			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	35					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CCAGATCAAAGCCCTATTTCC	0.493000													6	34					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73102410	73102410	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:73102410C>T	ENST00000264839.7	+	27	4063	c.4063C>T	c.(4063-4065)Cct>Tct	p.P1355S	RIMS1_ENST00000518273.1_Missense_Mutation_p.P1185S|RIMS1_ENST00000521978.1_Missense_Mutation_p.P1506S|RIMS1_ENST00000414192.2_Missense_Mutation_p.P33S|RIMS1_ENST00000425662.2_Missense_Mutation_p.P574S|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000517960.1_Missense_Mutation_p.P1289S|RIMS1_ENST00000517827.1_Missense_Mutation_p.P640S|RIMS1_ENST00000348717.5_Missense_Mutation_p.P1289S|RIMS1_ENST00000522291.1_Missense_Mutation_p.P1105S|RIMS1_ENST00000491071.2_Missense_Mutation_p.P1329S|RIMS1_ENST00000538414.1_Missense_Mutation_p.P312S|RIMS1_ENST00000401910.3_Missense_Mutation_p.P826S|RIMS1_ENST00000520567.1_Missense_Mutation_p.P1156S|RIMS1_ENST00000523963.1_Missense_Mutation_p.P631S			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1506	Ser-rich.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTTAATATTTCCTGGAGTGCG	0.418000													8	62					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94858841	94858841	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:94858841G>A	ENST00000357742.4	+	3	612	c.612G>A	c.(610-612)cgG>cgA	p.R204R	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Silent_p.R204R|MCTP2_ENST00000543482.1_Silent_p.R204R	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	204	C2 1.				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)			AGGAAGGCCGGAACCTGGTTG	0.527000													6	28					0	0	1	0	0
FAM162B	221303	broad.mit.edu	37	6	117073798	117073798	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:117073798C>T	ENST00000368557.4	-	4	597	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	151						integral to membrane				large_intestine(2)|lung(4)	6						GCAGCTTCTTCACGCCACTTA	0.398000													32	118					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6029562	6029562	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:6029562G>A	ENST00000265849.7	-	10	1118	c.1013C>T	c.(1012-1014)cCa>cTa	p.P338L	PMS2_ENST00000441476.2_Missense_Mutation_p.P232L|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.P338L|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	338					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)		CCTTTTATCTGGAGTAACATT	0.269000			"""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				3	28					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183529291	183529291	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:183529291C>T	ENST00000413720.1	-	13	1547	c.1273G>A	c.(1273-1275)Gct>Act	p.A425T	NCF2_ENST00000367536.1_Missense_Mutation_p.A470T|NCF2_ENST00000367535.3_Missense_Mutation_p.A470T|NCF2_ENST00000418089.1_Missense_Mutation_p.A389T	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	470	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						GGTTGGGTAGCCTCATAACTG	0.433000													27	106					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196398791	196398791	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:196398791G>A	ENST00000367433.5	-	9	836	c.735C>T	c.(733-735)ttC>ttT	p.F245F	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Silent_p.F245F|KCNT2_ENST00000367431.4_Silent_p.F245F|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	245						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGACATCCCCGAAGCCCACAG	0.423000													8	37					0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100103676	100103676	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:100103676G>A	ENST00000372966.3	-	12	1716	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	NOX1_ENST00000372960.4_Missense_Mutation_p.S467F|NOX1_ENST00000217885.5_Missense_Mutation_p.S455F|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	504	Interaction with NOXO1.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TCTCCCAAAGGAGGTTTTCTG	0.428000													27	78					0	0	1	0	0
RAB6C-AS1	100131320	broad.mit.edu	37	2	130725890	130725890	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:130725890C>T	ENST00000412425.1	-	0	728					NR_036537.1																						GACGCTATCCCAAAGGGGAAA	0.428000													7	36					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172166042	172166042	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:172166042G>A	ENST00000241256.2	-	1	204	c.162C>T	c.(160-162)ttC>ttT	p.F54F	GHSR_ENST00000427970.1_Silent_p.F54F	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	54					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGCCCACCACGAAGAGTGCCA	0.677000													6	70					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874886	80874886	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:80874886G>A	ENST00000466387.1	+	22	3331	c.2607G>A	c.(2605-2607)gtG>gtA	p.V869V	CTNNA2_ENST00000402739.4_Silent_p.V917V|CTNNA2_ENST00000540488.1_Silent_p.V824V|CTNNA2_ENST00000361291.4_Silent_p.V903V|CTNNA2_ENST00000496558.1_Silent_p.V869V|CTNNA2_ENST00000541047.1_Silent_p.V869V|CTNNA2_ENST00000343114.3_Silent_p.V548V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	917					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						AGCCCCTTGTGAAGAGAGAAA	0.468000													21	161					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201816	248201816	+	Missense_Mutation	SNP	G	G	A	rs142994715		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248201816G>A	ENST00000366479.2	+	1	343	c.247G>A	c.(247-249)Gat>Aat	p.D83N	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D83N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			GAtggtttatgattttctgta	0.418000													29	151					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133378447	133378447	+	Missense_Mutation	SNP	G	G	A	rs149188843	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:133378447G>A	ENST00000204726.3	-	8	2264	c.1706C>T	c.(1705-1707)tCg>tTg	p.S569L	GOLGA3_ENST00000450791.2_Missense_Mutation_p.S569L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.S569L|GOLGA3_ENST00000545875.1_Missense_Mutation_p.S569L|GOLGA3_ENST00000537452.1_Missense_Mutation_p.S569L	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	569	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTGCAGGGACGAGATCTCCGC	0.657000													29	87					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141732630	141732630	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141732630G>A	ENST00000475668.2	+	14	1644	c.1590G>A	c.(1588-1590)atG>atA	p.M530I	MGAM_ENST00000549489.2_Missense_Mutation_p.M530I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	530	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)	TGTAGGATATGAATGAAGTCT	0.353000													5	11					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175015	140175015	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140175015G>A	ENST00000526136.1	+	1	466	c.466G>A	c.(466-468)Gga>Aga	p.G156R	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.G156R|PCDHA2_ENST00000378132.1_Missense_Mutation_p.G156R	NM_018905.2	NP_061728.1												p.G156*(2)		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)			TCCTCTAGAGGGAGCATCTGA	0.438000													4	82					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113169282	113169282	+	Missense_Mutation	SNP	G	G	A	rs143066739	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:113169282G>A	ENST00000295872.4	-	15	2483	c.2224C>T	c.(2224-2226)Cgt>Tgt	p.R742C		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	742					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AGTTTTCCACGAGCCTCCATA	0.433000													19	72					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95090040	95090040	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:95090040G>A	ENST00000553947.1	+	8	2124	c.1236G>A	c.(1234-1236)gtG>gtA	p.V412V	SERPINA3_ENST00000482740.1_Silent_p.V169V|SERPINA3_ENST00000393080.4_Silent_p.V387V|SERPINA3_ENST00000393078.3_Silent_p.V387V|SERPINA3_ENST00000467132.1_Silent_p.V387V			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	387					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CTGCATTAGTGGAGACAAGGA	0.498000													23	87					0	0	1	0	0
SMPD1	6609	broad.mit.edu	37	11	6415810	6415810	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6415810C>T	ENST00000342245.4	+	6	2037	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	SMPD1_ENST00000299397.3_Silent_p.S579S|SMPD1_ENST00000527275.1_Silent_p.S622S|SMPD1_ENST00000356761.2_Silent_p.S567S	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	621					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	AGGCCCAGAGCCTGTGGCCAA	0.597000													10	39					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22952122	22952122	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:22952122G>A	ENST00000397104.3	-	2	70	c.71C>T	c.(70-72)tCg>tTg	p.S24L	ZNF99_ENST00000596209.1_Missense_Mutation_p.S3L					zinc finger protein 99									p.S24W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAATGTCAACGATCCCTGAAA	0.388000													19	60					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48173412	48173412	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:48173412C>G	ENST00000381501.3	-	4	455	c.298G>C	c.(298-300)Gac>Cac	p.D100H		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	100	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ACCCACAGGTCCCTGCTTTGT	0.323000													7	43					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71886027	71886027	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:71886027C>T	ENST00000258104.3	+	43	4935	c.4658C>T	c.(4657-4659)cCc>cTc	p.P1553L	DYSF_ENST00000409744.1_Missense_Mutation_p.P1561L|DYSF_ENST00000409582.3_Missense_Mutation_p.P1591L|DYSF_ENST00000409651.1_Missense_Mutation_p.P1585L|DYSF_ENST00000413539.2_Missense_Mutation_p.P1584L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.P1571L|DYSF_ENST00000410020.3_Missense_Mutation_p.P1592L|DYSF_ENST00000429174.2_Missense_Mutation_p.P1574L|DYSF_ENST00000394120.2_Missense_Mutation_p.P1554L|DYSF_ENST00000409762.1_Missense_Mutation_p.P1570L|DYSF_ENST00000409366.1_Missense_Mutation_p.P1575L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1553						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AAAATTTATCCCCTCCCAGAA	0.502000													9	87					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47611818	47611818	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:47611818G>A	ENST00000371891.3	+	11	1388	c.1357G>A	c.(1357-1359)Gga>Aga	p.G453R	CYP4A22_ENST00000371890.3_Missense_Mutation_p.G355R|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.G453R|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	453						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTCTCAGGAGGATCAAGGTG	0.517000													68	346					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47467581	47467581	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:47467581G>A	ENST00000265565.5	-	7	1228	c.816C>T	c.(814-816)gtC>gtT	p.V272V	SCAP_ENST00000441517.2_Silent_p.V17V|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	272					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGTGCACGTGGACCAGGCTCT	0.607000													6	32					0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100118781	100118781	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:100118781C>T	ENST00000330710.5	+	2	574	c.476C>T	c.(475-477)cCt>cTt	p.P159L	HHIPL1_ENST00000357223.2_Missense_Mutation_p.P159L	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	159					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TACTGCTTCCCTTACCTGCTG	0.612000													8	64					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132859926	132859926	+	RNA	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:132859926G>T	ENST00000434551.1	+	0	498					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		ACAGCTTTTCGATCTTTTACA	0.448000													10	68					3.86212e-05	3.88985e-05	1	1	0
PPP5C	5536	broad.mit.edu	37	19	46879771	46879771	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:46879771G>T	ENST00000012443.4	+	4	676	c.573G>T	c.(571-573)atG>atT	p.M191I	PPP5C_ENST00000391919.1_Missense_Mutation_p.M85I	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	191	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TCAGTTTCATGAAGGAGCTCA	0.532000													7	51					1.06961e-07	1.08049e-07	1	1	0
OR10G7	390265	broad.mit.edu	37	11	123908974	123908974	+	Silent	SNP	G	G	A	rs151111393		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123908974G>A	ENST00000330487.5	-	1	743	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAAGGACCACGATACAGTGGG	0.562000													6	50					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969511	140969511	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140969511C>T	ENST00000298296.1	+	4	838	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	280	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GATTCTTATTCTGAGTGTGAT	0.493000													38	113					0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54373525	54373525	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:54373525T>C	ENST00000306888.2	-	3	697	c.446A>G	c.(445-447)gAc>gGc	p.D149G	LNX1-AS1_ENST00000514364.1_RNA|LNX1-AS1_ENST00000511989.1_RNA|LNX1-AS1_ENST00000510785.1_RNA|LNX1_ENST00000263925.7_Missense_Mutation_p.D245G|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	245						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCTGCCCTGGTCGGCATGGTT	0.488000													6	48					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40037160	40037160	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:40037160C>T	ENST00000336649.4	+	8	1029	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	CACNA1I_ENST00000404898.1_Silent_p.I343I|CACNA1I_ENST00000402142.3_Silent_p.I343I|CACNA1I_ENST00000407673.1_Silent_p.I343I|CACNA1I_ENST00000400164.3_Silent_p.I343I|CACNA1I_ENST00000401624.1_Silent_p.I343I			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	343					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TTGACAACATCGGTTATGCTT	0.592000													5	61					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2156476	2156476	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:2156476G>A	ENST00000262304.4	-	18	7620	c.7412C>T	c.(7411-7413)cCg>cTg	p.P2471L	PKD1_ENST00000423118.1_Missense_Mutation_p.P2471L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2471	REJ.		P -> L (in ADPKD1).		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						GCCCCCCAGCGGCGGGCGGTT	0.711000													6	15					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45010264	45010264	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:45010264G>A	ENST00000258787.7	-	9	1280	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	382	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.P382S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCACGCCGAGGATCCCGGCCC	0.597000													9	85					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751184	19751184	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:19751184C>T	ENST00000400113.3	-	4	1043	c.939G>A	c.(937-939)atG>atA	p.M313I		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	313					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGCAGCAGGCCATGTACTTGC	0.572000													11	106					0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88144664	88144664	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:88144664C>T	ENST00000507897.1	+	11	1470	c.1387C>T	c.(1387-1389)Cct>Tct	p.P463S	C6ORF165_ENST00000369562.4_Missense_Mutation_p.P463S			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	463										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGCAGAAAATCCTGAACATTA	0.259000													3	27					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131222181	131222181	+	Missense_Mutation	SNP	C	C	T	rs146731749		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:131222181C>T	ENST00000337057.3	-	7	1250	c.1069G>A	c.(1069-1071)Gac>Aac	p.D357N	EPB41L2_ENST00000527659.1_Missense_Mutation_p.D357N|EPB41L2_ENST00000527411.1_Missense_Mutation_p.D357N|EPB41L2_ENST00000445890.2_Missense_Mutation_p.D357N|EPB41L2_ENST00000525271.1_Missense_Mutation_p.D357N|EPB41L2_ENST00000530481.1_Missense_Mutation_p.D357N|EPB41L2_ENST00000525193.1_Missense_Mutation_p.D357N|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000392427.3_Missense_Mutation_p.D357N|EPB41L2_ENST00000529208.1_Missense_Mutation_p.D357N|EPB41L2_ENST00000368128.2_Missense_Mutation_p.D357N|EPB41L2_ENST00000528282.1_Missense_Mutation_p.D357N	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	357	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCACTGAGGTCGATGCTGCCA	0.542000													13	138					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38154775	38154775	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:38154775C>T	ENST00000379747.4	-	11	1569	c.1452G>A	c.(1450-1452)gcG>gcA	p.A484A	POSTN_ENST00000541179.1_Silent_p.A484A|POSTN_ENST00000379743.4_Silent_p.A484A|POSTN_ENST00000379749.4_Silent_p.A484A|POSTN_ENST00000541481.1_Silent_p.A484A|POSTN_ENST00000379742.4_Silent_p.A484A	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	484	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)		ATATGTGAATCGCACCGTTTC	0.448000													25	131					0	0	1	0	0
CCDC121	79635	broad.mit.edu	37	2	27850155	27850155	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:27850155C>T	ENST00000324364.3	-	2	692	c.512G>A	c.(511-513)aGa>aAa	p.R171K	RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.R333K|ZNF512_ENST00000556601.1_Intron	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	171										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					ATTAAGCTCTCTTCTTTTTCT	0.478000													7	72					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799381	212799381	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:212799381G>A	ENST00000294829.3	+	1	1593	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	388	Ala-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGCAGACATGGATGCAGCAGC	0.612000													9	45					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55652970	55652970	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55652970C>T	ENST00000449290.2	+	2	158	c.66C>T	c.(64-66)ttC>ttT	p.F22F		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	22						intracellular	zinc ion binding										TGAACTACTTCCTAGACCCAG	0.493000													6	57					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169454911	169454911	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:169454911G>A	ENST00000256935.8	+	34	3506	c.3426G>A	c.(3424-3426)ggG>ggA	p.G1142G	DOCK2_ENST00000520908.1_Silent_p.G634G|DOCK2_ENST00000540750.1_Silent_p.G203G|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1142	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGTAGAAGGGGGCCGAGGCG	0.512000													5	48					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600809	29600809	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:29600809G>A	ENST00000431530.3	+	1	2062	c.2004G>A	c.(2002-2004)gtG>gtA	p.V668V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	658	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGGGCCAGGTGGACGCCTCGC	0.582000													8	21					0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570050	22570050	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:22570050C>T	ENST00000510882.2	+	1	256	c.246C>T	c.(244-246)atC>atT	p.I82I	HDGFL1_ENST00000230012.3_Silent_p.I82I			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	82										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					TGTGGGAAATCGAGAACAACC	0.652000													3	16					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31885376	31885376	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:31885376C>T	ENST00000253354.1	+	7	804	c.643C>T	c.(643-645)Ctc>Ttc	p.L215F		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	215						extracellular space	lipid binding										GTATGCAGACCTCCTGCAGCT	0.582000													8	95					0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51064589	51064589	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:51064589G>A	ENST00000547307.1	-	5	1371	c.966C>T	c.(964-966)atC>atT	p.I322I	ARSA_ENST00000356098.5_Silent_p.I324I|ARSA_ENST00000395621.3_Silent_p.I324I|ARSA_ENST00000395619.3_Silent_p.I324I|ARSA_ENST00000453344.2_Silent_p.I238I|ARSA_ENST00000547805.1_Silent_p.I322I|ARSA_ENST00000216124.5_Silent_p.I324I			P15289	ARSA_HUMAN	arylsulfatase A	322						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GACCGGGAGCGATATGACCTG	0.662000													5	9					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17699608	17699608	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:17699608C>T	ENST00000434762.2	+	0	224							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGGTCTTGATCGATGTGGCCA	0.592000													8	34					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30516712	30516712	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:30516712C>T	ENST00000356798.6	+	20	2475	c.2295C>T	c.(2293-2295)atC>atT	p.I765I	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.I681I	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	765					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGTTTCAGATCCCTTTTGAGA	0.542000													22	146					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209779668	209779668	+	Missense_Mutation	SNP	G	G	A	rs147371769		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:209779668G>A	ENST00000009105.1	+	6	684	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	CAMK1G_ENST00000361322.2_Missense_Mutation_p.E147K			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	147	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CCTACAGCCCGAAAACCTGCT	0.438000													25	140					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451751	37451751	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:37451751G>A	ENST00000374660.1	+	17	1908	c.1809G>A	c.(1807-1809)ttG>ttA	p.L603L	ANKRD30A_ENST00000602533.1_Silent_p.L603L|ANKRD30A_ENST00000361713.1_Silent_p.L603L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	659						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCTTGGAATTGAAAAATGAAC	0.328000													46	68					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670755	134670755	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:134670755G>A	ENST00000398015.3	+	3	1036	c.666G>A	c.(664-666)cgG>cgA	p.R222R	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	222	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGATTGCTCGGGGCACATGCA	0.527000													11	184					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746650	95746650	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:95746650C>T	ENST00000311106.3	-	8	1160	c.923G>A	c.(922-924)gGa>gAa	p.G308E	PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.G261E	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	308	Catalytic.				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)	CCCCCCGTTTCCCGAAGCCCA	0.512000													21	159					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1783239	1783239	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:1783239C>T	ENST00000539485.1	-	29	3954	c.3721G>A	c.(3721-3723)Gag>Aag	p.E1241K	ATP8B3_ENST00000310127.6_Missense_Mutation_p.E1231K|ATP8B3_ENST00000525591.1_Missense_Mutation_p.E1194K			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1231					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)		GTGAAAATCTCCTCGCTGGGG	0.587000													3	15					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43817883	43817883	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:43817883G>A	ENST00000382031.1	+	5	4957	c.4926G>A	c.(4924-4926)caG>caA	p.Q1642Q	MAP1A_ENST00000399453.1_Silent_p.Q1404Q|MAP1A_ENST00000300231.5_Silent_p.Q1404Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1404						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGAAACAGCAGGATAAGGCTT	0.458000													6	38					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15501380	15501380	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:15501380C>T	ENST00000341776.2	+	8	2432	c.2188C>T	c.(2188-2190)Ctg>Ttg	p.L730L	JARID2_ENST00000397311.3_Silent_p.L558L|JARID2_ENST00000541660.1_Silent_p.L692L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	730					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GAAGGAGATCCTGGAGAAGCG	0.627000													38	162					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212923	26212923	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:26212923C>T	ENST00000379034.1	+	2	1109	c.960C>T	c.(958-960)atC>atT	p.I320I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	320	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGATGGGATCCTGCATTCAA	0.493000													33	92					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94512510	94512510	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94512510G>A	ENST00000370225.3	-	19	2969	c.2883C>T	c.(2881-2883)ttC>ttT	p.F961F	ABCA4_ENST00000535735.1_Silent_p.F887F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	961	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGTGGCCCAGGAATGCGGTGA	0.537000													50	156					0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12923586	12923586	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:12923586C>T	ENST00000361905.4	+	10	1419	c.754C>T	c.(754-756)Cct>Tct	p.P252S	TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000361985.2_Missense_Mutation_p.P267S|TEAD1_ENST00000527636.1_Missense_Mutation_p.P267S|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000526600.1_Missense_Mutation_p.P171S	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	267	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGACAAATTTCCTGAAAAGAA	0.428000													14	196					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177225235	177225235	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:177225235C>T	ENST00000361539.4	+	3	762	c.450C>T	c.(448-450)gcC>gcT	p.A150A		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		150						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TACTTTCTGCCACCCTTGGAG	0.438000											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	31					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128846078	128846078	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:128846078C>T	ENST00000249373.3	+	5	1288	c.1008C>T	c.(1006-1008)acC>acT	p.T336T		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	336					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGGTCCTCACCTATGCCTGGC	0.562000			Mis		skin basal cell								20	210					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123517667	123517667	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:123517667C>T	ENST00000422452.2	-	30	7177	c.7114G>A	c.(7114-7116)Gat>Aat	p.D2372N	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.D2365N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GTAAGGAAATCATAGAGTCCT	0.408000													14	60					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872557	55872557	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55872557C>T	ENST00000313503.1	+	1	39	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGGCTGACTTCATCCTTATGG	0.443000										HNSCC(53;0.14)			40	158					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59195288	59195288	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:59195288C>T	ENST00000262717.4	+	7	1504	c.1106C>T	c.(1105-1107)cCa>cTa	p.P369L	CDH20_ENST00000538374.1_Missense_Mutation_p.P369L|CDH20_ENST00000536675.2_Missense_Mutation_p.P369L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	369	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AACTTGGGCCCATTTCAGGAC	0.493000													7	81					0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18149822	18149822	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:18149822G>A	ENST00000375406.1	+	2	535	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	107						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		ACCCTTGAGGGAGCCTGCGGA	0.597000													13	54					0	0	1	0	0
IFNG	3458	broad.mit.edu	37	12	68551693	68551693	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:68551693C>T	ENST00000229135.3	-	3	497	c.366_splice	c.e3+1	p.S122_splice	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	122					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	ATAGCCTCACCGAATAATTAG	0.363000													5	76					0	0	1	0	0
CLDN4	1364	broad.mit.edu	37	7	73245545	73245545	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:73245545G>A	ENST00000435050.1	+	2	2694	c.14G>A	c.(13-15)gGg>gAg	p.G5E	CLDN4_ENST00000340958.2_Missense_Mutation_p.G5E|CLDN4_ENST00000431918.1_Missense_Mutation_p.G5E			O14493	CLD4_HUMAN	claudin 4	5					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GCCTCCATGGGGCTACAGGTA	0.672000													5	81					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6224994	6224994	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:6224994G>A	ENST00000264870.3	-	7	1163	c.898C>T	c.(898-900)Cta>Tta	p.L300L		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	300					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TATTCCAATAGAATGTCAACG	0.488000													8	123					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168634	50168634	+	Silent	SNP	G	G	A	rs150358448		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:50168634G>A	ENST00000284509.6	-	25	3009	c.2868C>T	c.(2866-2868)ttC>ttT	p.F956F	ATP8B4_ENST00000559829.1_Silent_p.F956F	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	956					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.F956F(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACACGCAAATGAAAAATTTAC	0.458000													10	58					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4286286	4286286	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:4286286G>A	ENST00000381971.3	-	2	733	c.140C>T	c.(139-141)tCg>tTg	p.S47L		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	637	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGTGGGACTCGATGTGCTGCC	0.607000													9	35					0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56041190	56041190	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56041190G>A	ENST00000413299.1	-	4	994	c.957C>T	c.(955-957)atC>atT	p.I319I	SBK2_ENST00000344158.3_Silent_p.I319I	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	319	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCCTGATGGCGATCACAGCGC	0.756000													9	34					0	0	1	0	0
TEX35	84066	broad.mit.edu	37	1	178489983	178489983	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:178489983C>T	ENST00000367641.3	+	7	576	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	TEX35_ENST00000367643.3_Missense_Mutation_p.P173S|TEX35_ENST00000319416.2_Missense_Mutation_p.P173S|TEX35_ENST00000367639.1_Missense_Mutation_p.P181S|TEX35_ENST00000258298.2_Missense_Mutation_p.P97S|TEX35_ENST00000367642.3_3'UTR					testis expressed 35																		CTCACTGGATCCCCTTCATCA	0.582000													4	32					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87738790	87738790	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:87738790C>T	ENST00000320005.5	-	3	354	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	103					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GGGTCCATTTCCTTCTGCTCT	0.438000													16	215					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65499198	65499198	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:65499198C>T	ENST00000261883.4	-	4	512	c.346G>A	c.(346-348)Ggt>Agt	p.G116S		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	116					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						CACCAGAAACCCTCACGGGGA	0.642000													11	65					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23519780	23519780	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:23519780G>A	ENST00000374619.1	-	1	1442	c.933C>T	c.(931-933)atC>atT	p.I311I	HTR1D_ENST00000314113.3_Silent_p.I311I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	311					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCCAGCAGATGATAAAGGCCC	0.552000													30	93					0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6066262	6066262	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:6066262C>T	ENST00000379959.3	-	3	485	c.312G>A	c.(310-312)agG>agA	p.R104R	IL2RA_ENST00000256876.6_Silent_p.R104R|IL2RA_ENST00000379954.1_Silent_p.R104R	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	104					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTGTGGTTTTCCTTTCTTTCT	0.458000													8	44					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57340760	57340760	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:57340760G>A	ENST00000361249.3	+	3	406	c.310G>A	c.(310-312)Gag>Aag	p.E104K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	104	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CCAGTGTAAGGAGACAGGTGA	0.478000													3	24					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625750	140625750	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140625750C>T	ENST00000231173.3	+	1	604	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		202	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAACTGGATCGCGAGGAGCA	0.552000													3	28					0	0	1	0	0
MAL2	114569	broad.mit.edu	37	8	120252445	120252445	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:120252445G>A	ENST00000276681.6	+	4	446	c.344G>A	c.(343-345)gGa>gAa	p.G115E	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	115	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TTCTATTTTGGAGCCTTTTTA	0.363000													8	47					0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	756666	756666	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:756666G>A	ENST00000584307.1	-	2	332	c.162C>T	c.(160-162)ttC>ttT	p.F54F	YES1_ENST00000314574.4_Silent_p.F54F|YES1_ENST00000577611.1_5'UTR|YES1_ENST00000577961.1_Silent_p.F59F			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	54					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	AAAGACTGCTGAAATTAACTG	0.488000													38	138					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903249	4903249	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4903249C>T	ENST00000380378.1	+	1	201	c.201C>T	c.(199-201)gcC>gcT	p.A67A	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.A40A|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACACCATTGCCCTCTTGGGAA	0.473000													6	91					0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501787	28501787	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:28501787C>T	ENST00000412168.2	+	5	598	c.509C>T	c.(508-510)tCc>tTc	p.S170F	GPX5_ENST00000469384.1_3'UTR|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	170					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	AAATCTATATCCTGGGACCCT	0.493000													14	172					0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40129048	40129048	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:40129048C>T	ENST00000235628.1	-	4	491	c.492G>A	c.(490-492)aaG>aaA	p.K164K		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	164					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGTGATAGGCCTTGAGGTAGC	0.532000													7	61					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40913196	40913196	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:40913196C>T	ENST00000346991.5	+	11	1202	c.812C>T	c.(811-813)tCc>tTc	p.S271F	CASC5_ENST00000399668.2_Missense_Mutation_p.S245F|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	271	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CCTATTTATTCCAAGGAACCG	0.313000													5	30					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415799	86415799	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:86415799G>A	ENST00000361669.2	+	3	1790	c.691G>A	c.(691-693)Gag>Aag	p.E231K	GRM3_ENST00000439827.1_Missense_Mutation_p.E231K|GRM3_ENST00000394720.2_Missense_Mutation_p.E229K|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.E103K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	231					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)	CGAGGCCTTCGAGCAGGAAGC	0.597000													6	58					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577515	179577515	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179577515G>A	ENST00000589042.1	-	94	27461	c.27237C>T	c.(27235-27237)ttC>ttT	p.F9079F	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.F8762F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.F7835F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8762	Ig-like 74.						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)			TATCTACATCGAACAACTCCA	0.423000													15	30					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56127844	56127844	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56127844G>A	ENST00000303039.3	+	1	154	c.122G>A	c.(121-123)gGg>gAg	p.G41E		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ACCATGGCAGGGAACCTGGGC	0.493000													11	99					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2024953	2024953	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:2024953T>C	ENST00000568546.1	+	7	617	c.489T>C	c.(487-489)ccT>ccC	p.P163P		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	163					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						ACCCGGACCCTACACGCCTGC	0.672000													13	75					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113076847	113076847	+	Silent	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:113076847C>A	ENST00000316851.7	+	4	543	c.543C>A	c.(541-543)ggC>ggA	p.G181G	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G190G|NCAM1_ENST00000533760.1_Silent_p.G73G	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	191	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCTGTGAGGGCAGAATCCTGG	0.498000													7	127					0.000274275	0.000275778	1	1	0
C6orf222	389384	broad.mit.edu	37	6	36298415	36298415	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:36298415G>A	ENST00000437635.2	-	2	230	c.53C>T	c.(52-54)tCt>tTt	p.S18F		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	18										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CCTGTCCAGAGACCTGGCTTT	0.607000													8	105					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5445346	5445346	+	Splice_Site	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:5445346A>G	ENST00000345221.3	-	6	3084	c.2528_splice	c.e6-1	p.L844_splice	NLRP1_ENST00000354411.3_Splice_Site_p.L844_splice|NLRP1_ENST00000572272.1_Splice_Site_p.L844_splice|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Splice_Site_p.L844_splice|NLRP1_ENST00000577119.1_Splice_Site_p.L844_splice|NLRP1_ENST00000262467.5_Splice_Site_p.L844_splice	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	844					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CAGCCAGCCAACCTGTGGAAG	0.537000													4	7					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537625	55537625	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:55537625G>A	ENST00000220676.1	+	4	1331	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	395					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)			GTCACCTATGGAGCGAAGCAG	0.433000													6	39					0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111915908	111915908	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:111915908T>C	ENST00000280346.6	+	9	1903	c.1244T>C	c.(1243-1245)gTt>gCt	p.V415A	DLAT_ENST00000393051.1_Missense_Mutation_p.V310A|DLAT_ENST00000537636.1_Missense_Mutation_p.V186A	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	415					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	ATGGCACCAGTTCCTACAGGT	0.468000													26	146					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128600	55128600	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55128600C>T	ENST00000370862.3	+	4	1078	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	248					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R248C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCAAATATTTCGCAAACTCTG	0.373000													5	28					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11897114	11897114	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:11897114C>T	ENST00000346436.6	+	19	2091	c.2039C>T	c.(2038-2040)tCc>tTc	p.S680F	CLCN6_ENST00000376487.3_Missense_Mutation_p.S658F|CLCN6_ENST00000376496.3_Missense_Mutation_p.S680F|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	680					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCCATGAAGTCCTACCCATCC	0.612000													13	53					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56347173	56347173	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:56347173C>T	ENST00000331886.5	+	23	2557	c.2103C>T	c.(2101-2103)ccC>ccT	p.P701P	DGKA_ENST00000394147.1_Silent_p.P701P|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.P701P	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	701					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ACGGAGAACCCTGGATGCAGA	0.468000													52	230					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149557754	149557754	+	Missense_Mutation	SNP	G	G	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:149557754G>C	ENST00000223210.4	+	7	1750	c.1505G>C	c.(1504-1506)cGg>cCg	p.R502P		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	p.R502L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AAATCATCTCGGTTAGTCAGA	0.448000													32	82					0	0	1	0	0
NUDT12	83594	broad.mit.edu	37	5	102895158	102895158	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:102895158G>A	ENST00000230792.2	-	3	314	c.218C>T	c.(217-219)tCa>tTa	p.S73L	NUDT12_ENST00000507423.1_Missense_Mutation_p.S55L	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	73						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		ATTGACAATTGATCTGTCACA	0.343000													6	46					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:13029765G>A	ENST00000399002.2	+	2	564	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_ENST00000378194.4_Missense_Mutation_p.R97K|SPTLC3_ENST00000476791.1_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	97					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTGTGGAAAGAAAAGAACAA	0.428000													11	43					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4929269	4929269	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:4929269C>T	ENST00000592666.1	+	0	765							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ACTACGAGGTCCGCCTGAATG	0.632000													7	56					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106970980	106970980	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:106970980C>T	ENST00000369701.3	+	17	2574	c.2347C>T	c.(2347-2349)Ctt>Ttt	p.L783F	SORCS3_ENST00000369699.4_Missense_Mutation_p.L69F	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	783						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGACTGCAGCCTTGGTCAAAG	0.473000													11	23					0	0	1	0	0
MORN1	79906	broad.mit.edu	37	1	2290105	2290105	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:2290105C>T	ENST00000378531.3	-	9	968	c.795G>A	c.(793-795)caG>caA	p.Q265Q	MORN1_ENST00000378529.3_Silent_p.Q265Q|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	265										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		AGGCTGACAGCTGCACGTATC	0.557000													5	29					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167297987	167297987	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:167297987G>A	ENST00000409855.1	-	14	2202	c.2076C>T	c.(2074-2076)acC>acT	p.T692T		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	692					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGTCCCACAAGGTCTCTACCC	0.433000													8	42					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37903036	37903036	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:37903036G>A	ENST00000309156.4	+	15	1742	c.1485G>A	c.(1483-1485)atG>atA	p.M495I	GRB7_ENST00000445327.2_Missense_Mutation_p.M518I|GRB7_ENST00000394209.2_Missense_Mutation_p.M495I|GRB7_ENST00000394204.1_3'UTR|GRB7_ENST00000394211.3_Missense_Mutation_p.M495I|GRB7_ENST00000309185.3_3'UTR	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	495	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACTTCAGCATGGATGATGGCC	0.647000													12	103					0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44636366	44636366	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:44636366C>T	ENST00000262894.6	+	5	1879	c.1599C>T	c.(1597-1599)gtC>gtT	p.V533V	ZNF225_ENST00000590612.1_Silent_p.V533V|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				ATCGCAGAGTCCACACTGGAG	0.438000													16	81					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42082637	42082637	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42082637C>T	ENST00000187608.9	+	1	51	c.11C>T	c.(10-12)cCc>cTc	p.P4L	CEACAM21_ENST00000482870.2_Intron|CEACAM21_ENST00000401445.2_Missense_Mutation_p.P4L|CEACAM21_ENST00000407170.2_Intron	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021.2	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	4						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						ATGGGGCCCCCCTCAGCTTGT	0.622000													10	26					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84606391	84606391	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:84606391T>G	ENST00000262753.4	-	5	650	c.505A>C	c.(505-507)Aca>Cca	p.T169P	POF1B_ENST00000373145.3_Missense_Mutation_p.T169P	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	169							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTTCTTATTGTTTTTTCATAA	0.264000													5	14					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104118101	104118101	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:104118101C>T	ENST00000361355.4	+	9	1656	c.1040C>T	c.(1039-1041)cCt>cTt	p.P347L	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	347					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CTTGCTCATCCTTATGGTTTT	0.323000													23	417					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60903023	60903023	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:60903023G>A	ENST00000252999.3	-	36	4762	c.4696C>T	c.(4696-4698)Ccg>Tcg	p.P1566S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1566	Laminin EGF-like 14.				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)	TGGAAGCCCGGAGAGCAGGTA	0.667000													11	86					0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39880041	39880041	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:39880041G>A	ENST00000373186.4	-	7	1085	c.948C>T	c.(946-948)aaC>aaT	p.N316N	MOCS1_ENST00000373188.2_Silent_p.N316N|MOCS1_ENST00000308559.7_Silent_p.N316N|MOCS1_ENST00000373195.3_Silent_p.N229N|MOCS1_ENST00000425303.2_Silent_p.N316N|MOCS1_ENST00000432280.2_Silent_p.N287N|MOCS1_ENST00000373175.4_Silent_p.N287N|MOCS1_ENST00000340692.5_Silent_p.N316N	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	316	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTCGCAGGCGGTTGCAGGTCC	0.572000													11	146					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074625	9074625	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9074625G>A	ENST00000397910.4	-	3	13024	c.12821C>T	c.(12820-12822)cCa>cTa	p.P4274L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4276	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						GGTAACCAATGGAGATGTGGC	0.483000													5	57					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71158482	71158482	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:71158482C>T	ENST00000283228.2	-	3	886	c.434G>A	c.(433-435)gGa>gAa	p.G145E	PTPRR_ENST00000342084.4_Missense_Mutation_p.G33E	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	145					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GGGTAAGAGTCCTAAAGCTGC	0.413000													5	53					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43905598	43905598	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:43905598G>A	ENST00000562955.1	+	50	6918	c.6918G>A	c.(6916-6918)ggG>ggA	p.G2306G	SZT2_ENST00000372442.1_Silent_p.G1464G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2363						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGGAAAAGGGGAACATTAGTA	0.567000													13	82					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6266856	6266856	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:6266856C>T	ENST00000264870.3	-	4	771	c.506G>A	c.(505-507)gGc>gAc	p.G169D		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	169					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCGAAGTACGCCATAGGGAGT	0.463000													14	98					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36099603	36099603	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:36099603C>T	ENST00000225893.4	-	2	733	c.372G>A	c.(370-372)atG>atA	p.M124I	HNF1B_ENST00000561193.1_Missense_Mutation_p.M124I|HNF1B_ENST00000427275.2_Missense_Mutation_p.M124I|HNF1B_ENST00000560016.1_Missense_Mutation_p.M124I	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	124					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			AACCCTTGATCATTTTAGCAG	0.532000													3	17					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71437568	71437568	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:71437568G>A	ENST00000265382.3	+	4	343	c.38G>A	c.(37-39)gGa>gAa	p.G13E	RP11-203L2.4_ENST00000442103.1_RNA|PIP5K1B_ENST00000541509.1_Missense_Mutation_p.G13E	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	13						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GCAGCACCTGGAAAACAAAAT	0.353000													13	57					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569050	61569050	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61569050C>T	ENST00000457692.1	+	7	945	c.612C>T	c.(610-612)ttC>ttT	p.F204F	SERPINB2_ENST00000299502.4_Silent_p.F204F|SERPINB2_ENST00000482254.1_3'UTR	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	204					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CTGTCTACTTCAAAGGAAAGT	0.383000													14	71					0	0	1	0	0
DOK2	9046	broad.mit.edu	37	8	21768320	21768320	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:21768320C>T	ENST00000276420.4	-	4	740	c.482G>A	c.(481-483)aGt>aAt	p.S161N	DOK2_ENST00000544659.1_Missense_Mutation_p.S7N	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	161	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GCACCTCTCACTGGCTTCTGT	0.622000													3	33					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259197	89259197	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:89259197G>A	ENST00000336596.2	+	3	566	c.341G>A	c.(340-342)gGa>gAa	p.G114E	EPHA3_ENST00000494014.1_Missense_Mutation_p.G114E|EPHA3_ENST00000452448.2_Missense_Mutation_p.G114E	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	114						extracellular region|integral to plasma membrane	ATP binding	p.G114E(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTGGTTTTAGGAACTTGCAAG	0.438000										TSP Lung(6;0.00050)			9	100					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31326097	31326097	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:31326097A>G	ENST00000269197.5	+	12	6285	c.6285A>G	c.(6283-6285)gaA>gaG	p.E2095E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2095					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						GCAGCTGTGAACTGGGCATGA	0.403000													15	77					0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135864540	135864540	+	Silent	SNP	C	C	T	rs145418687		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:135864540C>T	ENST00000339463.3	+	9	1422	c.603C>T	c.(601-603)ttC>ttT	p.F201F	GFI1B_ENST00000534944.1_Intron|GFI1B_ENST00000372122.1_Silent_p.F201F|GFI1B_ENST00000372123.1_Intron|GFI1B_ENST00000372124.1_Intron|GFI1B_ENST00000450530.1_Silent_p.F201F			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	201	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GCAAAACCTTCGGCCACGCTG	0.662000													7	43					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201399743	201399743	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:201399743C>T	ENST00000357799.4	+	3	256	c.158C>T	c.(157-159)tCt>tTt	p.S53F	SGOL2_ENST00000409203.3_Missense_Mutation_p.S53F	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	53					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTCAAAATATCTTTAAAGCAC	0.269000													3	13					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853269	143853269	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:143853269G>A	ENST00000507359.2	+	3	1970	c.879G>A	c.(877-879)aaG>aaA	p.K293K	KCTD16_ENST00000512467.1_Silent_p.K293K	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	293						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GCTGCTGCAAGAATGGCAAAG	0.542000													9	47					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38877323	38877323	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:38877323G>A	ENST00000359357.3	+	63	9146	c.8892G>A	c.(8890-8892)ttG>ttA	p.L2964L	DNAH8_ENST00000441566.1_Silent_p.L2928L|DNAH8_ENST00000449981.2_Silent_p.L3181L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCCGTTCTTTGAAATTTCCTG	0.468000													7	74					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915058	48915058	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:48915058G>A	ENST00000294954.7	-	11	1899	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	LHCGR_ENST00000405626.1_Silent_p.F599F|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Silent_p.F564F|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	626					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ATGTCTTAGTGAATATTGCAT	0.358000													13	109					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644879	169644879	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:169644879G>A	ENST00000428432.2	+	6	1218	c.829G>A	c.(829-831)Gat>Aat	p.D277N	SAMD7_ENST00000335556.3_Missense_Mutation_p.D277N	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	277										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GGCCTGGGACGATGGGAAAGA	0.567000													4	73					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58381187	58381187	+	Silent	SNP	C	C	T	rs141986640		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:58381187C>T	ENST00000371015.1	+	8	1733	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	PHACTR3_ENST00000359926.3_Silent_p.F419F|PHACTR3_ENST00000395636.2_Silent_p.F381F|PHACTR3_ENST00000395639.4_Silent_p.F311F|PHACTR3_ENST00000355648.4_Silent_p.F381F|PHACTR3_ENST00000361300.4_Silent_p.F311F|PHACTR3_ENST00000541461.1_Silent_p.F381F	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	422						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GGAACATTTTCCCCAGAAGGA	0.542000													13	148					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155319381	155319381	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:155319381G>A	ENST00000368346.3	-	18	8027	c.7388C>T	c.(7387-7389)tCc>tTc	p.S2463F	ASH1L_ENST00000392403.3_Missense_Mutation_p.S2458F			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2463	Bromo.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGCTTGCCGGGAAGAATCTGC	0.413000													5	18					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130830989	130830989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:130830989C>T	ENST00000245255.3	+	5	663	c.391C>T	c.(391-393)Cag>Tag	p.Q131*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	131					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GGCCTTATATCAGTATCACAT	0.418000													5	39					0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676125	123676125	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123676125C>T	ENST00000309154.2	-	1	970	c.933G>A	c.(931-933)agG>agA	p.R311R		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GTCAAGTTTTCCTTTGTATCA	0.373000													7	70					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55328594	55328594	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:55328594C>T	ENST00000536015.1	-	22	2638	c.2519G>A	c.(2518-2520)aGg>aAg	p.R840K	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.R840K|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	840					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)				TTCTAGCCTCCTTTTACTTTG	0.483000													14	47					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614165	36614165	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:36614165C>T	ENST00000311485.3	-	2	1715	c.1554G>A	c.(1552-1554)aaG>aaA	p.K518K		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	518					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GAAAGGATTTCTTGGCAGGAG	0.358000									Familial Hemophagocytic Lymphohistiocytosis				9	36					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128135036	128135036	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:128135036G>A	ENST00000368250.1	-	5	1011	c.513C>T	c.(511-513)gtC>gtT	p.V171V	THEMIS_ENST00000368248.2_Silent_p.V250V|THEMIS_ENST00000543064.1_Silent_p.V250V|THEMIS_ENST00000537166.1_Silent_p.V215V			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	250	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTTTGACTTCGACATCTAGAC	0.348000													9	111					0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44190810	44190810	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:44190810G>A	ENST00000357199.4	-	2	153	c.75C>T	c.(73-75)ttC>ttT	p.F25F	WFDC8_ENST00000289953.2_Silent_p.F25F	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	25						extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GAAGCAGCAGGAAAGCTACAT	0.483000													5	38					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91077094	91077094	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:91077094G>A	ENST00000357056.2	-	17	2079	c.1958C>T	c.(1957-1959)cCc>cTc	p.P653L	TTC7B_ENST00000328459.6_Missense_Mutation_p.P653L|TTC7B_ENST00000554654.1_5'UTR			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	653							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ACCTGTCTCGGGATCGCTGAA	0.498000													10	56					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142498916	142498916	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142498916G>A	ENST00000466254.1	+	0	192																											GCCCCTCAAGGAGCAGCCCGC	0.642000													4	123					0	0	1	0	0
SYCN	342898	broad.mit.edu	37	19	39694666	39694666	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:39694666C>T	ENST00000318438.6	-	1	240	c.229G>A	c.(229-231)Gcc>Acc	p.A77T		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	77					exocytosis	transport vesicle membrane				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGTGAGGAGGCGGTGTTGGCC	0.682000													4	20					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945291	4945291	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4945291C>T	ENST00000321961.2	-	1	346	c.279G>A	c.(277-279)gaG>gaA	p.E93E	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATGCCAATCTCTCTGGTAT	0.488000													6	44					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14842639	14842639	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:14842639G>A	ENST00000380881.4	-	10	2231	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	FREM1_ENST00000422223.2_Silent_p.F471F|FREM1_ENST00000380880.3_Silent_p.F471F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	471					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGCCACGGTGAAGAGAAACC	0.527000													6	59					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123046501	123046501	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:123046501G>A	ENST00000462833.1	-	7	3123	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	ADCY5_ENST00000491190.1_Silent_p.I270I|ADCY5_ENST00000309879.5_Silent_p.I287I	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	637					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGAAGGTCTCGATACTGTGCT	0.622000													4	39					0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35088238	35088238	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:35088238G>A	ENST00000311875.5	-	7	1357	c.940C>T	c.(940-942)Ctc>Ttc	p.L314F	TCP11_ENST00000373979.2_Missense_Mutation_p.L239F|TCP11_ENST00000418521.2_Missense_Mutation_p.L238F|TCP11_ENST00000412155.2_Missense_Mutation_p.L263F|TCP11_ENST00000373974.4_Missense_Mutation_p.L268F|TCP11_ENST00000244645.3_Missense_Mutation_p.L239F|TCP11_ENST00000444780.2_Missense_Mutation_p.L309F|TCP11_ENST00000512012.1_Missense_Mutation_p.L301F			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	301					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						AGGTCCCAGAGAAGGAGGTTC	0.572000													26	154					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354506	42354506	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42354506G>A	ENST00000596827.1	+	7	968	c.882G>A	c.(880-882)agG>agA	p.R294R	DMRTC2_ENST00000269945.3_Intron			Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	275	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GAAAAAGCAGGAAACTGAAGG	0.597000													7	102					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8166505	8166505	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:8166505C>T	ENST00000314666.6	+	13	1622	c.1489C>T	c.(1489-1491)Cgt>Tgt	p.R497C	PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.R73C	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	497					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAAGATGAACCGTGTGATCAG	0.567000													20	102					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37690635	37690635	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:37690635G>A	ENST00000315215.7	+	9	1568	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q	GPR124_ENST00000412232.2_Missense_Mutation_p.R402Q			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	402					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)			GCCTCCCGCCGGTGTGACCGT	0.662000													9	78					0	0	1	0	0
KPNA4	3840	broad.mit.edu	37	3	160219966	160219966	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:160219966G>A	ENST00000334256.4	-	17	1797	c.1492C>T	c.(1492-1494)Cca>Tca	p.P498S		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	498					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATTGCCTCTGGAACAAGGCTA	0.338000													23	102					0	0	1	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54971287	54971287	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:54971287G>A	ENST00000547431.1	-	6	374	c.347C>T	c.(346-348)tCc>tTc	p.S116F	PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000243052.3_Intron|PDE1B_ENST00000538346.1_Intron|PDE1B_ENST00000550620.1_Intron			Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	0					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						AGTGTGGGTGGAGCAGGGAAA	0.557000													9	100					0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970635	45970635	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:45970635C>T	ENST00000391621.1	-	1	753	c.707G>A	c.(706-708)cGc>cAc	p.R236H	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	236						keratin filament				large_intestine(1)|lung(4)|skin(1)	6						GCACACGGGGCGGCAGAGGAG	0.667000													8	124					0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76388580	76388580	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:76388580C>T	ENST00000262764.6	+	2	193	c.167C>T	c.(166-168)cCc>cTc	p.P56L	PGS1_ENST00000329897.7_Intron	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	56					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TTATTGGCTCCCTTGCTGTCC	0.537000													4	54					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58711311	58711311	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:58711311C>T	ENST00000305921.3	+	3	1031	c.799C>T	c.(799-801)Cct>Tct	p.P267S		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	267	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TGACCAGATTCCTTTTCTGGC	0.393000													9	56					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085846	9085846	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9085846A>T	ENST00000397910.4	-	1	6172	c.5969T>A	c.(5968-5970)gTt>gAt	p.V1990D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1990	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						TTCTGAAGAAACTGCATGTAG	0.463000													12	58					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357222	38357222	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:38357222C>T	ENST00000379705.3	-	2	1106	c.249G>A	c.(247-249)ttG>ttA	p.L83L	TRPC4_ENST00000379681.3_Silent_p.L83L|TRPC4_ENST00000338947.5_Silent_p.L83L|TRPC4_ENST00000355779.2_Silent_p.L83L|TRPC4_ENST00000447043.1_Silent_p.L83L|TRPC4_ENST00000426868.2_Silent_p.L83L|TRPC4_ENST00000379673.2_Silent_p.L83L|TRPC4_ENST00000358477.2_Silent_p.L83L|TRPC4_ENST00000379679.1_Silent_p.L83L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	83					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		Cgatgagctccaagttctcat	0.368000													3	36					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990861	47990861	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:47990861G>A	ENST00000371741.4	-	2	1402	c.1236C>T	c.(1234-1236)atC>atT	p.I412I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	412					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGTTATTGACGATGATGGGGA	0.512000													4	87					0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111342546	111342546	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:111342546C>T	ENST00000308208.5	+	11	1739	c.1497C>T	c.(1495-1497)gtC>gtT	p.V499V	CCDC63_ENST00000552694.1_Silent_p.V420V|CCDC63_ENST00000545036.1_Silent_p.V459V	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	499										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CCATCAAAGTCATCCCCCCAG	0.587000													8	61					0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884930	53884930	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:53884930C>T	ENST00000467003.1	+	4	1191	c.990C>T	c.(988-990)ttC>ttT	p.F330F	ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Silent_p.F366F|ZNF525_ENST00000355326.3_Silent_p.F84F					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						CTTTCAGTTTCAAATCAAACC	0.388000													8	32					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111643171	111643171	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:111643171G>A	ENST00000261486.5	-	2	392	c.116C>T	c.(115-117)tCc>tTc	p.S39F		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	39	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AAGGACAACGGAACCTTTCGT	0.388000													5	33					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741356	48741356	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48741356G>A	ENST00000285238.8	+	10	1302	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	ABCC3_ENST00000427699.1_Missense_Mutation_p.E408K	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	408	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CACTGTGGGGGAAATTGTCAA	0.567000													11	92					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539937	55539937	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:55539937G>A	ENST00000220676.1	+	4	3643	c.3495G>A	c.(3493-3495)gaG>gaA	p.E1165E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1165					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)			CATTGTTGGAGATTCTAAAGC	0.428000													5	77					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107678000	107678000	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:107678000A>C	ENST00000388781.3	-	30	4595	c.4512T>G	c.(4510-4512)aaT>aaG	p.N1504K	LAMB4_ENST00000205386.4_Missense_Mutation_p.N1504K|LAMB4_ENST00000388780.3_Missense_Mutation_p.N1504K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1504	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAAGCACACCATTCGCAACCT	0.398000													6	131					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23637631	23637631	+	Missense_Mutation	SNP	C	C	T	rs45476495		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:23637631C>T	ENST00000261584.4	-	7	2826	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	892	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ACTACATCTTCGCAAGCAGTT	0.463000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					13	94					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123517019	123517019	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:123517019G>A	ENST00000223026.4	+	5	1894	c.1256G>A	c.(1255-1257)gGa>gAa	p.G419E	HYAL4_ENST00000476325.1_Missense_Mutation_p.G419E	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	419					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACTGTGAAAGGAAAAGCATCT	0.468000													12	118					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5220972	5220972	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5220972C>T	ENST00000321255.1	-	1	958	c.959G>A	c.(958-960)aGa>aAa	p.R320K		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTCAATATCTTTTCAGAGA	0.308000													5	23					0	0	1	0	0
MYOZ1	58529	broad.mit.edu	37	10	75393768	75393768	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:75393768G>A	ENST00000359322.4	-	5	922	c.558C>T	c.(556-558)tcC>tcT	p.S186S		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	186					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GCTCCCATGGGGAAATATAGG	0.478000													3	63					0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171174591	171174591	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:171174591C>T	ENST00000441535.1	+	7	1118	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.S334F	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	334					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATAGTTTCTCTTTTCCCTTC	0.413000													4	45					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583078	7583078	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:7583078G>A	ENST00000379802.3	+	24	5924	c.5583G>A	c.(5581-5583)caG>caA	p.Q1861Q	DSP_ENST00000418664.2_Silent_p.Q1262Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1861	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)		AGCAAATTCAGAATGACCTGA	0.473000													5	67					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104538	5104538	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:5104538C>T	ENST00000396912.1	+	5	1970	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.S484F	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	484	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAAGAGAAATCCCATGAATGT	0.373000													8	54					0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	64022864	64022864	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:64022864G>T	ENST00000371088.4	+	10	1540	c.1294G>T	c.(1294-1296)Gaa>Taa	p.E432*	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	432	EF-hand 3.						calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TAATTTTTTTGAATTGAGAAC	0.289000													10	30					3.86212e-05	3.88985e-05	1	1	0
PDE1C	5137	broad.mit.edu	37	7	31890254	31890254	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:31890254C>T	ENST00000396184.3	-	9	1056		c.e9+1		PDE1C_ENST00000321453.7_Splice_Site|PDE1C_ENST00000396193.1_Splice_Site|PDE1C_ENST00000396191.1_Splice_Site|PDE1C_ENST00000396182.2_Splice_Site	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AACACCCTCACCGAGTCTGAA	0.453000													7	61					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2019092	2019092	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:2019092C>T	ENST00000382722.5	-	4	828	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E156K|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E92K|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E156K|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E92K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E156K	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	156						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCATTGAATTCGTGGTTCAGG	0.587000													4	20					0	0	1	0	0
OR5K2	402135	broad.mit.edu	37	3	98217323	98217323	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:98217323G>A	ENST00000427338.1	+	1	876	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E267Q(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTTGCTTGAAGAAGGAGGTAA	0.328000													7	32					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81053372	81053372	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:81053372C>T	ENST00000334512.5	+	12	1764	c.1192C>T	c.(1192-1194)Ctt>Ttt	p.L398F	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	398	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCCCCAGTCCCTTCCTATTCA	0.652000													6	136					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909511	123909511	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123909511G>A	ENST00000330487.5	-	1	206	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACATGTCAATGAAGGACAGGT	0.562000													9	84					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137026271	137026271	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:137026271C>T	ENST00000359015.4	-	3	949	c.588_splice	c.e3-1	p.E197_splice		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	197					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CAAATTATTTCCTGAAAAACA	0.234000													5	30					0	0	1	0	0
LEP	3952	broad.mit.edu	37	7	127894610	127894610	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:127894610G>A	ENST00000308868.4	+	3	349	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	100					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						AATATCCAACGACCTGGAGAA	0.567000													13	91					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36287142	36287142	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:36287142C>T	ENST00000437635.2	-	11	2091	c.1914G>A	c.(1912-1914)gaG>gaA	p.E638E		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	638										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CCGGCTGGTCCTCCCTGTATG	0.537000													21	91					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90411285	90411285	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:90411285G>A	ENST00000369393.3	-	55	8534	c.8419C>T	c.(8419-8421)Cct>Tct	p.P2807S	MDN1_ENST00000428876.1_Missense_Mutation_p.P2807S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2807					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACCTTAAAAGGAAACGGTCGT	0.408000													12	72					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480669	57480669	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:57480669G>A	ENST00000371236.2	-	12	1594	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	DAB1_ENST00000371234.4_Missense_Mutation_p.S444F|DAB1_ENST00000420954.2_Missense_Mutation_p.S442F|DAB1_ENST00000371231.1_Missense_Mutation_p.S477F|DAB1_ENST00000414851.2_Missense_Mutation_p.S426F|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.S358F			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	477					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GAAGTAACTGGAGAAGGCCTC	0.547000													9	75					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57931808	57931808	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:57931808C>T	ENST00000564448.1	-	30	3029	c.2969G>A	c.(2968-2970)gGc>gAc	p.G990D	CNGB1_ENST00000251102.8_Missense_Mutation_p.G996D			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	996					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CATCTCACGGCCGATCTCCCC	0.572000													10	127					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7673916	7673916	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:7673916C>T	ENST00000572933.1	+	26	5600	c.4140C>T	c.(4138-4140)ctC>ctT	p.L1380L	DNAH2_ENST00000389173.2_Silent_p.L1380L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1380	Stem (By similarity).				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)				TGACTCAGCTCGACATAGTAC	0.542000													7	54					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151780097	151780097	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:151780097C>T	ENST00000356728.6	-	10	1499	c.1345G>A	c.(1345-1347)Ggg>Agg	p.G449R	RORC_ENST00000392697.3_Missense_Mutation_p.G524R|RORC_ENST00000318247.6_Missense_Mutation_p.G470R|RORC_ENST00000480719.1_5'UTR	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	470	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGAAGCTTCCCCTTGGGTGGC	0.557000													10	56					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42333050	42333050	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:42333050G>A	ENST00000262418.6	-	14	1946	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	597	Involved in anion transport.|Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCTTGCCAGGGAAATAGGAGC	0.587000													7	50					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56410191	56410191	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56410191C>T	ENST00000588751.1	-	10	2926	c.2902G>A	c.(2902-2904)Gga>Aga	p.G968R	NLRP13_ENST00000342929.3_Missense_Mutation_p.G968R			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	968							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGCTTCACTCCATCATCCTGA	0.458000													9	91					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2959073	2959073	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:2959073G>A	ENST00000396946.4	-	18	2846	c.2443C>T	c.(2443-2445)Ctg>Ttg	p.L815L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	815				L -> P (in Ref. 1; AAG53402).	positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGCGCGCACAGCCACTCGTGC	0.607000			Mis		DLBCL								8	46					0	0	1	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399515	89399515	+	RNA	SNP	C	C	T	rs2848410		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:89399515C>T	ENST00000479981.1	-	0	214																											AGGGGCTTTCCCTGGTTTCTG	0.512000													10	137					0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131515099	131515099	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:131515099G>A	ENST00000291900.2	-	5	1182	c.776C>T	c.(775-777)tCc>tTc	p.S259F		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	259					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GTAGTAGCTGGAGAGGCGGTC	0.577000													10	52					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45960796	45960796	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:45960796C>T	ENST00000348697.2	+	15	1877	c.1730C>T	c.(1729-1731)cCa>cTa	p.P577L	FBLN1_ENST00000442170.2_Missense_Mutation_p.P577L|FBLN1_ENST00000327858.6_Intron			P23142	FBLN1_HUMAN	fibulin 1	573	EGF-like 9; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CAGAACACCCCAGCGGGATCA	0.537000													3	38					0	0	1	0	0
IFNL1	282618	broad.mit.edu	37	19	39788657	39788657	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:39788657C>T	ENST00000333625.2	+	3	400	c.303C>T	c.(301-303)gtC>gtT	p.V101V		NM_172140.1	NP_742152.1			interferon, lambda 1																		CGCTGAAGGTCCTGGAGGCCG	0.637000													10	61					0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229730571	229730571	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:229730571G>A	ENST00000258281.2	-	5	1408	c.1243C>T	c.(1243-1245)Cgg>Tgg	p.R415W	TAF5L_ENST00000366676.1_Missense_Mutation_p.R415W	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	415					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GGGTACGTCCGATCAAATGAC	0.547000													18	86					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599543	136599543	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:136599543C>T	ENST00000531224.1	-	4	728	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R157Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R159Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R157Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R157Q|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R159Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	159					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			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)		CTGAGACCCTCGTCTTTTAGA	0.428000													15	166					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53957906	53957906	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:53957906C>T	ENST00000396328.1	-	14	2064	c.1825G>A	c.(1825-1827)Gat>Aat	p.D609N	WDR72_ENST00000557913.1_Missense_Mutation_p.D606N|WDR72_ENST00000360509.5_Missense_Mutation_p.D609N|WDR72_ENST00000559418.1_Missense_Mutation_p.D619N	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	609										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGCTGTGAATCATCACAACAA	0.408000													7	56					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105510107	105510107	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:105510107G>A	ENST00000276654.5	-	5	781	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	LRP12_ENST00000424843.2_Missense_Mutation_p.R206C	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	225	LDL-receptor class A 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.R225S(1)		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)			TTGGTAAAACGGGATAAACAC	0.448000													10	75					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56864660	56864660	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:56864660T>A	ENST00000520220.2	+	7	834	c.560T>A	c.(559-561)aTt>aAt	p.I187N	LYN_ENST00000519728.1_Missense_Mutation_p.I208N	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	208	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AGCGACATGATTAAACATTAC	0.328000													4	44					0	0	1	0	0
FBXO21	23014	broad.mit.edu	37	12	117628210	117628210	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:117628210C>T	ENST00000427718.2	-	1	126	c.52G>A	c.(52-54)Gag>Aag	p.E18K	FBXO21_ENST00000330622.5_Missense_Mutation_p.E18K	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	18					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		gcggcctcctccgccagcgcc	0.741000													3	7					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101353791	101353791	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:101353791C>T	ENST00000344327.3	-	5	1823	c.1399G>A	c.(1399-1401)Ggc>Agc	p.G467S	TRPC6_ENST00000360497.4_Missense_Mutation_p.G412S|TRPC6_ENST00000532133.1_Missense_Mutation_p.G467S|TRPC6_ENST00000348423.4_Missense_Mutation_p.G351S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	467					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGTTTTGTGCCTTCAAATCTG	0.433000													8	50					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341976	121341976	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121341976G>A	ENST00000338040.4	+	3	2114	c.1700G>A	c.(1699-1701)gGa>gAa	p.G567E		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	567					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGTCATGGAGGAAAAAGCCAG	0.517000													36	96					0	0	1	0	0
IGHV3-9	28451	broad.mit.edu	37	14	106552703	106552703	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:106552703G>A	ENST00000390600.2	-	0	106																											TAGCCAAAAGGAAAATCCAGC	0.478000													15	57					0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	63959575	63959575	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:63959575A>T	ENST00000373789.3	-	11	1328	c.1232T>A	c.(1231-1233)aTg>aAg	p.M411K	RTKN2_ENST00000395265.1_Missense_Mutation_p.M432K|RTKN2_ENST00000315289.2_Missense_Mutation_p.M213K	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	411					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CCGTGGTGACATAATCTCAAT	0.373000													5	60					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93964514	93964514	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:93964514C>T	ENST00000369303.4	-	14	2567	c.2382_splice	c.e14-1	p.G795_splice		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	795	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTTTTCCACCCTGTTATAAA	0.358000													3	23					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460096	107460096	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:107460096G>A	ENST00000409382.3	-	2	948	c.338C>T	c.(337-339)tCa>tTa	p.S113L	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S113L|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S113L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	113					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CACCTGGGATGAAAAAAACTC	0.562000													11	111					0	0	1	0	0
CA7	766	broad.mit.edu	37	16	66887392	66887392	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:66887392C>T	ENST00000394069.3	+	7	1049	c.618C>T	c.(616-618)ttC>ttT	p.F206F	CA7_ENST00000338437.2_Silent_p.F262F	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	262					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AGGCCTCCTTCCGGGCCTGAG	0.597000													3	29					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228432124	228432124	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:228432124G>A	ENST00000570156.2	+	12	3683	c.3609G>A	c.(3607-3609)ggG>ggA	p.G1203G	OBSCN_ENST00000422127.1_Silent_p.G1111G|OBSCN_ENST00000284548.11_Silent_p.G1111G|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	147	Ig-like 12.				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)				ACAAGGATGGGAAGAAGCTGA	0.612000													8	83					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919457	48919457	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:48919457C>T	ENST00000310194.1	+	1	43	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GTTCCTCCTCCTTGGGCTGTC	0.498000													16	156					0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39503326	39503326	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39503326C>T	ENST00000007735.3	-	4	781	c.737G>A	c.(736-738)tGg>tAg	p.W246*		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	246	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CGTGGCGAACCATTGCTCCAC	0.627000													4	43					0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951656	130951656	+	Silent	SNP	C	C	T	rs139275097	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:130951656C>T	ENST00000312988.7	-	4	859	c.759G>A	c.(757-759)acG>acA	p.T253T		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	253					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TCTGGAATTCCGTCAAGTCCA	0.597000													16	107					0	0	1	0	0
KLK10	5655	broad.mit.edu	37	19	51518161	51518161	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51518161G>A	ENST00000309958.3	-	6	944	c.726C>T	c.(724-726)atC>atT	p.I242I	KLK10_ENST00000391805.1_Silent_p.I242I|KLK10_ENST00000358789.3_Silent_p.I242I	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	242	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CCCACGAGAGGATGCCTTGGA	0.547000													6	63					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76878049	76878049	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:76878049G>A	ENST00000328299.3	+	3	718	c.570G>A	c.(568-570)gaG>gaA	p.E190E	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	190					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGACCACAGAGAAGCGCATGA	0.408000													4	54					0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32421568	32421568	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:32421568C>T	ENST00000332351.3	-	6	1308	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	WT1_ENST00000379079.2_Missense_Mutation_p.D130N|WT1_ENST00000530998.1_Missense_Mutation_p.D113N|WT1_ENST00000448076.3_Missense_Mutation_p.D342N	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	274			M -> R (in DDS).		adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTGTGGTTATCGCTCTCGTAC	0.542000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				4	19					0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905007	15905007	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15905007G>A	ENST00000308940.8	+	1	247	c.149G>A	c.(148-150)tGg>tAg	p.W50*		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	50					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						GCCACTGTCTGGAGCGAGCGC	0.602000													15	85					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94526105	94526105	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94526105C>T	ENST00000370225.3	-	14	2234	c.2148G>A	c.(2146-2148)acG>acA	p.T716T	ABCA4_ENST00000535735.1_Silent_p.T716T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	716			T -> M (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGATGAATATCGTCAGGAGGA	0.458000													17	67					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860230	228860230	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:228860230G>A	ENST00000392056.3	-	8	4675	c.4629C>T	c.(4627-4629)tcC>tcT	p.S1543S	SPHKAP_ENST00000344657.5_Silent_p.S1543S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1543						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)		GGTACCTCATGGATCGCTCAC	0.483000													21	189					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746651	95746651	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:95746651C>T	ENST00000311106.3	-	8	1159	c.922G>A	c.(922-924)Gga>Aga	p.G308R	PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.G261R	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	308	Catalytic.				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)	CCCCCGTTTCCCGAAGCCCAG	0.512000													36	145					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153219622	153219622	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:153219622G>A	ENST00000310441.7	-	17	5194	c.4228C>T	c.(4228-4230)Cct>Tct	p.P1410S	HCFC1_ENST00000354233.3_Missense_Mutation_p.P1341S|HCFC1_ENST00000369984.4_Missense_Mutation_p.P1410S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1410					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTTGGGAAAGGAGCCAGCAGC	0.647000													9	35					0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207510695	207510695	+	Missense_Mutation	SNP	C	C	T	rs12135160		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:207510695C>T	ENST00000367064.3	+	8	1259	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	CD55_ENST00000367062.4_Missense_Mutation_p.S334F|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367063.2_Missense_Mutation_p.S334F|CD55_ENST00000391921.4_Missense_Mutation_p.S270F|CD55_ENST00000314754.8_Missense_Mutation_p.S334F|CD55_ENST00000367065.5_Missense_Mutation_p.S334F|CD55_ENST00000391920.4_Missense_Mutation_p.S334F|CD55_ENST00000465534.1_3'UTR	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	334	Ser/Thr-rich.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	ACACCTGTTTCCAGGACAACC	0.423000													17	62					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20458106	20458106	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:20458106G>A	ENST00000361078.2	-	15	2404	c.2382C>T	c.(2380-2382)gcC>gcT	p.A794A	PUM2_ENST00000403432.1_Silent_p.A794A|PUM2_ENST00000319801.5_Silent_p.A715A|PUM2_ENST00000536417.1_Silent_p.A738A|PUM2_ENST00000338086.5_Silent_p.A794A			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)					GAGTAGCCAGGGCTAATTTTT	0.398000													18	45					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769807	247769807	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:247769807G>A	ENST00000320002.2	+	1	952	c.920G>A	c.(919-921)gGa>gAa	p.G307E	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	307					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)			CTTCTCTCGGGAAAATTGTGA	0.383000													6	44					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1104127	1104127	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:1104127G>A	ENST00000441003.2	+	49	8345	c.8318G>A	c.(8317-8319)aGc>aAc	p.S2773N		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5135						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)	GTGGTCCTGAGCTGCCCCAAT	0.682000													6	25					0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38078544	38078544	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:38078544C>T	ENST00000356545.2	-	8	1462	c.675G>A	c.(673-675)agG>agA	p.R225R	RSPO1_ENST00000401068.1_Silent_p.R225R|RSPO1_ENST00000401069.1_Silent_p.R225R|RSPO1_ENST00000401070.1_Silent_p.R162R|RSPO1_ENST00000401071.2_Silent_p.R162R|RSPO1_ENST00000373059.1_Silent_p.R198R	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	225					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCCAGGTTCCTGTTGGCAT	0.607000													13	88					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780930	94780930	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94780930G>T	ENST00000341584.3	-	2	202	c.56C>A	c.(55-57)aCc>aAc	p.T19N		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	19					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGCCTGGACGGTCCAGAGGCC	0.542000													21	114					3.62473e-10	3.66546e-10	1	1	0
FAM159A	348378	broad.mit.edu	37	1	53122529	53122529	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:53122529G>A	ENST00000517870.1	+	3	540	c.390G>A	c.(388-390)gtG>gtA	p.V130V	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	130						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TGCCAAAAGTGAGCCCTCTCC	0.562000													18	86					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102649963	102649963	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:102649963C>T	ENST00000279441.4	-	3	513	c.477G>A	c.(475-477)atG>atA	p.M159I		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	159					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CAAAAGAGATCATTATATCAG	0.403000													15	87					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57258330	57258330	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:57258330C>T	ENST00000343433.6	-	2	236	c.156G>A	c.(154-156)ggG>ggA	p.G52G	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	52										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGAGGGGTTTCCCATTGGCCA	0.483000													26	189					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65412046	65412046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:65412046C>T	ENST00000519389.1	+	7	1479	c.1300C>T	c.(1300-1302)Cga>Tga	p.R434*	HEPH_ENST00000441993.2_Nonsense_Mutation_p.R383*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.R380*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.R383*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.R383*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.R113*			Q9BQS7	HEPH_HUMAN	hephaestin	380	Plastocyanin-like 3.				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						AGGCAAAGTTCGACAGTACTT	0.522000													11	25					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2774880	2774880	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:2774880C>T	ENST00000380605.2	-	14	2225	c.2161G>A	c.(2161-2163)Gac>Aac	p.D721N		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	721					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTGCGAAGGTCCGGGGGCACC	0.622000													12	79					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027678	161027678	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:161027678C>T	ENST00000447678.1	-	18	2736	c.2616G>A	c.(2614-2616)atG>atA	p.M872I	LPA_ENST00000316300.5_Missense_Mutation_p.M872I	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3380	Kringle 8.				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)	TGCAGTAGTTCATGATCAAGC	0.517000													20	154					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38950766	38950766	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38950766G>A	ENST00000357387.3	-	31	3214	c.3184C>T	c.(3184-3186)Ctt>Ttt	p.L1062F	RICTOR_ENST00000296782.5_Missense_Mutation_p.L1062F	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1062					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)					TTGATATCAAGGAAAAATGTG	0.348000													7	77					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203807494	203807494	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:203807494C>T	ENST00000320443.8	+	4	1153	c.110C>T	c.(109-111)tCc>tTc	p.S37F	CARF_ENST00000471271.1_3'UTR|CARF_ENST00000438828.2_Missense_Mutation_p.S37F|CARF_ENST00000444724.1_Missense_Mutation_p.S37F|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Intron|CARF_ENST00000545262.1_Intron|CARF_ENST00000434998.1_Intron|CARF_ENST00000414439.1_Intron|CARF_ENST00000402905.2_Missense_Mutation_p.S37F|CARF_ENST00000456821.2_Missense_Mutation_p.S25F|CARF_ENST00000545253.1_Intron					calcium responsive transcription factor																		AGGGATTCTTCCTTTGGACAA	0.353000													8	23					0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39578648	39578648	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39578648G>A	ENST00000225550.3	-	4	770	c.771C>T	c.(769-771)ttC>ttT	p.F257F	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	257	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCTCGATCCGGAACTTCTCCC	0.557000													15	172					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87060767	87060767	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:87060767C>T	ENST00000265723.4	-	15	1957	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	ABCB4_ENST00000545634.1_Missense_Mutation_p.E616K|ABCB4_ENST00000453593.1_Missense_Mutation_p.E616K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E616K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E616K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	616	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.E616K(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTCATCAGTTCGCTGTGGCTT	0.453000													18	101					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74834197	74834197	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:74834197C>T	ENST00000290536.5	-	4	696	c.580G>A	c.(580-582)Gat>Aat	p.D194N	M1AP_ENST00000536235.1_Missense_Mutation_p.D194N|M1AP_ENST00000409585.1_Missense_Mutation_p.D194N|M1AP_ENST00000358434.2_5'UTR	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		TTGCTGGTATCCTCAACAGGA	0.423000													7	64					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48149449	48149449	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48149449C>T	ENST00000320031.8	+	7	1389	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	ITGA3_ENST00000007722.7_Silent_p.F353F|ITGA3_ENST00000544892.1_Silent_p.F128F	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	353					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GAACCTCCTTCCCTGCTCACC	0.567000													17	59					0	0	1	0	0
COL10A1	1300	broad.mit.edu	37	6	116442585	116442585	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:116442585C>T	ENST00000327673.4	-	2	1101	c.694G>A	c.(694-696)Ggc>Agc	p.G232S	AL121963.1_ENST00000430695.1_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.G232S|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	232	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CCTTTGATGCCTGGCTGTCCT	0.587000													7	58					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43156451	43156451	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:43156451G>A	ENST00000252050.4	+	8	2262	c.2178G>A	c.(2176-2178)ctG>ctA	p.L726L	CUL9_ENST00000354495.3_Silent_p.L616L|CUL9_ENST00000372647.2_Silent_p.L726L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	726					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACAGATCGCTGAGGTTAGCAT	0.547000													4	44					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467514	74467514	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:74467514C>T	ENST00000249842.3	+	2	672	c.315C>T	c.(313-315)ctC>ctT	p.L105L	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.L105L	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	105					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCTGGACCTCAGCCACAATC	0.607000													4	43					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65032495	65032495	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:65032495G>A	ENST00000394156.3	-	4	946	c.493C>T	c.(493-495)Cat>Tat	p.H165Y	CDH11_ENST00000268603.4_Missense_Mutation_p.H165Y|CDH11_ENST00000566827.1_Missense_Mutation_p.H39Y			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	165	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACGTTGGCATGATAGGTCTCG	0.597000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			15	72					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39174638	39174638	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:39174638C>T	ENST00000301819.6	+	20	2859	c.2682C>T	c.(2680-2682)atC>atT	p.I894I	TTC21A_ENST00000440121.1_Silent_p.I845I|TTC21A_ENST00000431162.2_Silent_p.I893I|TTC21A_ENST00000493856.1_3'UTR	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	893							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTATCTGCATCCAATTTGCAG	0.498000													13	29					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87235216	87235216	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:87235216C>T	ENST00000297524.3	-	2	905	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	SLC7A13_ENST00000419776.2_Missense_Mutation_p.E259K|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	268						integral to membrane	amino acid transmembrane transporter activity	p.E268K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GAGAGAATTTCCCTGGGTGTC	0.383000													14	60					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525925	176525925	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:176525925C>T	ENST00000367662.3	+	2	1631	c.467C>T	c.(466-468)tCt>tTt	p.S156F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S156F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	156					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCAAGGAGTCTCTAGGTGAG	0.547000													12	95					0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39975505	39975505	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39975505C>T	ENST00000321562.4	+	5	875	c.771C>T	c.(769-771)ctC>ctT	p.L257L		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	257	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TTCACGTCCTCCTGATTGACG	0.627000													12	123					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150905410	150905410	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:150905410G>A	ENST00000261800.5	-	17	10437	c.10425C>T	c.(10423-10425)ttC>ttT	p.F3475F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3475	Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTCACTCGGAAGGCAGAGC	0.577000													7	68					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357402	36357402	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:36357402C>T	ENST00000347900.6	+	15	1926	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	KIRREL2_ENST00000592409.1_3'UTR|KIRREL2_ENST00000262625.7_Silent_p.F622F|KIRREL2_ENST00000360202.5_3'UTR|NPHS1_ENST00000591817.1_5'UTR|KIRREL2_ENST00000586102.2_3'UTR	NM_199179.2	NP_954648.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	0					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGACATCTTTCCAATGGAAGA	0.552000													11	141					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677071	100677071	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100677071G>A	ENST00000306151.4	+	3	2438	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	792	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAACCACTGAAGGTACCAG	0.483000													29	356					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231930	21231930	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21231930G>A	ENST00000233242.1	-	26	7937	c.7810C>T	c.(7810-7812)Ctt>Ttt	p.L2604F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2604					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGAGCCTGAAGACTGACTTCA	0.433000													15	73					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10615052	10615052	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:10615052G>A	ENST00000547195.1	-	16	2389	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	MRVI1_ENST00000424001.1_Missense_Mutation_p.S406F|MRVI1_ENST00000531107.1_Missense_Mutation_p.S713F|MRVI1_ENST00000552103.1_Missense_Mutation_p.S630F|MRVI1_ENST00000558540.1_Missense_Mutation_p.S406F|MRVI1_ENST00000545852.1_Missense_Mutation_p.S406F|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000421747.1_Missense_Mutation_p.S712F|MRVI1_ENST00000423302.2_Missense_Mutation_p.S721F|MRVI1_ENST00000541483.1_Missense_Mutation_p.S515F|MRVI1_ENST00000527509.2_Missense_Mutation_p.S630F|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000534266.2_Missense_Mutation_p.S406F|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000436272.1_Missense_Mutation_p.S694F	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	694					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGCTGGTAAGGAGGGAATGGA	0.522000													5	58					0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158571503	158571503	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:158571503C>G	ENST00000367102.2	-	4	388	c.247G>C	c.(247-249)Gac>Cac	p.D83H	SERAC1_ENST00000367104.3_Missense_Mutation_p.D83H|SERAC1_ENST00000607000.1_Missense_Mutation_p.D83H|SERAC1_ENST00000367101.1_Missense_Mutation_p.D83H			Q96JX3	SRAC1_HUMAN	serine active site containing 1	83					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)		TCTCCTTTGTCTAAAGAAACT	0.328000													4	36					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31267642	31267642	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:31267642C>T	ENST00000265071.2	+	2	327	c.62C>T	c.(61-63)tCa>tTa	p.S21L	CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	21					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCAACTCTCTCAACTCCACTA	0.522000													12	107					0	0	1	0	0
C5orf30	90355	broad.mit.edu	37	5	102611671	102611671	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:102611671C>T	ENST00000319933.2	+	3	359	c.51C>T	c.(49-51)ccC>ccT	p.P17P	C5orf30_ENST00000515669.1_Silent_p.P17P|C5orf30_ENST00000510890.1_Silent_p.P17P	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	17										NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		CCACCTTGCCCTTCCCTGGGG	0.547000													5	38					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852968	40852968	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:40852968C>T	ENST00000254691.5	+	3	1733	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	512					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ATGGTGTTTTCCTGATAGCGA	0.418000													13	68					0	0	1	0	0
RNASE1	6035	broad.mit.edu	37	14	21269993	21269993	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:21269993G>A	ENST00000397967.4	-	2	741	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	RNASE1_ENST00000555698.1_Silent_p.L39L|RNASE1_ENST00000412779.2_Silent_p.L79L|RNASE1_ENST00000397970.4_Silent_p.L79L|RNASE1_ENST00000340900.3_Silent_p.L79L	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	ribonuclease, RNase A family, 1 (pancreatic)	79						extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		ACATCTACCAGGGGCTCGTGC	0.542000													11	97					0	0	1	0	0
DNAJC3	5611	broad.mit.edu	37	13	96412327	96412327	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:96412327C>T	ENST00000602402.1	+	6	697	c.580C>T	c.(580-582)Cga>Tga	p.R194*	DNAJC3_ENST00000376795.6_Nonsense_Mutation_p.R143*	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	194					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ACGGGAACTTCGAGCTGAATG	0.353000													5	33					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25486968	25486968	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:25486968G>A	ENST00000453082.2	+	0	2156				SNORD115-39_ENST00000363694.1_RNA	NR_003343.1																						GGATTACGCTGAGGCCCAGCC	0.488000													26	294					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169253	138169253	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:138169253G>A	ENST00000409968.1	+	14	2948	c.2770G>A	c.(2770-2772)Gat>Aat	p.D924N	THSD7B_ENST00000413152.2_Missense_Mutation_p.D893N|THSD7B_ENST00000272643.3_Missense_Mutation_p.D924N|THSD7B_ENST00000543459.1_Intron					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)		ATGTCCTTGTGATGAATTTAT	0.453000													17	77					0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598689	151598689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:151598689C>T	ENST00000362032.4	+	3	463	c.358C>T	c.(358-360)Cga>Tga	p.R120*	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	120						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	CAGCATAGATCGATACTTGAT	0.383000													26	48					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140189034	140189034	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140189034G>A	ENST00000530339.1	+	1	2262	c.2262G>A	c.(2260-2262)agG>agA	p.R754R	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.R754R|PCDHA4_ENST00000512229.2_Silent_p.R754R	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)			CGCAGCAGAGGAGGCCGAGGG	0.657000													6	72					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940274	144940274	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:144940274G>T	ENST00000525985.1	-	2	7219	c.7148C>A	c.(7147-7149)aCc>aAc	p.T2383N				P58107	EPIPL_HUMAN	epiplakin 1	2383						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)			GAAGCCCTTGGTGTCGTCGCT	0.652000													9	511					1.58986e-06	1.60467e-06	1	1	0
FAM186B	84070	broad.mit.edu	37	12	49994286	49994286	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:49994286T>C	ENST00000544141.1	-	4	1466	c.867A>G	c.(865-867)atA>atG	p.I289M	FAM186B_ENST00000257894.2_Missense_Mutation_p.I379M|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	379						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACTGTCCCGTATCATGGCCA	0.572000													14	69					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134621	128134621	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:128134621A>T	ENST00000368250.1	-	5	1426	c.928T>A	c.(928-930)Ttt>Att	p.F310I	THEMIS_ENST00000368248.2_Missense_Mutation_p.F389I|THEMIS_ENST00000543064.1_Missense_Mutation_p.F389I|THEMIS_ENST00000537166.1_Missense_Mutation_p.F354I			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	389	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGCACCAGAAACTGGTCCCCA	0.468000													10	68					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18258227	18258227	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:18258227C>T	ENST00000286479.3	+	2	821	c.714C>T	c.(712-714)atC>atT	p.I238I	NAT2_ENST00000520116.1_Silent_p.I108I	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	238					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TGGGCTTCATCCTCACCTATA	0.383000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				5	47					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47043253	47043253	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:47043253C>T	ENST00000450053.3	+	30	4898	c.4719C>T	c.(4717-4719)ctC>ctT	p.L1573L	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.L1389L	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1573							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)		CAGCTGATCTCCGTGAGATGG	0.597000													5	69					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714602	55714602	+	Silent	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55714602C>A	ENST00000379668.2	+	1	257	c.219C>A	c.(217-219)acC>acA	p.T73T		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CGTTCACAACCGTCAGTATAC	0.383000													8	46					0.0381472	0.0382113	1	1	0
MAEL	84944	broad.mit.edu	37	1	166973433	166973433	+	Silent	SNP	G	G	A	rs142019908		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:166973433G>A	ENST00000367872.4	+	6	784	c.540G>A	c.(538-540)aaG>aaA	p.K180K	MAEL_ENST00000367870.2_Silent_p.K149K|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	180					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTAGTCACAAGATTCCTATTT	0.388000													10	72					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76471044	76471044	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:76471044G>A	ENST00000396423.2	+	8	989	c.865G>A	c.(865-867)Ggg>Agg	p.G289R	HNF4G_ENST00000354370.1_Missense_Mutation_p.G252R	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	252					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AGATGCAAAAGGGCTAAGCGA	0.383000													8	34					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121725998	121725998	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121725998G>A	ENST00000273691.3	-	2	174	c.69C>T	c.(67-69)tcC>tcT	p.S23S	ILDR1_ENST00000344209.5_Silent_p.S23S|ILDR1_ENST00000393631.1_Silent_p.S23S|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.S35S	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	23						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCACAAGCAAGGACAGGCACC	0.502000													4	49					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67125848	67125848	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:67125848G>A	ENST00000284425.2	-	7	1010	c.836C>T	c.(835-837)tCc>tTc	p.S279F		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	279					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AACGAATATGGAAATAATAAA	0.274000													5	41					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49224068	49224068	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49224068G>A	ENST00000222145.4	-	12	3083	c.2879C>T	c.(2878-2880)gCc>gTc	p.A960V		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	960					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGGAGACGTGGCCACGGGAGG	0.607000													17	174					0	0	1	0	0
GATA1	2623	broad.mit.edu	37	X	48651592	48651592	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:48651592G>A	ENST00000376670.3	+	5	869	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	GATA1_ENST00000376665.3_Missense_Mutation_p.R253Q	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	253					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GTCAGTAAACGGGCAGGTACT	0.592000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								12	9					0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	985223	985223	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:985223T>C	ENST00000361661.2	-	3	646	c.269A>G	c.(268-270)tAc>tGc	p.Y90C	SLC26A1_ENST00000398520.2_Missense_Mutation_p.Y90C|SLC26A1_ENST00000398516.2_Missense_Mutation_p.Y90C|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	90						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CAGCAATGAGTAGGCGATGGC	0.627000													23	82					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847266	47847266	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:47847266C>T	ENST00000339488.4	-	3	1347	c.1314G>A	c.(1312-1314)acG>acA	p.T438T		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	438						integral to membrane	hedgehog receptor activity										GGTAGGGGTTCGTCTCATGAT	0.448000													17	65					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217107	150217107	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150217107G>A	ENST00000313543.4	+	2	202	c.45G>A	c.(43-45)ggG>ggA	p.G15G		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	15							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTGGTAGGGAAAACTGGAA	0.498000													11	46					0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1561106	1561106	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:1561106G>A	ENST00000416733.2	-	2	232	c.35C>T	c.(34-36)cCc>cTc	p.P12L	ASMTL_ENST00000381317.3_Silent_p.A66A|ASMTL_ENST00000381333.4_Silent_p.A66A|ASMTL_ENST00000534940.1_Silent_p.A8A			O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	0	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCACCTCCAGGGCCTTCTGCT	0.562000													33	118					0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24083481	24083481	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:24083481C>T	ENST00000418390.2	+	10	2472	c.2201C>T	c.(2200-2202)gCt>gTt	p.A734V		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	734					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGCAGCCATGCTTCCGCCAGT	0.582000													20	272					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41664932	41664932	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:41664932G>A	ENST00000313860.7	+	15	2121	c.2067G>A	c.(2065-2067)tcG>tcA	p.S689S	LIMCH1_ENST00000396595.3_Silent_p.S535S|LIMCH1_ENST00000511496.1_Silent_p.S530S|LIMCH1_ENST00000514096.1_Silent_p.S530S|LIMCH1_ENST00000503057.1_Silent_p.S1074S|LIMCH1_ENST00000509277.1_Silent_p.S523S|LIMCH1_ENST00000513024.1_Silent_p.S518S|LIMCH1_ENST00000512946.1_Silent_p.S689S|LIMCH1_ENST00000512632.1_Silent_p.S689S|LIMCH1_ENST00000508501.1_Silent_p.S689S|LIMCH1_ENST00000512820.1_Silent_p.S677S|LIMCH1_ENST00000381753.4_Silent_p.S523S	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	689					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATGATGTGTCGGAAGAAAAAG	0.478000													9	38					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10568644	10568644	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:10568644C>T	ENST00000380702.2	+	9	901	c.901C>T	c.(901-903)Ccg>Tcg	p.P301S	PDE4A_ENST00000293683.5_Missense_Mutation_p.P297S|PDE4A_ENST00000440014.2_Missense_Mutation_p.P262S|PDE4A_ENST00000592685.1_Missense_Mutation_p.P301S|PDE4A_ENST00000344979.3_Missense_Mutation_p.P84S|PDE4A_ENST00000352831.6_Missense_Mutation_p.P323S			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	323					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CCAGCCGCCCCCGCCCCCTGT	0.517000													15	73					0	0	1	0	0
GNPDA2	132789	broad.mit.edu	37	4	44713037	44713037	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:44713037C>T	ENST00000509756.1	-	5	633	c.527G>A	c.(526-528)gGa>gAa	p.G176E	GNPDA2_ENST00000507917.1_Missense_Mutation_p.G142E|GNPDA2_ENST00000507534.1_Missense_Mutation_p.G106E|GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000295448.3_Missense_Mutation_p.G176E			Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	176					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TGATAAATCTCCATCAAAATA	0.388000													11	62					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10934106	10934106	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:10934106C>T	ENST00000298232.7	-	15	1184	c.817G>A	c.(817-819)Gat>Aat	p.D273N	TPTE_ENST00000342420.5_Missense_Mutation_p.D253N|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.D291N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	291	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D291Y(2)|p.D273Y(2)		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)		TGCTTAGGATCGTAAGCTCTT	0.308000													8	98					0	0	1	0	0
SYDE1	85360	broad.mit.edu	37	19	15224482	15224482	+	Missense_Mutation	SNP	G	G	A	rs139561208	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15224482G>A	ENST00000600252.1	+	5	2529	c.887G>A	c.(886-888)gGt>gAt	p.G296D	SYDE1_ENST00000342784.2_Missense_Mutation_p.G639D|SYDE1_ENST00000600440.1_Missense_Mutation_p.G572D			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	639					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CGGCCCCGCGGTCGAGGAGGC	0.687000													14	167					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111020119	111020119	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:111020119C>T	ENST00000262839.2	-	11	3262	c.2344G>A	c.(2344-2346)Gat>Aat	p.D782N		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	782					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCATTATTATCGTCTCTCTGA	0.468000													52	163					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131639117	131639117	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:131639117G>A	ENST00000368648.3	-	14	1597	c.1525C>T	c.(1525-1527)Ccc>Tcc	p.P509S	EBF3_ENST00000355311.5_Missense_Mutation_p.P518S	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	518	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CTGCCGTAGGGAGAGTTAGCG	0.507000													8	84					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169648950	169648950	+	Silent	SNP	G	G	A	rs139930955	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:169648950G>A	ENST00000366787.3	-	4	420	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	57	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAAAGCGCACGAAGCGGTAAG	0.592000													15	61					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22586275	22586275	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:22586275G>A	ENST00000357774.5	-	2	191	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L	ZNF98_ENST00000601553.1_Silent_p.L24L	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CACTCCTCCAGAGAGAATTCT	0.398000													16	95					0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44120386	44120386	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:44120386C>T	ENST00000259746.9	+	20	2076	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	TMEM63B_ENST00000323267.6_Silent_p.F631F			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	631						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TGTGCGTCTTCACGGTGGTCA	0.662000											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	62					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091661	9091661	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9091661C>T	ENST00000397910.4	-	1	357	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	52	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						AGAGTATGTTCTGTCACCACG	0.522000													12	44					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956442	128956442	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:128956442G>A	ENST00000274487.4	+	9	1737	c.1592G>A	c.(1591-1593)aGa>aAa	p.R531K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	531	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GATTTGGAAAGATTTCTCAGG	0.398000													16	149					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195501177	195501177	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:195501177C>T	ENST00000463781.3	-	4	13403		c.e4-1		MUC4_ENST00000349607.4_Splice_Site|MUC4_ENST00000346145.4_Splice_Site|MUC4_ENST00000475231.1_Splice_Site	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated						cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGGAAACTCCTGGGCCAGGA	0.632000													14	43					0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7950179	7950179	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:7950179C>T	ENST00000309838.2	-	1	30	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGATGAATTCAACCACACAG	0.408000													11	60					0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110098156	110098156	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:110098156C>T	ENST00000230124.3	+	16	1906	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F	FIG4_ENST00000441478.2_Silent_p.F317F	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	594					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TTAATCTCTTCCTGGGAGTTT	0.353000													6	36					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117182136	117182136	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:117182136G>A	ENST00000003084.6	+	9	1315	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	CFTR_ENST00000454343.1_Missense_Mutation_p.E395K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	395					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGTAGTGATGGAGAATGTAAC	0.308000									Cystic Fibrosis				11	25					0	0	1	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528252	77528252	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:77528252C>T	ENST00000373304.3	-	3	1284	c.992G>A	c.(991-993)gGa>gAa	p.G331E		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	331					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	p.G331E(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TATTTCTTCTCCTTTTTCTGG	0.348000													11	21					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535205	71535205	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:71535205G>A	ENST00000355327.3	+	5	816	c.682G>A	c.(682-684)Gac>Aac	p.D228N	THSD4_ENST00000261862.6_Missense_Mutation_p.D228N			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	228	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTACCAAAGTGACAGTGGCCC	0.582000													8	65					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111215820	111215820	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:111215820T>C	ENST00000369769.2	-	1	1835	c.1612A>G	c.(1612-1614)Aac>Gac	p.N538D		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	538						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGCTATGGTTCATACCCCCC	0.502000													18	75					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74637392	74637392	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:74637392G>A	ENST00000358632.4	-	3	839	c.144C>T	c.(142-144)gcC>gcT	p.A48A	CYP11A1_ENST00000268053.6_Silent_p.A206A|CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000419019.2_Silent_p.A48A	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	206					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TACACTCAAAGGCAAAGCGGA	0.577000													3	48					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480745	57480745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:57480745G>A	ENST00000371236.2	-	12	1518	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*	DAB1_ENST00000371234.4_Nonsense_Mutation_p.Q419*|DAB1_ENST00000420954.2_Nonsense_Mutation_p.Q417*|DAB1_ENST00000371231.1_Nonsense_Mutation_p.Q452*|DAB1_ENST00000414851.2_Nonsense_Mutation_p.Q401*|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Nonsense_Mutation_p.Q333*			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	452					cell differentiation|nervous system development			p.Q419K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGGGCCATCTGGAAATCCTTA	0.597000													14	66					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963820	88963820	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:88963820G>A	ENST00000333190.4	+	4	2133	c.1524G>A	c.(1522-1524)ttG>ttA	p.L508L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	508						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCTTGGAATTGAAGACTAAAA	0.378000										HNSCC(36;0.09)			7	65					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34055265	34055265	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:34055265C>T	ENST00000397527.1	+	9	1456	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	CEP250_ENST00000397524.1_Silent_p.L246L|CEP250_ENST00000342580.4_Silent_p.L246L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	246	Poly-Leu.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCCGGCCCAGCTGCTGCTGCT	0.572000													14	113					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085435	9085435	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9085435G>A	ENST00000397910.4	-	1	6583	c.6380C>T	c.(6379-6381)tCg>tTg	p.S2127L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2127	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						ACCTGTGACCGAGGATGCATC	0.493000													7	131					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152466683	152466683	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:152466683C>T	ENST00000448038.1	-	138	25372	c.24771G>A	c.(24769-24771)atG>atA	p.M8257I	SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.M8257I|SYNE1_ENST00000354674.4_Missense_Mutation_p.M483I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000356820.4_Intron|SYNE1_ENST00000539504.1_Intron|SYNE1_ENST00000367255.5_Intron			Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8324					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCGGGGATCATTACATCTG	0.468000										HNSCC(10;0.0054)			13	60					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	429765	429765	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:429765C>T	ENST00000432829.2	+	36	4649	c.4333C>T	c.(4333-4335)Cac>Tac	p.H1445Y	DOCK8_ENST00000469391.1_Missense_Mutation_p.H1413Y|DOCK8_ENST00000453981.1_Missense_Mutation_p.H1513Y|DOCK8_ENST00000382329.1_Missense_Mutation_p.H980Y	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1513	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCAAGTCCTGCACCACTGCAG	0.512000													6	41					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24445675	24445675	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:24445675C>T	ENST00000398319.2	+	7	1034	c.649C>T	c.(649-651)Ctc>Ttc	p.L217F	CABIN1_ENST00000263119.5_Missense_Mutation_p.L217F|CABIN1_ENST00000405822.2_Missense_Mutation_p.L217F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	217					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGAATGTTCCTCAAATGGTA	0.532000													4	65					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055847	167055847	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:167055847C>T	ENST00000303354.6	-	27	5645	c.5305G>A	c.(5305-5307)Gaa>Aaa	p.E1769K	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.E1757K|SCN9A_ENST00000409435.1_Missense_Mutation_p.E1768K|SCN9A_ENST00000375387.4_Missense_Mutation_p.E1769K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1768						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GTACTTTCTTCAGTGGCAACA	0.393000													11	114					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31856801	31856801	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31856801G>A	ENST00000395728.3	-	9	1331	c.1332C>T	c.(1330-1332)gtC>gtT	p.V444V	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.V387V|EHMT2_ENST00000375530.4_Intron|EHMT2_ENST00000375528.4_Intron			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	387					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						ACCCCAGAGGGACCTCCATGT	0.637000													5	18					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55889999	55889999	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55889999C>T	ENST00000313472.3	+	1	151	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATTGATAATCCGCCTGGACCT	0.438000													23	190					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98493390	98493390	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:98493390C>T	ENST00000359863.4	+	7	663	c.454C>T	c.(454-456)Cat>Tat	p.H152Y	TRRAP_ENST00000446306.3_Missense_Mutation_p.H152Y|TRRAP_ENST00000355540.3_Missense_Mutation_p.H152Y	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	152					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTTTTAGATTCATCATTTTCT	0.279000													3	9					0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11505081	11505081	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:11505081G>A	ENST00000379237.1	-	15	2240	c.1846C>T	c.(1846-1848)Ccg>Tcg	p.P616S	USP6NL_ENST00000277575.5_Missense_Mutation_p.P633S	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	616						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AGCTGGGACGGATATCGTGCA	0.527000													7	40					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137304579	137304579	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:137304579C>T	ENST00000453654.1	-	8	623	c.84G>A	c.(82-84)aaG>aaA	p.K28K	DGKI_ENST00000288490.5_Silent_p.K328K|DGKI_ENST00000424189.2_Silent_p.K328K|DGKI_ENST00000446122.1_Silent_p.K328K			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	328	Poly-Ala.				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						CCTGAGGTTTCTTCACCTTAA	0.517000													27	85					0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51007791	51007791	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:51007791G>A	ENST00000360719.2	-	19	2432	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	CPT1B_ENST00000440709.1_Silent_p.F684F|CPT1B_ENST00000457250.1_Silent_p.F731F|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.F560F|CPT1B_ENST00000395650.2_Silent_p.F765F|CPT1B_ENST00000405237.3_Silent_p.F765F|CPT1B_ENST00000312108.7_Silent_p.F765F	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	765					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TGGGAACTTGGAAAAGATCAG	0.547000													7	113					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52428491	52428491	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:52428491G>A	ENST00000420323.2	+	67	10898	c.10637G>A	c.(10636-10638)cGa>cAa	p.R3546Q		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3611					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGTGAGTGGCGATACCTCCTG	0.632000													5	16					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72324144	72324144	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:72324144G>A	ENST00000263563.6	+	19	2555	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		AGAGGCGCAAGAAATGCGGAG	0.617000													9	78					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745253	140745253	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140745253C>T	ENST00000518069.1	+	1	1356	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCAATTTCCCTCAAGCCT	0.522000													13	130					0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147120155	147120155	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:147120155C>T	ENST00000369238.5	-	9	1483	c.1036G>A	c.(1036-1038)Ggg>Agg	p.G346R	ACP6_ENST00000460583.1_5'UTR	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	346					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TCAAAAATCCCCAGGGTCATT	0.483000													4	82					0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47558817	47558817	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:47558817C>T	ENST00000397748.1	-	11	1324	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397746.3_Silent_p.K427K|FTCD_ENST00000397743.1_Intron|FTCD_ENST00000355384.2_Intron|FTCD_ENST00000291670.5_Silent_p.K427K|FTCD_ENST00000359679.2_Silent_p.K427K			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	427	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CAGGTGTGTTCTTGGGGAGCC	0.632000													7	74					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049971	9049971	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9049971G>A	ENST00000397910.4	-	5	31863	c.31660C>T	c.(31660-31662)Ccc>Tcc	p.P10554S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10556	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						GTTGTCCTGGGAAGAGCTGTG	0.488000													44	172					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49448514	49448514	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:49448514C>T	ENST00000374201.3	-	6	891	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	FRMPD2_ENST00000407470.4_Missense_Mutation_p.E166K|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E173K	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	197	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GAGGAGCTTTCCTCCACAACT	0.557000													4	37					0	0	1	0	0
EFNA5	1946	broad.mit.edu	37	5	106762982	106762982	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:106762982G>A	ENST00000333274.6	-	2	635	c.354C>T	c.(352-354)ttC>ttT	p.F118F	EFNA5_ENST00000509503.1_Silent_p.F118F	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	118					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		TGAAGAGCTGGAATTTTTCAG	0.463000													5	68					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43783022	43783022	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:43783022C>T	ENST00000372476.3	+	15	2641	c.2562C>T	c.(2560-2562)atC>atT	p.I854I	TIE1_ENST00000433781.2_Silent_p.I499I|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	854	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCAGGTCATCCGGGCCATGA	0.602000													7	114					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117561029	117561029	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:117561029C>T	ENST00000256652.4	+	6	1922	c.1864C>T	c.(1864-1866)Cgt>Tgt	p.R622C	CD101_ENST00000369470.1_Missense_Mutation_p.R622C	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	622	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTCTTTATTTCGTTCACAACT	0.448000													35	96					0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2953287	2953287	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:2953287T>C	ENST00000380520.1	-	4	2558	c.564A>G	c.(562-564)aaA>aaG	p.K188K	SERPINB6_ENST00000380546.3_Silent_p.K188K|SERPINB6_ENST00000380539.1_Silent_p.K188K|SERPINB6_ENST00000380524.1_Silent_p.K188K|SERPINB6_ENST00000380529.1_Silent_p.K188K|SERPINB6_ENST00000335686.5_Silent_p.K188K			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	188					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CCTTGCTGACTTTAAACAGTC	0.567000											OREG0017145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	246					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	33684578	33684578	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:33684578G>A	ENST00000346562.2	+	2	315	c.241G>A	c.(241-243)Gac>Aac	p.D81N	NPAS3_ENST00000548645.1_Missense_Mutation_p.D81N|NPAS3_ENST00000356141.4_Missense_Mutation_p.D111N|NPAS3_ENST00000551492.1_Missense_Mutation_p.D118N|NPAS3_ENST00000357798.5_Missense_Mutation_p.D81N|NPAS3_ENST00000547068.1_Missense_Mutation_p.D9N|NPAS3_ENST00000551008.1_Missense_Mutation_p.D9N|NPAS3_ENST00000341321.4_Missense_Mutation_p.D111N	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	111	Helix-loop-helix motif.			PLP -> LS (in Ref. 4; CAB45154).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TAACCAGGGGGACCCTCCGTG	0.483000													11	51					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117228572	117228572	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:117228572G>A	ENST00000362057.3	-	3	1106	c.938C>T	c.(937-939)tCt>tTt	p.S313F	DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	313	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCTGCTTCAGAGCCTGGGTC	0.602000													11	68					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67293376	67293376	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:67293376A>G	ENST00000392676.3	-	10	1456	c.1392T>C	c.(1390-1392)atT>atC	p.I464I	ABCA5_ENST00000392677.2_Silent_p.I464I|ABCA5_ENST00000588877.1_Silent_p.I464I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	464					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTGGCTCAATAATTTCACTAA	0.313000													6	47					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020545	56020545	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56020545G>A	ENST00000303059.3	+	1	870	c.870G>A	c.(868-870)atG>atA	p.M290I		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M290I(1)		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)					TCAGTTATATGAGACCAAGTT	0.403000													12	69					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132939660	132939660	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:132939660G>A	ENST00000265342.7	-	2	264	c.15C>T	c.(13-15)ggC>ggT	p.G5G		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	5						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGCCAAAAGCCTCCTGGTT	0.498000													6	41					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43237141	43237141	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43237141G>A	ENST00000327495.5	-	3	688	c.504C>T	c.(502-504)acC>acT	p.T168T	PSG3_ENST00000595140.1_Silent_p.T168T	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	168	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CAGGATCACAGGTTAAGCTCA	0.527000													43	254					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90816646	90816646	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:90816646G>A	ENST00000394980.1	+	2	843	c.524G>A	c.(523-525)gGa>gAa	p.G175E	MMRN1_ENST00000264790.2_Missense_Mutation_p.G175E|MMRN1_ENST00000394981.1_Missense_Mutation_p.G141E			Q13201	MMRN1_HUMAN	multimerin 1	175					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ggaggcGTGGGAAATCGAGCC	0.498000													5	39					0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99489852	99489852	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99489852G>A	ENST00000355947.2	-	7	1566	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	TRIM4_ENST00000349062.2_Silent_p.L453L	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	479	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AAAATGGCCGGAGGCGTGAGA	0.502000													30	77					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475892	32475892	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:32475892G>A	ENST00000404025.2	-	5	1529	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	NLRC4_ENST00000360906.5_Silent_p.I347I|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.I347I			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	347	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CACCCATCTGGATTGCACAAG	0.433000													4	26					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606700	55606700	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55606700C>T	ENST00000378396.1	+	1	473	c.473C>T	c.(472-474)tCc>tTc	p.S158F		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S158F(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GTCGCATGTTCCCTGACACTC	0.448000													4	51					0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35943078	35943078	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:35943078C>T	ENST00000216127.4	+	2	864	c.222C>T	c.(220-222)acC>acT	p.T74T		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	74					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						TCCTGGATACCTCTGGCAACC	0.632000													5	62					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117043303	117043303	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:117043303G>A	ENST00000371876.1	-	4	3595	c.1174C>T	c.(1174-1176)Ctg>Ttg	p.L392L	KLHL13_ENST00000539496.1_Silent_p.L446L|KLHL13_ENST00000371882.1_Silent_p.L392L|KLHL13_ENST00000545703.1_Silent_p.L401L|KLHL13_ENST00000371878.1_Silent_p.L392L|KLHL13_ENST00000541812.1_Silent_p.L427L|KLHL13_ENST00000262820.3_Silent_p.L443L|KLHL13_ENST00000540167.1_Silent_p.L427L|KLHL13_ENST00000469946.1_Silent_p.L392L			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	443					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACTGCATACAGATATCCTTTG	0.388000													7	24					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819752	110819752	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:110819752C>T	ENST00000282356.4	+	11	1408	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.S337L	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	337	Calmodulin-binding (Potential).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GTGGCCTCTTCGCGCCTGGGA	0.557000													4	40					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105279178	105279178	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:105279178T>A	ENST00000327674.4	-	2	1156	c.821A>T	c.(820-822)gAg>gTg	p.E274V	SERPINA7_ENST00000372563.1_Missense_Mutation_p.E274V|SERPINA7_ENST00000487487.1_5'UTR			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	274					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CATCTGTCCCTCCTTGGGAAG	0.458000													38	99					0	0	1	0	0
VPS53	55275	broad.mit.edu	37	17	534807	534807	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:534807G>A	ENST00000437048.2	-	8	816	c.670C>T	c.(670-672)Cct>Tct	p.P224S	VPS53_ENST00000291074.5_Missense_Mutation_p.P195S|VPS53_ENST00000446250.2_Missense_Mutation_p.P26S|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.P224S|VPS53_ENST00000576149.1_5'UTR	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	224					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		CCCTGGGAAGGAAACGCTTCT	0.498000													10	51					0	0	1	0	0
TMEM31	203562	broad.mit.edu	37	X	102967189	102967189	+	Translation_Start_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:102967189G>A	ENST00000319560.6	+	2	194	c.3G>A	c.(1-3)atG>atA	p.M1I	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	1						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TAGAAGAAATGAGGTTAACAG	0.418000													8	15					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76370810	76370810	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:76370810G>A	ENST00000407242.2	-	3	2069	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	LRRC32_ENST00000260061.5_Silent_p.S609S|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.S609S|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	609	LRRCT.					integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CGTGGCTCAGGGACACCTCCT	0.617000													4	73					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38951679	38951679	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:38951679C>T	ENST00000302328.3	-	8	1177	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	SCN11A_ENST00000444237.2_Missense_Mutation_p.E327K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E327K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E327K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	327					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGCTTACATTCATATTGTATG	0.383000													4	49					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161143531	161143531	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:161143531G>A	ENST00000308192.9	+	10	1251	c.1188G>A	c.(1186-1188)aaG>aaA	p.K396K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	396	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCACAGGAAAGAAGTGTCAGT	0.507000													18	81					0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86180999	86180999	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:86180999G>A	ENST00000257770.3	+	3	656	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	NT5E_ENST00000369646.3_Missense_Mutation_p.E203K|NT5E_ENST00000369651.3_Missense_Mutation_p.E203K	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	203					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	ATTACAACCTGAAGTAGATAA	0.299000													4	29					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101578623	101578623	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:101578623T>A	ENST00000370449.4	+	18	2461	c.2348T>A	c.(2347-2349)cTt>cAt	p.L783H		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	783	ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GACATCTATCTTCTAGATGAC	0.428000													14	54					0	0	1	0	0
CDA	978	broad.mit.edu	37	1	20915757	20915757	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:20915757G>T	ENST00000375071.3	+	1	317	c.135G>T	c.(133-135)caG>caT	p.Q45H	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	45					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	TGCTCACCCAGGAGGGGAGAA	0.612000													6	49					0.000157383	0.000158346	1	1	0
TRAV3	28690	broad.mit.edu	37	14	22192065	22192065	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22192065G>A	ENST00000390425.2	+	0	106																											CTGGGGTGGGGCCATATCTCC	0.622000													15	57					0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127785858	127785858	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:127785858C>T	ENST00000243253.3	+	9	1023	c.839C>T	c.(838-840)cCc>cTc	p.P280L	SEC61A1_ENST00000464451.1_Missense_Mutation_p.P286L|SEC61A1_ENST00000424880.2_Missense_Mutation_p.P160L|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000483956.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	280					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						AACACCTATCCCATCAAGCTC	0.537000													7	85					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148966	103148966	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:103148966G>A	ENST00000295269.4	+	12	2673	c.2216G>A	c.(2215-2217)gGa>gAa	p.G739E		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	739					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						TACTTGGGTGGAGTAAGGAGG	0.493000													4	30					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717485	13717485	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:13717485G>A	ENST00000279593.3	-	13	2896	c.2687C>T	c.(2686-2688)tCc>tTc	p.S896F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	896					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAGGATGTTGGAGTGTGTGTT	0.577000													34	140					0	0	1	0	0
ELOVL2	54898	broad.mit.edu	37	6	10995349	10995349	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:10995349G>A	ENST00000354666.3	-	5	479	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	132					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GCAAAACGAAGAAAATTGTGT	0.378000													5	125					0	0	1	0	0
PINK1	65018	broad.mit.edu	37	1	20964372	20964372	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:20964372C>T	ENST00000321556.4	+	2	519	c.425C>T	c.(424-426)cCg>cTg	p.P142L		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	142					cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGCCTGACCCGTTGGACACG	0.547000													11	81					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048936	143048936	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143048936G>A	ENST00000343257.2	+	23	2932	c.2845G>A	c.(2845-2847)Ggc>Agc	p.G949S		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	949					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CAAGGTAGAGGGCGAGTTGGA	0.652000													6	77					0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44166325	44166325	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:44166325C>T	ENST00000417257.1	-	14	1647	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	FRMD5_ENST00000402883.1_Missense_Mutation_p.E491K|FRMD5_ENST00000484674.1_Missense_Mutation_p.E397K	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	491						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.E491K(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ACCTGTTCCTCCTCGGGCCCG	0.567000													9	70					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869659	4869659	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4869659G>A	ENST00000322101.2	-	1	855	c.780C>T	c.(778-780)atC>atT	p.I260I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATCATAGGGATATAGAAGA	0.502000													14	73					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142476601	142476601	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:142476601C>T	ENST00000430863.1	-	0	2465					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GGGTCTTTTCCTTGGCTTGCG	0.647000													7	28					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128341887	128341887	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:128341887G>A	ENST00000389524.4	+	13	1587	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	MYO7B_ENST00000428314.1_Missense_Mutation_p.E512K|MYO7B_ENST00000409816.2_Missense_Mutation_p.E512K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	512	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTCCTGGACGAAGAAAGCCG	0.602000													3	33					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142565411	142565411	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142565411C>T	ENST00000392957.2	+	12	2583	c.1796C>T	c.(1795-1797)tCc>tTc	p.S599F	EPHB6_ENST00000442129.1_Missense_Mutation_p.S599F|EPHB6_ENST00000411471.2_Missense_Mutation_p.S322F	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	599						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGATCGGCTCCATCCTGGGG	0.652000													5	21					0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69420299	69420299	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:69420299G>A	ENST00000333026.3	+	4	562	c.462G>A	c.(460-462)gtG>gtA	p.V154V		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	154					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GAGAATATGTGATGTCAATGG	0.413000													4	35					0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22985965	22985965	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:22985965C>T	ENST00000509305.1	+	2	356	c.10C>T	c.(10-12)Cca>Tca	p.P4S	C1QB_ENST00000314933.6_Missense_Mutation_p.P6S			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	6					complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GATGAAGATCCCATGGGGCAG	0.562000													4	73					0	0	1	0	0
CD3EAP	10849	broad.mit.edu	37	19	45912178	45912178	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:45912178C>T	ENST00000309424.3	+	3	1440	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	CD3EAP_ENST00000589804.1_Silent_p.L320L|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	318					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GGTGGAGCCACTGGAGGAAGC	0.572000													18	103					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275210	29275210	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29275210C>T	ENST00000377160.2	+	1	808	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TAGCCACCTTCTTTCTTTCAG	0.488000													6	177					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354552	45354552	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:45354552C>T	ENST00000359271.2	+	2	1127	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	293						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GCTGGTGGACCGTGCAGGCCG	0.657000													21	115					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131487334	131487334	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:131487334C>T	ENST00000376682.4	+	1	291	c.36C>T	c.(34-36)tcC>tcT	p.S12S	GPR133_ENST00000535015.1_Intron|GPR133_ENST00000261654.5_Intron			Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGTCCCCATCCCAGAGTGGAC	0.637000													4	24					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444027	20444027	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20444027C>T	ENST00000305051.5	+	1	425	c.350C>T	c.(349-351)tCt>tTt	p.S117F		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	117			S -> A (in dbSNP:rs3861513).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGACTATTTCTTTTGATGCC	0.428000													22	119					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43924792	43924792	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:43924792C>T	ENST00000262726.7	-	32	4700	c.4447G>A	c.(4447-4449)Gat>Aat	p.D1483N	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.D1331N|EFCAB6-AS1_ENST00000431327.2_RNA	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1483	EF-hand 17.|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)				AGCGTCTTATCGTAATACTCC	0.522000													11	78					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809256	31809256	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:31809256G>A	ENST00000446923.2	+	7	1336	c.945G>A	c.(943-945)aaG>aaA	p.K315K	ZEB1_ENST00000361642.5_Silent_p.K332K|ZEB1_ENST00000320985.10_Silent_p.K331K|ZEB1_ENST00000560721.2_Silent_p.K311K|ZEB1_ENST00000542815.3_Silent_p.K264K|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	331					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TACGGCAAAAGATAGAGAATA	0.433000													5	46					0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75425885	75425885	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:75425885G>A	ENST00000305249.4	-	1	941	c.176C>T	c.(175-177)gCc>gTc	p.A59V	TACR1_ENST00000409848.3_Missense_Mutation_p.A59V	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	59					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TCTTTTGTGGGCTAAGATGAT	0.517000													4	23					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612073	189612073	+	Missense_Mutation	SNP	G	G	A	rs142762485		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:189612073G>A	ENST00000264731.3	+	14	1914	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	TP63_ENST00000440651.2_Missense_Mutation_p.E605K|TP63_ENST00000354600.5_Missense_Mutation_p.E515K|TP63_ENST00000456148.1_Missense_Mutation_p.E511K|TP63_ENST00000449992.1_Missense_Mutation_p.E430K|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000382063.4_Missense_Mutation_p.E524K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	609					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E609K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCAGCTCCACGAATTCTCCTC	0.567000										HNSCC(45;0.13)			12	85					0	0	1	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84567050	84567050	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:84567050C>T	ENST00000369689.1	+	4	480	c.329C>T	c.(328-330)tCa>tTa	p.S110L	RIPPLY2_ENST00000369687.1_Missense_Mutation_p.S52L	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	110	Ripply homology domain.				somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						GCCACAATTTCATTTTATGAA	0.323000													6	48					0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102592434	102592434	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:102592434G>A	ENST00000236826.3	-	3	505	c.407C>T	c.(406-408)gCc>gTc	p.A136V		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	136					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		GAGTTCAAAGGCATCCTTGAT	0.418000													7	28					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579085	44579085	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:44579085C>T	ENST00000289547.4	-	2	966	c.911G>A	c.(910-912)gGa>gAa	p.G304E	NPC1L1_ENST00000546276.1_Missense_Mutation_p.G304E|NPC1L1_ENST00000423141.1_Missense_Mutation_p.G304E|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G304E	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	304					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)	CACACGGAATCCCACAAGCAG	0.602000													5	109					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292576	6292576	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6292576G>A	ENST00000525462.1	+	4	1357	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T	CCKBR_ENST00000334619.2_Missense_Mutation_p.A383T|CCKBR_ENST00000532715.1_Missense_Mutation_p.A299T			P32239	GASR_HUMAN	cholecystokinin B receptor	383					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CTACGCCTCGGCCTGTGTCAA	0.627000													9	120					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597016	179597016	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179597016G>A	ENST00000589042.1	-	57	16904	c.16680C>T	c.(16678-16680)gcC>gcT	p.A5560A	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.A5243A|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.A4316A|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5243	Ig-like 36.						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)			CTAGCTGGGTGGCATCTCCCT	0.408000													11	99					0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33342786	33342786	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:33342786C>T	ENST00000379540.3	+	13	2220	c.2158C>T	c.(2158-2160)Cgt>Tgt	p.R720C	NFX1_ENST00000379521.4_Missense_Mutation_p.R720C|NFX1_ENST00000318524.6_Missense_Mutation_p.R720C	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	720					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GAGGAAACTCCGTTGTGGCCT	0.393000													8	15					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104927753	104927753	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:104927753C>T	ENST00000507740.1	+	5	1503	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	RIMS2_ENST00000436393.2_Missense_Mutation_p.R393W|RIMS2_ENST00000406091.3_Missense_Mutation_p.R615W|RIMS2_ENST00000262231.10_Missense_Mutation_p.R470W	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	693					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGAATCAGGTCGGCTTTGTGC	0.333000										HNSCC(12;0.0054)			10	35					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563774	55563774	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55563774C>G	ENST00000335605.1	+	1	743	c.743C>G	c.(742-744)aCt>aGt	p.T248S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TCCCACCTGACTTCTATCACC	0.453000													7	48					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107399033	107399033	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:107399033C>T	ENST00000440859.2	+	6	1353	c.886C>T	c.(886-888)Cct>Tct	p.P296S	CBLL1_ENST00000222597.2_Missense_Mutation_p.P295S	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	296	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AATAACCGTCCCTATTCAGGA	0.488000													10	65					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457547	45457547	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:45457547G>A	ENST00000548424.1	+	0	448																											CAGGGGCAAGGAAGGCAGGCG	0.498000													7	20					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996298	140996298	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140996298C>T	ENST00000285879.4	+	4	3394	c.3108C>T	c.(3106-3108)gcC>gcT	p.A1036A	MAGEC1_ENST00000406005.2_Silent_p.A103A	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1036	MAGE.						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)					AGCACTTTGCCTTTGGGGAGC	0.537000										HNSCC(15;0.026)			10	80					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250854	140250854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140250854G>A	ENST00000398640.2	+	1	2166	c.2166G>A	c.(2164-2166)tgG>tgA	p.W722*	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGTGGTGGTCGGCAACGC	0.667000													12	62					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57966424	57966424	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:57966424G>A	ENST00000455537.2	+	15	1905	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q	KIF5A_ENST00000286452.5_Missense_Mutation_p.R455Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	544					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGACACCAGCGAAAACGAATT	0.567000													7	69					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459985	107459985	+	Missense_Mutation	SNP	A	A	C	rs141100958		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:107459985A>C	ENST00000409382.3	-	2	1059	c.449T>G	c.(448-450)tTc>tGc	p.F150C	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.F150C|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.F150C	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	150					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGGGGAAGGGAATCCCAATGT	0.612000													32	189					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133948072	133948072	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:133948072C>T	ENST00000361069.4	+	19	3400	c.3267C>T	c.(3265-3267)gcC>gcT	p.A1089A	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1089	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTGTCAAGGCCGCCCGGGAGC	0.652000													4	17					0	0	1	0	0
USP16	10600	broad.mit.edu	37	21	30409701	30409701	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:30409701C>T	ENST00000334352.4	+	7	784	c.553C>T	c.(553-555)Cct>Tct	p.P185S	USP16_ENST00000399976.2_Missense_Mutation_p.P185S|USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Missense_Mutation_p.P184S	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	185					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						TAAAGAGAATCCTCCCATGAA	0.328000													5	43					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34192778	34192778	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:34192778G>A	ENST00000297161.2	+	16	2325	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	BMPER_ENST00000426693.1_Missense_Mutation_p.E651K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	651	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAACTGGAATGAAATTGGTCC	0.517000													12	118					0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189272	11189272	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:11189272C>T	ENST00000382435.4	+	1	876	c.657C>T	c.(655-657)ctC>ctT	p.L219L		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	219						integral to membrane											CCTCCTGCCTCCCAACAGTGG	0.617000													8	102					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117243663	117243663	+	Missense_Mutation	SNP	C	C	T	rs121909034	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:117243663C>T	ENST00000003084.6	+	17	2867	c.2735C>T	c.(2734-2736)tCg>tTg	p.S912L	CFTR_ENST00000454343.1_Missense_Mutation_p.S851L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	912	ABC transmembrane type-1 2.		S -> L.		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGCACCAGTTCGTATTATGTG	0.418000									Cystic Fibrosis				7	71					0	0	1	0	0
GLB1L	79411	broad.mit.edu	37	2	220107569	220107569	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:220107569G>A	ENST00000295759.7	-	4	624	c.311C>T	c.(310-312)gCc>gTc	p.A104V	GLB1L_ENST00000392089.2_Missense_Mutation_p.A104V|GLB1L_ENST00000409640.1_Missense_Mutation_p.A104V|GLB1L_ENST00000356283.3_Missense_Mutation_p.A104V			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	104					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTCAGAAAGGCAATGAGGTC	0.507000													6	89					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78794543	78794543	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:78794543C>T	ENST00000545128.1	+	15	2470	c.1932C>T	c.(1930-1932)ggC>ggT	p.G644G	PCSK5_ENST00000376752.4_Silent_p.G644G	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	644	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTGAGGTTGGCTGTGACGGGC	0.463000													5	47					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391252	139391252	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:139391252C>T	ENST00000277541.6	-	34	7014	c.6939G>A	c.(6937-6939)cgG>cgA	p.R2313R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2313					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGCTCTGCAGCCGGGACAGCC	0.657000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			13	53					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82436122	82436122	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:82436122G>A	ENST00000370728.1	+	18	3491	c.2846G>A	c.(2845-2847)aGg>aAg	p.R949K	LPHN2_ENST00000370727.1_Missense_Mutation_p.R949K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.R936K|LPHN2_ENST00000271029.4_Missense_Mutation_p.R949K|LPHN2_ENST00000394879.1_Missense_Mutation_p.R936K|LPHN2_ENST00000370730.1_Missense_Mutation_p.R949K|LPHN2_ENST00000319517.6_Missense_Mutation_p.R936K|LPHN2_ENST00000370717.2_Missense_Mutation_p.R949K|LPHN2_ENST00000370725.1_Missense_Mutation_p.R949K|LPHN2_ENST00000335786.5_Missense_Mutation_p.R949K|LPHN2_ENST00000359929.3_Missense_Mutation_p.R936K|LPHN2_ENST00000370721.1_Missense_Mutation_p.R874K|LPHN2_ENST00000370723.1_Missense_Mutation_p.R936K|LPHN2_ENST00000370715.1_Missense_Mutation_p.R936K			O95490	LPHN2_HUMAN	latrophilin 2	949					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)		GAATATTCAAGGAAAAAATAT	0.378000													15	67					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923615	24923615	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:24923615C>T	ENST00000329468.2	+	1	3075	c.2601C>T	c.(2599-2601)gcC>gcT	p.A867A		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACAGCATTGCCTCAGCCCAAG	0.488000													10	74					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72107824	72107824	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:72107824G>A	ENST00000540303.2	+	2	71	c.39G>A	c.(37-39)tgG>tgA	p.W13*	HPR_ENST00000228226.8_Nonsense_Mutation_p.W50*|HPR_ENST00000356967.5_Nonsense_Mutation_p.W13*|HPR_ENST00000561690.1_Nonsense_Mutation_p.W13*	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	13					proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TCCTGCTCTGGGGACGACAGC	0.522000													11	115					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209309566	209309566	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:209309566C>T	ENST00000272847.2	+	7	1020	c.807C>T	c.(805-807)ttC>ttT	p.F269F	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	269						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTGTGGCTTTCTTTTCGGACA	0.403000													26	118					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201035008	201035008	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:201035008G>A	ENST00000362061.3	-	22	3037	c.2811C>T	c.(2809-2811)ctC>ctT	p.L937L	CACNA1S_ENST00000367338.3_Silent_p.L937L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	937					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGAACTGTAGGAGGGTAGTGA	0.647000													5	27					0	0	1	0	0
INPP1	3628	broad.mit.edu	37	2	191231568	191231568	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:191231568C>T	ENST00000392329.2	+	5	1113	c.413C>T	c.(412-414)tCc>tTc	p.S138F	INPP1_ENST00000322522.4_Missense_Mutation_p.S138F|INPP1_ENST00000541441.1_Missense_Mutation_p.S138F	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	138					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	ACTCTGGATTCCACAGAGATC	0.418000													9	80					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46307470	46307470	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:46307470C>T	ENST00000359930.4	-	8	1994	c.1143G>A	c.(1141-1143)atG>atA	p.M381I	SULF2_ENST00000361612.4_Missense_Mutation_p.M381I|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000467815.1_Missense_Mutation_p.M381I|SULF2_ENST00000484875.1_Missense_Mutation_p.M381I	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	381					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ATTTCCCGTCCATATCCGCAG	0.627000													23	171					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2542621	2542621	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:2542621G>T	ENST00000358864.1	+	4	534	c.519G>T	c.(517-519)aaG>aaT	p.K173N		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	173	Arg/Asp/Glu/Lys-rich (highly charged).					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						TGCGGAGCAAGCCCTGGCCCA	0.607000													5	53					0.000602214	0.000605005	1	1	0
PPFIA2	8499	broad.mit.edu	37	12	81657112	81657112	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:81657112C>T	ENST00000550584.2	-	30	3908	c.3613G>A	c.(3613-3615)Gaa>Aaa	p.E1205K	PPFIA2_ENST00000552948.1_Missense_Mutation_p.E1184K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E1190K|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E391K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E741K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E1205K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E1193K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E1104K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E1100K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E1052K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E1199K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1104										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCATGTACTTCACGAGGAGGA	0.438000													3	25					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51512899	51512899	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:51512899G>A	ENST00000371117.3	-	63	11603	c.11328C>T	c.(11326-11328)tcC>tcT	p.S3776S		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3776					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.S3776S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGGTCCCAGGGACTCTACTC	0.413000													4	68					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55725924	55725924	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:55725924C>T	ENST00000379906.2	+	5	1133	c.878C>T	c.(877-879)gCc>gTc	p.A293V	SLC6A2_ENST00000414754.3_Missense_Mutation_p.A293V|SLC6A2_ENST00000568943.1_Missense_Mutation_p.A293V|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A293V|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A293V|SLC6A2_ENST00000567238.1_Missense_Mutation_p.A188V|SLC6A2_ENST00000566163.1_Intron	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	293					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGCATCAATGCCTACCTGCAC	0.597000													6	58					0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14706183	14706183	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:14706183C>T	ENST00000240617.5	-	2	931	c.279G>A	c.(277-279)ctG>ctA	p.L93L		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	93					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TCTCATTGCTCAGGGTTTGAG	0.522000													4	21					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612204	189612204	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:189612204C>T	ENST00000264731.3	+	14	2045	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	TP63_ENST00000440651.2_Silent_p.F648F|TP63_ENST00000354600.5_Silent_p.F558F|TP63_ENST00000456148.1_Silent_p.F554F|TP63_ENST00000449992.1_Silent_p.F473F|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000382063.4_Silent_p.F567F	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	652	Transactivation inhibition.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCATCTCTTTCCCACCCCGAG	0.562000										HNSCC(45;0.13)			6	100					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196395070	196395070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:196395070G>A	ENST00000367433.5	-	11	1134	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.R345*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R345*|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	345						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGTACCCTTCGAACCTGTACA	0.383000													16	61					0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23346017	23346017	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:23346017C>T	ENST00000338121.5	+	2	1074	c.997C>T	c.(997-999)Ctg>Ttg	p.L333L	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Silent_p.L333L			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	333					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GAAGAGCTTCCTGAAGCACAG	0.582000													24	104					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64665324	64665324	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:64665324G>A	ENST00000421419.2	-	35	5101	c.4987C>T	c.(4987-4989)Ccc>Tcc	p.P1663S	ATG2A_ENST00000377264.3_Missense_Mutation_p.P1661S			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1661							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AAGTAGATGGGCTGCTGGTCA	0.682000													8	59					0	0	1	0	0
GJC3	349149	broad.mit.edu	37	7	99526934	99526934	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99526934C>T	ENST00000312891.2	-	1	309	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	104						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCTGATAATTCCCAGTGCCAG	0.582000													19	242					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161161178	161161178	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:161161178C>T	ENST00000367996.4	-	9	2692	c.2264G>A	c.(2263-2265)gGg>gAg	p.G755E		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	755	Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCTGACTGCCCCAGGCAGTAC	0.607000													5	55					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436522	56436522	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:56436522C>T	ENST00000327381.5	+	3	1789	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	563						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)			ATCAGAAATTCGCAGAGCGGG	0.567000													6	45					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585211	82585211	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82585211C>T	ENST00000423517.2	-	5	5395	c.5058G>A	c.(5056-5058)caG>caA	p.Q1686Q	PCLO_ENST00000333891.8_Silent_p.Q1686Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1617					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						TTGTTTTTTTCTGTGATGACT	0.423000													5	31					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86210383	86210383	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:86210383T>C	ENST00000370571.2	-	57	5004	c.4638A>G	c.(4636-4638)aaA>aaG	p.K1546K	COL24A1_ENST00000436319.1_Silent_p.K1525K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1546	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TAAGTAAATCTTTGCAGATTC	0.368000													13	57					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50765707	50765707	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:50765707C>T	ENST00000404971.1	-	11	3286	c.1947G>A	c.(1945-1947)ctG>ctA	p.L649L	NRXN1_ENST00000405472.3_Silent_p.L601L|NRXN1_ENST00000401669.2_Silent_p.L609L|NRXN1_ENST00000406859.3_Silent_p.L609L|NRXN1_ENST00000406316.2_Silent_p.L609L|NRXN1_ENST00000402717.3_Silent_p.L601L|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	609	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTCATCATCCAGGTCCAGAA	0.517000													7	59					0	0	1	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512954	68512954	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:68512954C>T	ENST00000370981.1	-	4	663	c.27G>A	c.(25-27)aaG>aaA	p.K9K	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.K9K|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	9					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCTTCTGTTCCTTGGAGCCAA	0.582000													8	65					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543237	182543237	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:182543237C>T	ENST00000295108.3	-	2	808	c.351G>A	c.(349-351)ctG>ctA	p.L117L	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	117	Helix-loop-helix motif.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCGCCGCGTTCAGTCCGTGCA	0.547000													5	40					0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40062678	40062678	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:40062678G>A	ENST00000350221.3	-	3	469	c.260C>T	c.(259-261)tCa>tTa	p.S87L		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	87										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		ATCTTCATCTGATCCCTCTTC	0.378000													6	92					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476122	17476122	+	Silent	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:17476122T>G	ENST00000252590.4	-	3	1213	c.1152A>C	c.(1150-1152)tcA>tcC	p.S384S		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	384						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTCCAGGGCTGAGTTTCTGA	0.602000													15	89					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629998	47629998	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:47629998C>T	ENST00000546455.1	+	4	1883	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	PCED1B_ENST00000432328.1_Silent_p.F384F					PC-esterase domain containing 1B																		TGCCCTTCTTCCCCACACCCC	0.562000													25	80					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692204	116692204	+	Silent	SNP	G	G	A	rs145525856	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:116692204G>A	ENST00000357780.3	-	3	684	c.570C>T	c.(568-570)atC>atT	p.I190I		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CGTTCTGGTCGATCTTGGCCT	0.637000													13	164					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41447046	41447046	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:41447046G>A	ENST00000400454.1	-	27	5283	c.4806C>T	c.(4804-4806)atC>atT	p.I1602I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1602					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.I1602I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCCCCACCAGGATACAGGAGA	0.567000													5	44					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126432760	126432760	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:126432760C>T	ENST00000525144.2	-	2	352	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	KIRREL3_ENST00000529097.2_Missense_Mutation_p.A35T|KIRREL3_ENST00000525704.2_Missense_Mutation_p.A35T|KIRREL3_ENST00000533026.2_5'UTR|KIRREL3-AS1_ENST00000548204.1_RNA	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	35					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTGTCCTTGGCCATGTAGCCC	0.547000													4	74					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138447771	138447771	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:138447771C>T	ENST00000310018.2	-	6	574		c.e6-1		ATP6V0A4_ENST00000393054.1_Splice_Site|ATP6V0A4_ENST00000353492.4_Splice_Site|ATP6V0A4_ENST00000483139.1_Splice_Site	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4						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						CTAGAACAGTCTATGCAGGAA	0.408000													12	61					0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12874530	12874530	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:12874530G>A	ENST00000264827.5	-	20	2054	c.1884C>T	c.(1882-1884)tcC>tcT	p.S628S	HOOK2_ENST00000397668.3_Silent_p.S630S	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	630	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GTGTCCTCAGGGAATGGAGTT	0.602000													9	58					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87173569	87173569	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:87173569G>A	ENST00000265724.3	-	18	2504	c.2087C>T	c.(2086-2088)tCc>tTc	p.S696F	ABCB1_ENST00000543898.1_Missense_Mutation_p.S632F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	696					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCTCCAAAAGGAAACTGGAGG	0.328000													4	37					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107688409	107688409	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:107688409C>T	ENST00000388781.3	-	28	4353	c.4270G>A	c.(4270-4272)Gaa>Aaa	p.E1424K	LAMB4_ENST00000205386.4_Missense_Mutation_p.E1424K|LAMB4_ENST00000388780.3_Missense_Mutation_p.E1424K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1424	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GATTTTGCTTCCTGGGCTTTT	0.478000													4	82					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113485720	113485720	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:113485720C>T	ENST00000487903.1	+	13	1341	c.1253C>T	c.(1252-1254)aCc>aTc	p.T418I	ATP11A_ENST00000283558.8_Missense_Mutation_p.T418I|ATP11A_ENST00000375630.2_Missense_Mutation_p.T418I|ATP11A_ENST00000375645.3_Missense_Mutation_p.T418I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	418					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AAGACCGGCACCCTCACGGAA	0.607000													8	41					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65486411	65486411	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:65486411C>T	ENST00000519389.1	+	21	3715	c.3536C>T	c.(3535-3537)gCt>gTt	p.A1179V	HEPH_ENST00000441993.2_Missense_Mutation_p.A1127V|HEPH_ENST00000343002.2_Missense_Mutation_p.A1125V|HEPH_ENST00000419594.1_Missense_Mutation_p.A936V|HEPH_ENST00000374727.3_Missense_Mutation_p.A1128V|HEPH_ENST00000336279.5_Missense_Mutation_p.A858V			Q9BQS7	HEPH_HUMAN	hephaestin	1125					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						GTTGTTCTGGCTCTTGGTGGA	0.483000													8	31					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	907761	907761	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:907761G>A	ENST00000379409.2	+	9	1145	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.G320E|PLEKHN1_ENST00000379407.2_Missense_Mutation_p.G332E			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	372										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CACAGGGAGGGGGCCCCGCCG	0.672000													4	14					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60503777	60503777	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:60503777C>T	ENST00000371201.3	-	6	857	c.750G>A	c.(748-750)gtG>gtA	p.V250V	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	250							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTTCATAATTCACCTGAAAAT	0.333000													6	21					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271659	164271659	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:164271659C>T	ENST00000515560.1	+	4	1756	c.234C>T	c.(232-234)ttC>ttT	p.F78F	NPY5R_ENST00000506953.1_Silent_p.F78F|NPY5R_ENST00000338566.3_Silent_p.F78F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	78					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CGGTAAACTTCCTCATAGGCA	0.413000													18	166					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138667284	138667284	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:138667284A>T	ENST00000520602.1	-	27	3151	c.2866T>A	c.(2866-2868)Tca>Aca	p.S956T	MCF2_ENST00000414978.1_Missense_Mutation_p.S956T|MCF2_ENST00000370573.4_Intron|MCF2_ENST00000370576.4_Missense_Mutation_p.S896T|MCF2_ENST00000370578.4_Missense_Mutation_p.S1041T|MCF2_ENST00000338585.6_Missense_Mutation_p.S912T|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000519895.1_Missense_Mutation_p.S972T			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	896					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TAGTTGCTTGACCATTCCGCA	0.358000													34	127					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150389	34150389	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:34150389C>T	ENST00000346193.3	-	1	58	c.7G>A	c.(7-9)Gac>Aac	p.D3N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	3										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						AGCCTCTGGTCCCCCATGGTG	0.642000													11	25					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111286466	111286466	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:111286466C>T	ENST00000352690.4	+	3	755	c.515C>T	c.(514-516)tCa>tTa	p.S172L	CD96_ENST00000283285.5_Missense_Mutation_p.S172L|CD96_ENST00000438817.2_Missense_Mutation_p.S172L	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	172	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TCAAAAATTTCATCTGAGTTC	0.368000									Opitz Trigonocephaly syndrome				10	30					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95093536	95093536	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:95093536C>T	ENST00000371501.4	-	42	4820	c.4698G>A	c.(4696-4698)caG>caA	p.Q1566Q	MYOF_ENST00000359263.4_Silent_p.Q1566Q|MYOF_ENST00000358334.5_Silent_p.Q1553Q|MYOF_ENST00000371502.4_Silent_p.Q1585Q			Q9NZM1	MYOF_HUMAN	myoferlin	1566	C2 5.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTCCTGGGGCTGGAGCTCTA	0.507000													5	34					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11726160	11726160	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:11726160C>T	ENST00000262442.3	+	48	9123	c.9055C>T	c.(9055-9057)Cac>Tac	p.H3019Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.H3019Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3019	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		GGCCTTTGTCCACACAAGTGT	0.418000													13	115					0	0	1	0	0
RP1-241P17.4	0	broad.mit.edu	37	X	114953374	114953374	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:114953374C>T	ENST00000449327.1	-	1	295	c.176G>A	c.(175-177)aGa>aAa	p.R59K																								GAATCGGAATCTGATCTGCCT	0.443000													10	63					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524770	112524770	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:112524770G>A	ENST00000369697.1	-	1	648	c.579C>T	c.(577-579)atC>atT	p.I193I	KCND3_ENST00000315987.2_Silent_p.I193I|KCND3_ENST00000302127.4_Silent_p.I193I			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	193						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)		CCGAGACAGCGATGAAGAAGC	0.657000													9	40					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203194946	203194946	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:203194946C>T	ENST00000367229.1	-	3	142	c.108G>A	c.(106-108)caG>caA	p.Q36Q	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.Q36Q|CHIT1_ENST00000535569.1_Silent_p.Q46Q	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	36					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GAGCCTCCCCCTGTCTGTACT	0.582000													11	58					0	0	1	0	0
UBXN6	80700	broad.mit.edu	37	19	4447596	4447596	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:4447596G>A	ENST00000301281.6	-	6	690	c.566C>T	c.(565-567)cCc>cTc	p.P189L	UBXN6_ENST00000394765.3_Missense_Mutation_p.P136L|CTB-50L17.7_ENST00000588798.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	189	PUB.					microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CTCCTCCTCGGGGTGCAGGTG	0.667000													6	69					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56868648	56868648	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:56868648C>T	ENST00000564887.1	+	14	2000	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	NUP93_ENST00000542526.1_Silent_p.F457F|NUP93_ENST00000569842.1_Silent_p.F580F|NUP93_ENST00000308159.5_Silent_p.F580F	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	580					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTCCACAGTTCGATATGATTC	0.338000													4	27					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863845	55863845	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55863845G>A	ENST00000327335.4	-	1	77	c.78C>T	c.(76-78)ttC>ttT	p.F26F	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	26					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						GTAGAAATAAGAAAATTACAA	0.358000													3	35					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72806823	72806823	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:72806823C>T	ENST00000264839.7	+	3	417	c.417C>T	c.(415-417)ttC>ttT	p.F139F	RIMS1_ENST00000518273.1_Silent_p.F139F|RIMS1_ENST00000521978.1_Silent_p.F139F|RIMS1_ENST00000517960.1_Silent_p.F139F|RIMS1_ENST00000348717.5_Silent_p.F139F|RIMS1_ENST00000522291.1_Silent_p.F139F|RIMS1_ENST00000491071.2_Silent_p.F139F|RIMS1_ENST00000520567.1_Silent_p.F139F			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	139	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCACTAAGTTCTGTGCGCGCT	0.493000													4	30					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589586	140589586	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140589586G>A	ENST00000239450.2	+	1	1296	c.1107G>A	c.(1105-1107)agG>agA	p.R369R	PCDHB12_ENST00000541609.1_Silent_p.R32R	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		369	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTTTTCAGGATACGAGACA	0.438000													8	38					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112028387	112028387	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:112028387C>T	ENST00000369716.4	-	5	1081	c.948G>A	c.(946-948)agG>agA	p.R316R	ADORA3_ENST00000369717.4_Silent_p.R235R	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GACTTCTCCTCCTTTTGGTCA	0.428000													4	83					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440560	124440560	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:124440560C>T	ENST00000284287.3	+	1	668	c.596C>T	c.(595-597)cCt>cTt	p.P199L		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GACATCCTCCCTCTCATGAAG	0.458000													20	78					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43919782	43919782	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:43919782G>A	ENST00000282406.4	+	4	426	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	106						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCAAAACTTGGAATTGCAACT	0.348000													5	65					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33467231	33467231	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:33467231G>A	ENST00000379471.2	-	14	1842	c.1755C>T	c.(1753-1755)tcC>tcT	p.S585S	NOL6_ENST00000455041.2_Silent_p.S533S|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	585					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)		GCTCCGAGCGGGATCCCCAGA	0.607000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	21					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907328	153907328	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:153907328C>T	ENST00000361217.4	-	18	3099	c.2681G>A	c.(2680-2682)cGg>cAg	p.R894Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	894	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ctgctgttgcCGTTCTCTCAA	0.642000													7	82					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193028503	193028503	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:193028503G>A	ENST00000342358.4	-	21	2566	c.2449C>T	c.(2449-2451)Ctg>Ttg	p.L817L	ATP13A5_ENST00000495496.1_5'UTR|ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	817					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)		CCATTCACCAGAATCTAAAAA	0.333000													3	44					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408988	130408988	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:130408988C>T	ENST00000370904.1	-	23	4340	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	IGSF1_ENST00000361420.3_Missense_Mutation_p.E1153K|IGSF1_ENST00000370903.3_Missense_Mutation_p.E1158K|IGSF1_ENST00000370910.1_Missense_Mutation_p.E1144K			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1153	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACCCAGATCTCCAGGGAGTCA	0.453000													28	148					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57815687	57815687	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:57815687G>A	ENST00000281282.5	+	11	2794	c.2715_splice	c.e11-1	p.G906_splice		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	906						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CCATTTGCAGGGAAATCTGAG	0.502000													6	24					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80623136	80623136	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:80623136G>A	ENST00000458043.2	+	7	568	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	OTOGL_ENST00000547103.1_Missense_Mutation_p.E188K	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTATGGTCATGAAATAAAAAA	0.363000													4	41					0	0	1	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394320	39394320	+	Missense_Mutation	SNP	C	C	T	rs35424651	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39394320C>T	ENST00000254072.6	+	1	24	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	6						keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CACTGTTGTTCCCCTTGCTGT	0.572000													5	84					0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198722	15198722	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15198722C>T	ENST00000209540.2	+	1	932	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	282					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						GGGTGTTCATCCCCATGCTCA	0.567000													5	35					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754826	49754826	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:49754826G>A	ENST00000304801.3	-	1	227	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	25	Substrate binding (By similarity).				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TGGGAACATTGAAGTCTACTC	0.428000													12	90					0	0	1	0	0
MMD	23531	broad.mit.edu	37	17	53481141	53481141	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:53481141G>A	ENST00000262065.3	-	5	729	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	145					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCATGGTAGAGAAATACATAA	0.328000													4	36					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74597754	74597754	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:74597754C>T	ENST00000361874.3	-	10	1359	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	DCTN1_ENST00000409438.1_Missense_Mutation_p.E214K|DCTN1_ENST00000394003.3_Missense_Mutation_p.E341K|DCTN1_ENST00000409240.1_Missense_Mutation_p.E311K|DCTN1_ENST00000409868.1_Missense_Mutation_p.E331K|DCTN1_ENST00000407639.2_Missense_Mutation_p.E214K|DCTN1_ENST00000409567.3_Missense_Mutation_p.E328K	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	348					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTACCCTTCTCTTCAATCTCA	0.567000													13	102					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101832635	101832635	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:101832635C>T	ENST00000263468.8	+	6	1139	c.869C>T	c.(868-870)tCa>tTa	p.S290L	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S91L	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	290							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AATATGCAATCAACTAATCTC	0.348000													5	48					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69320567	69320567	+	Missense_Mutation	SNP	G	G	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:69320567G>C	ENST00000260364.5	+	4	434	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	NOX5_ENST00000530406.2_Missense_Mutation_p.E63Q|NOX5_ENST00000448182.3_Missense_Mutation_p.E45Q|NOX5_ENST00000455873.3_Missense_Mutation_p.E56Q|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000388866.3_Missense_Mutation_p.E63Q			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	63	EF-hand 1.|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						CTTCTTTGCAGAGCGATTCTT	0.572000													5	176					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148044410	148044410	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:148044410C>T	ENST00000370460.2	+	13	3335	c.2856C>T	c.(2854-2856)acC>acT	p.T952T	AFF2_ENST00000286437.5_Silent_p.T593T|AFF2_ENST00000342251.3_Silent_p.T919T|AFF2_ENST00000370457.5_Silent_p.T919T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	952					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCACATCTACCAAACCTAAGA	0.423000													7	34					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176314546	176314546	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:176314546T>C	ENST00000292432.5	-	11	1597	c.1506A>G	c.(1504-1506)gcA>gcG	p.A502A		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	502	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGCATCTGTGCCTGAACCG	0.677000													11	39					0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411213	32411213	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:32411213G>A	ENST00000395388.2	+	3	689	c.580G>A	c.(580-582)Ggc>Agc	p.G194S	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.G169S	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	194	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GGAGCACTGGGGCTTGGATGA	0.517000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				11	78					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733789	28733789	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:28733789G>A	ENST00000550043.1	+	0	194																											CCGGGATGCAGGAGGAGAGCC	0.617000													5	29					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151727477	151727477	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:151727477G>A	ENST00000535741.1	-	33	5937	c.5464C>T	c.(5464-5466)Ctt>Ttt	p.L1822F	LRBA_ENST00000507224.1_Missense_Mutation_p.L1822F|LRBA_ENST00000357115.3_Missense_Mutation_p.L1822F|LRBA_ENST00000510413.1_Missense_Mutation_p.L1822F			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1822						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTCCGAGAAAGAAAAGGTGCA	0.368000													8	17					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130159091	130159091	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:130159091A>T	ENST00000265379.6	+	35	6403	c.5909A>T	c.(5908-5910)aAt>aTt	p.N1970I	COL6A5_ENST00000432398.2_Missense_Mutation_p.N1970I			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1970	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						CTCATAGACAATTCTCGGAAT	0.398000													7	24					0	0	1	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675107	40675107	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:40675107C>T	ENST00000416151.2	+	1	186	c.71C>T	c.(70-72)tCc>tTc	p.S24F	KNSTRN_ENST00000448395.2_Missense_Mutation_p.S24F|KNSTRN_ENST00000249776.8_Missense_Mutation_p.S24F	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein									p.S24F(1)									GAGTGCGATTCCCACCCACTT	0.567000													12	58					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073482	134073482	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:134073482C>T	ENST00000264360.4	+	1	3013	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	729					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCTTCATCTTCCTGCTGGCCA	0.592000													4	65					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211093131	211093131	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:211093131C>T	ENST00000367007.4	-	7	1401	c.1232G>A	c.(1231-1233)gGg>gAg	p.G411E	KCNH1_ENST00000271751.4_Missense_Mutation_p.G438E	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	438					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTCCCACTTCCCTGAGCCAGA	0.517000													15	73					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179441463	179441463	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179441463C>T	ENST00000589042.1	-	325	69732	c.69508G>A	c.(69508-69510)Gaa>Aaa	p.E23170K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E14105K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E14230K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E21529K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E14297K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E20602K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21529	Fibronectin type-III 68.						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)			CCTGTAATTTCGCTGCCACCA	0.473000													22	112					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74361174	74361174	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:74361174C>T	ENST00000377044.4	-	3	954	c.415G>A	c.(415-417)Gat>Aat	p.D139N	TMEM2_ENST00000377066.5_Missense_Mutation_p.D139N	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	139	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CGGAGCATATCTCCCTCCTTG	0.453000													14	62					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83634661	83634661	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:83634661C>T	ENST00000265362.3	-	11	1668	c.1354G>A	c.(1354-1356)Gga>Aga	p.G452R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G452R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	452	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.G452R(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTACCTGTTCCGATAAACATA	0.358000													6	77					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158716371	158716371	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:158716371C>T	ENST00000407559.3	+	17	2362	c.2204C>T	c.(2203-2205)tCt>tTt	p.S735F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	735										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CTGCATTACTCTGTGACGCTG	0.527000													45	116					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151804202	151804202	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:151804202C>T	ENST00000318247.6	-	1	146	c.40_splice	c.e1+1	p.R13_splice	RORC_ENST00000392697.3_5'UTR	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	13	Modulating (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCTTACCCCGTGAGGCTC	0.662000													8	129					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53242561	53242561	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53242561G>A	ENST00000304620.4	-	1	217	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	52	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GTACTCCCACGAGAGCCTTCC	0.672000													3	26					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33700218	33700218	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:33700218C>T	ENST00000336934.5	-	7	2198	c.2082_splice	c.e7+1	p.Q694_splice	STARD13_ENST00000399365.3_Splice_Site_p.Q576_splice|STARD13_ENST00000255486.4_Splice_Site_p.Q686_splice	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	694	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ACAGCCCTACCTGATCGAGGC	0.557000													9	60					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088883	86088883	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:86088883C>T	ENST00000330753.4	+	2	1792	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L	FLRT2_ENST00000554746.1_Missense_Mutation_p.P342L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	342	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGCCAAGGTCCTGAACAAGTC	0.507000													29	141					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56487294	56487294	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:56487294G>A	ENST00000267101.3	+	12	1880	c.1440G>A	c.(1438-1440)gaG>gaA	p.E480E	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Silent_p.E421E	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	480					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTACGGAAGAGCGACTAGACA	0.542000													9	68					0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96034544	96034544	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:96034544A>G	ENST00000358812.4	+	2	363	c.229A>G	c.(229-231)Aaa>Gaa	p.K77E	MANEA_ENST00000369293.1_Missense_Mutation_p.K77E	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	77	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		CAAGAATTTAAAAAGTGTTGA	0.333000													5	85					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84472808	84472808	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:84472808C>T	ENST00000416219.2	+	12	1112	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	ATP2C2_ENST00000262429.4_Silent_p.I341I|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	341					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTCTGCCCATCGTCGTCATGG	0.567000													6	55					0	0	1	0	0
DHX15	1665	broad.mit.edu	37	4	24543556	24543556	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:24543556A>G	ENST00000336812.4	-	8	1581	c.1425T>C	c.(1423-1425)cgT>cgC	p.R475R		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	475	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CAGGTCTGGTACGTCCAGCTC	0.428000													8	45					0	0	1	0	0
PHOSPHO1	162466	broad.mit.edu	37	17	47304121	47304121	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:47304121C>T	ENST00000413580.1	-	2	299		c.e2-1		PHOSPHO1_ENST00000514112.1_5'UTR|PHOSPHO1_ENST00000310544.4_Splice_Site	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1						regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	TCACACGTTCCTGACAACCAC	0.562000													4	30					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335105	42335105	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:42335105G>A	ENST00000262418.6	-	12	1508	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	451	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCAGCAGGGCGAAGAGAATGC	0.592000													11	44					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51198102	51198102	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:51198102G>A	ENST00000266037.9	+	12	1029	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	336						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGAAGTAAAGGAAGAAAAGGA	0.443000													3	11					0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81205363	81205363	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:81205363C>T	ENST00000552864.1	-	5	785	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	195					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GCCTCCATTTCTTCCAGAACT	0.512000													5	32					0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109050778	109050778	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:109050778C>T	ENST00000335658.6	-	3	333	c.279G>A	c.(277-279)ctG>ctA	p.L93L	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	93						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCCGGTGAATCAGATTAACAG	0.547000													12	122					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92469970	92469970	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:92469970G>A	ENST00000370389.2	+	17	3093		c.e17-1		BRDT_ENST00000399546.2_Splice_Site|BRDT_ENST00000394530.3_Splice_Site|BRDT_ENST00000402388.1_Splice_Site|BRDT_ENST00000362005.3_Splice_Site	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATTTGTTTTAGGATATAAAGA	0.313000													17	85					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345329	20345329	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20345329G>A	ENST00000298642.2	+	1	939	c.903G>A	c.(901-903)ctG>ctA	p.L301L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGAGGAAACTGAAAAATAGGT	0.348000													4	76					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43281849	43281849	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:43281849G>A	ENST00000269844.3	-	7	824	c.714C>T	c.(712-714)ttC>ttT	p.F238F	PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000398548.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CACAGTCACTGAACTTGTGTG	0.493000													3	18					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4247730	4247730	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:4247730G>A	ENST00000404826.2	+	37	5353		c.e37-1		SDK1_ENST00000389531.3_Splice_Site	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1						cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTTCCTAACAGATTTACTACT	0.562000													7	76					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21437843	21437843	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:21437843G>A	ENST00000313654.9	+	33	4413	c.4172G>A	c.(4171-4173)cGa>cAa	p.R1391Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1391Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1391	Domain III B.|Laminin EGF-like 11.				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)	CAGTGTGACCGATGTGCTTCC	0.498000													14	79					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114293187	114293187	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:114293187G>A	ENST00000309235.5	+	3	603	c.445G>A	c.(445-447)Gag>Aag	p.E149K	ZNF483_ENST00000355824.3_Missense_Mutation_p.E149K|ZNF483_ENST00000358151.4_Missense_Mutation_p.E149K	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	149					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TGTTTCCCAAGAGGAGAACTC	0.368000													4	57					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128135050	128135050	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:128135050G>A	ENST00000368250.1	-	5	997	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	THEMIS_ENST00000368248.2_Missense_Mutation_p.P246S|THEMIS_ENST00000543064.1_Missense_Mutation_p.P246S|THEMIS_ENST00000537166.1_Missense_Mutation_p.P211S			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	246	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTAGACTGGGGAGGATGCGG	0.353000													10	91					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681201	100681201	+	Silent	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100681201C>G	ENST00000306151.4	+	3	6568	c.6504C>G	c.(6502-6504)gtC>gtG	p.V2168V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2168	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTATGCCTGTCAGCACCACAG	0.468000													25	364					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50822772	50822772	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:50822772C>T	ENST00000398473.2	+	3	333	c.221C>T	c.(220-222)tCa>tTa	p.S74L	LARP4_ENST00000429001.3_Missense_Mutation_p.S80L|LARP4_ENST00000347328.5_Missense_Mutation_p.S74L|LARP4_ENST00000522085.1_Missense_Mutation_p.S74L|LARP4_ENST00000518444.1_Missense_Mutation_p.S73L|LARP4_ENST00000518561.1_Missense_Mutation_p.S4L|LARP4_ENST00000293618.8_Missense_Mutation_p.S74L	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	74							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATGTATTCTTCATCTTGTGAA	0.323000													14	44					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147297	26147297	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:26147297G>A	ENST00000331351.5	+	2	1491	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	367					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCCCGCCGGGGAAATGGCCAA	0.502000													18	62					0	0	1	0	0
CLEC2L	154790	broad.mit.edu	37	7	139229058	139229058	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:139229058C>T	ENST00000422142.2	+	5	687	c.615C>T	c.(613-615)ccC>ccT	p.P205P		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	205	C-type lectin.					integral to membrane	sugar binding			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					TGACCCGGCCCTGGGTGTGCA	0.637000													4	25					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47317690	47317690	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:47317690G>A	ENST00000398879.1	-	31	4688	c.4322C>T	c.(4321-4323)tCc>tTc	p.S1441F	TNS3_ENST00000355730.3_Missense_Mutation_p.S1201F|TNS3_ENST00000311160.9_Missense_Mutation_p.S1441F			Q68CZ2	TENS3_HUMAN	tensin 3	1441						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTCTTTGGGGAACCAATCAT	0.577000													8	33					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703934	4703934	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4703934G>A	ENST00000396950.3	-	2	247	c.8C>T	c.(7-9)tCc>tTc	p.S3F		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAAGTTGCAGGAACTCATAGC	0.507000													4	41					0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50659177	50659177	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:50659177C>T	ENST00000252677.3	+	2	749	c.749C>T	c.(748-750)cCc>cTc	p.P250L		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	250					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	p.P250F(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AAATTTCTTCCCAGGGGCATG	0.463000													7	14					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131486883	131486883	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:131486883C>T	ENST00000309926.4	+	1	241	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	53				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					ACTGGCTTTTCCTTCCCTCAA	0.632000													7	34					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16816047	16816047	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:16816047C>T	ENST00000355661.3	-	19	2743	c.2733G>A	c.(2731-2733)gcG>gcA	p.A911A	PLEKHA7_ENST00000448080.2_Silent_p.A911A|PLEKHA7_ENST00000531066.1_Silent_p.A911A|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	911	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CTTTGGGCTTCGCCTTAGTTG	0.522000													17	70					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55223686	55223686	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55223686G>A	ENST00000340465.2	+	6	788	c.701_splice	c.e6-1	p.R234_splice		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	234						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)			CTTTCTCTAGGAGGCACTATA	0.388000													17	59					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155348300	155348300	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:155348300G>A	ENST00000368346.3	-	9	6871	c.6232C>T	c.(6232-6234)Cgt>Tgt	p.R2078C	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2073C			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2078					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.R2073C(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCACTTGAACGAATTTTCTTA	0.343000													8	41					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117243763	117243763	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:117243763G>A	ENST00000003084.6	+	17	2967	c.2835G>A	c.(2833-2835)tcG>tcA	p.S945S	CFTR_ENST00000454343.1_Silent_p.S884S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	945	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.S945S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCACAGTGTCGAAAATTTTAC	0.398000									Cystic Fibrosis				11	92					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46135628	46135628	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:46135628C>T	ENST00000371383.2	-	3	632	c.372G>A	c.(370-372)tgG>tgA	p.W124*	ENPP5_ENST00000230565.3_Nonsense_Mutation_p.W124*			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	124						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						GGTTTGTGATCCATATTGGTG	0.408000													15	91					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361587	105361587	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:105361587G>A	ENST00000297581.2	+	2	856	c.807G>A	c.(805-807)ctG>ctA	p.L269L	DCSTAMP_ENST00000517991.1_Silent_p.L269L|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	269					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TGCTCCCGCTGAATAAGGAGG	0.468000													11	73					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048073	6048073	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6048073G>A	ENST00000316650.5	-	1	898	c.862C>T	c.(862-864)Cac>Tac	p.H288Y		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAATAAGGTGATGAAGGACG	0.468000													8	85					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159567960	159567960	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:159567960G>A	ENST00000307765.5	+	16	1614	c.1363G>A	c.(1363-1365)Gga>Aga	p.G455R	RXFP1_ENST00000343542.5_Missense_Mutation_p.G407R|RXFP1_ENST00000470033.1_Missense_Mutation_p.G422R|RXFP1_ENST00000460056.2_Missense_Mutation_p.G374R|RXFP1_ENST00000448688.2_Missense_Mutation_p.G350R	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	455						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTGCTTAATGGGAATATATTT	0.358000													8	92					0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110112665	110112665	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:110112665G>A	ENST00000230124.3	+	20	2391	c.2267G>A	c.(2266-2268)aGc>aAc	p.S756N	FIG4_ENST00000441478.2_Missense_Mutation_p.S479N	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	756	Poly-Ser.				cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GCTGTGTCCAGCAGCTCTGAG	0.542000													8	81					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103179671	103179671	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:103179671G>A	ENST00000424685.2	-	45	7193	c.7034C>T	c.(7033-7035)cCc>cTc	p.P2345L	RELN_ENST00000428762.1_Missense_Mutation_p.P2345L|RELN_ENST00000343529.5_Missense_Mutation_p.P2345L			P78509	RELN_HUMAN	reelin	2345					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCACACACGGGCATCTTGGT	0.493000													8	41					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49210283	49210283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:49210283G>A	ENST00000406846.2	-	7	666	c.547C>T	c.(547-549)Caa>Taa	p.Q183*	FSHR_ENST00000304421.4_Nonsense_Mutation_p.Q157*|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Nonsense_Mutation_p.Q183*|FSHR_ENST00000469138.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	183					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGTATTTCTTGAATCCCATTC	0.378000									Gonadal Dysgenesis, 46 XX				4	23					0	0	1	0	0
UTY	7404	broad.mit.edu	37	Y	15417984	15417984	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrY:15417984C>A	ENST00000331397.4	-	21	4066	c.3059G>T	c.(3058-3060)aGg>aTg	p.R1020M	UTY_ENST00000362096.4_Missense_Mutation_p.R1020M|UTY_ENST00000537580.1_Missense_Mutation_p.R941M|UTY_ENST00000382896.4_Missense_Mutation_p.R1065M	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	1020					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						TTTCCTTCTCCTTCCAGAACT	0.358000													3	15					6.4e-05	6.44459e-05	1	1	0
IGFN1	91156	broad.mit.edu	37	1	201194981	201194981	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:201194981C>T	ENST00000335211.4	+	22	10646	c.10516C>T	c.(10516-10518)Ctg>Ttg	p.L3506L	IGFN1_ENST00000295591.8_Silent_p.T600T	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCCCATCCACCTGCAGGAGAA	0.682000													7	36					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186281401	186281401	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:186281401G>A	ENST00000445192.2	+	11	3933	c.3888G>A	c.(3886-3888)acG>acA	p.T1296T	PRG4_ENST00000367485.4_Silent_p.T1203T|PRG4_ENST00000367486.3_Silent_p.T1253T|PRG4_ENST00000367483.4_Silent_p.T1255T|PRG4_ENST00000367484.3_Silent_p.T825T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1296			T -> M (in dbSNP:rs12134934).		cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ATGGAGAAACGACACAGGTTA	0.443000													19	88					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126146083	126146083	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:126146083C>T	ENST00000373624.2	-	21	1888	c.1687G>A	c.(1687-1689)Gac>Aac	p.D563N	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Missense_Mutation_p.D348N|DENND1A_ENST00000394219.3_Missense_Mutation_p.D574N	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	563						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GCAGCCCGGTCAGGGGGAGCT	0.632000													18	108					0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	132092370	132092370	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:132092370G>A	ENST00000370836.2	-	2	676	c.261C>T	c.(259-261)ttC>ttT	p.F87F	HS6ST2_ENST00000521489.1_Silent_p.F87F	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	87						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ACAGCAGCGCGAAAAGCGGGG	0.726000													3	14					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915202	176915202	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:176915202C>T	ENST00000367654.2	-	13	2146	c.2133G>A	c.(2131-2133)acG>acA	p.T711T	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.T703T|ASTN1_ENST00000361833.2_Silent_p.T703T|ASTN1_ENST00000367657.3_Silent_p.T703T			O14525	ASTN1_HUMAN	astrotactin 1	711					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						GACAGGTCTCCGTGATGAGTT	0.498000													14	72					0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104163179	104163179	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:104163179G>A	ENST00000414303.2	+	5	815	c.751G>A	c.(751-753)Gat>Aat	p.D251N		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	251					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	CTAGGTAATTGATCTGGGTGG	0.343000													7	156					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137793	63137793	+	Missense_Mutation	SNP	C	C	T	rs143461929	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:63137793C>T	ENST00000279178.3	+	1	514	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	SLC22A9_ENST00000310969.4_Missense_Mutation_p.R89C	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	89					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AGAGAAGTGTCGTCGCTTTGT	0.537000													5	86					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70944574	70944574	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:70944574G>A	ENST00000357250.6	-	34	2340	c.2182C>T	c.(2182-2184)Cca>Tca	p.P728S	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.P485S|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Missense_Mutation_p.P485S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	728	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGTCCTCTTGGTCCTTCCACT	0.632000													7	37					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43159890	43159890	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:43159890C>T	ENST00000522175.2	+	0	746							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGCCAAACAACTCTTCTGGAA	0.333000													6	75					0	0	1	0	0
CDHR4	389118	broad.mit.edu	37	3	49836761	49836761	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:49836761C>T	ENST00000412678.2	-	2	167	c.159G>A	c.(157-159)ctG>ctA	p.L53L	CDHR4_ENST00000343366.4_Silent_p.L53L|CDHR4_ENST00000487256.1_Silent_p.L53L	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	53					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						TGAGCAACTCCAGGGTGGGTG	0.567000													3	13					0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151292436	151292436	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:151292436A>T	ENST00000287878.4	-	6	1363	c.859T>A	c.(859-861)Tta>Ata	p.L287I	PRKAG2_ENST00000492843.1_Missense_Mutation_p.L163I|PRKAG2_ENST00000392801.2_Missense_Mutation_p.L243I|PRKAG2_ENST00000433631.2_Missense_Mutation_p.L162I|PRKAG2_ENST00000418337.2_Missense_Mutation_p.L46I	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	287	CBS 1.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CTTACTTGTAATGTAGTATCA	0.353000													8	35					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023298	18023298	+	Missense_Mutation	SNP	C	C	T	rs140221279	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:18023298C>T	ENST00000205890.5	+	2	1522	c.1184C>T	c.(1183-1185)cCc>cTc	p.P395L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	395	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATCTACCCCCCCGAGGTGCCC	0.627000													7	61					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048917	143048917	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143048917G>A	ENST00000343257.2	+	23	2913	c.2826G>A	c.(2824-2826)ctG>ctA	p.L942L		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	942					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTCTCTCCCTGGCCCCAGGCA	0.662000													7	65					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72968699	72968699	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:72968699G>A	ENST00000264839.7	+	18	2938	c.2938G>A	c.(2938-2940)Gaa>Aaa	p.E980K	RIMS1_ENST00000518273.1_Missense_Mutation_p.E980K|RIMS1_ENST00000521978.1_Missense_Mutation_p.E980K|RIMS1_ENST00000425662.2_Missense_Mutation_p.E373K|RIMS1_ENST00000517960.1_Missense_Mutation_p.E979K|RIMS1_ENST00000517827.1_Missense_Mutation_p.E439K|RIMS1_ENST00000348717.5_Missense_Mutation_p.E979K|RIMS1_ENST00000522291.1_Missense_Mutation_p.E979K|RIMS1_ENST00000491071.2_Missense_Mutation_p.E980K|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000401910.3_Missense_Mutation_p.E453K|RIMS1_ENST00000520567.1_Missense_Mutation_p.E979K|RIMS1_ENST00000523963.1_Missense_Mutation_p.E454K			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	980					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAGTTTAGATGAAATTCATCC	0.383000													9	75					0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47409714	47409714	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:47409714C>T	ENST00000378688.4	-	3	805	c.674G>A	c.(673-675)gGg>gAg	p.G225E	HTR2A_ENST00000543956.1_Missense_Mutation_p.G141E|HTR2A_ENST00000542664.1_Missense_Mutation_p.G225E			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	225					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TAAGCAACTCCCCTCCTTAAA	0.408000													8	52					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121211696	121211696	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:121211696G>A	ENST00000297848.3	+	8	1038	c.768G>A	c.(766-768)agG>agA	p.R256R	COL14A1_ENST00000247781.3_Intron|COL14A1_ENST00000309791.4_Silent_p.R256R|COL14A1_ENST00000537875.1_Silent_p.R256R|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	256	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGGATCAAGGACTGGAGTAT	0.368000													5	23					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120760603	120760603	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:120760603T>C	ENST00000273666.6	+	4	615	c.344T>C	c.(343-345)cTa>cCa	p.L115P	STXBP5L_ENST00000472879.1_Missense_Mutation_p.L115P|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L115P|STXBP5L_ENST00000497029.1_Missense_Mutation_p.L115P|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L115P	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	115					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCAGCTGTCCTACAGCTCCAA	0.363000													10	40					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561764	44561764	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:44561764G>A	ENST00000289547.4	-	11	2770	c.2715C>T	c.(2713-2715)acC>acT	p.T905T	NPC1L1_ENST00000381160.3_Silent_p.T905T|NPC1L1_ENST00000546276.1_Silent_p.T859T	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	905					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)	TGTAGCCCAAGGTGGTAACAA	0.547000													5	26					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132289280	132289280	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:132289280A>G	ENST00000467992.2	+	2	1208	c.894A>G	c.(892-894)tcA>tcG	p.S298S	CCDC74A_ENST00000409856.3_Silent_p.S130S|CCDC74A_ENST00000295171.6_Silent_p.S196S			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	196										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGCAAGATTCAAAAGCTGACG	0.582000													17	21					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814764	137814764	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:137814764C>T	ENST00000409968.1	+	3	1092	c.914C>T	c.(913-915)tCg>tTg	p.S305L	THSD7B_ENST00000413152.2_Missense_Mutation_p.S274L|THSD7B_ENST00000272643.3_Missense_Mutation_p.S305L|THSD7B_ENST00000543459.1_Missense_Mutation_p.S164L					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)		CGGCAGGTTTCGTGTACAAGA	0.363000													5	24					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51025800	51025800	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:51025800G>A	ENST00000442544.2	+	27	4647	c.4031G>A	c.(4030-4032)aGc>aAc	p.S1344N	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.S977N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1344					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCACTCCGCAGCTTTGCTAAT	0.522000													13	97					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48259088	48259088	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:48259088G>A	ENST00000435803.1	+	4	449	c.425G>A	c.(424-426)cGa>cAa	p.R142Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	142					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGGTAGAACGATCCAACACT	0.433000													24	119					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94066933	94066933	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94066933G>A	ENST00000553484.1	+	25	3545	c.3391G>A	c.(3391-3393)Gac>Aac	p.D1131N	UNC79_ENST00000393151.2_Missense_Mutation_p.D1131N|UNC79_ENST00000256339.4_Missense_Mutation_p.D954N|UNC79_ENST00000555664.1_Missense_Mutation_p.D1131N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1131						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCTTTGTCTTGACTTCCAGTT	0.383000													8	26					0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159457115	159457115	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:159457115C>T	ENST00000367066.3	-	10	2271	c.1940G>A	c.(1939-1941)aGa>aAa	p.R647K	RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R469K	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	647					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCCCCTGTGTCTTGAGTCCTC	0.622000													5	91					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401788	140401788	+	Missense_Mutation	SNP	G	G	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:140401788G>C	ENST00000286349.3	+	2	1017	c.826G>C	c.(826-828)Gtc>Ctc	p.V276L		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	276						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCAAGACCACGTCTTTGTGGA	0.567000													6	34					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182585212	182585212	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:182585212A>C	ENST00000323116.5	+	15	1928	c.1668A>C	c.(1666-1668)aaA>aaC	p.K556N		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	556					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGGAGGTTAAAACTCTTGGAA	0.299000													11	35					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68478369	68478369	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:68478369G>A	ENST00000255087.5	-	9	1490	c.1307C>T	c.(1306-1308)tCa>tTa	p.S436L		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	436					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGGAAGTCCTGAAAATTTCGT	0.423000													10	30					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502323	94502323	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94502323C>T	ENST00000370225.3	-	26	3921	c.3835G>A	c.(3835-3837)Gat>Aat	p.D1279N		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1279					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GAATCAGAATCCTCCGTGACC	0.438000													42	147					0	0	1	0	0
KCNA7	3743	broad.mit.edu	37	19	49574130	49574130	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49574130G>A	ENST00000221444.1	-	2	916	c.561C>T	c.(559-561)ccC>ccT	p.P187P		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	187						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		TCAGCGGAGCGGGGAACTGCA	0.547000													4	20					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150909266	150909266	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:150909266G>A	ENST00000329903.4	+	4	408	c.374_splice	c.e4-1	p.K125_splice		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	125					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTTCTCAGGAAGAAATTTG	0.507000													15	103					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4832427	4832427	+	Silent	SNP	C	C	T	rs34307148		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:4832427C>T	ENST00000378191.4	+	4	1386	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	AJAP1_ENST00000378190.3_Silent_p.F335F	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	335	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TCACGGACTTCCCCTCGGCCC	0.607000													11	43					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846749	55846749	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55846749G>A	ENST00000322678.1	+	1	752	c.752G>A	c.(751-753)gGa>gAa	p.G251E	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						ATTGCCTATGGAAGCTGCATC	0.418000													7	63					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140752182	140752182	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140752182C>T	ENST00000576222.1	+	1	2352	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGTTCTCCCCACCTACAG	0.502000													6	37					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48580147	48580147	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:48580147G>A	ENST00000262384.3	-	6	2480	c.2244C>T	c.(2242-2244)ttC>ttT	p.F748F	N4BP1_ENST00000565423.1_Intron	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	748					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TGTCCCCCACGAACGTGTACT	0.517000													10	80					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30890699	30890699	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:30890699C>T	ENST00000321897.5	+	22	2763	c.2131C>T	c.(2131-2133)Cct>Tct	p.P711S	VARS2_ENST00000416670.2_Missense_Mutation_p.P711S|VARS2_ENST00000541562.1_Missense_Mutation_p.P741S|VARS2_ENST00000542001.1_Missense_Mutation_p.P571S|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	711					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCACGGGATCCCTGAGTGTGG	0.602000													12	111					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65032635	65032635	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:65032635C>T	ENST00000394156.3	-	4	806	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	CDH11_ENST00000268603.4_Missense_Mutation_p.R118Q|CDH11_ENST00000566827.1_5'UTR			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	118	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R118Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCTCTCTTCTCGATCCAACGT	0.507000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			8	31					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32906615	32906615	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:32906615C>T	ENST00000544455.1	+	10	1227	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	BRCA2_ENST00000380152.3_Missense_Mutation_p.H334Y	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	334					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAATTTTCCATGAAGCAAA	0.294000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			11	70					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503639	40503639	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:40503639C>T	ENST00000590910.1	-	5	515	c.386G>A	c.(385-387)aGg>aAg	p.R129K	RIT2_ENST00000589109.1_Silent_p.Q108Q|RIT2_ENST00000282028.4_Silent_p.Q108Q|RIT2_ENST00000326695.5_Silent_p.Q108Q			Q99578	RIT2_HUMAN	Ras-like without CAAX 2	0					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCAGCCTCCTGAAATGATT	0.507000													37	261					0	0	1	0	0
CLDN19	149461	broad.mit.edu	37	1	43204144	43204144	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:43204144G>A	ENST00000539749.1	-	2	526	c.336C>T	c.(334-336)ccC>ccT	p.P112P	CLDN19_ENST00000296387.1_Silent_p.P112P|CLDN19_ENST00000372539.3_Silent_p.P112P	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN	claudin 19	112					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTTGGCAATGGGGTTGCTGT	0.652000													7	55					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481580	179481580	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179481580C>T	ENST00000589042.1	-	256	48260	c.48036G>A	c.(48034-48036)aaG>aaA	p.K16012K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.K6947K|TTN_ENST00000359218.5_Silent_p.K7072K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Silent_p.K14371K|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Silent_p.K7139K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.K13444K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14371	Fibronectin type-III 16.						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)			CAGACAAGGTCTTCATTTTCA	0.438000													14	63					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202409	140202409	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140202409C>T	ENST00000529859.1	+	1	1049	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A350V|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A350V|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														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)			CCAGAGATGGCCATAACCACC	0.473000													8	42					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51795209	51795209	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:51795209G>A	ENST00000251076.5	-	17	3073	c.2786C>T	c.(2785-2787)tCc>tTc	p.S929F	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.S929F	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	929						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)		ACTCTCAGAGGAAGCCCCTTC	0.358000													8	63					0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124598622	124598622	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:124598622G>A	ENST00000368904.1	-	5	1308	c.359C>T	c.(358-360)tCc>tTc	p.S120F	CUZD1_ENST00000545804.1_Missense_Mutation_p.S120F|CUZD1_ENST00000392790.1_Missense_Mutation_p.S120F			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	120	CUB 1.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CAATGTACTGGATGATGATTC	0.398000													10	178					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086313	100086313	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100086313C>T	ENST00000423930.1	+	4	1128	c.969C>T	c.(967-969)atC>atT	p.I323I	NYAP1_ENST00000454988.1_Silent_p.I266I|NYAP1_ENST00000300179.2_Silent_p.I323I			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	323	Pro-rich.																CTTGTGAAATCCCCCCGCCCT	0.682000													9	76					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898185	30898185	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:30898185C>T	ENST00000375712.3	+	2	772	c.605C>T	c.(604-606)tCt>tTt	p.S202F		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	202	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAGAACCGTTCTGTCGGTGCT	0.498000													6	58					0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725715	168725715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:168725715C>T	ENST00000305861.1	+	2	517	c.166C>T	c.(166-168)Cga>Tga	p.R56*	AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000392690.2_Nonsense_Mutation_p.R56*	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	56					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CATAAGAACTCGACCTATCAA	0.408000													11	84					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20698181	20698181	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:20698181A>C	ENST00000404938.2	+	14	2241	c.1589A>C	c.(1588-1590)aAa>aCa	p.K530T	ABCB5_ENST00000406935.1_Missense_Mutation_p.K85T|ABCB5_ENST00000443026.2_Missense_Mutation_p.K85T|ABCB5_ENST00000258738.6_Missense_Mutation_p.K85T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	85	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGAGGGCAGAAACAGAGGATC	0.433000													4	50					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220497036	220497036	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:220497036G>A	ENST00000358055.3	+	8	1525	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*	SLC4A3_ENST00000273063.6_Nonsense_Mutation_p.W365*|SLC4A3_ENST00000317151.3_Nonsense_Mutation_p.W338*|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Nonsense_Mutation_p.W338*|SLC4A3_ENST00000373762.3_Nonsense_Mutation_p.W365*			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	338					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)		GAGCCCCACTGGCGGGAGACG	0.667000													4	58					0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12091441	12091441	+	Missense_Mutation	SNP	C	C	T	rs150213244	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:12091441C>T	ENST00000235332.4	+	9	1230	c.1061C>T	c.(1060-1062)aCc>aTc	p.T354I	MIIP_ENST00000436478.2_Missense_Mutation_p.P322S|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	354										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CTGTCCGGCACCAGCAGCCCT	0.627000													4	106					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529936	80529936	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:80529936C>T	ENST00000295057.3	-	2	1665	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	337	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AAGTTGCCATCGTAGCGCCCC	0.657000										HNSCC(69;0.2)			3	28					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21940630	21940630	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:21940630C>T	ENST00000328843.6	+	83	13361	c.13330C>T	c.(13330-13332)Cgc>Tgc	p.R4444C	CDCA7L_ENST00000356195.5_3'UTR|CDCA7L_ENST00000406877.3_3'UTR|DNAH11_ENST00000409508.3_Missense_Mutation_p.R4437C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4444					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CATAGGCGCCCGCTGGGACAC	0.493000									Kartagener syndrome				26	165					0	0	1	0	0
ANXA1	301	broad.mit.edu	37	9	75773500	75773500	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:75773500G>A	ENST00000376911.1	+	1	931	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	ANXA1_ENST00000257497.6_Missense_Mutation_p.E17K			P04083	ANXA1_HUMAN	annexin A1	17					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TATTGAAAATGAAGAGCAGGA	0.289000													13	53					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829535	57829535	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:57829535C>T	ENST00000371030.2	+	5	4771	c.4771C>T	c.(4771-4773)Cct>Tct	p.P1591S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1591						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)					GACGTTTTTTCCTTCCAGAGG	0.478000													24	83					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126016	8126016	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:8126016T>G	ENST00000223145.5	+	8	2049	c.1492T>G	c.(1492-1494)Tca>Gca	p.S498A		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	498										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TGAGCAGCTCTCATCCCGGGT	0.567000													21	278					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17213224	17213224	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:17213224C>T	ENST00000595618.1	+	2	849	c.697C>T	c.(697-699)Cag>Tag	p.Q233*	MYO9B_ENST00000593411.1_3'UTR|MYO9B_ENST00000594824.1_Nonsense_Mutation_p.Q233*|MYO9B_ENST00000397274.2_Nonsense_Mutation_p.Q233*	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	233	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCGCGTGAACCAGTGCATCGT	0.617000													13	83					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763924	92763924	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:92763924C>T	ENST00000318238.4	-	5	2577	c.1361G>A	c.(1360-1362)gGa>gAa	p.G454E	SAMD9L_ENST00000411955.1_Missense_Mutation_p.G454E|SAMD9L_ENST00000437805.1_Missense_Mutation_p.G454E	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	454										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)			TTTGACCACTCCATTGATCAT	0.348000													8	73					0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122277865	122277865	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:122277865C>T	ENST00000543163.1	-	14	1372	c.927G>A	c.(925-927)ctG>ctA	p.L309L	HPD_ENST00000289004.4_Silent_p.L348L	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	348					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GGATGACTTCCAGGAAGAGCG	0.607000													12	94					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869882	151869882	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151869882G>A	ENST00000329342.5	+	3	797	c.572G>A	c.(571-573)gGt>gAt	p.G191D		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	191	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGCTGGGTGACAATCAG	0.557000													18	88					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160145912	160145912	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:160145912C>T	ENST00000368081.4	+	16	2813	c.2342C>T	c.(2341-2343)tCc>tTc	p.S781F	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	781					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGAAGAAATCCATCATGTAC	0.562000													35	209					0	0	1	0	0
TSPAN9	10867	broad.mit.edu	37	12	3388214	3388214	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:3388214C>T	ENST00000011898.5	+	5	473	c.312C>T	c.(310-312)ttC>ttT	p.F104F	TSPAN9_ENST00000407263.1_Silent_p.F104F|TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Silent_p.F104F	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	104						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TCATCCTCTTCTTTGTCTACA	0.532000													10	50					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177098682	177098682	+	Silent	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:177098682T>G	ENST00000393643.2	+	29	3906	c.3654T>G	c.(3652-3654)acT>acG	p.T1218T	WDR17_ENST00000508596.1_Silent_p.T1203T|WDR17_ENST00000507824.2_Silent_p.T1217T|WDR17_ENST00000280190.4_Silent_p.T1242T	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1242										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTTATGCAACTTTATTAAAGA	0.318000													3	67					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114215982	114215982	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:114215982C>T	ENST00000369615.1	+	19	3146	c.3084C>T	c.(3082-3084)ccC>ccT	p.P1028P	MAGI3_ENST00000369611.4_Silent_p.P1028P|MAGI3_ENST00000369617.4_Silent_p.P1053P|MAGI3_ENST00000307546.9_Silent_p.P1028P	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1053					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		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)		AGAGAGGCCCCCGGGGCTTTG	0.478000													9	125					0	0	1	0	0
MIEF1	54471	broad.mit.edu	37	22	39908029	39908029	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:39908029C>T	ENST00000325301.2	+	4	744	c.320C>T	c.(319-321)aCa>aTa	p.T107I	SMCR7L_ENST00000402881.1_Missense_Mutation_p.T107I|SMCR7L_ENST00000404569.1_Missense_Mutation_p.T107I	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		107						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					ACCTTCGACACAGGTGAGAAG	0.602000													14	65					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134039325	134039325	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:134039325C>T	ENST00000359428.5	+	20	2936	c.2792C>T	c.(2791-2793)tCc>tTc	p.S931F	RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S932F|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000588325.1_RNA|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S921F|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000586662.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	931	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CACACCAAATCCTTGCCCAAA	0.388000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								29	95					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17122971	17122971	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:17122971G>A	ENST00000265970.7	-	24	3861	c.3862C>T	c.(3862-3864)Cct>Tct	p.P1288S	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.P908S	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1288	PI3K/PI4K.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AGCACAAAAGGAGCCCGATCC	0.383000													4	37					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193032840	193032840	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:193032840C>T	ENST00000342358.4	-	18	2196	c.2079G>A	c.(2077-2079)atG>atA	p.M693I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	693					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)		AGCGATTCTCCATGATGAGAA	0.388000													15	90					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53242492	53242492	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53242492G>A	ENST00000304620.4	-	1	286	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	75	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CACAGGGAGAGCCCAGGCCCA	0.622000													4	41					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90012538	90012538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:90012538C>T	ENST00000405460.2	+	43	9535	c.9439C>T	c.(9439-9441)Cga>Tga	p.R3147*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3147	Calx-beta 22.				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)		AGAAGGTGTTCGATTCAAGGT	0.328000													16	40					0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169707602	169707602	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:169707602G>A	ENST00000444448.2	+	12	1286	c.810G>A	c.(808-810)ctG>ctA	p.L270L	NOSTRIN_ENST00000397209.2_Silent_p.L185L|NOSTRIN_ENST00000317647.7_Silent_p.L213L|NOSTRIN_ENST00000458381.2_Silent_p.L270L|NOSTRIN_ENST00000445023.2_Silent_p.L135L|NOSTRIN_ENST00000421711.2_Silent_p.L185L|NOSTRIN_ENST00000397206.2_Silent_p.L135L			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	213					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AGAGCATTCTGGAGCTGGAGA	0.403000													9	76					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134117	27134117	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:27134117G>A	ENST00000343060.4	-	2	1011	c.950C>T	c.(949-951)tCg>tTg	p.S317L	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	317	Poly-Ser.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AACGCAGGGCGAAGAGCTGGA	0.607000													5	64					0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170618602	170618602	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:170618602C>T	ENST00000513761.1	+	9	1839	c.1280C>T	c.(1279-1281)cCc>cTc	p.P427L	CLCN3_ENST00000504131.2_Missense_Mutation_p.P410L|CLCN3_ENST00000360642.3_Missense_Mutation_p.P400L|CLCN3_ENST00000347613.4_Missense_Mutation_p.P427L	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	427					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GGAAAGTATCCCGTTCTGGAA	0.443000													18	63					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80681643	80681643	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:80681643C>T	ENST00000307624.3	-	2	158	c.130G>A	c.(130-132)Gag>Aag	p.E44K	ACOT12_ENST00000513751.1_Missense_Mutation_p.E44K	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	44	Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GCATGTTTCTCAGCTTCAAAA	0.393000													8	27					0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15053050	15053050	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15053050C>T	ENST00000248072.3	+	1	750	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCAGCTTGTTCTATGGCACTG	0.527000													9	108					0	0	1	0	0
SNTB2	6645	broad.mit.edu	37	16	69279525	69279525	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:69279525A>G	ENST00000336278.4	+	2	639	c.601A>G	c.(601-603)Aca>Gca	p.T201A	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	201	PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CCGAGAAGTAACACCATATAT	0.403000													25	131					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117701773	117701773	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:117701773G>A	ENST00000317775.6	-	13	2828	c.2143C>T	c.(2143-2145)Ccc>Tcc	p.P715S	NOS1_ENST00000338101.4_Missense_Mutation_p.P715S|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	715					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTGTTCCAGGGATCAGGCTGG	0.577000													23	77					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134911575	134911575	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:134911575C>T	ENST00000398015.3	+	11	2410	c.2040C>T	c.(2038-2040)atC>atT	p.I680I	EPHB1_ENST00000493838.1_Silent_p.I241I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	680	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATCCTAACATCATTCGCCTGG	0.537000													6	37					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137988731	137988731	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:137988731C>T	ENST00000409968.1	+	8	2019	c.1841C>T	c.(1840-1842)tCc>tTc	p.S614F	THSD7B_ENST00000413152.2_Missense_Mutation_p.S583F|THSD7B_ENST00000272643.3_Missense_Mutation_p.S614F|THSD7B_ENST00000543459.1_Intron					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)		TCATCCTGTTCCCAGTCCTGT	0.502000													3	30					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45945579	45945579	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:45945579C>G	ENST00000323084.4	-	8	1358	c.1293G>C	c.(1291-1293)gaG>gaC	p.E431D	C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Missense_Mutation_p.E363D	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	431					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCCCATCCACCTCGAAGGCCT	0.587000													19	164					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52870047	52870047	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:52870047G>A	ENST00000356971.3	-	15	2288	c.1799C>T	c.(1798-1800)aCc>aTc	p.T600I	ICK_ENST00000350082.5_Missense_Mutation_p.T600I	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	600					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TCTAGGCTGGGTGTGGAAGAA	0.572000													9	69					0	0	1	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233235	56233235	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:56233235G>A	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							ACCGCCCTACGATAAGAAAAA	0.582000													3	14					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42293297	42293297	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:42293297G>A	ENST00000302904.4	-	4	787	c.295C>T	c.(295-297)Cct>Tct	p.P99S	UBTF_ENST00000436088.1_Missense_Mutation_p.P99S|UBTF_ENST00000529383.1_Missense_Mutation_p.P99S|UBTF_ENST00000526094.1_Missense_Mutation_p.P99S|UBTF_ENST00000533177.1_Missense_Mutation_p.P99S|UBTF_ENST00000393606.3_Missense_Mutation_p.P99S|UBTF_ENST00000343638.5_Missense_Mutation_p.P99S|UBTF_ENST00000527034.1_Missense_Mutation_p.P99S|UBTF_ENST00000537550.1_5'UTR|CTB-175E5.7_ENST00000586560.1_RNA			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	99					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCTTTGTAAGGATTTTTAACA	0.468000													4	75					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69968151	69968151	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:69968151C>T	ENST00000299293.2	+	10	1453	c.943C>T	c.(943-945)Cct>Tct	p.P315S	FRS2_ENST00000397997.2_Missense_Mutation_p.P315S|FRS2_ENST00000549921.1_Missense_Mutation_p.P315S|FRS2_ENST00000550389.1_Missense_Mutation_p.P315S	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	315					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTATCTATCCCTAGTGCCTC	0.433000													9	80					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142741801	142741801	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:142741801C>T	ENST00000473835.2	+	12	1215	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	U2SURP_ENST00000493598.2_Silent_p.P374P|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	375	Pro-rich.				RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						ATACGCTTCCCCCACCTCCAT	0.438000													4	20					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11726320	11726320	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:11726320G>A	ENST00000262442.3	+	48	9283	c.9215G>A	c.(9214-9216)gGg>gAg	p.G3072E	DNAH9_ENST00000454412.2_Missense_Mutation_p.G3072E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3072	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		TTGGAGAACGGGCTGCTGAAG	0.552000													6	21					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117724340	117724340	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:117724340G>A	ENST00000368508.3	-	6	737	c.539C>T	c.(538-540)tCc>tTc	p.S180F	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S189F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	180	Fibronectin type-III 1.				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)		ACTTGGAGGGGAGTAGAGCTG	0.478000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								5	48					0	0	1	0	0
DDIT4L	115265	broad.mit.edu	37	4	101111092	101111092	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:101111092C>T	ENST00000273990.2	-	2	263	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	17					negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TCCAGCAATTCTGAAATGCTG	0.582000													9	63					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428970	57428970	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:57428970G>A	ENST00000371100.4	+	1	1202	c.650G>A	c.(649-651)aGc>aAc	p.S217N	GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.S217N|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.A154T|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.S217N|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGAGGCTACAGCCCTCCCCCT	0.642000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			5	13					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446683	226446683	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:226446683G>A	ENST00000272907.6	+	4	963	c.550G>A	c.(550-552)Gat>Aat	p.D184N	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	184																	ACCCCACAGCGATGAATATTC	0.413000													28	117					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:7578550G>A	ENST00000420246.2	-	5	512	c.380C>T	c.(379-381)tCc>tTc	p.S127F	TP53_ENST00000455263.2_Missense_Mutation_p.S127F|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F|TP53_ENST00000269305.4_Missense_Mutation_p.S127F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGGCAGGGGAGTACTGTAG	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	28					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121471527	121471527	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:121471527C>T	ENST00000257570.5	-	2	488	c.218G>A	c.(217-219)gGc>gAc	p.G73D	OASL_ENST00000339275.5_Missense_Mutation_p.G73D	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	73					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGAACCGTGCCATTCCCGAA	0.597000													10	92					0	0	1	0	0
CAMKK1	84254	broad.mit.edu	37	17	3773149	3773149	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:3773149G>A	ENST00000381771.2	-	14	1419	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	CAMKK1_ENST00000381769.2_Silent_p.I413I|CAMKK1_ENST00000158166.5_Silent_p.I424I|CAMKK1_ENST00000348335.2_Silent_p.I386I			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	386					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACATCTTCAGGATCAGGTCCT	0.582000													18	51					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12859274	12859274	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:12859274C>T	ENST00000456430.2	+	10	2884	c.2843C>T	c.(2842-2844)gCt>gTt	p.A948V	CAND2_ENST00000295989.5_Missense_Mutation_p.A855V	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	948					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGCGAGGGTGCTGAGGAGGGC	0.667000													8	95					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938637	2938637	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:2938637G>A	ENST00000378404.2	+	1	592	c.387G>A	c.(385-387)gaG>gaA	p.E129E		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	129						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCATGTTCGAGAACTTCGGCG	0.642000													13	36					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24774853	24774853	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:24774853G>A	ENST00000221166.5	+	3	2267	c.1485G>A	c.(1483-1485)aaG>aaA	p.K495K	NEFM_ENST00000437366.2_Silent_p.K495K|NEFM_ENST00000518131.1_Silent_p.K495K|NEFM_ENST00000433454.2_Silent_p.K119K|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	495	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		cagaagaaaaggaagaggaac	0.468000													3	14					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725508	87725508	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:87725508C>T	ENST00000305344.4	+	2	1159	c.456C>T	c.(454-456)ttC>ttT	p.F152F	HTR1E_ENST00000369584.1_Silent_p.F152F	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	152					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCTCCATTTTCATCTCCATGC	0.552000													10	77					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179444318	179444318	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179444318C>T	ENST00000589042.1	-	319	67830	c.67606G>A	c.(67606-67608)Gaa>Aaa	p.E22536K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E13471K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13596K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E20895K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13663K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19968K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20895	Fibronectin type-III 63.						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)			ACAGTGATTTCGCTTGGGGTT	0.428000													19	96					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62193672	62193672	+	Silent	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:62193672C>A	ENST00000467148.1	-	9	6435	c.6366G>T	c.(6364-6366)ctG>ctT	p.L2122L	HELZ2_ENST00000427522.2_Silent_p.L1553L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CAGGCCGGCCCAGTGCGATGC	0.677000													10	26					1.61879e-10	1.63767e-10	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55566428	55566428	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:55566428C>T	ENST00000373965.2	-	36	5360	c.4966G>A	c.(4966-4968)Gaa>Aaa	p.E1656K	PCDH15_ENST00000414778.1_Missense_Mutation_p.E1653K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)				CTATGAAATTCCAAAGCCTCC	0.448000										HNSCC(58;0.16)			14	93					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110499029	110499029	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110499029G>A	ENST00000378402.5	+	59	9963	c.9859G>A	c.(9859-9861)Gaa>Aaa	p.E3287K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3287					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCATTCACTGAAAATATGAT	0.368000										HNSCC(38;0.096)			19	162					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55242487	55242487	+	Missense_Mutation	SNP	C	C	T	rs121913438		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:55242487C>T	ENST00000275493.2	+	19	2434	c.2257C>T	c.(2257-2259)Ccg>Tcg	p.P753S	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.P708S|EGFR_ENST00000454757.2_Missense_Mutation_p.P700S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	753	Protein kinase.		Missing (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L747_P753>S(123)|p.S752_I759del(13)|p.T751_I759>N(8)|p.L747_P753>Q(7)|p.T751_I759>S(3)|p.T751_I759del(2)|p.A750_E758>P(2)|p.L747_K754del(2)|p.P753S(2)|p.E746_P753>VS(2)|p.E746_P753>IS(1)|p.L747_K754>ST(1)|p.L747_P753del(1)|p.A750_E758del(1)|p.T751_I759>REA(1)|p.P753_I759del(1)|p.A750_K754del(1)|p.E746_P753>LS(1)|p.T751_E758del(1)|p.L747_K754>N(1)|p.E746_P753>VQ(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCAACATCTCCGAAAGCCAA	0.483000	L747_P753>Q(HCC4006_LUNG)|P753S(SKMEL28_SKIN)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			9	49					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10127734	10127734	+	Splice_Site	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:10127734C>G	ENST00000591589.1	+	2	354	c.163_splice	c.e2-1	p.V55_splice	RDH8_ENST00000171214.1_Splice_Site_p.V35_splice			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	35					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)	GCCCCGCAGTCGTGGCCACCA	0.622000													5	12					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938643	2938643	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:2938643C>T	ENST00000378404.2	+	1	598	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	131						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCGAGAACTTCGGCGTGCCCG	0.632000													6	43					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325439	47325439	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:47325439G>A	ENST00000505841.1	-	0	1090					NR_002788.2																						TGTGGCGTAAGGCATCTGGCT	0.512000													22	94					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43038336	43038336	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:43038336G>A	ENST00000267890.6	-	15	3500	c.3392C>T	c.(3391-3393)cCa>cTa	p.P1131L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1131					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGGAGATCCTGGACTCTTGCA	0.537000													20	79					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834644	61834644	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:61834644C>T	ENST00000280772.1	-	37	6186	c.5995G>A	c.(5995-5997)Gaa>Aaa	p.E1999K	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)	1999					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						TGTCTGGCTTCCCGGATTTCT	0.448000													6	49					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579994	82579994	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82579994G>A	ENST00000423517.2	-	6	10247	c.9910C>T	c.(9910-9912)Cac>Tac	p.H3304Y	PCLO_ENST00000437081.1_Missense_Mutation_p.H24Y|PCLO_ENST00000333891.8_Missense_Mutation_p.H3304Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3235					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						AGCTGCTGGTGAAGCTGTTGT	0.493000													10	108					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237229	140237229	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140237229C>T	ENST00000307360.5	+	1	1596	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.F532F|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTACAGTTCCAGGTGAGCG	0.682000													13	63					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2578381	2578381	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:2578381G>A	ENST00000340611.4	-	14	2044	c.1788C>T	c.(1786-1788)ctC>ctT	p.L596L	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	596					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GGATGTGCAGGAGCTCCAGGA	0.672000													7	45					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6472805	6472805	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:6472805C>T	ENST00000263125.5	-	17	2031	c.1932G>A	c.(1930-1932)cgG>cgA	p.R644R	PRKCQ_ENST00000539722.1_Silent_p.R519R|PRKCQ_ENST00000397176.2_Silent_p.R581R	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	644	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CAATCTCCTTCCGTTCAAGTT	0.602000													10	53					0	0	1	0	0
SNURF	8926	broad.mit.edu	37	15	25207321	25207321	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:25207321C>T	ENST00000338094.6	+	2	136	c.75C>T	c.(73-75)gtC>gtT	p.V25V	SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000338327.4_Silent_p.V25V|SNRPN_ENST00000553597.1_3'UTR|SNURF_ENST00000577949.1_Silent_p.V25V|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000577565.1_5'UTR	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		AAGTCCAAGTCAAACGCAGAA	0.448000													7	47					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55862811	55862811	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:55862811C>T	ENST00000422046.2	-	2	406	c.125G>A	c.(124-126)gGa>gAa	p.G42E	CES1_ENST00000361503.4_Missense_Mutation_p.G42E|CES1_ENST00000360526.3_Missense_Mutation_p.G43E			P23141	EST1_HUMAN	carboxylesterase 1	42					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CTGTGCAAATCCTTCTAAGCT	0.562000													6	60					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552537	1552537	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:1552537G>A	ENST00000381605.4	-	3	644	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	194	Ig-like C1-type 1.				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						ACGTTGGTCTGGAAGTCTGAG	0.557000													14	85					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30831043	30831043	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:30831043C>T	ENST00000265299.6	+	5	1003	c.926C>T	c.(925-927)cCc>cTc	p.P309L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	309										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCGAGGGATCCCTCCGAGGAC	0.617000													11	58					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179732822	179732822	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179732822G>A	ENST00000420890.2	-	16	2622	c.2505C>T	c.(2503-2505)gcC>gcT	p.A835A	CCDC141_ENST00000295723.5_Silent_p.A260A	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	260	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGTCTACACGGGCTTGCTTTT	0.493000													10	45					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60908707	60908707	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:60908707G>A	ENST00000252999.3	-	24	3000	c.2934C>T	c.(2932-2934)atC>atT	p.I978I		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	978	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)	GGGGCACGGTGATGAAGGCAG	0.701000													3	6					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56676956	56676956	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:56676956G>A	ENST00000389934.3	-	14	1867	c.1750C>T	c.(1750-1752)Cca>Tca	p.P584S	TEX14_ENST00000349033.5_Missense_Mutation_p.P584S|TEX14_ENST00000240361.8_Missense_Mutation_p.P590S	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	590						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATCAGACATGGATCTGGGGCC	0.512000													9	61					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55420755	55420755	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55420755G>A	ENST00000594765.1	+	4	532	c.507G>A	c.(505-507)ggG>ggA	p.G169G	NCR1_ENST00000350790.5_Silent_p.G74G|NCR1_ENST00000598576.1_Silent_p.G157G|NCR1_ENST00000447255.1_Silent_p.G169G|NCR1_ENST00000291890.4_Silent_p.G169G|NCR1_ENST00000338835.5_Silent_p.G169G|NCR1_ENST00000357397.5_Silent_p.G62G			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	169	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GCGGATACGGGAAGGTCCAGG	0.572000													13	60					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153471384	153471384	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:153471384G>A	ENST00000288670.9	+	12	1449	c.1082G>A	c.(1081-1083)aGt>aAt	p.S361N		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	361	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CACACTGAGAGTGACAAGCTT	0.418000													10	45					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667021	157667021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:157667021C>T	ENST00000368184.3	-	6	1044	c.753G>A	c.(751-753)tgG>tgA	p.W251*	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Nonsense_Mutation_p.W251*	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	251	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGTCTTCAGTCCACATGGCAG	0.537000													9	67					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2595291	2595291	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:2595291C>T	ENST00000399655.1	+	6	1044	c.779C>T	c.(778-780)tCc>tTc	p.S260F	CACNA1C_ENST00000399603.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S260F|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000480911.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S260F|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S260F|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S260F|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S260F|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S260F|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S260F	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	260					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)	GTCCTGAATTCCATCATCAAG	0.562000													5	19					0	0	1	0	0
MIR520F	574464	broad.mit.edu	37	19	54185456	54185456	+	RNA	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:54185456G>T	ENST00000384824.1	+	0	44					NR_030186.1																						TCTGTGGTCAGAAAGAAAAGC	0.443000													11	49					4.68919e-08	4.73786e-08	1	1	0
TRIM32	22954	broad.mit.edu	37	9	119461141	119461141	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:119461141C>T	ENST00000450136.1	+	2	1281	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S	TRIM32_ENST00000373983.2_Missense_Mutation_p.P374S|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	374					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GTTCAATCTTCCAGTCAGTCT	0.493000													18	59					0	0	1	0	0
LEMD2	221496	broad.mit.edu	37	6	33744963	33744963	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:33744963A>G	ENST00000293760.5	-	7	1229	c.1210T>C	c.(1210-1212)Tta>Cta	p.L404L	LEMD2_ENST00000508327.1_Silent_p.L102L|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	404						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TCCTCTTCTAACTTTCGCCAC	0.493000													17	232					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331764	100331764	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:100331764G>A	ENST00000341853.1	-	0	2427					NR_003260.1																						ACAGGAGATAGAGGAGGACAT	0.627000													7	45					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768116	88768116	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:88768116C>T	ENST00000444431.1	+	0	2716				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										ACACAGTTTTCCACCGTGCAC	0.418000													8	62					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141734603	141734603	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141734603C>T	ENST00000475668.2	+	16	1975	c.1921C>T	c.(1921-1923)Cct>Tct	p.P641S	MGAM_ENST00000549489.2_Missense_Mutation_p.P641S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	641	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)	ATGGTCCATCCCTGGCGTGCT	0.507000													4	42					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175402	55175402	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55175402C>T	ENST00000391736.1	+	5	576	c.261C>T	c.(259-261)tcC>tcT	p.S87S	LILRB4_ENST00000430952.2_Silent_p.S87S|LILRB4_ENST00000391733.3_Silent_p.S87S|LILRB4_ENST00000270452.2_Silent_p.S87S|LILRB4_ENST00000391734.3_Silent_p.S87S	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	87	Ig-like C2-type 1.					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)		CCATCCCATCCATGACAGAGG	0.572000													19	228					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	123988454	123988454	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123988454G>A	ENST00000456829.2	+	4	369	c.118G>A	c.(118-120)Gag>Aag	p.E40K	VWA5A_ENST00000449321.1_Missense_Mutation_p.E40K|VWA5A_ENST00000392744.4_Missense_Mutation_p.E56K|VWA5A_ENST00000361352.5_Missense_Mutation_p.E40K|VWA5A_ENST00000360334.4_Missense_Mutation_p.E40K|VWA5A_ENST00000392748.1_Missense_Mutation_p.E40K	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	40	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TTTGAACTACGAGAATGAGGA	0.468000													4	72					0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36884104	36884104	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:36884104G>A	ENST00000392161.3	-	5	1380	c.1138C>T	c.(1138-1140)Cat>Tat	p.H380Y	ZFP82_ENST00000392171.1_Missense_Mutation_p.H380Y	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	380					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(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAATAAGATGATAACCACGG	0.393000													7	96					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754488	49754488	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:49754488T>A	ENST00000304801.3	-	1	565	c.413A>T	c.(412-414)aAg>aTg	p.K138M		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	138					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTAATCTTCTTTCCAGAGGG	0.512000													6	95					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813592	24813592	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:24813592C>T	ENST00000376451.2	+	8	2106	c.1846C>T	c.(1846-1848)Ccg>Tcg	p.P616S	KIAA1217_ENST00000307544.6_Missense_Mutation_p.P616S|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P898S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P898S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P933S|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P616S|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P616S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P853S			Q5T5P2	SKT_HUMAN	KIAA1217	933					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						GTCGCAGGCTCCGCAGTCCCC	0.582000													7	33					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42441990	42441990	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:42441990A>T	ENST00000397272.3	-	11	1071	c.980T>A	c.(979-981)tTt>tAt	p.F327Y	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.F327Y	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	327	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCTGTCCAGAAACTCCTGCTC	0.617000													7	71					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141325	143141325	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143141325C>T	ENST00000332690.1	+	1	780	c.780C>T	c.(778-780)ttC>ttT	p.F260F	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	260					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTCATATTTCCTGTCACTGG	0.493000													5	136					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74288615	74288615	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:74288615G>A	ENST00000262765.5	-	4	1874	c.1695C>T	c.(1693-1695)gtC>gtT	p.V565V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	565	Gln-rich.						protein binding	p.V565V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTCCAGGTTGGACCAAACCAT	0.527000													6	47					0	0	1	0	0
TMEM259	91304	broad.mit.edu	37	19	1014276	1014276	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:1014276G>A	ENST00000356663.3	-	2	543	c.422C>T	c.(421-423)gCc>gTc	p.A141V	TMEM259_ENST00000333175.5_Missense_Mutation_p.A141V	NM_001033026.1	NP_001028198.1			transmembrane protein 259																		TGGTTCCACGGCCAGGCCCGG	0.637000													8	70					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242149960	242149960	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:242149960C>T	ENST00000274979.8	+	15	1801	c.1698C>T	c.(1696-1698)tcC>tcT	p.S566S	ANO7_ENST00000402430.3_Silent_p.S565S	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	566						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TCTATGTATCCCTGGCCCACG	0.632000													6	54					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66457315	66457315	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:66457315C>T	ENST00000533211.1	-	29	6241	c.5910G>A	c.(5908-5910)ggG>ggA	p.G1970G	SPTBN2_ENST00000309996.2_Silent_p.G1970G|SPTBN2_ENST00000529997.1_Silent_p.G1970G			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1970					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCAGCTCCTTCCCCATGTCGA	0.617000													8	99					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88277458	88277458	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:88277458G>A	ENST00000298767.5	-	2	841	c.369C>T	c.(367-369)gtC>gtT	p.V123V		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	123	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGTCTTCAACGACCACATGAC	0.413000													5	65					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29474962	29474962	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:29474962G>A	ENST00000373795.4	-	6	1679	c.1445C>T	c.(1444-1446)tCg>tTg	p.S482L	SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	482	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TCGGGAGGGCGATCTGGAAGC	0.493000													12	78					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24349530	24349530	+	Missense_Mutation	SNP	C	C	T	rs61757471		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:24349530C>T	ENST00000175238.6	+	14	1554	c.1471C>T	c.(1471-1473)Cct>Tct	p.P491S	ADAM7_ENST00000520720.1_Missense_Mutation_p.P263S|RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.P491S	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	491	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAATGGATTTCCTTGCAAGAA	0.478000													15	75					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132527047	132527047	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:132527047G>A	ENST00000331898.7	-	2	913	c.335C>T	c.(334-336)cCg>cTg	p.P112L	OPCML_ENST00000374778.4_Missense_Mutation_p.P71L|OPCML_ENST00000541867.1_Missense_Mutation_p.P112L|OPCML_ENST00000524381.1_Missense_Mutation_p.P105L|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	112	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.P112L(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)		GCAGGTGTACGGACCTTCGTC	0.502000													4	71					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42569530	42569530	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:42569530C>T	ENST00000433647.1	+	7	1052	c.428C>T	c.(427-429)tCc>tTc	p.S143F	VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.S136F|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1_ENST00000325123.4_Missense_Mutation_p.S184F	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	184					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTCTTCATATCCTTCATCCTG	0.617000													18	107					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16258596	16258596	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16258596C>T	ENST00000375759.3	+	11	6065	c.5861C>T	c.(5860-5862)cCa>cTa	p.P1954L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1954					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAAGGCCTCCAAAGACACGC	0.607000													12	69					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165353981	165353981	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:165353981G>A	ENST00000263915.3	-	10	1662	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	GRB14_ENST00000543549.1_Missense_Mutation_p.S288F	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	375					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGCTACCAGGGAATTCTCTGA	0.363000													6	52					0	0	1	0	0
KRT16P6	353194	broad.mit.edu	37	17	16722888	16722888	+	RNA	SNP	C	C	T	rs150302546	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:16722888C>T	ENST00000417510.1	-	0	925																											CCAGGTGCATCGTCCATCTCC	0.562000													7	103					0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322760	5322760	+	Missense_Mutation	SNP	C	C	T	rs145655133		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5322760C>T	ENST00000380224.1	-	1	466	c.417G>A	c.(415-417)atG>atA	p.M139I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCTATGTTCATCACTCGGG	0.453000													18	86					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113599416	113599416	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:113599416G>A	ENST00000297405.5	-	23	4008	c.3764C>T	c.(3763-3765)cCa>cTa	p.P1255L	CSMD3_ENST00000352409.3_Missense_Mutation_p.P1255L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1215L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1151L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1255	CUB 7.					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						TGGATAATTTGGAGACAGCAA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	62					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175351	143175351	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143175351G>A	ENST00000408916.1	+	1	386	c.386G>A	c.(385-387)tGg>tAg	p.W129*	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	129					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TTCCCAGGGTGGGTGCCCTGG	0.483000													7	52					0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37619013	37619013	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:37619013C>T	ENST00000337995.3	+	5	1335	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	ZNF420_ENST00000304239.7_Missense_Mutation_p.R374C|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGCCTTTATCCGTGGCTCACA	0.428000													10	97					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713472	222713472	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:222713472C>T	ENST00000343410.6	-	4	1388	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	444					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGGCCCACGTCCCCACAGAAT	0.542000													7	68					0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61405046	61405046	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:61405046G>A	ENST00000496593.1	+	0	1650					NR_002775.2																						CCCAGCTAAGGATGAAGCCAA	0.547000													6	31					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233313571	233313571	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:233313571G>A	ENST00000258229.8	-	17	3484	c.3250C>T	c.(3250-3252)Ccc>Tcc	p.P1084S	PCNXL2_ENST00000488780.2_Missense_Mutation_p.P217S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1084						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATCTTCTTGGGGAGAGGGTCA	0.443000													5	33					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814720	137814720	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:137814720G>A	ENST00000409968.1	+	3	1048	c.870G>A	c.(868-870)tcG>tcA	p.S290S	THSD7B_ENST00000413152.2_Silent_p.S259S|THSD7B_ENST00000272643.3_Silent_p.S290S|THSD7B_ENST00000543459.1_Silent_p.S149S					thrombospondin, type I, domain containing 7B									p.S259S(1)|p.S290S(1)		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)		ATCATCATTCGAAGTCTTGGG	0.388000													7	50					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65871758	65871758	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:65871758C>T	ENST00000321892.4	+	5	2012	c.1951C>T	c.(1951-1953)Ccc>Tcc	p.P651S	BPTF_ENST00000335221.5_Missense_Mutation_p.P651S|BPTF_ENST00000424123.3_Missense_Mutation_p.P512S|BPTF_ENST00000306378.6_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	651	Interaction with KEAP1.				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)			AGAGACTAGTCCCTCTGAAGG	0.517000													13	40					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152359376	152359376	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:152359376C>T	ENST00000397345.3	-	167	24061	c.23859G>A	c.(23857-23859)ggG>ggA	p.G7953G	NEB_ENST00000172853.10_Silent_p.G6252G|NEB_ENST00000409198.1_Silent_p.G6252G|NEB_ENST00000498015.2_Intron|NEB_ENST00000603639.1_Silent_p.G7953G|NEB_ENST00000509223.2_Intron|NEB_ENST00000427231.2_Silent_p.G7953G|NEB_ENST00000604864.1_Silent_p.G7953G|NEB_ENST00000397336.2_5'UTR	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6252					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGATTCCTTTCCCCAAATTTT	0.413000													3	21					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242149041	242149041	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:242149041C>T	ENST00000274979.8	+	13	1615	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	ANO7_ENST00000402430.3_Silent_p.I503I	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	504						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTGTGGTGATCGTGGTGATGG	0.672000													5	49					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117962814	117962814	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:117962814C>T	ENST00000425217.1	-	14	2029	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	KSR2_ENST00000339824.5_Missense_Mutation_p.E688K|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.E385K	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	688					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGGCCACCTCGCCATGCCAG	0.597000													3	29					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399728	10399728	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10399728C>T	ENST00000226207.5	-	34	4889	c.4795G>A	c.(4795-4797)Gag>Aag	p.E1599K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1599						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGCATGGACTCCACGATTCTA	0.443000													26	123					0	0	1	0	0
STK40	83931	broad.mit.edu	37	1	36807398	36807398	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:36807398G>A	ENST00000373129.3	-	12	1672	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	STK40_ENST00000373132.3_Silent_p.S422S|STK40_ENST00000359297.2_3'UTR|STK40_ENST00000373130.3_Silent_p.S427S	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	422						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				CCGTGTCCAAGGAGGTCATGG	0.672000													14	99					0	0	1	0	0
IGKJ4	28947	broad.mit.edu	37	2	89160426	89160426	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:89160426G>A	ENST00000452230.1	-	0	39				IGKJ4_ENST00000390239.2_RNA|AC096579.7_ENST00000430694.1_RNA																							TCCCTCCGCCGAAAGTGAGCC	0.418000													6	76					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043561	20043561	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20043561G>A	ENST00000570682.1	-	2	858	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	186						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGAAGCAGTGGATCCAGATGA	0.507000													5	49					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72184056	72184056	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:72184056C>T	ENST00000340726.3	-	10	1542	c.903G>A	c.(901-903)ggG>ggA	p.G301G	EYA1_ENST00000388740.3_Silent_p.G268G|EYA1_ENST00000303824.7_Silent_p.G295G|EYA1_ENST00000388741.2_Silent_p.G267G|EYA1_ENST00000388743.2_Silent_p.G300G|EYA1_ENST00000419131.1_Silent_p.G296G|EYA1_ENST00000388742.4_Silent_p.G301G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	301					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CACGTGATTTCCCATCTGAAC	0.468000													18	168					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182554563	182554563	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:182554563A>G	ENST00000367559.3	-	2	1632	c.1379T>C	c.(1378-1380)tTt>tCt	p.F460S	RNASEL_ENST00000539397.1_Missense_Mutation_p.F460S|RNASEL_ENST00000444138.1_Missense_Mutation_p.F460S	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	460	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						ATTTCGGGCAAATTCATCTTC	0.458000													4	55					0	0	1	0	0
PARVA	55742	broad.mit.edu	37	11	12518125	12518125	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:12518125G>T	ENST00000334956.8	+	5	984	c.641G>T	c.(640-642)aGc>aTc	p.S214I	PARVA_ENST00000538608.1_Missense_Mutation_p.S121I|PARVA_ENST00000550549.1_Missense_Mutation_p.S174I|PARVA_ENST00000539723.1_Missense_Mutation_p.S174I	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN	parvin, alpha	174					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		CCTCCCAGGAGCATCAAGTGG	0.493000													3	17					0.00909568	0.00912245	1	1	0
ESPL1	9700	broad.mit.edu	37	12	53673625	53673625	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53673625C>T	ENST00000257934.4	+	12	2565	c.2474C>T	c.(2473-2475)aCc>aTc	p.T825I	ESPL1_ENST00000552462.1_Missense_Mutation_p.T825I	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	825					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTCCTCCTGACCCTCGGCTGT	0.622000													12	100					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458370	248458370	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248458370C>T	ENST00000317996.1	-	1	510	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E171K(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGATCGATCTCGTGTGCACCG	0.562000													15	76					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53889421	53889421	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:53889421C>T	ENST00000396328.1	-	18	3242	c.3003G>A	c.(3001-3003)atG>atA	p.M1001I	WDR72_ENST00000557913.1_Missense_Mutation_p.M998I|WDR72_ENST00000360509.5_Missense_Mutation_p.M1001I|WDR72_ENST00000559418.1_Missense_Mutation_p.M1011I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1001										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CCAAACTCTTCATGTGTTGTT	0.393000													23	125					0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82101834	82101834	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:82101834G>A	ENST00000199936.4	+	2	518	c.325G>A	c.(325-327)Gta>Ata	p.V109I	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	109					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GGGCTTCACGGTATTTGCCGG	0.547000													6	39					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579641	58579641	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:58579641G>A	ENST00000506786.1	+	5	2217	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.E597K|ZNF135_ENST00000313434.5_Missense_Mutation_p.E597K|ZNF135_ENST00000511556.1_Missense_Mutation_p.E609K|ZNF135_ENST00000401053.4_Missense_Mutation_p.E621K			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	609					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGCCAGCACGAAAGGACGCA	0.552000													5	90					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46766267	46766267	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:46766267C>T	ENST00000394809.4	-	4	1430	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	MYLK3_ENST00000536476.1_Missense_Mutation_p.E98K	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	439					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCCCCAACCTCGTGGTCATTG	0.672000													27	115					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973661	10973661	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:10973661G>A	ENST00000304623.8	-	22	3771	c.3582C>T	c.(3580-3582)acC>acT	p.T1194T	CTNND2_ENST00000511377.1_Silent_p.T1103T|CTNND2_ENST00000458100.2_Silent_p.T761T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.T1136T|CTNND2_ENST00000503622.1_Silent_p.T857T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1194					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CGTAGTTGCCGGTGGACTTGA	0.567000													19	73					0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579407	49579407	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:49579407G>A	ENST00000301071.7	-	4	1086	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	TUBA1A_ENST00000295766.5_Silent_p.L248L|TUBA1A_ENST00000546918.1_3'UTR|TUBA1A_ENST00000550767.1_Silent_p.L213L	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	248					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TCAACATTCAGGGCTCCATCA	0.488000													12	82					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841798	8841798	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:8841798G>A	ENST00000324060.2	+	1	483	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGTACTTATGAGACGCCAGG	0.552000													12	84					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878443	5878443	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5878443G>A	ENST00000537935.1	-	1	521	c.490C>T	c.(490-492)Cca>Tca	p.P164S	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	164					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)		AACACCAGTGGAACAACCATG	0.522000													6	131					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327067	16327067	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:16327067A>T	ENST00000244769.4	-	8	2411	c.1475T>A	c.(1474-1476)aTc>aAc	p.I492N	ATXN1_ENST00000436367.1_Missense_Mutation_p.I492N	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	492					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCCGACCGGGATGAGCAGGGG	0.667000													37	214					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209308124	209308124	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:209308124C>T	ENST00000272847.2	+	6	774	c.561C>T	c.(559-561)ttC>ttT	p.F187F	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	187						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTGTGTCTTTCATGCTGAGAG	0.383000													11	49					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89421777	89421777	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:89421777G>A	ENST00000532352.1	+	0	1447							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATCTGGAAATGATTTTGAGGT	0.318000													12	79					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835116	172835116	+	Missense_Mutation	SNP	G	G	A	rs144595913		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:172835116G>A	ENST00000351008.3	-	2	589	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	136					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AACTCATAGCGAACACCCATT	0.418000													9	82					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131219668	131219668	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:131219668C>T	ENST00000298542.4	-	7	761	c.586G>A	c.(586-588)Gat>Aat	p.D196N	FRMD7_ENST00000464296.1_Missense_Mutation_p.D181N|FRMD7_ENST00000370879.1_Missense_Mutation_p.D76N	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	196	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CCTTCACCATCACTGGCGGGG	0.512000													28	78					0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75938063	75938063	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:75938063C>A	ENST00000307428.7	+	2	684	c.472C>A	c.(472-474)Ccc>Acc	p.P158T	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	158					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCTCATCACCCTCATCCCT	0.587000													37	156					1.47244e-24	1.49184e-24	1	1	0
ATP1A3	478	broad.mit.edu	37	19	42474436	42474436	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42474436C>T	ENST00000545399.1	-	18	2635	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	ATP1A3_ENST00000602133.1_Missense_Mutation_p.E785K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E826K|ATP1A3_ENST00000302102.5_Missense_Mutation_p.E815K	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	815					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCGGCAGCCTCGTACGCCAGT	0.637000													7	33					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672621	141672621	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141672621G>A	ENST00000547270.1	-	1	952	c.869C>T	c.(868-870)cCc>cTc	p.P290L		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	290					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)					ATGCCCAGAGGGACAAGCTGC	0.532000													4	53					0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580598	77580598	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:77580598A>T	ENST00000361786.2	+	4	1454	c.1137A>T	c.(1135-1137)ttA>ttT	p.L379F	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	379										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AGGCATCTTTAACACCTGGGT	0.498000													15	47					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528900	20528900	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20528900C>T	ENST00000315683.1	+	1	697	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATCACATGGGCTCTCCAAGGC	0.453000													9	81					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38805727	38805727	+	Missense_Mutation	SNP	G	G	A	rs151175737	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:38805727G>A	ENST00000359357.3	+	31	3978	c.3724G>A	c.(3724-3726)Gat>Aat	p.D1242N	DNAH8_ENST00000441566.1_Missense_Mutation_p.D1242N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D1459N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGCCAGTTTCGATGATCTGTG	0.323000													4	41					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107257	14107257	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:14107257C>T	ENST00000235372.7	+	8	3823	c.2967C>T	c.(2965-2967)ctC>ctT	p.L989L	PRDM2_ENST00000311066.5_Silent_p.L989L|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Silent_p.L788L|PRDM2_ENST00000343137.4_Silent_p.L788L|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	989	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCCCTCCCCTCCTTCCTACCG	0.597000													5	121					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304077	115304077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:115304077C>T	ENST00000371906.4	+	3	734	c.544C>T	c.(544-546)Cga>Tga	p.R182*		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	182					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						ATTTTATTTTCGAGACGTCAG	0.428000													29	93					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100226930	100226930	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:100226930G>A	ENST00000524871.1	+	25	3572	c.3282G>A	c.(3280-3282)atG>atA	p.M1094I	CNTN5_ENST00000418526.2_Missense_Mutation_p.M1020I|CNTN5_ENST00000279463.3_Missense_Mutation_p.M1094I|CNTN5_ENST00000528682.1_Missense_Mutation_p.M1094I|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1094			M -> V (in dbSNP:rs35208161).		cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGCATTGATGATTCCTTCAA	0.428000													4	12					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347399	71347399	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:71347399C>T	ENST00000413702.1	+	4	1226	c.938C>T	c.(937-939)tCt>tTt	p.S313F	MUC7_ENST00000456088.1_Missense_Mutation_p.S313F|MUC7_ENST00000304887.5_Missense_Mutation_p.S313F	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	313	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)			ACACCTAATTCTTCCCCAACT	0.512000													21	118					0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43565573	43565573	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:43565573C>T	ENST00000372236.4	+	5	926	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	POLH_ENST00000535400.1_Nonsense_Mutation_p.Q149*|POLH_ENST00000372226.1_Nonsense_Mutation_p.Q211*	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	211	UmuC.				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GACTGGTTTTCAGTGTTCAGC	0.448000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				4	109					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64529494	64529494	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:64529494A>G	ENST00000358025.3	+	50	10323	c.10093A>G	c.(10093-10095)Aga>Gga	p.R3365G	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.R3365G|SYNE2_ENST00000554584.1_Missense_Mutation_p.R3398G	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3365					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAAATGCTATAGAAAAATGGA	0.333000													3	27					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669559	53669559	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:53669559C>T	ENST00000396424.3	-	4	273	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	ZNF665_ENST00000600412.1_5'UTR	NM_024733.3	NP_079009.3	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTGTTCTTCCCCTTTGGTGGC	0.383000													15	244					0	0	1	0	0
CEP95	90799	broad.mit.edu	37	17	62518864	62518864	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:62518864G>A	ENST00000556440.2	+	8	1270	c.760G>A	c.(760-762)Ggg>Agg	p.G254R	CEP95_ENST00000553412.1_Missense_Mutation_p.G90R	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	254						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						TAGGAAGCTAGGGGAGCCTAT	0.443000													13	57					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134112	128134112	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:128134112C>T	ENST00000368250.1	-	5	1935	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	THEMIS_ENST00000368248.2_Silent_p.P558P|THEMIS_ENST00000543064.1_Silent_p.P558P|THEMIS_ENST00000537166.1_Silent_p.P523P			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	558	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGGGGTGTTTCGGAGGGCGAG	0.483000													8	110					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558451	140558451	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140558451C>T	ENST00000239444.2	+	1	1081	c.836C>T	c.(835-837)tCc>tTc	p.S279F		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		279	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S279F(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGAGATTTCCTATTCACTT	0.413000													12	105					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96581895	96581895	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:96581895A>G	ENST00000456556.1	-	37	2456	c.2372T>C	c.(2371-2373)tTg>tCg	p.L791S	ANKRD36C_ENST00000420871.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR|ANKRD36C_ENST00000419039.2_5'UTR					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						CATTACCTTCAAGGCTGGTTT	0.343000													5	21					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434129	179434129	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179434129C>T	ENST00000589042.1	-	326	76954	c.76730G>A	c.(76729-76731)gGa>gAa	p.G25577E	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16512E|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16637E|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23936E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16704E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23009E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23936	Fibronectin type-III 86.						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)			CGTATATTTTCCACTATCATA	0.428000													12	65					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404087	197404087	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:197404087G>A	ENST00000367397.1	+	5	2095	c.1237G>A	c.(1237-1239)Ggc>Agc	p.G413S	CRB1_ENST00000535699.1_Missense_Mutation_p.G1008S|CRB1_ENST00000367400.3_Missense_Mutation_p.G1032S|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.G513S|CRB1_ENST00000367399.2_Missense_Mutation_p.G920S			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1032	EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTGAATGATGGCACATGGCA	0.438000													7	74					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87053293	87053293	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:87053293C>T	ENST00000265723.4	-	17	2251	c.2140G>A	c.(2140-2142)Gga>Aga	p.G714R	ABCB4_ENST00000545634.1_Missense_Mutation_p.G714R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G714R|ABCB4_ENST00000359206.3_Missense_Mutation_p.G714R|ABCB4_ENST00000358400.3_Missense_Mutation_p.G714R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	714	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.G714R(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CATACTGTTCCCACGACAAAG	0.453000													15	115					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132554083	132554083	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:132554083T>C	ENST00000333577.4	+	52	9135	c.9026T>C	c.(9025-9027)gTt>gCt	p.V3009A	EP400_ENST00000389561.2_Missense_Mutation_p.V2973A|EP400_ENST00000389562.2_Missense_Mutation_p.V2972A|EP400_ENST00000332482.4_Missense_Mutation_p.V2936A|EP400_ENST00000330386.6_Missense_Mutation_p.V2892A			Q96L91	EP400_HUMAN	E1A binding protein p400	3009					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		CAGCAGAAGGTTGCCTACGCC	0.637000													28	108					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170783981	170783981	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:170783981C>T	ENST00000436636.2	-	32	4338	c.3994G>A	c.(3994-3996)Gat>Aat	p.D1332N	TNIK_ENST00000538048.1_Missense_Mutation_p.D1284N|TNIK_ENST00000369326.5_Missense_Mutation_p.D1310N|TNIK_ENST00000341852.6_Missense_Mutation_p.D1248N|TNIK_ENST00000488470.1_Missense_Mutation_p.D1277N|TNIK_ENST00000284483.8_Missense_Mutation_p.D1324N|TNIK_ENST00000475336.1_Missense_Mutation_p.D1240N|TNIK_ENST00000470834.1_Missense_Mutation_p.D1295N|TNIK_ENST00000460047.1_Missense_Mutation_p.D1269N|TNIK_ENST00000357327.5_Missense_Mutation_p.D1303N	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1332	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTTACCTTATCATTTCTTTCA	0.368000													11	66					0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102781284	102781284	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:102781284G>A	ENST00000410023.1	+	4	430	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	IL1R1_ENST00000409329.1_Missense_Mutation_p.E38K|IL1R1_ENST00000233946.3_Missense_Mutation_p.E38K|IL1R1_ENST00000409589.1_Missense_Mutation_p.E38K|IL1R1_ENST00000424272.1_Missense_Mutation_p.E38K|IL1R1_ENST00000409929.1_Missense_Mutation_p.E38K|IL1R1_ENST00000409288.1_Missense_Mutation_p.E38K			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	38	Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ATCTGCAAATGAAATTGATGT	0.363000													4	48					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833639	168833639	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:168833639C>T	ENST00000464456.1	-	7	2657	c.1457G>A	c.(1456-1458)gGt>gAt	p.G486D	MECOM_ENST00000494292.1_Missense_Mutation_p.G674D|MECOM_ENST00000460814.1_Missense_Mutation_p.G486D|MECOM_ENST00000392736.3_Missense_Mutation_p.G486D|MECOM_ENST00000264674.3_Missense_Mutation_p.G551D|MECOM_ENST00000472280.1_Missense_Mutation_p.G487D|MECOM_ENST00000468789.1_Missense_Mutation_p.G486D|MECOM_ENST00000433243.2_Missense_Mutation_p.G487D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCCTGTTGAACCAAAGTATTT	0.428000													19	94					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12776226	12776226	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:12776226G>A	ENST00000456935.2	-	3	416	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	MAN2B1_ENST00000221363.4_Missense_Mutation_p.R126C|CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.R123C	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	126					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCCACCAACGGGAGAAGAAG	0.587000													16	118					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33475395	33475395	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:33475395G>A	ENST00000265371.4	-	15	2609	c.2084C>T	c.(2083-2085)tCc>tTc	p.S695F	NRP1_ENST00000374867.2_Missense_Mutation_p.S695F|NRP1_ENST00000395995.1_Missense_Mutation_p.S695F			O14786	NRP1_HUMAN	neuropilin 1	695	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GTCAGCTTGGGAATAGATGAA	0.478000													9	87					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606699	21606699	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:21606699C>T	ENST00000392288.2	+	4	1347	c.1238C>T	c.(1237-1239)gCt>gTt	p.A413V	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.A285V	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	285					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						TGTGGCAAAGCTTATAAGGAG	0.363000													4	46					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894405	123894405	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123894405C>T	ENST00000375024.1	+	1	686	c.686C>T	c.(685-687)aCc>aTc	p.T229I		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CGGATCCACACCTCAGAGGGG	0.527000													5	78					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137784	63137784	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:63137784G>A	ENST00000279178.3	+	1	505	c.256G>A	c.(256-258)Gag>Aag	p.E86K	SLC22A9_ENST00000310969.4_Missense_Mutation_p.E86K	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	86					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CATGAGGCCAGAGAAGTGTCG	0.537000													6	82					0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72610103	72610103	+	Missense_Mutation	SNP	C	C	T	rs147195509		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:72610103C>T	ENST00000392619.1	-	3	574	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	CD300E_ENST00000426295.2_Missense_Mutation_p.R194Q|CD300E_ENST00000328630.3_Missense_Mutation_p.R153Q	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	153						integral to membrane|plasma membrane	receptor activity	p.R153Q(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTGAGGTTTCGCCCAGGGTT	0.587000													7	20					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582810	82582810	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82582810G>A	ENST00000423517.2	-	5	7796	c.7459C>T	c.(7459-7461)Cct>Tct	p.P2487S	PCLO_ENST00000333891.8_Missense_Mutation_p.P2487S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2418					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						GGCTTAGGAGGAACAGGAGGA	0.468000													6	62					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228128547	228128547	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:228128547G>A	ENST00000396578.3	+	21	1364	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	401	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGCCTGAAAGGAAGTAAAGGG	0.522000													7	36					0	0	1	0	0
GNAT2	2780	broad.mit.edu	37	1	110149038	110149038	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:110149038C>T	ENST00000351050.3	-	5	668	c.482G>A	c.(481-483)cGa>cAa	p.R161Q		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	161					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity	p.R161Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		GTCTGTAATTCGTTCTAATTG	0.433000													16	83					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51462492	51462492	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51462492C>A	ENST00000376851.3	-	6	1102	c.663G>T	c.(661-663)aaG>aaT	p.K221N	KLK6_ENST00000594641.1_Missense_Mutation_p.K221N|KLK6_ENST00000456750.2_Missense_Mutation_p.K114N|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Missense_Mutation_p.R93M|KLK6_ENST00000310157.2_Missense_Mutation_p.K221N|KLK6_ENST00000391808.1_Missense_Mutation_p.K114N	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	221	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	p.K221K(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CTGGCTTCTCCTTTGATCCAC	0.537000													11	94					9.70103e-10	9.80795e-10	1	1	0
NLRP8	126205	broad.mit.edu	37	19	56466719	56466719	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56466719C>T	ENST00000291971.3	+	3	1366	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F	NLRP8_ENST00000590542.1_Missense_Mutation_p.S432F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	432	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGGTATATTTCTAGCTTGTTT	0.498000													9	78					0	0	1	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31975337	31975337	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:31975337A>C	ENST00000357886.4	-	6	700	c.547T>G	c.(547-549)Tgc>Ggc	p.C183G	CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.C183G|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.C183G|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.C183G|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.C93G			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	183	MTTase N-terminal.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TCAGCCATGCAGCCTGGAAGG	0.488000													13	80					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188432	7188432	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:7188432C>T	ENST00000542285.1	-	11	1515	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K				P00736	C1R_HUMAN	complement component 1, r subcomponent	508					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCTTCGTGTTCCTTGGGATAC	0.612000													11	35					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33026409	33026409	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:33026409C>T	ENST00000374864.4	+	8	865	c.652C>T	c.(652-654)Cca>Tca	p.P218S	ITCH_ENST00000535650.1_Missense_Mutation_p.P108S|ITCH_ENST00000262650.6_Missense_Mutation_p.P259S	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	259					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ACCTTCACGACCACCACCACC	0.463000													15	86					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021659	51021659	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51021659C>T	ENST00000599957.1	-	3	1508	c.1311G>A	c.(1309-1311)atG>atA	p.M437I	LRRC4B_ENST00000389201.3_Missense_Mutation_p.M437I			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	437	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGTTCGTCACCATGCACGTGT	0.701000													18	56					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62125254	62125254	+	Silent	SNP	G	G	A	rs61745997		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:62125254G>A	ENST00000433197.2	-	19	2588	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	831	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGCTCCAGAAGAACGGGTGTT	0.433000													12	48					0	0	1	0	0
C21orf58	54058	broad.mit.edu	37	21	47731394	47731394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:47731394G>A	ENST00000291691.7	-	6	1833	c.697C>T	c.(697-699)Caa>Taa	p.Q233*	C21orf58_ENST00000397680.1_Nonsense_Mutation_p.Q127*|C21orf58_ENST00000397679.1_Nonsense_Mutation_p.Q127*|C21orf58_ENST00000397682.3_Nonsense_Mutation_p.Q127*|C21orf58_ENST00000397683.1_Nonsense_Mutation_p.Q127*|C21orf58_ENST00000472607.1_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	233										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		CCTGACCGTTGAGTAGGGAAG	0.498000													3	13					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63069907	63069907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:63069907C>T	ENST00000332793.6	+	7	1179	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	393						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTCATAGTTCGATGTCTTGC	0.433000													17	54					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44351606	44351606	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:44351606C>T	ENST00000324461.7	+	7	1150	c.853C>T	c.(853-855)Cac>Tac	p.H285Y	ZNF283_ENST00000588797.1_Missense_Mutation_p.H146Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGAGAGAATTCACACTGGTGA	0.423000													5	41					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43111200	43111200	+	Missense_Mutation	SNP	C	C	T	rs148120569		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:43111200C>T	ENST00000230419.4	+	14	2314	c.2093C>T	c.(2092-2094)cCc>cTc	p.P698L	PTK7_ENST00000345201.2_Missense_Mutation_p.P658L|PTK7_ENST00000481273.1_Missense_Mutation_p.P706L|PTK7_ENST00000352931.2_Missense_Mutation_p.P642L|PTK7_ENST00000349241.2_Missense_Mutation_p.P568L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	698					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCCCTCCCCCCTACAAGATG	0.602000											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	75					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41012731	41012731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:41012731C>T	ENST00000399564.4	-	30	3539	c.3089G>A	c.(3088-3090)tGg>tAg	p.W1030*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.W585*	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGTGATCATCCATATGCCACA	0.453000													13	46					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944314	55944314	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55944314C>T	ENST00000312298.1	+	1	221	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCCTGCTATTCATCTGCAATT	0.443000													15	117					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83411176	83411176	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:83411176G>A	ENST00000262752.2	-	3	172	c.165C>T	c.(163-165)atC>atT	p.I55I	RPS6KA6_ENST00000543399.1_Silent_p.I55I	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	55					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GAGTAATAGGGATTTCTTTAA	0.363000													4	6					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408224	2408224	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:2408224G>A	ENST00000381223.4	-	2	740	c.537C>T	c.(535-537)gcC>gcT	p.A179A	ZBED1_ENST00000381218.3_Silent_p.A179A|ZBED1_ENST00000381222.2_Silent_p.A179A|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	179						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	p.A179A(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTCCCGGACGGCCCCGTACT	0.627000													28	155					0	0	1	0	0
VWA1	64856	broad.mit.edu	37	1	1374462	1374462	+	Splice_Site	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:1374462C>G	ENST00000476993.1	+	3	711	c.631_splice	c.e3-1	p.D211_splice	VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_5'UTR	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	211	Fibronectin type-III 1.|VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		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)		CACCCACAGACGCGATGCGGC	0.677000													6	30					0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919180	142919180	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142919180G>A	ENST00000595842.1	-	1	180	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	TAS2R40_ENST00000408947.3_Silent_p.T3T																							GAATGGCAACGGTGAACACAG	0.468000													5	89					0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95575786	95575786	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:95575786C>T	ENST00000317968.4	+	10	1595	c.1459C>T	c.(1459-1461)Ctt>Ttt	p.L487F	PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000542407.1_Missense_Mutation_p.L365F|PDLIM5_ENST00000514743.1_Missense_Mutation_p.L516F|PDLIM5_ENST00000437932.1_Missense_Mutation_p.L378F	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	487	LIM zinc-binding 2.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AAGGAAGATCCTTGGAGTAAG	0.353000													7	75					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103431072	103431072	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:103431072G>A	ENST00000358392.2	-	38	3240	c.2923C>T	c.(2923-2925)Cct>Tct	p.P975S	COL11A1_ENST00000370096.3_Missense_Mutation_p.P963S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P847S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P924S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	963	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGCCCAGGAGGGCCGGTC	0.393000													17	125					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532010	84532010	+	RNA	SNP	T	T	C	rs515305		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:84532010T>C	ENST00000527857.1	+	0	2032					NR_026851.1																						TCAGAAAGTCTTTCAAGGTCC	0.458000													6	42					0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72717689	72717689	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:72717689G>A	ENST00000428206.1	-	9	1093	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	NSUN5_ENST00000252594.6_Silent_p.F398F|NSUN5_ENST00000438747.2_Silent_p.F398F|NSUN5_ENST00000310326.8_Silent_p.F398F	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	398							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CGGCACCCGGGAACGTGCTCA	0.647000													5	30					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327786	67327786	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:67327786G>A	ENST00000304372.5	-	12	1934	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	627						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GTGGCGGGAGGGTCTTTGGTT	0.527000													12	127					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64434839	64434839	+	Missense_Mutation	SNP	C	C	T	rs139806166		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:64434839C>T	ENST00000265459.6	-	9	2142	c.1681G>A	c.(1681-1683)Ggc>Agc	p.G561S	NRXN2_ENST00000409571.1_Missense_Mutation_p.G554S|NRXN2_ENST00000377551.1_Missense_Mutation_p.G561S|NRXN2_ENST00000377559.3_Missense_Mutation_p.G530S	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	561	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TAGAGGTGGCCGTCCAATAGC	0.632000													29	111					0	0	1	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967373	106967373	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:106967373G>A	ENST00000390622.2	-	0	350																											GGACACAGTAGAGAATGACAG	0.567000													10	56					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68696535	68696535	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:68696535G>A	ENST00000303145.7	-	12	1923	c.1837C>T	c.(1837-1839)Ctt>Ttt	p.L613F	MDM1_ENST00000411698.2_Missense_Mutation_p.L578F|MDM1_ENST00000540418.1_Missense_Mutation_p.L333F	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	613						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GAAACTGGAAGAGTTGCCTCA	0.453000													7	97					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781738	128781738	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:128781738C>T	ENST00000529694.1	+	2	946	c.570C>T	c.(568-570)atC>atT	p.I190I	KCNJ5_ENST00000338350.4_Silent_p.I190I|KCNJ5_ENST00000533599.1_Silent_p.I190I	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	190					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TTGTCAAGATCAGCCAGCCCA	0.557000													20	102					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179514562	179514562	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179514562C>T	ENST00000589042.1	-	211	40101	c.39877G>A	c.(39877-39879)Gaa>Aaa	p.E13293K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E11786K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10859K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11642	Ig-like 88.						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)			GGCGGTGCTTCTGGTTTTTTG	0.348000													6	84					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	130005589	130005589	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:130005589C>T	ENST00000263574.5	+	13	1888	c.1816C>T	c.(1816-1818)Cca>Tca	p.P606S	APLP2_ENST00000338167.5_Missense_Mutation_p.P606S|APLP2_ENST00000278756.7_Missense_Mutation_p.P616S|APLP2_ENST00000543137.1_Missense_Mutation_p.P513S|APLP2_ENST00000539648.1_Missense_Mutation_p.P394S|APLP2_ENST00000345598.5_Missense_Mutation_p.P377S|APLP2_ENST00000528499.1_Missense_Mutation_p.P550S	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	606					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CCACCCCTTCCCAGCCCTACC	0.567000													4	60					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142000804	142000804	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142000804C>T	ENST00000455382.2	+	0	58																											AGGCCTCATTCCTGCTGTGAT	0.512000													4	40					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24784106	24784106	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:24784106G>A	ENST00000376451.2	+	3	1124	c.864G>A	c.(862-864)agG>agA	p.R288R	KIAA1217_ENST00000307544.6_Silent_p.R288R|KIAA1217_ENST00000376452.3_Silent_p.R570R|KIAA1217_ENST00000458595.1_Silent_p.R570R|KIAA1217_ENST00000376454.3_Silent_p.R605R|KIAA1217_ENST00000430453.2_Silent_p.R491R|KIAA1217_ENST00000396445.1_Silent_p.R288R|KIAA1217_ENST00000396446.1_Silent_p.R288R|KIAA1217_ENST00000376462.1_Silent_p.R525R			Q5T5P2	SKT_HUMAN	KIAA1217	605					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						CAGCCAACAGGAACCACACAG	0.423000													12	63					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024407	76024407	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:76024407C>T	ENST00000393004.2	-	5	1362	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	FILIP1_ENST00000370020.1_Missense_Mutation_p.E282K|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.E381K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	381										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						CGAAGATTTTCCACTTCTGCC	0.418000													14	113					0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170448	58170448	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:58170448G>A	ENST00000309403.2	-	1	434	c.435C>T	c.(433-435)ggC>ggT	p.G145G		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGAGGTAGGAGCCTATGGCCA	0.483000													11	86					0	0	1	0	0
LSP1	4046	broad.mit.edu	37	11	1904668	1904668	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:1904668G>A	ENST00000406638.2	+	4	1492	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	LSP1_ENST00000405957.2_Missense_Mutation_p.E64K|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.E126K|LSP1_ENST00000381775.1_Missense_Mutation_p.E254K	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	126					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.E64K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GCATGCCTACGAAAAGGAGGA	0.592000													5	44					0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13260476	13260476	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:13260476C>T	ENST00000262487.3	+	3	580	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	192						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CTTCCTCAACCCCCCCAGGGG	0.557000													9	54					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784574	30784574	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:30784574A>G	ENST00000246229.4	-	3	1436	c.1172T>C	c.(1171-1173)cTa>cCa	p.L391P		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	391						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCTTCATCTAGGAGGGCCGC	0.612000													5	32					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82475933	82475933	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82475933G>A	ENST00000423517.2	-	12	14118	c.13781C>T	c.(13780-13782)tCa>tTa	p.S4594L	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.S4594L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4482	C2 1.				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						TTCAGAATCTGATAGCATATT	0.323000													3	7					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212570074	212570074	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:212570074C>T	ENST00000342788.4	-	10	1477	c.1167G>A	c.(1165-1167)ctG>ctA	p.L389L	ERBB4_ENST00000402597.1_Silent_p.L389L|ERBB4_ENST00000436443.1_Silent_p.L389L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	389					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GAAAGACGTTCAGTTTCTCTG	0.323000										TSP Lung(8;0.080)			7	86					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120470978	120470978	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:120470978C>T	ENST00000355622.6	+	2	332	c.231C>T	c.(229-231)ttC>ttT	p.F77F	TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Silent_p.F37F	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	77					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TCTTCAGTTTCCCAGAACTGC	0.448000													24	109					0	0	1	0	0
LOC101929950	101929950	broad.mit.edu	37	17	36358858	36358858	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:36358858C>T	ENST00000312412.4	-	6	832	c.833G>A	c.(832-834)gGa>gAa	p.G278E	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.G123E																kidney(1)|lung(3)	4						TGCAAATTTTCCTTGTTCTGC	0.398000													12	255					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502478	20502478	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20502478G>A	ENST00000315693.2	-	1	441	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S147F(1)		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)		TGCATAGGAGGATAACAGTAG	0.463000													26	100					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3322174	3322174	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:3322174A>C	ENST00000378398.3	+	9	1233	c.1151A>C	c.(1150-1152)cAg>cCg	p.Q384P	PRDM16_ENST00000442529.2_Missense_Mutation_p.Q383P|PRDM16_ENST00000441472.2_Missense_Mutation_p.Q383P|PRDM16_ENST00000270722.5_Missense_Mutation_p.Q383P|PRDM16_ENST00000514189.1_Missense_Mutation_p.Q384P|PRDM16_ENST00000511072.1_Missense_Mutation_p.Q384P|PRDM16_ENST00000378391.2_Missense_Mutation_p.Q383P|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	383					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCCTCAAGCAGCACAAGCAT	0.687000			T	EVI1	"""MDS, AML"""								24	83					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876469	35876469	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:35876469C>T	ENST00000303115.3	+	8	1390	c.1261C>T	c.(1261-1263)Ctc>Ttc	p.L421F	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	421					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)			TCCATTTTCTCTCCAATCTGG	0.517000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						10	38					0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31763353	31763353	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:31763353C>T	ENST00000253362.2	+	5	697	c.551C>T	c.(550-552)tCc>tTc	p.S184F	BPIFA2_ENST00000354932.5_Missense_Mutation_p.S184F			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	184						extracellular region	lipid binding										ATCTCACTTTCCTTGCTGGAC	0.532000													5	91					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148055079	148055079	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:148055079G>A	ENST00000370460.2	+	16	3825	c.3346G>A	c.(3346-3348)Gac>Aac	p.D1116N	AFF2_ENST00000286437.5_Missense_Mutation_p.D757N|AFF2_ENST00000342251.3_Missense_Mutation_p.D1083N|AFF2_ENST00000370457.5_Missense_Mutation_p.D1081N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1116					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CATGGAACGCGACCCTCTGGA	0.483000													16	37					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45216730	45216730	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:45216730G>A	ENST00000279027.4	-	8	1107	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	SLC13A3_ENST00000413164.2_Silent_p.F313F|SLC13A3_ENST00000396360.1_Intron|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000464518.1_5'UTR|SLC13A3_ENST00000290317.5_Silent_p.F316F|SLC13A3_ENST00000495082.1_Silent_p.F316F|SLC13A3_ENST00000372121.1_Silent_p.F313F|SLC13A3_ENST00000472148.1_Intron	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	363						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGCCAGGGATGAACTTCGGGT	0.587000													10	44					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21818690	21818690	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:21818690G>A	ENST00000328843.6	+	58	9503	c.9472G>A	c.(9472-9474)Gaa>Aaa	p.E3158K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E3151K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3158	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTGAGCCGGGAAAAGACCAT	0.483000									Kartagener syndrome				5	28					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616639	77616639	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:77616639C>T	ENST00000521891.2	+	2	764	c.316C>T	c.(316-318)Cct>Tct	p.P106S	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P106S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P106S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P106S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	106						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			TGCCCGCCTTCCTGTCCTGAA	0.502000										HNSCC(33;0.089)			17	136					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50731657	50731657	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:50731657G>A	ENST00000442544.2	+	10	2261	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	DCC_ENST00000412726.1_Missense_Mutation_p.E397K|DCC_ENST00000581580.1_Missense_Mutation_p.E204K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	549	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TATTACCTGGGAACCCCCTGC	0.448000													23	199					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117075079	117075079	+	Translation_Start_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:117075079G>A	ENST00000303745.7	+	0	123				ATRNL1_ENST00000355044.3_Missense_Mutation_p.G957E|ATRNL1_ENST00000423111.2_Missense_Mutation_p.G54E			Q5VV63	ATRN1_HUMAN	attractin-like 1							integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GAACAGCCTGGATGTGGCTGG	0.428000													11	46					0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74884979	74884979	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:74884979G>A	ENST00000357877.2	+	4	506		c.e4-1		SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F						cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CTGACCCCCAGGACGAATGTC	0.498000													8	98					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42154391	42154391	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:42154391C>T	ENST00000401548.3	+	18	2014	c.1974C>T	c.(1972-1974)ctC>ctT	p.L658L	MEI1_ENST00000540833.1_Silent_p.L398L|MEI1_ENST00000400107.1_Silent_p.L26L|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	658							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGTCTGAGCTCCTGCAGCATG	0.522000													4	39					0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483635	59483635	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:59483635G>A	ENST00000312828.3	-	2	1161	c.62C>T	c.(61-63)cCc>cTc	p.P21L		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	21					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CCTGCGCCGGGGGCTGTAGTA	0.597000													18	83					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75505560	75505560	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:75505560G>A	ENST00000502798.2	+	4	1203		c.e4-1		SV2C_ENST00000322285.7_Splice_Site	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C						neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCTCTTGGCAGGATTGGAGGA	0.517000													8	73					0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118203962	118203962	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:118203962C>T	ENST00000369230.3	+	4	539	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	131					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GGGAATACATCCATGCTGTAA	0.318000													14	64					0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197627492	197627492	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:197627492G>A	ENST00000235453.4	-	7	551	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	DENND1B_ENST00000400967.2_Missense_Mutation_p.P92S|DENND1B_ENST00000367396.3_Missense_Mutation_p.P102S			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	102	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TCAAACCAGGGAAGGTAACTG	0.269000													12	65					0	0	1	0	0
SNX16	64089	broad.mit.edu	37	8	82752065	82752065	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:82752065T>C	ENST00000396330.2	-	3	663	c.157A>G	c.(157-159)Aaa>Gaa	p.K53E	SNX16_ENST00000345957.4_Missense_Mutation_p.K53E|SNX16_ENST00000353788.4_Missense_Mutation_p.K53E	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	53					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						CTTGTCTGTTTAAAATTACCC	0.368000													9	71					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104463987	104463987	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:104463987G>A	ENST00000413579.1	-	5	1000	c.889C>T	c.(889-891)Cct>Tct	p.P297S	IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Silent_p.S297S|TEX13A_ENST00000372575.1_Silent_p.S297S			Q9BXU3	TX13A_HUMAN	testis expressed 13A	297						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TATGAGGCAGGGAGCTGGACA	0.532000													12	28					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68312409	68312409	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:68312409C>T	ENST00000393799.2	+	4	598	c.331C>T	c.(331-333)Cta>Tta	p.L111L	PPP6R3_ENST00000393800.2_Silent_p.L111L|PPP6R3_ENST00000524904.1_Silent_p.L111L|PPP6R3_ENST00000524845.1_Silent_p.L111L|PPP6R3_ENST00000534534.1_Silent_p.L20L|PPP6R3_ENST00000527403.2_Silent_p.L111L|PPP6R3_ENST00000529710.1_Silent_p.L111L|PPP6R3_ENST00000393801.3_Silent_p.L111L|PPP6R3_ENST00000265637.4_Silent_p.L111L|PPP6R3_ENST00000265636.5_Silent_p.L111L			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	111					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						TAGCTTCCTCCTAAACGATTC	0.383000													6	59					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106184786	106184786	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:106184786G>A	ENST00000355610.4	-	17	3011	c.2737C>T	c.(2737-2739)Cgt>Tgt	p.R913C	MORC4_ENST00000535534.1_Missense_Mutation_p.S648L|MORC4_ENST00000255495.7_Missense_Mutation_p.S900L	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	913							ATP binding|zinc ion binding	p.R736C(1)|p.R913C(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CCGATCTCACGAAGCTCCAAG	0.522000													6	26					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181707532	181707532	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:181707532G>A	ENST00000526775.1	+	23	3690	c.3525G>A	c.(3523-3525)acG>acA	p.T1175T	CACNA1E_ENST00000367567.4_Silent_p.T801T|CACNA1E_ENST00000357570.5_Silent_p.T1145T|CACNA1E_ENST00000358338.5_Silent_p.T1126T|CACNA1E_ENST00000367573.2_Silent_p.T1194T|CACNA1E_ENST00000360108.3_Silent_p.T1175T|CACNA1E_ENST00000367570.1_Silent_p.T1194T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1194					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T1194T(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGTGTTCACGGGCGTGTTCA	0.473000													40	173					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18823030	18823030	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:18823030G>A	ENST00000396576.2	+	10	1416	c.915G>A	c.(913-915)agG>agA	p.R305R	CACNB2_ENST00000324631.7_Silent_p.R360R|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Silent_p.R312R|CACNB2_ENST00000352115.6_Silent_p.R336R|CACNB2_ENST00000282343.8_Silent_p.R332R|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377329.4_Silent_p.R306R|CACNB2_ENST00000377331.2_Silent_p.R308R|CACNB2_ENST00000377319.3_Silent_p.R267R	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	360					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAATCGAAAGGATTTTTGAAC	0.383000													12	46					0	0	1	0	0
ZNF444	55311	broad.mit.edu	37	19	56669966	56669966	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56669966C>T	ENST00000337080.3	+	4	768	c.401C>T	c.(400-402)cCc>cTc	p.P134L	ZNF444_ENST00000592171.1_3'UTR|ZNF444_ENST00000592949.1_Missense_Mutation_p.P134L	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	134					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GGGATGATTCCCTTAGGTGAG	0.657000													4	33					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94815880	94815880	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:94815880C>T	ENST00000453321.3	+	22	2348	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	TMEM67_ENST00000409623.3_Nonsense_Mutation_p.R683*	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	764					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AGATAAAATTCGACAGTTCGT	0.308000													4	33					0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206820811	206820811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:206820811C>T	ENST00000367106.1	+	4	681	c.208C>T	c.(208-210)Caa>Taa	p.Q70*	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Nonsense_Mutation_p.Q70*|DYRK3_ENST00000367109.2_Nonsense_Mutation_p.Q90*			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	90					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ACAGCTGTTTCAAGAATTTGG	0.388000													10	114					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114171665	114171665	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:114171665T>C	ENST00000393081.1	+	11	1183	c.876T>C	c.(874-876)gcT>gcC	p.A292A	ACSL5_ENST00000369410.3_Silent_p.A74A|ACSL5_ENST00000433418.1_Silent_p.A292A|ACSL5_ENST00000354273.4_Silent_p.A292A|ACSL5_ENST00000354655.4_Silent_p.A292A|ACSL5_ENST00000356116.1_Silent_p.A348A	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	292					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CATAGCATGCTTATGAGCCCA	0.458000													16	93					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86591027	86591027	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:86591027C>T	ENST00000370571.2	-	3	1358	c.992G>A	c.(991-993)gGg>gAg	p.G331E	COL24A1_ENST00000436319.1_Missense_Mutation_p.G331E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	331					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGCCTGAATCCCATGGTTTGT	0.413000													8	57					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429121	135429121	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:135429121C>T	ENST00000394143.1	+	6	3547	c.3256C>T	c.(3256-3258)Cgt>Tgt	p.R1086C	GPR112_ENST00000287534.4_Missense_Mutation_p.R1023C|GPR112_ENST00000394141.1_Missense_Mutation_p.R881C|GPR112_ENST00000412101.1_Missense_Mutation_p.R881C|GPR112_ENST00000370652.1_Missense_Mutation_p.R1086C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1086					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)					AGACTTGATTCGTACCACTTC	0.463000													27	152					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168509	142168509	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142168509C>T	ENST00000454561.2	-	0	414																											CCATTCTCTTCCTCCCTATAA	0.512000													30	64					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989305	53989305	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:53989305G>A	ENST00000514921.1	+	3	367	c.254G>A	c.(253-255)gGg>gAg	p.G85E	MLIP_ENST00000358276.5_Missense_Mutation_p.G79E|MLIP_ENST00000370876.2_Missense_Mutation_p.G23E|MLIP_ENST00000502396.1_Missense_Mutation_p.G96E|MLIP_ENST00000274897.5_Missense_Mutation_p.G85E|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Missense_Mutation_p.G33E|MLIP_ENST00000509997.1_Missense_Mutation_p.G33E			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	85						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TTGAATGCTGGGAGCCAACAA	0.383000													8	63					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55976879	55976879	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:55976879C>T	ENST00000263923.4	-	8	1328	c.1033G>A	c.(1033-1035)Ggg>Agg	p.G345R		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	345	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ACACGCTCCCCCACCGTGGCT	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			11	74					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924330	188924330	+	Missense_Mutation	SNP	G	G	A	rs141008020		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:188924330G>A	ENST00000326866.4	+	4	777	c.369G>A	c.(367-369)atG>atA	p.M123I	ZFP42_ENST00000509524.1_Missense_Mutation_p.M123I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	123					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGGAATACATGAAAAAAGGGG	0.408000													22	72					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832996	130832996	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:130832996C>T	ENST00000357462.5	-	15	2142	c.2049G>A	c.(2047-2049)gtG>gtA	p.V683V	POTEF_ENST00000360967.5_3'UTR|POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000409914.2_Silent_p.V683V			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	683						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						TCCTTTTTTTCACACTTTCAA	0.413000													9	25					0	0	1	0	0
STYXL1	51657	broad.mit.edu	37	7	75643075	75643075	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:75643075G>A	ENST00000451157.1	-	5	607	c.438C>T	c.(436-438)atC>atT	p.I146I	STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000248600.1_Silent_p.I146I|STYXL1_ENST00000431581.1_Silent_p.I146I|STYXL1_ENST00000359697.3_Silent_p.I146I|STYXL1_ENST00000360591.3_Intron|STYXL1_ENST00000340062.5_Intron			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	146					intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GCATCCAGATGATCTTCTGGG	0.587000													76	302					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204811	9204811	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9204811G>A	ENST00000429566.3	+	1	957	c.891G>A	c.(889-891)ctG>ctA	p.L297L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACAGAGACCTGAAAGGGGCTC	0.517000													9	42					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566234	155566234	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:155566234C>T	ENST00000295101.2	+	2	1299	c.822C>T	c.(820-822)atC>atT	p.I274I	KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	274					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GCCACGTGATCGATGCCAAAA	0.473000													18	53					0	0	1	0	0
DLD	1738	broad.mit.edu	37	7	107545939	107545939	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:107545939C>T	ENST00000205402.5	+	7	853	c.572C>T	c.(571-573)cCt>cTt	p.P191L	DLD_ENST00000437604.2_Intron|DLD_ENST00000440410.1_Missense_Mutation_p.P168L|DLD_ENST00000537148.1_Missense_Mutation_p.P92L	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	191					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	ACTCCTTTTCCTGGAATCACG	0.353000													10	74					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131666102	131666102	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:131666102C>T	ENST00000368648.3	-	9	901	c.829G>A	c.(829-831)Gac>Aac	p.D277N	EBF3_ENST00000355311.5_Missense_Mutation_p.D286N	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	286	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AAGAAGTTGTCGCCAATTATG	0.567000													4	56					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427198	38427198	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38427198C>T	ENST00000322350.5	+	14	2244	c.1898C>T	c.(1897-1899)tCc>tTc	p.S633F	EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S399F|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000354891.3_Missense_Mutation_p.S633F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	633	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CATTACCTTTCCTTCATGGAA	0.488000													8	119					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70885930	70885930	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:70885930G>A	ENST00000333538.5	+	5	1435	c.801G>A	c.(799-801)cgG>cgA	p.R267R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	267						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGGAAAACCGGAAGCGTGTGA	0.547000													17	195					0	0	1	0	0
DEFB125	245938	broad.mit.edu	37	20	76685	76685	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:76685G>A	ENST00000382410.2	+	2	98	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	33					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			AATAATGTAGGACATTGCAGA	0.328000													15	77					0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617711	100617711	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:100617711G>A	ENST00000267294.4	-	2	2145	c.1912C>T	c.(1912-1914)Cct>Tct	p.P638S		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	638					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGCTGGAAGGGGTGTGGAGG	0.517000													6	133					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58155425	58155425	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:58155425C>T	ENST00000295956.4	+	45	7691	c.7526C>T	c.(7525-7527)tCc>tTc	p.S2509F	FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000493452.1_Missense_Mutation_p.S2316F|FLNB_ENST00000490882.1_Missense_Mutation_p.S2540F|FLNB_ENST00000429972.2_Missense_Mutation_p.S2498F|FLNB_ENST00000419752.2_Missense_Mutation_p.S2329F|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000358537.3_Missense_Mutation_p.S2485F|FLNB_ENST00000348383.5_Missense_Mutation_p.S2468F|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2509	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCAAGGCATCCTCGGACGCC	0.582000													12	57					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115845	168115845	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:168115845G>A	ENST00000409728.1	+	11	2977	c.2888G>A	c.(2887-2889)aGa>aAa	p.R963K	XIRP2_ENST00000409756.2_Missense_Mutation_p.R930K|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.R930K|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.R708K|XIRP2_ENST00000420519.1_Missense_Mutation_p.R963K	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						CAGATTAAAAGAAACAGGTGC	0.423000													6	41					0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457559	124457559	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:124457559C>T	ENST00000329446.4	-	3	729	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	233										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)				TGTGTTTTTTCCCTCTGCCTC	0.363000													9	33					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528839	20528839	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20528839C>T	ENST00000315683.1	+	1	636	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCTGTTTCATCCTCTTGCTTG	0.458000													19	115					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144288522	144288522	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:144288522G>A	ENST00000549981.1	-	9	867	c.144C>T	c.(142-144)ctC>ctT	p.L48L	TPK1_ENST00000538212.2_Intron|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000360057.3_Silent_p.L165L|TPK1_ENST00000378099.3_Intron			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	165					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TCACTGGTTGGAGCAGGTAGA	0.423000													8	145					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14851568	14851568	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:14851568C>T	ENST00000380881.4	-	7	1684	c.869G>A	c.(868-870)gGa>gAa	p.G290E	FREM1_ENST00000422223.2_Missense_Mutation_p.G289E|FREM1_ENST00000380880.3_Missense_Mutation_p.G289E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	289					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATTCGGAATTCCAGCTCTGAT	0.428000													11	77					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55523813	55523813	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55523813C>T	ENST00000305377.5	+	1	349	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F87F(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTATTTTTTCCTAGGCAATC	0.383000													12	144					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45010263	45010263	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:45010263G>A	ENST00000258787.7	-	9	1281	c.1145C>T	c.(1144-1146)cCt>cTt	p.P382L		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	382	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						ATCACGCCGAGGATCCCGGCC	0.597000													9	85					0	0	1	0	0
MT4	84560	broad.mit.edu	37	16	56599043	56599043	+	Translation_Start_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:56599043G>A	ENST00000219162.3	+	1	83	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	1						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						CCTGGACCATGGACCCCAGGG	0.602000													6	69					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463349	179463349	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179463349C>T	ENST00000589042.1	-	292	57219	c.56995G>A	c.(56995-56997)Gat>Aat	p.D18999N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D9934N|TTN_ENST00000359218.5_Missense_Mutation_p.D10059N|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D17358N|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10126N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D16431N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17358	Fibronectin type-III 37.						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)			TTAGTCCAATCTGTCACTTTG	0.408000													7	28					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003249	122003249	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:122003249C>T	ENST00000498619.1	+	7	2916	c.2478C>T	c.(2476-2478)atC>atT	p.I826I	CASR_ENST00000296154.5_Silent_p.I816I|CASR_ENST00000490131.1_Silent_p.I816I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	816					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTTCTTCATCGTCTGGATCT	0.522000													12	79					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378093	19378093	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:19378093G>A	ENST00000550708.1	+	1	572	c.500G>A	c.(499-501)gGa>gAa	p.G167E		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGTTTGTGGATTTCTGTGG	0.488000													7	350					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15354213	15354213	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15354213G>A	ENST00000263377.2	-	14	2888	c.2667C>T	c.(2665-2667)gcC>gcT	p.A889A		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	889					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)			CTGGTGACACGGCTGGGGGCC	0.677000			T	C15orf55	lethal midline carcinoma of young people								3	8					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125824732	125824732	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:125824732C>T	ENST00000393434.2	-	22	2839	c.2490G>A	c.(2488-2490)acG>acA	p.T830T	ALDH1L1_ENST00000273450.3_Silent_p.T840T|ALDH1L1_ENST00000472186.1_Silent_p.T830T|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Silent_p.T729T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	830	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGCCAAATTCCGTGGCATTGG	0.572000													19	63					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28409221	28409221	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:28409221C>T	ENST00000337532.5	-	11	1065	c.789G>A	c.(787-789)caG>caA	p.Q263Q	MPP7_ENST00000445954.2_Silent_p.Q138Q|MPP7_ENST00000375719.3_Silent_p.Q263Q|MPP7_ENST00000540098.1_Silent_p.Q263Q|MPP7_ENST00000375732.1_Silent_p.Q263Q	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	263	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GGCTCATAATCTGAAGAATAT	0.443000													10	77					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168233541	168233541	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:168233541G>A	ENST00000519560.1	-	9	1264	c.845C>T	c.(844-846)tCg>tTg	p.S282L	SLIT3_ENST00000404867.3_Missense_Mutation_p.S282L|SLIT3_ENST00000332966.8_Missense_Mutation_p.S282L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	282	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGTGCAGGGCGAAGGGCAGGA	0.572000													5	88					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	180056521	180056521	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:180056521G>A	ENST00000428443.3	-	2	364	c.48C>T	c.(46-48)ttC>ttT	p.F16F	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	16	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TACCTGAAAGGAAGGCTAGTT	0.299000													3	33					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896790	175896790	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:175896790G>A	ENST00000359240.3	+	5	784	c.114G>A	c.(112-114)agG>agA	p.R38R	ADAM29_ENST00000514159.1_Silent_p.R38R|ADAM29_ENST00000445694.1_Silent_p.R38R|ADAM29_ENST00000404450.4_Silent_p.R38R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	38					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCCTGTGAGGATAACTGGCA	0.532000													10	37					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247920898	247920898	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:247920898C>T	ENST00000408896.2	-	1	1084	c.811G>A	c.(811-813)Gac>Aac	p.D271N		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	271					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)			GACAGAGTGTCGCTCTCAGGC	0.498000													9	47					0	0	1	0	0
RAMP1	10267	broad.mit.edu	37	2	238820347	238820347	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:238820347C>T	ENST00000254661.4	+	3	501	c.369C>T	c.(367-369)atC>atT	p.I123I	RAMP1_ENST00000404910.2_Silent_p.I101I|RAMP1_ENST00000403885.1_Silent_p.I101I|RAMP1_ENST00000409726.1_Silent_p.I101I	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	123					intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|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;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	ACCCCTTCATCGTGGTCCCCA	0.672000													3	35					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51834628	51834628	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:51834628G>A	ENST00000251076.5	-	9	1294	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	DMXL2_ENST00000449909.3_Missense_Mutation_p.P336L|DMXL2_ENST00000543779.2_Missense_Mutation_p.P336L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	336						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)		TGTCTGGTCGGGCATTAATTC	0.398000													3	41					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151138714	151138714	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151138714G>A	ENST00000370325.1	-	2	270	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.R73C			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	73					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R73G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGGATGCGAGAGGCTTCT	0.547000													29	99					0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1494984	1494984	+	Silent	SNP	G	G	A	rs145500943		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:1494984G>A	ENST00000283415.3	-	3	456	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	108					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AGCCGCCGGCGAACCACATGG	0.677000													3	24					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119510835	119510835	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:119510835G>A	ENST00000368468.3	-	10	1981	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	514					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.R514*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCACATGTTCGATTATATGAT	0.453000													14	93					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100411642	100411642	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100411642C>T	ENST00000358173.3	-	9	2058	c.1588_splice	c.e9-1	p.E530_splice	EPHB4_ENST00000360620.3_Splice_Site_p.E530_splice|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	530					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)					AGCCCTCGCTCTCTGCGGAAG	0.607000													4	96					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944963	144944963	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:144944963G>A	ENST00000525985.1	-	2	2530	c.2459C>T	c.(2458-2460)tCc>tTc	p.S820F				P58107	EPIPL_HUMAN	epiplakin 1	820						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)			ATACTTCACGGAGAGCAGCAG	0.652000													4	26					0	0	1	0	0
LCE1D	353134	broad.mit.edu	37	1	152770310	152770310	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152770310C>T	ENST00000326233.6	+	2	83	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	14	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCCCCctcccaagtgcac	0.612000													15	29					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224890	42224890	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42224890C>T	ENST00000221992.6	+	8	1934	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S607L|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S606L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	607	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		p.S607L(2)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCTTACCTTTCGGGAGCGAAC	0.547000													24	157					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100231927	100231927	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:100231927C>T	ENST00000305046.8	-	8	1165	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G	ADH1B_ENST00000394887.3_Silent_p.G326G			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	366					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCTACCTTTTCCCAGAGTGAA	0.338000													6	50					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48646833	48646833	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:48646833C>T	ENST00000263274.7	-	11	1300	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	LIG1_ENST00000536218.1_Missense_Mutation_p.R226Q|LIG1_ENST00000427526.2_Missense_Mutation_p.R263Q	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	294					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTCAAACGTCCGGGCCACAGC	0.597000								Nucleotide excision repair (NER)					14	82					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648153	130648153	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:130648153G>A	ENST00000539839.1	+	1	1150	c.568G>A	c.(568-570)Gga>Aga	p.G190R	FZD10_ENST00000229030.4_Silent_p.E222E	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGAGCCGCGAGGACAAGCGCT	0.687000													6	47					0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39597622	39597622	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:39597622C>T	ENST00000331256.5	+	12	1423	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		383						extracellular region	acid phosphatase activity|metal ion binding										TTGCTGTCTTCCCGAGGCCCT	0.642000													8	44					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814156	106814156	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:106814156C>T	ENST00000407775.2	+	8	2096	c.1846C>T	c.(1846-1848)Cct>Tct	p.P616S	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P484S|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P484S|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P347S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	616					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.P616A(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTCTGCTGATCCTGAGAATCC	0.453000													8	76					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117632191	117632191	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:117632191G>A	ENST00000368508.3	-	39	6423	c.6225C>T	c.(6223-6225)ttC>ttT	p.F2075F	ROS1_ENST00000368507.3_Silent_p.F2069F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2075	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.F2075F(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)		ACCTGTGAATGAAATGCATCC	0.378000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								6	54					0	0	1	0	0
CCDC25	55246	broad.mit.edu	37	8	27605730	27605730	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:27605730C>T	ENST00000356537.4	-	7	508	c.415G>A	c.(415-417)Gag>Aag	p.E139K	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000539095.1_Missense_Mutation_p.E71K|CCDC25_ENST00000522915.1_Missense_Mutation_p.E71K	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	139										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		GGGAACCGCTCGACTTTGGTC	0.393000													6	48					0	0	1	0	0
CYP3A5	1577	broad.mit.edu	37	7	99270202	99270202	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99270202C>T	ENST00000339843.2	-	5	939		c.e5+1		CYP3A5_ENST00000343703.5_Splice_Site|CYP3A5_ENST00000480723.1_Splice_Site|CYP3A5_ENST00000439761.1_Splice_Site|CYP3A5_ENST00000222982.4_Splice_Site					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					TGGATGCTTACCCTTCGATTT	0.338000													29	96					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848661	166848661	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:166848661C>T	ENST00000423058.2	-	26	5141	c.5124G>A	c.(5122-5124)gaG>gaA	p.E1708E	SCN1A_ENST00000375405.3_Silent_p.E1697E|SCN1A_ENST00000303395.4_Silent_p.E1708E|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.E1680E	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1708						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGCCAAAGGTCTCAAAGTTGA	0.468000													27	177					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906093	129906093	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:129906093C>T	ENST00000368654.3	-	13	4386	c.4011G>A	c.(4009-4011)aaG>aaA	p.K1337K	MKI67_ENST00000368653.3_Silent_p.K977K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1337	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGGCCTCTTCCTTAGGAGTTT	0.493000													29	131					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053200	17053200	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:17053200C>T	ENST00000418129.2	+	2	2449	c.1984C>T	c.(1984-1986)Cat>Tat	p.H662Y	PLCL2_ENST00000432376.1_Missense_Mutation_p.H662Y|PLCL2_ENST00000396755.2_Missense_Mutation_p.H662Y	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	788	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGTTGAAATCCATGGAATCCC	0.418000													3	25					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62299369	62299369	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:62299369G>A	ENST00000371158.2	+	17	2138	c.2024G>A	c.(2023-2025)gGg>gAg	p.G675E	INADL_ENST00000316485.6_Missense_Mutation_p.G675E	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	675					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATGATGATGGGGAATTAGCA	0.363000													4	56					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813961	123813961	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123813961C>T	ENST00000321252.2	-	1	619	c.585G>A	c.(583-585)ctG>ctA	p.L195L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCACCAGTTTCAGCAGGTGGG	0.547000													10	44					0	0	1	0	0
IL17RE	132014	broad.mit.edu	37	3	9953126	9953126	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:9953126G>A	ENST00000454190.2	+	12	1157		c.e12-1		IL17RE_ENST00000383814.3_Splice_Site|IL17RE_ENST00000295980.3_Splice_Site|IL17RE_ENST00000421412.1_Splice_Site	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E							cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GCCCCAAACAGGGTCTCTCAC	0.537000													13	121					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51828912	51828912	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:51828912G>A	ENST00000251076.5	-	12	2052	c.1765C>T	c.(1765-1767)Cct>Tct	p.P589S	DMXL2_ENST00000449909.3_Missense_Mutation_p.P589S|DMXL2_ENST00000543779.2_Missense_Mutation_p.P589S	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	589						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)		GATCCGTGAGGACTGCCTACA	0.418000													11	69					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97051774	97051774	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:97051774G>A	ENST00000524981.3	+	4	568	c.568G>A	c.(568-570)Gat>Aat	p.D190N				Q6ZTY8	CL063_HUMAN		164										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AAATGTGGTTGATTTGAAATG	0.358000													12	100					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38910715	38910715	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:38910715G>A	ENST00000312150.4	-	2	495	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	145	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TGGTGGATGCGATGATCTAGA	0.368000													5	83					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103364547	103364547	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:103364547G>A	ENST00000358392.2	-	55	4443	c.4126C>T	c.(4126-4128)Cct>Tct	p.P1376S	COL11A1_ENST00000370096.3_Missense_Mutation_p.P1364S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1248S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1325S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1364	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCTCCAGGAGGACCCTATAGA	0.279000													4	38					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40013305	40013305	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:40013305G>A	ENST00000308666.3	-	1	248	c.113C>T	c.(112-114)cCc>cTc	p.P38L		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	38	Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GCCAATGATGGGATAGAGGGT	0.517000													9	76					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123987921	123987921	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:123987921G>A	ENST00000360013.3	+	5	909	c.782G>A	c.(781-783)gGc>gAc	p.G261D	KALRN_ENST00000240874.3_Missense_Mutation_p.G261D|KALRN_ENST00000460856.1_Missense_Mutation_p.G261D	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	261					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGCAGCGACGGCTTCTCAGGA	0.632000													6	22					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175355304	175355304	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:175355304C>T	ENST00000367674.1	-	8	2349	c.1641G>A	c.(1639-1641)agG>agA	p.R547R	TNR_ENST00000263525.2_Silent_p.R547R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	547	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGAAGGTGGTCCTCCCACCTT	0.597000													4	48					0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41166046	41166046	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:41166046C>T	ENST00000483722.1	-	2	362	c.177G>A	c.(175-177)agG>agA	p.R59R		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	59	Ig-like V-type.			R -> K (in Ref. 3; BAB14668).	T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACTTCTTCTTCCTGATTTTGC	0.552000													9	173					0	0	1	0	0
PRAMEF20	645425	broad.mit.edu	37	1	13743021	13743021	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:13743021G>A	ENST00000316412.5	+	2	309	c.210G>A	c.(208-210)atG>atA	p.M70I	PRAMEF20_ENST00000602960.1_Missense_Mutation_p.M70I	NM_001099852.1	NP_001093322.1	Q5VT98	PRA20_HUMAN	PRAME family member 20	70										endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCTCTGATGAAAAGGCCTT	0.597000													6	46					0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27145504	27145504	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:27145504G>A	ENST00000305364.4	-	6	1128	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	349	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GAGAAGACACGGGAGCCCAGC	0.687000													8	53					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147024544	147024544	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:147024544C>T	ENST00000265272.5	-	6	1419	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E276K|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E318K	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	318						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCGGTTTCCCGCACACGT	0.493000													12	56					0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119631622	119631622	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:119631622G>A	ENST00000264235.8	-	6	1626	c.644C>T	c.(643-645)tCg>tTg	p.S215L	GSK3B_ENST00000316626.5_Missense_Mutation_p.S215L	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	215	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)	ACAGATATACGAAACATTGGG	0.348000													5	40					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2944669	2944669	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:2944669C>T	ENST00000520002.1	-	50	7982	c.7427G>A	c.(7426-7428)cGa>cAa	p.R2476Q	CSMD1_ENST00000602723.1_Missense_Mutation_p.R2476Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2475Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.R2476Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2475Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2476Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2476	Sushi 14.					integral to membrane		p.R2204P(1)|p.R2204Q(1)|p.R2475P(1)|p.R2475Q(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTGGGTTTCGTCTACAGGT	0.507000													4	36					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063387	9063387	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9063387G>A	ENST00000397910.4	-	3	24262	c.24059C>T	c.(24058-24060)tCa>tTa	p.S8020L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8022	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						TACAGGTTCTGAGCTTTTGTG	0.463000													5	70					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15756159	15756159	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:15756159T>A	ENST00000399451.2	-	9	1278	c.911A>T	c.(910-912)aAa>aTa	p.K304I	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.K337I	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	304						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TTTCCCATCTTTACTCTGGGG	0.358000													4	22					0	0	1	0	0
C2orf83	56918	broad.mit.edu	37	2	228476231	228476231	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:228476231G>A	ENST00000264387.4	-	3	418	c.332C>T	c.(331-333)tCc>tTc	p.S111F	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	111						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						GGCAGTGCTGGAGAGAGTTTC	0.532000													4	71					0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62159581	62159581	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:62159581C>T	ENST00000415229.2	+	7	967	c.752C>T	c.(751-753)tCg>tTg	p.S251L	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Missense_Mutation_p.S251L	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	251					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GCGGACCTATCGTTGGGTTAT	0.478000											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	61					0	0	1	0	0
MRPL35	51318	broad.mit.edu	37	2	86434390	86434390	+	Silent	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:86434390C>G	ENST00000337109.4	+	3	352	c.318C>G	c.(316-318)acC>acG	p.T106T	MRPL35_ENST00000254644.8_Silent_p.T106T|MRPL35_ENST00000409180.1_Silent_p.T106T|MRPL35_ENST00000605125.1_Intron	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	106					translation	mitochondrial ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						AGAGAAAGACCGTGAAAGCTG	0.423000													7	54					0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21314463	21314463	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:21314463C>T	ENST00000377191.3	+	11	1150	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	XRN2_ENST00000430571.2_Missense_Mutation_p.S276L|XRN2_ENST00000539513.1_Missense_Mutation_p.S298L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	352					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CATTTGCCATCGTTAGAGATT	0.418000													33	244					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59851870	59851870	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:59851870G>A	ENST00000361421.1	-	3	622	c.402C>T	c.(400-402)tcC>tcT	p.S134S		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	134						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CCACAGAAATGGAATTAGAAA	0.473000													17	63					0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672604	108672604	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:108672604C>T	ENST00000261047.3	-	1	138	c.6G>A	c.(4-6)ggG>ggA	p.G2G	GUCA1C_ENST00000471108.1_Silent_p.G2G|GUCA1C_ENST00000393963.3_Silent_p.G2G	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	2					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						ATTTGCCATTCCCCATCTTGA	0.423000													16	75					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83361968	83361968	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:83361968C>T	ENST00000262752.2	-	14	1199	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.E398K	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	398	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATTTTATATTCTTCTGCAATA	0.353000													11	14					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48668808	48668808	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48668808C>T	ENST00000352832.5	+	11	2838	c.2466C>T	c.(2464-2466)atC>atT	p.I822I	CACNA1G_ENST00000510366.1_Silent_p.I822I|CACNA1G_ENST00000513964.1_Silent_p.I822I|CACNA1G_ENST00000442258.2_Silent_p.I822I|CACNA1G_ENST00000507510.2_Silent_p.I822I|CACNA1G_ENST00000502264.1_Silent_p.I822I|CACNA1G_ENST00000507336.1_Silent_p.I822I|CACNA1G_ENST00000359106.5_Silent_p.I822I|CACNA1G_ENST00000513689.2_Silent_p.I822I|CACNA1G_ENST00000360761.4_Silent_p.I822I|CACNA1G_ENST00000416767.4_Silent_p.I822I|CACNA1G_ENST00000510115.1_Silent_p.I822I|CACNA1G_ENST00000505165.1_Silent_p.I822I|CACNA1G_ENST00000515165.1_Silent_p.I822I|CACNA1G_ENST00000515765.1_Silent_p.I822I|CACNA1G_ENST00000429973.2_Silent_p.I822I|CACNA1G_ENST00000515411.1_Silent_p.I822I|CACNA1G_ENST00000358244.5_Silent_p.I822I|CACNA1G_ENST00000514717.1_Silent_p.I822I|CACNA1G_ENST00000514181.1_Silent_p.I822I|CACNA1G_ENST00000514079.1_Silent_p.I822I|CACNA1G_ENST00000507896.1_Silent_p.I822I|CACNA1G_ENST00000507609.1_Silent_p.I822I|CACNA1G_ENST00000512389.1_Silent_p.I822I|CACNA1G_ENST00000354983.4_Silent_p.I822I|CACNA1G_ENST00000503485.1_Silent_p.I822I	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	822					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)	TGTGGGAGATCGTGGGCCAGC	0.697000													3	9					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11014171	11014171	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:11014171C>T	ENST00000377004.4	-	10	1003	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	C1orf127_ENST00000377008.4_Missense_Mutation_p.G168E	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	186								p.G168E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		AGCTTGTGTTCCCGGGGTTCC	0.567000													11	134					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89940612	89940612	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:89940612C>T	ENST00000405460.2	+	15	2920	c.2824C>T	c.(2824-2826)Cct>Tct	p.P942S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	942	Calx-beta 7.				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)		AGATGTATTTCCTGTACAAGG	0.378000													7	98					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131404772	131404772	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:131404772C>T	ENST00000512055.1	-	10	2664	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	CPNE4_ENST00000502818.1_Missense_Mutation_p.E198K|CPNE4_ENST00000429747.1_Missense_Mutation_p.E180K|CPNE4_ENST00000511604.1_Missense_Mutation_p.E180K|CPNE4_ENST00000512332.1_Missense_Mutation_p.E198K			Q96A23	CPNE4_HUMAN	copine IV	180	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CGAAAAATTTCCAGAAATGGG	0.383000													9	32					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1204906	1204906	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:1204906G>A	ENST00000308624.5	+	9	838	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Missense_Mutation_p.E110K	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	237					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AGCCGGAACGGAAAAATTAAG	0.537000													22	143					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1096471	1096471	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:1096471G>A	ENST00000441003.2	+	34	6523	c.6496G>A	c.(6496-6498)Gat>Aat	p.D2166N	MUC2_ENST00000361558.6_Missense_Mutation_p.D304N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4528						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)	CTACCACTGCGATCCCAACGA	0.577000													6	97					0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48823245	48823245	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:48823245G>A	ENST00000218176.3	-	3	2588	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	KCND1_ENST00000376477.1_Missense_Mutation_p.R54C	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	431						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CTTGCCAAGCGCACCTTCTGC	0.572000													8	16					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152190933	152190933	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152190933C>T	ENST00000368801.2	-	3	3247	c.3172G>A	c.(3172-3174)Gga>Aga	p.G1058R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1058					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGACTGTCCTGAGCGAGAC	0.562000													27	180					0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	61021871	61021871	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:61021871G>A	ENST00000238714.3	+	20	2265	c.2016G>A	c.(2014-2016)aaG>aaA	p.K672K		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	672					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CAACATTTAAGGACCCCCGCA	0.299000													4	34					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233187	21233187	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21233187T>G	ENST00000233242.1	-	26	6680	c.6553A>C	c.(6553-6555)Att>Ctt	p.I2185L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2185					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTATCTTTAATATACTGATCA	0.244000													3	8					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1592205	1592205	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:1592205T>A	ENST00000279477.7	-	2	295	c.231A>T	c.(229-231)ttA>ttT	p.L77F	SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.L77F|SIRPB1_ENST00000381596.1_5'UTR	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	77	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						GATTGTAGATTAATTCCCGGC	0.517000													18	57					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43571824	43571824	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:43571824C>T	ENST00000452443.2	-	10	1681	c.1678_splice	c.e10+1	p.K559_splice		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	559					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CACACTCACCCTTCCCAAAGT	0.617000													15	155					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38525476	38525476	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:38525476A>C	ENST00000332509.3	-	8	1354	c.1171T>G	c.(1171-1173)Tcc>Gcc	p.S391A	PLA2G6_ENST00000402064.1_Missense_Mutation_p.S391A|PLA2G6_ENST00000335539.3_Missense_Mutation_p.S391A	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	391					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCGATTTTGGAGGCTAGGAAT	0.567000													7	53					0	0	1	0	0
LAS1L	81887	broad.mit.edu	37	X	64744106	64744106	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:64744106G>A	ENST00000374811.3	-	10	1170	c.1130C>T	c.(1129-1131)cCg>cTg	p.P377L	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.P360L|LAS1L_ENST00000374804.5_Missense_Mutation_p.P318L	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	377						MLL1 complex|nucleolus	protein binding	p.P377L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTGAGAGAACGGCTTTGGCAC	0.572000													3	12					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604719	62604719	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:62604719G>A	ENST00000281156.4	-	6	909	c.631C>T	c.(631-633)Cct>Tct	p.P211S		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	211	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGGGGAGGAGGAATGGCACCC	0.537000													11	35					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78440626	78440626	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:78440626C>T	ENST00000278550.7	-	22	3663	c.3201G>A	c.(3199-3201)cgG>cgA	p.R1067R		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		AGCCAGGGGTCCGGCTGCTCA	0.582000													4	55					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	308073	308073	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:308073G>A	ENST00000428720.1	-	8	1479	c.736C>T	c.(736-738)Ccg>Tcg	p.P246S	SLC6A12_ENST00000397296.2_Missense_Mutation_p.P246S|SLC6A12_ENST00000359674.4_Missense_Mutation_p.P246S|SLC6A12_ENST00000424061.2_Missense_Mutation_p.P246S|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Missense_Mutation_p.P246S	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	246					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ATCAGGTACGGAAACGTGGCT	0.577000													14	56					0	0	1	0	0
ZNF767	79970	broad.mit.edu	37	7	149318390	149318390	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:149318390G>A	ENST00000463567.1	-	0	446					NR_027788.1				zinc finger family member 767											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			GCAGCCGCAGGATCCAGAAGT	0.692000													10	226					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33328830	33328830	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:33328830G>A	ENST00000374796.2	-	12	7800	c.5230C>T	c.(5230-5232)Cct>Tct	p.P1744S	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1744S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1744	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGAGGGGAAGGAAGCTGAACA	0.542000													6	66					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965935	88965935	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:88965935C>T	ENST00000333190.4	+	4	4248	c.3639C>T	c.(3637-3639)ttC>ttT	p.F1213F		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1213						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACCACACGTTCCTGCAGCATT	0.493000										HNSCC(36;0.09)			16	123					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66941750	66941750	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:66941750C>T	ENST00000374690.3	+	6	2918	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L	AR_ENST00000396043.2_Silent_p.L266L|AR_ENST00000396044.3_Intron	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	797	Interaction with MYST2.|Ligand-binding.		Q -> E (in PAIS, AIS and prostate cancer; reduced transcription activation).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TTGGATGGCTCCAAATCACCC	0.527000									Androgen Insensitivity Syndrome				6	43					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776783	5776783	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5776783C>T	ENST00000317254.3	+	1	861	c.813C>T	c.(811-813)atC>atT	p.I271I	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AACACATAATCCCCCCTTCTT	0.453000													22	95					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414349	20414349	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:20414349G>A	ENST00000380338.4	-	5	781	c.495C>T	c.(493-495)agC>agT	p.S165S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S162S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	165	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctactgctgctgctgctgc	0.532000			T	MLL	ALL								4	35					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115455667	115455667	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:115455667G>A	ENST00000369522.3	+	19	1783	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E515K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	515					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)		TAAGAATACTGAATTAACTTC	0.299000													15	45					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2024075	2024075	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:2024075C>T	ENST00000382722.5	-	2	616	c.254G>A	c.(253-255)gGc>gAc	p.G85D	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.G85D|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.G21D|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.G85D|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.G21D|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.G85D	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	85						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAGGTCCCCGCCGAAGGTGTC	0.542000													9	47					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75899295	75899295	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:75899295G>A	ENST00000322507.8	-	6	940	c.631C>T	c.(631-633)Cca>Tca	p.P211S	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.P211S|COL12A1_ENST00000483888.2_Missense_Mutation_p.P211S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	211	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCTTTATATGGAATTTTTTTT	0.323000													6	96					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10720494	10720494	+	Missense_Mutation	SNP	C	C	T	rs150116767		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:10720494C>T	ENST00000377022.3	-	6	922	c.605G>A	c.(604-606)aGg>aAg	p.R202K	CASZ1_ENST00000344008.5_Missense_Mutation_p.R202K	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCTGATCTTCCTGGCCAGCTC	0.657000													11	35					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138239657	138239657	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:138239657T>C	ENST00000343526.4	+	9	1691	c.1476T>C	c.(1474-1476)ggT>ggC	p.G492G	TRIM24_ENST00000415680.2_Intron|TRIM24_ENST00000497516.1_Intron			O15164	TIF1A_HUMAN	tripartite motif containing 24	492					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CACCTGTGGGTTTACCAAACC	0.498000													34	65					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115144187	115144187	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:115144187C>T	ENST00000393274.1	-	13	2382	c.1757G>A	c.(1756-1758)cGa>cAa	p.R586Q	DENND2C_ENST00000393276.3_Missense_Mutation_p.R529Q|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.R586Q	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	586	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		CTCAGGGAGTCGCTTTCCTTT	0.358000													75	260					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722328	196722328	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:196722328C>T	ENST00000312428.6	-	44	8287	c.8187G>A	c.(8185-8187)ggG>ggA	p.G2729G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2729	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						CAATTTTTTTCCCTGAACCTG	0.443000													4	50					0	0	1	0	0
ITM2A	9452	broad.mit.edu	37	X	78619030	78619030	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:78619030C>T	ENST00000373298.2	-	2	276	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Intron	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	45						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						CCCTCTTTTTCCTGGGTGGCA	0.398000													4	21					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93956606	93956606	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:93956606C>T	ENST00000369303.4	-	15	2814	c.2630G>A	c.(2629-2631)cGt>cAt	p.R877H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	877	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R877L(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTTTCAGCACGCTCCTTTTG	0.423000													7	54					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187446258	187446258	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:187446258G>A	ENST00000406870.2	-	6	1796	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.S477F|BCL6_ENST00000232014.4_Missense_Mutation_p.S477F|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	477					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGAGCCGCAGGACGTGCACTT	0.607000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								9	35					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20639370	20639370	+	Silent	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:20639370C>A	ENST00000525748.1	+	7	1473	c.1200C>A	c.(1198-1200)ctC>ctA	p.L400L		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	400					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTCTCTGCCTCTTCCTGGCTT	0.478000													17	141					1.87028e-06	1.8873e-06	1	1	0
SLC26A3	1811	broad.mit.edu	37	7	107408071	107408071	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:107408071C>T	ENST00000340010.5	-	20	2408	c.2224G>A	c.(2224-2226)Gat>Aat	p.D742N	SLC26A3_ENST00000422236.2_Missense_Mutation_p.D629N	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	742					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATGGTAAAATCAATTTTTCCA	0.323000													4	17					0	0	1	0	0
LIME1	54923	broad.mit.edu	37	20	62370243	62370243	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:62370243C>A	ENST00000309546.3	+	6	965	c.878C>A	c.(877-879)tCc>tAc	p.S293Y	LIME1_ENST00000490824.1_3'UTR|ZGPAT_ENST00000490623.1_3'UTR	NM_017806.2	NP_060276.2			Lck interacting transmembrane adaptor 1											kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CTCCCTGCCTCCCTGCCCTGA	0.721000													5	15					0.184627	0.184743	1	1	0
IL2RA	3559	broad.mit.edu	37	10	6063631	6063631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:6063631C>T	ENST00000379959.3	-	4	566	c.393G>A	c.(391-393)tgG>tgA	p.W131*	IL2RA_ENST00000256876.6_Nonsense_Mutation_p.W131*|IL2RA_ENST00000379954.1_Intron	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	131	Sushi 2.				cell proliferation	integral to membrane	interleukin-2 receptor activity	p.W131*(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTTCATTTTCCCATGGTGGAG	0.527000													11	51					0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15826515	15826515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:15826515G>A	ENST00000226279.2	+	3	512	c.375G>A	c.(373-375)tgG>tgA	p.W125*		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	125					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TTCTTCTTTGGAGCAGAATAA	0.388000													9	42					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048113	9048113	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9048113G>A	ENST00000397910.4	-	5	33721	c.33518C>T	c.(33517-33519)tCt>tTt	p.S11173F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11175	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						TTCATCAGAAGAAATAGTCAG	0.453000													7	42					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189916093	189916093	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:189916093G>A	ENST00000374866.3	-	42	3158	c.2884C>T	c.(2884-2886)Cct>Tct	p.P962S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	962					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGGCCACCAGGGGGGCCAGCT	0.597000													6	58					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373909	86373909	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:86373909G>A	ENST00000604798.1	-	8	1799	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	MGAT4C_ENST00000332156.1_Missense_Mutation_p.R199C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R199C|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R199C|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R228C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R199C			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	199					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCTTGGAACGAAATTTGACT	0.338000													5	80					0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012200	160012200	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:160012200C>T	ENST00000368089.3	-	2	349	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	41						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	p.M41I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAATGTGCTCCATTCTCACGT	0.547000													13	105					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807488	143807488	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143807488A>T	ENST00000408979.2	+	1	882	c.813A>T	c.(811-813)aaA>aaT	p.K271N		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGCAGGAGAAAATGCTGTCCC	0.522000													19	198					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71887252	71887252	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:71887252G>A	ENST00000373545.3	-	7	1128	c.690C>T	c.(688-690)gtC>gtT	p.V230V	PHKA1_ENST00000373539.3_Silent_p.V230V|PHKA1_ENST00000373542.4_Silent_p.V230V|PHKA1_ENST00000541944.1_Silent_p.V230V|PHKA1_ENST00000339490.3_Silent_p.V230V			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	230					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CATCAGCCAGGACATGGATAA	0.418000													4	29					0	0	1	0	0
DPF1	8193	broad.mit.edu	37	19	38709597	38709597	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:38709597C>T	ENST00000416611.1	-	4	526	c.403G>A	c.(403-405)Gag>Aag	p.E135K	DPF1_ENST00000456296.1_Missense_Mutation_p.E135K|DPF1_ENST00000412732.1_Missense_Mutation_p.E79K|DPF1_ENST00000355526.4_Missense_Mutation_p.E161K|DPF1_ENST00000420980.2_Missense_Mutation_p.E161K|DPF1_ENST00000414789.1_Missense_Mutation_p.E79K			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	161					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTCTCCTCCTCCTTCAGCTCA	0.647000													10	130					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130412677	130412677	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:130412677A>C	ENST00000370904.1	-	18	2682	c.1772T>G	c.(1771-1773)tTt>tGt	p.F591C	IGSF1_ENST00000361420.3_Missense_Mutation_p.F600C|IGSF1_ENST00000370903.3_Missense_Mutation_p.F605C|IGSF1_ENST00000370910.1_Missense_Mutation_p.F591C			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	600	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCCAGAGGAAAGTTGGTCTC	0.547000													20	66					0	0	1	0	0
FIZ1	84922	broad.mit.edu	37	19	56104194	56104194	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56104194G>A	ENST00000221665.3	-	3	1202	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCTCCAAGGCGGCCAGCGCCG	0.771000													5	18					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258072	56258072	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56258072G>A	ENST00000327216.2	-	1	799	c.775C>T	c.(775-777)Ctc>Ttc	p.L259F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GGGGGTCTGAGATACATGAAG	0.413000													9	49					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	391211	391211	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:391211C>T	ENST00000256509.2	+	10	1660	c.1018C>T	c.(1018-1020)Cac>Tac	p.H340Y	CHL1_ENST00000397491.2_Missense_Mutation_p.H324Y	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	324	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCACGATTTTCACGTTATAGT	0.393000													8	98					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84028139	84028139	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:84028139C>T	ENST00000280241.8	-	1	49	c.50G>A	c.(49-51)gGg>gAg	p.G17E	DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.G17E	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GGCATCCATCCCATCGGACCC	0.572000													23	102					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717196	142717196	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:142717196C>T	ENST00000381779.4	-	2	1954	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E577K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E577K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	577	LRRCT 2.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CATAAGATTTCATTTTTGAGG	0.463000													23	86					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839442	15839442	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15839442G>A	ENST00000305899.3	+	1	609	c.589G>A	c.(589-591)Gcc>Acc	p.A197T		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ACCAGCTGTGGCCCTGGGCGT	0.502000													20	74					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96953255	96953255	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:96953255G>A	ENST00000323853.5	-	26	3483	c.3406C>T	c.(3406-3408)Cct>Tct	p.P1136S	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1136	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ACTTCCTCAGGGAGTTTCCGG	0.517000													8	70					0	0	1	0	0
DUSP1	1843	broad.mit.edu	37	5	172196657	172196657	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:172196657G>A	ENST00000239223.3	-	3	896	c.654C>T	c.(652-654)taC>taT	p.Y218Y	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	218	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)		TCTTGTACTGGTAGTGACCCT	0.522000													19	114					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26414446	26414446	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:26414446A>T	ENST00000265944.5	+	19	2189	c.2023A>T	c.(2023-2025)Agg>Tgg	p.R675W	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	675	Myosin head-like.				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						TACCGATGTCAGGGATGCCAT	0.418000													16	101					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158637647	158637647	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158637647C>T	ENST00000368148.3	-	15	2219		c.e15+1		SPTA1_ENST00000368147.3_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGCTTTTTACCTTTCTGTTT	0.428000													4	20					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545860	82545860	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82545860C>T	ENST00000423517.2	-	7	11779	c.11442G>A	c.(11440-11442)aaG>aaA	p.K3814K	PCLO_ENST00000437081.1_Silent_p.K534K|PCLO_ENST00000333891.8_Silent_p.K3814K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3745	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.K3814K(2)		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						TTTCTCTCTCCTTTAATAGGG	0.448000													7	66					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108589950	108589950	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:108589950C>T	ENST00000332082.4	+	3	1159	c.341C>T	c.(340-342)gCc>gTc	p.A114V	WSCD2_ENST00000547525.1_Missense_Mutation_p.A114V|WSCD2_ENST00000549903.1_Missense_Mutation_p.A114V|WSCD2_ENST00000261400.3_Missense_Mutation_p.A114V			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	114						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGGAGCCGAGCCCTCAAGGGG	0.592000													4	36					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433935	72433935	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:72433935C>T	ENST00000373517.3	-	1	749	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	132					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCATGAAATTCCCTCAGGAAT	0.383000													5	67					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112944841	112944841	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:112944841G>A	ENST00000331203.2	+	8	1349	c.1078G>A	c.(1078-1080)Gcc>Acc	p.A360T	FBLN7_ENST00000409450.3_Missense_Mutation_p.A314T|FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Missense_Mutation_p.A226T	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	360					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	p.A360T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CATGGCCACAGCCTCTGCCCC	0.642000													15	85					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725533	55725533	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55725533G>A	ENST00000379667.1	+	1	49	c.49G>A	c.(49-51)Gat>Aat	p.D17N		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CCTTTCTGATGATCCTGACCT	0.398000													9	60					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3736193	3736193	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:3736193C>T	ENST00000541714.2	+	11	1620	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	TJP3_ENST00000589378.1_Silent_p.F395F|TJP3_ENST00000262968.9_Silent_p.F419F|TJP3_ENST00000382008.3_Silent_p.F400F|TJP3_ENST00000587686.1_Silent_p.F405F|TJP3_ENST00000539908.2_Silent_p.F350F	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	400						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTCCGCTTCCTCAAGGGCA	0.677000													5	42					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627841	37627841	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:37627841C>T	ENST00000447079.4	+	2	1789	c.1756C>T	c.(1756-1758)Cct>Tct	p.P586S	CDK12_ENST00000430627.2_Missense_Mutation_p.P586S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	586					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AACTTTGCCCCCTTCTACTCA	0.493000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			25	227					0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96698059	96698059	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:96698059G>A	ENST00000434632.1	-	3	508	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	GPAT2_ENST00000377137.3_Missense_Mutation_p.P17S|GPAT2_ENST00000453542.1_Missense_Mutation_p.P17S|GPAT2_ENST00000359548.4_Missense_Mutation_p.P17S			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	17					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CGGCCACTGGGGCTGCTCCTT	0.582000													3	14					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135279383	135279383	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:135279383C>T	ENST00000285968.6	+	13	1945	c.1919C>T	c.(1918-1920)cCt>cTt	p.P640L	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	640					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGTATTCCCCCTGTCCTAAAA	0.493000													8	79					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041328	234041328	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:234041328C>T	ENST00000366618.3	+	2	252	c.107C>T	c.(106-108)cCc>cTc	p.P36L		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GACATCAGCCCCCAGCTCCGG	0.672000													7	31					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158253972	158253972	+	Splice_Site	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:158253972A>G	ENST00000296526.7	+	7	1209	c.882_splice	c.e7-1	p.Y295_splice	GRIA2_ENST00000264426.9_Splice_Site_p.Y295_splice|GRIA2_ENST00000449365.1_Splice_Site_p.Y248_splice|GRIA2_ENST00000393815.2_Splice_Site_p.Y248_splice|GRIA2_ENST00000507898.1_Splice_Site_p.Y248_splice	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	295					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CCTTTGCAGTATACTTCTGCT	0.458000													20	65					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658818	72658818	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:72658818G>A	ENST00000425256.1	-	0	1093					NR_002164.1																						agacatgttggaatattctgt	0.413000													18	103					0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149700080	149700080	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:149700080T>C	ENST00000367456.1	+	4	1606	c.1029T>C	c.(1027-1029)tcT>tcC	p.S343S	TAB2_ENST00000538427.1_Silent_p.S343S|TAB2_ENST00000536230.1_Silent_p.S311S|TAB2_ENST00000286332.5_Silent_p.S343S|TAB2_ENST00000392282.1_Silent_p.S343S			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	343					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						AACTGCGTTCTTCTGGACCTC	0.428000													17	52					0	0	1	0	0
TRAV8-6	28680	broad.mit.edu	37	14	22447102	22447102	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22447102G>A	ENST00000390443.3	+	0	303																											CAGCTTGACAGCCAAGTCCCT	0.463000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	120					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196671484	196671484	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:196671484G>A	ENST00000312428.6	-	54	10256	c.10156C>T	c.(10156-10158)Cgt>Tgt	p.R3386C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3386			R -> H (in dbSNP:rs6708527).		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						CTCAAGCAACGAATAATAAGC	0.393000													3	48					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121471365	121471365	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:121471365C>T	ENST00000257570.5	-	2	650	c.380G>A	c.(379-381)aGg>aAg	p.R127K	OASL_ENST00000339275.5_Missense_Mutation_p.R127K	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	127					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGCTCCATCCTCAGGTCCTC	0.587000													10	77					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	22078665	22078665	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:22078665G>A	ENST00000382254.1	-	5	1207	c.121C>T	c.(121-123)Cat>Tat	p.H41Y	CDH12_ENST00000504376.2_Missense_Mutation_p.H41Y|CDH12_ENST00000522262.1_Missense_Mutation_p.H41Y	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	41					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCTGGCAGATGGATAACATTT	0.483000										HNSCC(59;0.17)			36	134					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962250	73962250	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73962250C>T	ENST00000373468.1	-	3	2793	c.2142G>A	c.(2140-2142)agG>agA	p.R714R	KIAA2022_ENST00000055682.5_Silent_p.R714R			Q5QGS0	K2022_HUMAN	KIAA2022	714					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGAGCACTTTCCTCTCTGGCC	0.418000													8	40					0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414998	46414998	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:46414998G>A	ENST00000343801.4	+	3	962	c.605G>A	c.(604-606)gGg>gAg	p.G202E	CCR5_ENST00000292303.4_Missense_Mutation_p.G202E|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Missense_Mutation_p.G202E	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	202					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GTCATCTTGGGGCTGGTCCTG	0.458000													32	121					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100404	110100404	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110100404T>A	ENST00000518632.1	+	2	1014	c.663T>A	c.(661-663)aaT>aaA	p.N221K	TRHR_ENST00000311762.2_Missense_Mutation_p.N221K			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	221						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTTTCTTAAATCCCATTCCTT	0.363000													8	30					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16513672	16513672	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:16513672T>C	ENST00000502640.1	-	6	819	c.671A>G	c.(670-672)aAc>aGc	p.N224S	RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Missense_Mutation_p.N224S|LDB2_ENST00000441778.2_Missense_Mutation_p.N224S|LDB2_ENST00000503178.2_Missense_Mutation_p.N100S|LDB2_ENST00000304523.5_Missense_Mutation_p.N224S			O43679	LDB2_HUMAN	LIM domain binding 2	224							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GGGACTGAGGTTGTAAGTTTT	0.463000													6	40					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904497	55904497	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55904497C>T	ENST00000301529.1	-	1	697	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TTTTTTCCTTCCTTCTGGTGA	0.378000													4	35					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26918095	26918095	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:26918095C>T	ENST00000539517.2	-	5	911	c.594G>A	c.(592-594)atG>atA	p.M198I	NOVA1_ENST00000267422.7_Missense_Mutation_p.M76I|NOVA1_ENST00000465357.2_Missense_Mutation_p.M174I	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	201	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTGACTGCTCCATTACAGCCT	0.448000													7	85					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71029683	71029683	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:71029683G>A	ENST00000334414.6	-	2	263	c.219C>T	c.(217-219)aaC>aaT	p.N73N	PTPRB_ENST00000550358.1_Silent_p.N73N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.N72N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				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)			CGCGGGAAGAGTTGGAGATGG	0.557000													3	25					0	0	1	0	0
PGBD4	161779	broad.mit.edu	37	15	34395661	34395661	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:34395661C>T	ENST00000397766.2	+	1	1388	c.929C>T	c.(928-930)tCa>tTa	p.S310L		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	310										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GGCCTGAAATCATCACGCATT	0.418000													13	50					0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281957	125281957	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:125281957G>A	ENST00000340750.1	+	1	538	c.538G>A	c.(538-540)Gat>Aat	p.D180N		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TTTCTTCTGTGATCTTGTTGC	0.502000													11	28					0	0	1	0	0
TMEM248	55069	broad.mit.edu	37	7	66410237	66410237	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:66410237T>G	ENST00000341567.4	+	3	689	c.434T>G	c.(433-435)aTt>aGt	p.I145S		NM_017994.4	NP_060464.1			transmembrane protein 248																		GGGCATCAGATTGGACTTTCA	0.478000													13	90					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158242619	158242619	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:158242619C>T	ENST00000296526.7	+	6	1075	c.750C>T	c.(748-750)atC>atT	p.I250I	GRIA2_ENST00000264426.9_Silent_p.I250I|GRIA2_ENST00000449365.1_Silent_p.I203I|GRIA2_ENST00000393815.2_Silent_p.I203I|GRIA2_ENST00000507898.1_Silent_p.I203I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	250					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TATTAAAAATCCAGTTTGGAG	0.333000													6	99					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072032	34072032	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:34072032G>A	ENST00000254466.6	-	6	2511	c.2484C>T	c.(2482-2484)tcC>tcT	p.S828S	GAS2L2_ENST00000587565.1_Silent_p.S812S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	828					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATCCACCCGGGATGCCTCCC	0.642000													15	63					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907600	164907600	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:164907600C>T	ENST00000475390.1	-	2	1462	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R340Q			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	340						integral to membrane		p.R340L(1)		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						CCTTGGTGTTCGAGGCTGTTT	0.483000										HNSCC(40;0.11)			38	252					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222301810	222301810	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:222301810C>T	ENST00000281821.2	-	12	2148	c.2107G>A	c.(2107-2109)Gag>Aag	p.E703K	EPHA4_ENST00000409854.1_Missense_Mutation_p.E703K|EPHA4_ENST00000409938.1_Missense_Mutation_p.E703K|EPHA4_ENST00000392071.4_Missense_Mutation_p.E652K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	703	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GAGCCATTCTCCATGTACTCT	0.373000													5	64					0	0	1	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105331	60105331	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:60105331G>A	ENST00000300182.4	+	2	330	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	89						integral to membrane	receptor activity	p.E89K(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TAAGTTGGACGAAAAGGATAT	0.453000													9	85					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148857891	148857891	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:148857891C>T	ENST00000296051.2	+	2	458	c.318C>T	c.(316-318)atC>atT	p.I106I	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	106						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGTGTGTATCCGAATGATTG	0.418000									Hermansky-Pudlak syndrome				30	124					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106844242	106844242	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:106844242G>A	ENST00000276185.4	+	16	3072	c.3072G>A	c.(3070-3072)atG>atA	p.M1024I				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1024						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGGCCAGCATGGGGAGGCCAG	0.547000													4	5					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37771400	37771400	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:37771400C>T	ENST00000402918.1	-	3	960	c.175G>A	c.(175-177)Gac>Aac	p.D59N	ELFN2_ENST00000349653.3_Missense_Mutation_p.D59N|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	59						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGCCGCAGGTCGTGCACGGTG	0.592000													7	29					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029524	219029524	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:219029524C>T	ENST00000295683.2	-	2	531	c.411G>A	c.(409-411)ctG>ctA	p.L137L		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	137					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GGACAATGGCCAGGTAACGGT	0.527000													7	34					0	0	1	0	0
ARG1	383	broad.mit.edu	37	6	131902433	131902433	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:131902433C>A	ENST00000368087.3	+	4	519	c.380C>A	c.(379-381)aCt>aAt	p.T127N	MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.T135N|ARG1_ENST00000476845.1_Missense_Mutation_p.T127N			P05089	ARGI1_HUMAN	arginase 1	127	Substrate binding.				arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	GATGCTCACACTGATATCAAC	0.453000													7	37					1.12685e-05	1.1359e-05	1	1	0
PARVA	55742	broad.mit.edu	37	11	12518126	12518126	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:12518126C>T	ENST00000334956.8	+	5	985	c.642C>T	c.(640-642)agC>agT	p.S214S	PARVA_ENST00000538608.1_Silent_p.S121S|PARVA_ENST00000550549.1_Silent_p.S174S|PARVA_ENST00000539723.1_Silent_p.S174S	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN	parvin, alpha	174					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		CTCCCAGGAGCATCAAGTGGA	0.488000													3	17					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993832	140993832	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140993832C>T	ENST00000285879.4	+	4	928	c.642C>T	c.(640-642)ttC>ttT	p.F214F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	214							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)					TGAGTATTTTCCAGAGTTCCC	0.507000										HNSCC(15;0.026)			58	133					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756619	56756619	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56756619C>T	ENST00000326855.2	+	1	273	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CTTCTGCTATCACTCCCAAGA	0.358000													8	47					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	860738	860738	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:860738G>A	ENST00000316157.3	-	16	1913	c.1873C>T	c.(1873-1875)Cct>Tct	p.P625S	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	625							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AGGGCGGAAGGAAGTCTGTCC	0.577000													3	7					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117043419	117043419	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:117043419C>T	ENST00000371876.1	-	4	3479	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	KLHL13_ENST00000539496.1_Missense_Mutation_p.G407E|KLHL13_ENST00000371882.1_Missense_Mutation_p.G353E|KLHL13_ENST00000545703.1_Missense_Mutation_p.G362E|KLHL13_ENST00000371878.1_Missense_Mutation_p.G353E|KLHL13_ENST00000541812.1_Missense_Mutation_p.G388E|KLHL13_ENST00000262820.3_Missense_Mutation_p.G404E|KLHL13_ENST00000540167.1_Missense_Mutation_p.G388E|KLHL13_ENST00000469946.1_Missense_Mutation_p.G353E			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	404					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.G404E(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGCCGTTTTTCCTTTTGTATC	0.433000													9	34					0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49166724	49166724	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49166724G>A	ENST00000270235.4	-	6	1196	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	367	NTR.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						ACTCACCATGGTCCTGCTGGC	0.547000													26	133					0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499498	34499498	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:34499498G>A	ENST00000538621.1	+	9	1404	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R	PACSIN1_ENST00000244458.2_Missense_Mutation_p.G387R|PACSIN1_ENST00000374043.2_Missense_Mutation_p.G345R	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	387	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CGACTCCAAGGGAGTGCGCGT	0.657000													15	237					0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141629991	141629991	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141629991G>A	ENST00000546910.1	-	7	676	c.480C>T	c.(478-480)aaC>aaT	p.N160N	CLEC5A_ENST00000551012.2_Silent_p.N137N|CLEC5A_ENST00000439991.1_Silent_p.N56N|MGAM_ENST00000497554.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	160	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TGGTCGCACAGTTGAAATTCT	0.393000													24	46					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50854619	50854619	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:50854619G>A	ENST00000395562.2	+	9	1403	c.934G>A	c.(934-936)Gga>Aga	p.G312R	CHAT_ENST00000337653.2_Missense_Mutation_p.G394R|CHAT_ENST00000339797.1_Missense_Mutation_p.G276R|CHAT_ENST00000351556.3_Missense_Mutation_p.G276R|CHAT_ENST00000395559.2_Missense_Mutation_p.G276R|CHAT_ENST00000455728.2_Missense_Mutation_p.G276R	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	394					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)	GGACGCGCCAGGAGGCGTGGA	0.637000													6	79					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99361517	99361517	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99361517C>T	ENST00000354593.2	-	5	640	c.537G>A	c.(535-537)caG>caA	p.Q179Q	CYP3A4_ENST00000336411.2_Silent_p.Q329Q			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	329					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CCTGCAGTTTCTGCTGGACAT	0.453000													8	46					0	0	1	0	0
NUBPL	80224	broad.mit.edu	37	14	32328366	32328366	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:32328366T>C	ENST00000281081.7	+	11	985	c.940T>C	c.(940-942)Ttg>Ctg	p.L314L	NUBPL_ENST00000418681.2_3'UTR|NUBPL_ENST00000536705.1_Silent_p.L218L	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	314					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		GGTAAGAAGATTGCCATCACC	0.418000													3	32					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44663604	44663604	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:44663604G>A	ENST00000454036.1	+	2	215	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	SLC12A5_ENST00000372315.1_Missense_Mutation_p.E24K|SLC12A5_ENST00000539566.1_Missense_Mutation_p.E24K|SLC12A5_ENST00000243964.3_Missense_Mutation_p.E24K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	47					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAACCCCAAGGAAAGCAGTCC	0.542000													8	102					0	0	1	0	0
RP11-125O5.2	0	broad.mit.edu	37	12	21207553	21207553	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:21207553T>C	ENST00000590779.1	+	1	26	c.26T>C	c.(25-27)aTt>aCt	p.I9T	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.Y555Y|LST3_ENST00000381541.3_Silent_p.Y555Y|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Silent_p.Y508Y																							TTACCTCATATTCCGTGCTGG	0.338000													6	25					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54911374	54911374	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:54911374C>T	ENST00000293373.6	+	12	1232	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R335C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	385					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTGGCTGGTTCGCCACACAGA	0.458000													4	53					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324854	150324854	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150324854C>T	ENST00000328902.5	-	3	1048	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	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	278							GTP binding			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)		TCCTCAGATTCCTTCTGGATC	0.572000													8	82					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825580	4825580	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4825580G>A	ENST00000380382.1	-	1	267	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.H11Y|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACACAGGATGAGAAGAGCTG	0.498000													6	37					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101342042	101342042	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:101342042G>A	ENST00000344327.3	-	9	2705	c.2281C>T	c.(2281-2283)Cct>Tct	p.P761S	TRPC6_ENST00000360497.4_Missense_Mutation_p.P706S|TRPC6_ENST00000532133.1_Missense_Mutation_p.P683S|TRPC6_ENST00000348423.4_Missense_Mutation_p.P645S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	761					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGGGTACAGGAAGTGTTCTG	0.438000													9	86					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641608	179641608	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179641608G>A	ENST00000589042.1	-	28	5207	c.4983C>T	c.(4981-4983)atC>atT	p.I1661I	TTN_ENST00000460472.2_Silent_p.I1615I|TTN_ENST00000359218.5_Silent_p.I1615I|TTN_ENST00000591111.1_Silent_p.I1661I|TTN_ENST00000360870.5_Silent_p.I1661I|TTN_ENST00000342175.6_Silent_p.I1615I|TTN_ENST00000342992.6_Silent_p.I1661I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1405							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)			CCCGTGGGATGATTAACTTTC	0.468000													7	52					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34052159	34052159	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34052159C>T	ENST00000373381.4	-	46	7172	c.6996G>A	c.(6994-6996)ctG>ctA	p.L2332L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2334	Sushi 13.					integral to membrane|plasma membrane	protein binding	p.L2334L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTTTGCAGGTCAGAATTTCAT	0.493000													14	74					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76555058	76555058	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:76555058C>T	ENST00000307431.8	+	17	2769	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S799F|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S723F|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S747F|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	796	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AATTCAGCTTCCTTTGATACC	0.328000													17	101					0	0	1	0	0
CSAG1	158511	broad.mit.edu	37	X	151909177	151909177	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151909177A>C	ENST00000370287.3	+	5	534	c.206A>C	c.(205-207)aAg>aCg	p.K69T	CSAG1_ENST00000370291.2_3'UTR|CSAG1_ENST00000452779.2_Missense_Mutation_p.K69T	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	69										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GGACCCGTCAAGGAAGTTCCA	0.542000													19	70					0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102487583	102487583	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:102487583G>A	ENST00000260228.2	-	2	346	c.334C>T	c.(334-336)Cct>Tct	p.P112S	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	112					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GGTTCACCAGGGAAGAGGCGA	0.443000													4	33					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21014518	21014518	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:21014518C>T	ENST00000261383.3	-	42	6033	c.6034G>A	c.(6034-6036)Gat>Aat	p.D2012N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2012					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D2012N(2)		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)		AAATAAAAATCATAGATGCTT	0.393000													6	79					0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6964358	6964358	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6964358A>C	ENST00000278319.5	+	5	1116	c.528A>C	c.(526-528)gaA>gaC	p.E176D	ZNF215_ENST00000527171.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.E176D|ZNF215_ENST00000529903.1_Missense_Mutation_p.E176D	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	176	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TCAGCAAGGAAGAGTGGGGGC	0.413000													19	116					0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15131315	15131315	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15131315G>A	ENST00000292574.3	+	3	800	c.718G>A	c.(718-720)Gag>Aag	p.E240K		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	240					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CTGCTTCAAGGAGCGGCTCCA	0.612000													8	20					0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168282156	168282156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:168282156G>A	ENST00000367821.3	+	8	1314	c.1263G>A	c.(1261-1263)tgG>tgA	p.W421*	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	421					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TGTCCACCTGGACAGCAGTGG	0.627000													5	42					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9525066	9525066	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:9525066G>A	ENST00000378429.3	-	9	2365	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	PAK7_ENST00000353224.5_Missense_Mutation_p.P607S|PAK7_ENST00000378423.1_Missense_Mutation_p.P607S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	607	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCCAGTAGGGAGTGCCAACC	0.498000													22	106					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4118530	4118530	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:4118530G>A	ENST00000324333.10	-	3	676	c.483C>T	c.(481-483)ttC>ttT	p.F161F	GLIS3_ENST00000381971.3_Silent_p.F316F	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	161					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TGATGGTATTGAAATCTATCC	0.637000													8	58					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125015499	125015499	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:125015499G>A	ENST00000522917.1	+	13	1818	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	FER1L6_ENST00000399018.1_Missense_Mutation_p.E538K|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	538						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACTGCTTCACGAAGGGCAAGG	0.517000													6	62					0	0	1	0	0
LEFTY2	7044	broad.mit.edu	37	1	226128681	226128681	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:226128681G>A	ENST00000366820.5	-	1	508	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	LEFTY2_ENST00000420304.2_Missense_Mutation_p.P54S	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	54					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					ACGTGGGCGGGGATGACCAGC	0.682000													8	48					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717501	13717501	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:13717501A>G	ENST00000265104.4	-	73	12732	c.12628T>C	c.(12628-12630)Tac>Cac	p.Y4210H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4210	AAA 6 (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)					TTAAATTCGTAGGGGATATTC	0.542000									Kartagener syndrome				9	33					0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31238005	31238005	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31238005G>A	ENST00000383329.3	-	4	891	c.877C>T	c.(877-879)Ccc>Tcc	p.P293S	HLA-C_ENST00000376228.5_Missense_Mutation_p.P293S			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	293	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						AGGGTGAGGGGCTCTTGCAGC	0.582000													7	119					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132403493	132403493	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:132403493C>A	ENST00000337331.5	-	24	3561	c.3475G>T	c.(3475-3477)Gaa>Taa	p.E1159*	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1159					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAAGCTCTTTCATAAAGTTCT	0.403000													8	24					1.12685e-05	1.1359e-05	1	1	0
SULT2B1	6820	broad.mit.edu	37	19	49090503	49090503	+	Missense_Mutation	SNP	G	G	A	rs140526640		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49090503G>A	ENST00000323090.4	+	2	562	c.187G>A	c.(187-189)Gag>Aag	p.E63K	SULT2B1_ENST00000201586.2_Missense_Mutation_p.E78K	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	78					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CTGGATGATCGAGATCATCTG	0.527000													13	43					0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66100136	66100136	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:66100136G>A	ENST00000311320.4	-	10	2089	c.1963C>T	c.(1963-1965)Ctg>Ttg	p.L655L	RIN1_ENST00000530056.1_Silent_p.L489L|RIN1_ENST00000524804.1_5'UTR|RIN1_ENST00000424433.2_Silent_p.L550L	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	655	Ras and 14-3-3 protein binding region.|Ras-associating.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AGCTGGTTCAGGGTGGCAATC	0.627000													28	136					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480513	140480513	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140480513G>A	ENST00000231130.2	+	1	280	c.280G>A	c.(280-282)Gag>Aag	p.E94K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		94	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACCGGGAGGAGCTATGCGG	0.468000													13	84					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540348	55540348	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:55540348C>T	ENST00000220676.1	+	4	4054	c.3906C>T	c.(3904-3906)gtC>gtT	p.V1302V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1302					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)			TAGGAGAGGTCTGTTCACTTA	0.433000													14	118					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138698587	138698587	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:138698587C>T	ENST00000520602.1	-	12	1510	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	MCF2_ENST00000414978.1_Missense_Mutation_p.E409K|MCF2_ENST00000370573.4_Missense_Mutation_p.E349K|MCF2_ENST00000370576.4_Missense_Mutation_p.E349K|MCF2_ENST00000370578.4_Missense_Mutation_p.E494K|MCF2_ENST00000338585.6_Missense_Mutation_p.E349K|MCF2_ENST00000536274.1_Missense_Mutation_p.E310K|MCF2_ENST00000519895.1_Missense_Mutation_p.E409K			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	349					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTATCTATTTCCTGATTAGCT	0.323000													4	37					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55340899	55340899	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55340899C>T	ENST00000391728.4	+	7	1117	c.1084C>T	c.(1084-1086)Ctc>Ttc	p.L362F	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.L267F|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.L345F|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.L362F|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.L345F	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.L362I(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		tctccttcatctcTGGTGCTC	0.532000													6	67					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286458	152286458	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152286458C>T	ENST00000368799.1	-	3	939	c.904G>A	c.(904-906)Gac>Aac	p.D302N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	302	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)			CCCTCACTGTCCCTGTCCTGG	0.522000									Ichthyosis				58	245					0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42961028	42961028	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:42961028G>A	ENST00000426333.2	-	5	712	c.415C>T	c.(415-417)Cac>Tac	p.H139Y	EFTUD2_ENST00000592576.1_Missense_Mutation_p.H139Y|EFTUD2_ENST00000591382.1_Missense_Mutation_p.H139Y|EFTUD2_ENST00000402521.3_Missense_Mutation_p.H104Y	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	139						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTGCCATGGTGGAGATGTCCA	0.443000													14	56					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125899	58125899	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:58125899G>A	ENST00000357377.3	-	1	643	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACAGATAGGAAATCAAGGT	0.373000													8	38					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45108503	45108503	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:45108503C>T	ENST00000429094.2	-	10	1520	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	NELL2_ENST00000551601.1_Missense_Mutation_p.R338Q|NELL2_ENST00000549027.1_Missense_Mutation_p.R338Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R389Q|NELL2_ENST00000333837.4_Missense_Mutation_p.R362Q|NELL2_ENST00000395487.2_Missense_Mutation_p.R338Q|NELL2_ENST00000452445.2_Missense_Mutation_p.R339Q	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	339	VWFC 2.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			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)		AAAGTAGGTTCGTCCTTGAAA	0.348000													3	34					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275491	130275491	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:130275491C>T	ENST00000257359.6	-	9	3338	c.2632G>A	c.(2632-2634)Gat>Aat	p.D878N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	878	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGCTTGGCATCCTCGGGTTTC	0.652000													11	72					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475444	157475444	+	Silent	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:157475444T>G	ENST00000389413.3	-	12	1990	c.1887A>C	c.(1885-1887)ccA>ccC	p.P629P	PTPRN2_ENST00000409483.1_Silent_p.P620P|PTPRN2_ENST00000389418.4_Silent_p.P658P|PTPRN2_ENST00000404321.2_Silent_p.P681P|PTPRN2_ENST00000389416.4_Silent_p.P641P	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	658						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CATCTGCACCTGGGTCGCCCC	0.557000													14	147					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481154	140481154	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140481154G>A	ENST00000231130.2	+	1	921	c.921G>A	c.(919-921)ttG>ttA	p.L307L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		307	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAAATATTTGAATTTTGAAG	0.393000													6	31					0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71880335	71880335	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:71880335G>A	ENST00000307864.1	-	5	648	c.435C>T	c.(433-435)atC>atT	p.I145I	AIFM2_ENST00000373248.1_Silent_p.I145I	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	145					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CCACCACCACGATGAACCGTG	0.542000													10	89					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73011946	73011946	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:73011946G>A	ENST00000313375.3	-	9	1216	c.1169C>T	c.(1168-1170)cCt>cTt	p.P390L	MLXIPL_ENST00000354613.1_Missense_Mutation_p.P390L|MLXIPL_ENST00000429400.2_Missense_Mutation_p.P390L|MLXIPL_ENST00000434326.1_Missense_Mutation_p.P297L|MLXIPL_ENST00000414749.2_Missense_Mutation_p.P390L|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P297L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	390	Poly-Pro.				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGGGGTACAGGAGGGGGTGG	0.667000													5	8					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142225965	142225965	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:142225965G>A	ENST00000519067.1	-	6	1984	c.1681C>T	c.(1681-1683)Ccc>Tcc	p.P561S	SLC45A4_ENST00000024061.3_Missense_Mutation_p.P561S|SLC45A4_ENST00000517878.1_Missense_Mutation_p.P612S|SLC45A4_ENST00000433583.2_Missense_Mutation_p.P554S			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	612					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TAGACGTTGGGAAACATGGCC	0.577000													6	49					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95186402	95186402	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:95186402G>A	ENST00000027335.3	-	6	635	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	CDH17_ENST00000450165.2_Missense_Mutation_p.L171F|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	171	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)			ATCATGGGAAGCTGGATGACA	0.483000													24	144					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215813	130215813	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:130215813G>A	ENST00000276211.5	+	2	519	c.174G>A	c.(172-174)ctG>ctA	p.L58L	ARHGAP36_ENST00000370922.1_Silent_p.L46L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	58					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TCTCTGAGCTGGAGCGTCTGA	0.532000													41	92					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240977013	240977013	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:240977013C>T	ENST00000366565.1	-	13	1242	c.861G>A	c.(859-861)acG>acA	p.T287T	RGS7_ENST00000366562.4_Silent_p.T287T|RGS7_ENST00000407727.1_Silent_p.T287T|RGS7_ENST00000446183.2_Silent_p.T203T|RGS7_ENST00000331110.7_Silent_p.T261T|RGS7_ENST00000366563.1_Silent_p.T287T|RGS7_ENST00000401882.1_Silent_p.T234T|RGS7_ENST00000348120.2_Silent_p.T234T|RGS7_ENST00000366564.1_Silent_p.T287T	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	287	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.T287T(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AATACTGTTCCGTGTAACTTA	0.433000													5	25					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97800978	97800978	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:97800978C>T	ENST00000297293.5	+	7	1076	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	261	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGCTGCACTTCCTGCACAGGT	0.657000													10	47					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176636777	176636777	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:176636777C>T	ENST00000439151.2	+	5	1422	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	NSD1_ENST00000361032.4_Silent_p.D356D|NSD1_ENST00000354179.4_Silent_p.D190D|NSD1_ENST00000347982.4_Silent_p.D190D	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	459					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CATTTGAAGACTGCACAAATG	0.413000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			19	60					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382656	22382656	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:22382656T>C	ENST00000328795.4	+	1	275	c.184T>C	c.(184-186)Ttt>Ctt	p.F62L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTCTATTTATTTCTGGGCAA	0.458000													7	172					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594433	179594433	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179594433C>T	ENST00000589042.1	-	63	18771	c.18547G>A	c.(18547-18549)Gac>Aac	p.D6183N	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5866N|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4939N|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5866	Ig-like 43.						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)			GTGCCTGCGTCATTTCGAGCT	0.458000													28	98					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203543	56203543	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:56203543T>G	ENST00000361673.3	-	5	4089	c.3876A>C	c.(3874-3876)gaA>gaC	p.E1292D	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1292							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATGCTGCTATTTCAGAGGGGG	0.512000													13	114					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102650354	102650354	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:102650354C>T	ENST00000279441.4	-	2	264	c.228G>A	c.(226-228)ggG>ggA	p.G76G		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	76					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TGTCTAGCTTCCCTGTCACCT	0.483000													3	28					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140869565	140869565	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140869565A>T	ENST00000252087.1	+	1	758	c.758A>T	c.(757-759)gAg>gTg	p.E253V	PCDHGC3_ENST00000308177.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		253	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAATCCCAGAGAATGCACCC	0.527000													14	183					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570256	61570256	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61570256C>T	ENST00000457692.1	+	9	1298	c.965C>T	c.(964-966)tCc>tTc	p.S322F	SERPINB2_ENST00000299502.4_Missense_Mutation_p.S322F	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	322					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GAACTCAGATCCATTCTGAGA	0.453000													10	71					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191635	66191635	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:66191635C>T	ENST00000311034.2	+	7	1450	c.1274C>T	c.(1273-1275)cCt>cTt	p.P425L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	425					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGCACTCCACCTTACACGCCC	0.552000													16	165					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176845732	176845732	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:176845732C>T	ENST00000367654.2	-	21	3441	c.3428G>A	c.(3427-3429)aGg>aAg	p.R1143K	ASTN1_ENST00000424564.2_Missense_Mutation_p.R1135K|ASTN1_ENST00000361833.2_Missense_Mutation_p.R1135K|ASTN1_ENST00000367657.3_Missense_Mutation_p.R1135K			O14525	ASTN1_HUMAN	astrotactin 1	1143	Fibronectin type-III 1.				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						GTCGCTTGGCCTGGAGCGCCG	0.572000													5	52					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76124553	76124553	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:76124553C>T	ENST00000393004.2	-	2	357	c.136G>A	c.(136-138)Gag>Aag	p.E46K	FILIP1_ENST00000237172.7_Missense_Mutation_p.E46K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	46										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						ACATCATCCTCCTTCCTATTT	0.423000													26	168					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130460844	130460844	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:130460844C>T	ENST00000529410.1	+	25	2768	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F	RP11-73O6.3_ENST00000415964.1_RNA|L3MBTL3_ENST00000368136.2_Silent_p.F763F|L3MBTL3_ENST00000361794.2_Silent_p.F763F|L3MBTL3_ENST00000368139.2_Silent_p.F738F|L3MBTL3_ENST00000533560.1_Silent_p.F738F|L3MBTL3_ENST00000526019.1_Silent_p.F738F			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	763	SAM.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCAAAATTTTCAATTCCATCC	0.363000													9	43					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27135119	27135119	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:27135119G>A	ENST00000343060.4	-	1	474	c.413C>T	c.(412-414)cCc>cTc	p.P138L	HOXA1_ENST00000355633.5_Intron	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	138						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGGACCATGGGAGATGAGAG	0.577000													6	79					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332367	70332367	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:70332367G>A	ENST00000338508.4	-	32	4033	c.4034C>T	c.(4033-4035)tCg>tTg	p.S1345L	SHANK2_ENST00000409161.1_Missense_Mutation_p.S748L|SHANK2_ENST00000423696.2_Missense_Mutation_p.S965L|SHANK2_ENST00000449833.2_Missense_Mutation_p.S749L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	965					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.S1345*(1)|p.S749*(1)		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)			CTCGGACGGCGAGCTGTCTGG	0.632000													7	59					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851757	43851757	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:43851757C>T	ENST00000372769.3	+	2	1574	c.1484C>T	c.(1483-1485)tCt>tTt	p.S495F		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	495	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AGCAGTATTTCTTTCCAAATT	0.383000													11	37					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920056	4920056	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:4920056C>T	ENST00000433855.1	+	1	1715	c.849C>T	c.(847-849)tcC>tcT	p.S283S	KCNA6_ENST00000280684.3_Silent_p.S283S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	283						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGCGCTTCTCCGCCTGCCCTA	0.547000										HNSCC(72;0.22)			12	93					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143020464	143020464	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143020464C>T	ENST00000343257.2	+	6	846	c.759C>T	c.(757-759)ttC>ttT	p.F253F	CLCN1_ENST00000495612.1_Intron	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	253					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGTCTGTGTTCTGCGGGGTAT	0.607000													8	75					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315789	30315789	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:30315789C>T	ENST00000375377.1	-	3	3389	c.3288G>A	c.(3286-3288)gtG>gtA	p.V1096V		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1096										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						GGAGGGACTCCACCGCCACCT	0.612000													27	125					0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246584	80246584	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:80246584C>T	ENST00000286794.4	-	1	620	c.448G>A	c.(448-450)Gat>Aat	p.D150N	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	150	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TGCGAGAGATCCCGCTTCATA	0.522000													10	44					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595719	82595719	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82595719G>A	ENST00000423517.2	-	4	3722	c.3385C>T	c.(3385-3387)Cca>Tca	p.P1129S	PCLO_ENST00000333891.8_Missense_Mutation_p.P1129S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1068					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						GGTCCTGATGGTGCAGGTGGC	0.423000													6	53					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41115513	41115513	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:41115513A>G	ENST00000308370.7	+	13	1705	c.1705A>G	c.(1705-1707)Acc>Gcc	p.T569A	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.T22A|LTBP4_ENST00000396819.3_Missense_Mutation_p.T502A|LTBP4_ENST00000204005.9_Missense_Mutation_p.T532A	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	569	Cys-rich.|EGF-like 3.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGCGGCTACACCTGCGCTTG	0.706000													17	64					0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68029430	68029430	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:68029430C>T	ENST00000304271.6	-	4	1435	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	345						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TCTACCTGCTCCGGTGCCTGG	0.637000													5	53					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43508592	43508592	+	Splice_Site	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:43508592T>C	ENST00000400427.1	+	5	970		c.e5+2		UMODL1_ENST00000408989.2_Splice_Site|UMODL1_ENST00000400424.1_Splice_Site|UMODL1_ENST00000408910.2_Splice_Site	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1							cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGGTGCAAGGTTGGGCTTCCC	0.582000													3	18					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854297	12854297	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:12854297G>A	ENST00000332296.7	+	3	624	c.521G>A	c.(520-522)aGg>aAg	p.R174K		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	174										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)		GTTTACCAAAGGAGAGGTTTA	0.413000													44	332					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473201	53473201	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:53473201G>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							ACATTTGTACGGTTTCTCTCC	0.388000													12	55					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848526	73848526	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:73848526G>A	ENST00000523207.1	+	3	1524	c.936G>A	c.(934-936)ctG>ctA	p.L312L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	312					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)			TCAGGATCCTGAAACTCGCCA	0.522000													9	56					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518303	113518303	+	Silent	SNP	C	C	T	rs150965727		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:113518303C>T	ENST00000284601.3	-	4	2912	c.2844G>A	c.(2842-2844)acG>acA	p.T948T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	948					glycogen metabolic process	integral to membrane		p.T948T(3)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCTGATTTCGTAGAAATAG	0.378000													7	67					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940098	22940098	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:22940098G>A	ENST00000397104.3	-	6	2232	c.2233C>T	c.(2233-2235)Ccc>Tcc	p.P745S						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATTTGTAGGGTTTCTTTCCA	0.348000													6	45					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183111824	183111824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:183111824C>T	ENST00000258341.4	+	28	4986	c.4729C>T	c.(4729-4731)Cga>Tga	p.R1577*		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1577	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACTATAACCGAGATATCGA	0.478000													7	46					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409243	56409243	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56409243G>A	ENST00000544374.1	-	1	704	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	OR5AP2_ENST00000302981.1_Silent_p.L225L			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	225					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						AAGATACACAGGTAGGAAATG	0.448000													22	120					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38997933	38997933	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:38997933G>A	ENST00000359357.3	+	91	13492	c.13238G>A	c.(13237-13239)cGg>cAg	p.R4413Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4377Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGGGACAGACGGAATGGGAAG	0.483000											OREG0017409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	76					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137374655	137374655	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:137374655C>T	ENST00000424189.2	-	2	724	c.495G>A	c.(493-495)gcG>gcA	p.A165A	DGKI_ENST00000288490.5_Silent_p.A165A|DGKI_ENST00000453654.1_Intron|DGKI_ENST00000446122.1_Silent_p.A165A			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	165					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						AGTCCAAAGTCGCTCTGGGCT	0.522000													4	53					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	157999217	157999217	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:157999217C>T	ENST00000264428.4	+	2	311	c.41C>T	c.(40-42)tCc>tTc	p.S14F	GLRB_ENST00000541722.1_Missense_Mutation_p.S14F|GLRB_ENST00000509282.1_Missense_Mutation_p.S14F|GLRB_ENST00000512619.1_Missense_Mutation_p.S14F	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	14					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	ATTTTAATTTCCTTGTGGGTG	0.338000													9	30					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196597	133196597	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:133196597G>A	ENST00000388996.4	-	3	915	c.495C>T	c.(493-495)ttC>ttT	p.F165F	KCNQ3_ENST00000519445.1_Silent_p.F165F|KCNQ3_ENST00000521134.1_Silent_p.F45F	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	165					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTCCAAAGATGAAAATAGCAA	0.512000													14	95					0	0	1	0	0
TMCO2	127391	broad.mit.edu	37	1	40713878	40713878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:40713878G>A	ENST00000372766.3	+	1	306	c.213G>A	c.(211-213)tgG>tgA	p.W71*	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	71						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ATGCCTTATGGAAACGAAGTA	0.318000													32	95					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148678	34148678	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:34148678G>A	ENST00000346193.3	-	1	1769	c.1718C>T	c.(1717-1719)cCc>cTc	p.P573L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	573										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						TCGAATCTTGGGAGGCTCCGA	0.517000													8	29					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43862495	43862495	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:43862495T>C	ENST00000389420.3	-	8	1130	c.1131A>G	c.(1129-1131)ttA>ttG	p.L377L	ADAMTS20_ENST00000553158.1_Silent_p.L377L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	377	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATATGGTACCTAAATATGATA	0.313000													7	39					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823557	38823557	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:38823557G>A	ENST00000303592.3	-	2	839	c.581C>T	c.(580-582)tCg>tTg	p.S194L		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	194					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GTCGCGCACCGAAATGACCGC	0.632000													3	38					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196621010	196621010	+	Splice_Site	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:196621010C>A	ENST00000312428.6	-	62	11534		c.e62-1		DNAH7_ENST00000409063.1_Splice_Site	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						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						CTGCAAGCCCCTGAAACACAT	0.348000													5	64					0.014758	0.0147921	1	1	0
CDADC1	81602	broad.mit.edu	37	13	49852543	49852543	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:49852543C>T	ENST00000251108.6	+	7	1221	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	CDADC1_ENST00000444959.1_Missense_Mutation_p.P172S	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	370							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		CAATGCTTTTCCTGTTGGATC	0.413000													31	166					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34513169	34513169	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:34513169G>A	ENST00000242317.4	+	16	1720	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	517					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AGTGGGCACAGAGGAGGGAAA	0.532000									Kartagener syndrome				9	88					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128851780	128851780	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:128851780G>A	ENST00000310343.9	-	15	1535	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	ARHGAP32_ENST00000524655.1_Silent_p.S438S|ARHGAP32_ENST00000392657.3_Silent_p.S163S|ARHGAP32_ENST00000527272.1_Silent_p.S163S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	512	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TATTTGTGATGGAACAATAGT	0.338000													5	57					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104165167	104165167	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:104165167C>T	ENST00000020673.5	-	12	2788	c.2262G>A	c.(2260-2262)ggG>ggA	p.G754G	PSD_ENST00000406432.1_Silent_p.G754G	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	754					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGACGGCAGCCCCAGGCTCGG	0.662000													22	134					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349846	89349846	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:89349846T>G	ENST00000301030.4	-	9	3564	c.3104A>C	c.(3103-3105)aAg>aCg	p.K1035T	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K1035T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1035	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ACTTTTGTCCTTGTCACTGGA	0.393000													10	66					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45972932	45972932	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:45972932G>A	ENST00000348697.2	+	19	2063	c.1916G>A	c.(1915-1917)gGg>gAg	p.G639E	FBLN1_ENST00000327858.6_Missense_Mutation_p.G639E			P23142	FBLN1_HUMAN	fibulin 1	639					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATCACGGAAGGGAACCTGCGG	0.572000													9	61					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395895	47395895	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:47395895G>A	ENST00000310638.4	-	12	1483	c.1452C>T	c.(1450-1452)ccC>ccT	p.P484P	CYP4A11_ENST00000371904.4_Silent_p.P485P|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	484					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.P484P(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGATCCTGGTGGGATCAGGCA	0.567000													34	131					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498736	179498736	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179498736C>T	ENST00000589042.1	-	231	42714	c.42490G>A	c.(42490-42492)Gaa>Aaa	p.E14164K	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5099K|TTN_ENST00000359218.5_Missense_Mutation_p.E5224K|TTN_ENST00000591111.1_Missense_Mutation_p.E12523K|TTN_ENST00000342175.6_Missense_Mutation_p.E5291K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11596K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12523	Fibronectin type-III 2.						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)			TGAGAAAGTTCACAAACAAAA	0.373000													9	106					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628425	51628425	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51628425G>A	ENST00000440804.3	+	1	261	c.194G>A	c.(193-195)gGg>gAg	p.G65E	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G65E	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	65	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TTCCGGGAAGGGGCCAATACA	0.602000													6	72					0	0	1	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442310	89442310	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:89442310G>A	ENST00000492167.1	-	0	146																											TGGAGACAAAGACAGGGTGCC	0.507000													20	78					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77354893	77354893	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:77354893C>T	ENST00000451710.3	-	33	5482	c.5245G>A	c.(5245-5247)Gag>Aag	p.E1749K	TRPM6_ENST00000449912.2_Missense_Mutation_p.E1740K|TRPM6_ENST00000376871.3_Missense_Mutation_p.E582K|TRPM6_ENST00000360774.1_Missense_Mutation_p.E1745K|TRPM6_ENST00000376872.3_Missense_Mutation_p.E700K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E1740K|TRPM6_ENST00000376864.4_Missense_Mutation_p.E1749K			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1745					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGGGAACTCTCCTCCAACCTG	0.463000													12	35					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071878	73071878	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73071878C>T	ENST00000429829.1	-	0	710					NR_001564.2																						ATCCGCGGCCCCGATGGGCCA	0.443000													5	14					0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72455760	72455760	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:72455760G>A	ENST00000309731.7	-	10	816	c.803C>T	c.(802-804)cCa>cTa	p.P268L	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	268						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						ACCCCAGCCTGGCATGGGCCA	0.532000													12	123					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185020	130185020	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:130185020G>A	ENST00000422113.2	-	2	629	c.303C>T	c.(301-303)tcC>tcT	p.S101S		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	101						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTGCTCGATGGAGAAAGGCC	0.488000													4	55					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149479958	149479958	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:149479958G>A	ENST00000378016.2	+	0	1924							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAATGGGCAGGATGTGGGCTT	0.652000													8	36					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092619	151092619	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151092619G>A	ENST00000370335.1	+	3	750	c.483G>A	c.(481-483)atG>atA	p.M161I	MAGEA4_ENST00000276344.2_Missense_Mutation_p.M161I|MAGEA4_ENST00000393920.1_Missense_Mutation_p.M161I|MAGEA4_ENST00000393921.1_Missense_Mutation_p.M161I|MAGEA4_ENST00000360243.2_Missense_Mutation_p.M161I|MAGEA4_ENST00000370337.4_Missense_Mutation_p.M161I|MAGEA4_ENST00000370340.3_Missense_Mutation_p.M161I			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	161	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGAAGATGATCTTTGGCA	0.517000													11	104					0	0	1	0	0
ALG11	440138	broad.mit.edu	37	13	52602476	52602476	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:52602476C>T	ENST00000521508.1	+	4	1234	c.1229C>T	c.(1228-1230)gCt>gTt	p.A410V	ALG11_ENST00000519151.1_3'UTR|UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000523764.1_Silent_p.S22S	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TGTATGGCAGCTGGCACAATT	0.408000													8	74					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73615898	73615898	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:73615898G>A	ENST00000261917.3	-	8	3529	c.2536C>T	c.(2536-2538)Ccg>Tcg	p.P846S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	846					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		ACCTGGGACGGGCTGCTGGCG	0.667000													23	113					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47702402	47702402	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:47702402C>T	ENST00000406134.1	+	12	2060	c.1998C>T	c.(1996-1998)atC>atT	p.I666I	MSH2_ENST00000543555.1_Silent_p.I600I|MSH2_ENST00000233146.2_Silent_p.I666I			P43246	MSH2_HUMAN	mutS homolog 2	666	Interaction with EXO1.				B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTTCCACATCATTACTGGTA	0.294000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	50					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561816	142561816	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142561816G>A	ENST00000392957.2	+	7	1045	c.258G>A	c.(256-258)caG>caA	p.Q86Q	EPHB6_ENST00000442129.1_Silent_p.Q86Q|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	86						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCACCGGGCAGGACAATTGGT	0.637000													26	258					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155560	111155560	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:111155560G>A	ENST00000262839.2	-	3	1777	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	287					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AACTTGGCCAGGTCATGGTAC	0.517000													17	92					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43412875	43412875	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:43412875C>T	ENST00000244533.3	+	12	3128	c.2769C>T	c.(2767-2769)ttC>ttT	p.F923F	ABCC10_ENST00000372530.4_Silent_p.F951F	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	951	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)			TCCCAGTGTTCCCACTGCCCA	0.592000													13	92					0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38417672	38417672	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:38417672G>A	ENST00000207870.3	+	13	1159	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	XYLB_ENST00000542835.1_Missense_Mutation_p.D220N	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	357					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TTCCTGGAGCGATTTCTCTAA	0.567000													12	131					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6913826	6913826	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:6913826C>T	ENST00000312053.4	+	11	1322	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	EMR1_ENST00000450315.3_Missense_Mutation_p.R252W|EMR1_ENST00000250572.8_Missense_Mutation_p.R429W|EMR1_ENST00000381407.5_Missense_Mutation_p.R288W|EMR1_ENST00000381404.4_Missense_Mutation_p.R377W	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	429	Ser/Thr-rich.				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)					TCCGGCTGTTCGGACGGAATA	0.498000													15	143					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38409517	38409517	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:38409517G>A	ENST00000373023.2	-	4	294	c.201C>T	c.(199-201)gtC>gtT	p.V67V	INPP5B_ENST00000373026.1_Silent_p.V67V|INPP5B_ENST00000373021.1_Silent_p.V67V|INPP5B_ENST00000373024.3_Silent_p.V67V	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	67					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGTCCAGAGAGACATCGTCCC	0.607000													9	96					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31362362	31362362	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:31362362C>T	ENST00000542188.1	-	3	515	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	TRPM1_ENST00000559179.1_Missense_Mutation_p.E29K|TRPM1_ENST00000256552.6_Missense_Mutation_p.E51K|TRPM1_ENST00000397795.2_Missense_Mutation_p.E29K	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	29					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTTTCCTCTTCATTTTTGCTG	0.493000													76	323					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30522560	30522560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:30522560G>A	ENST00000375934.4	+	10	830	c.776G>A	c.(775-777)tGg>tAg	p.W259*	TTLL9_ENST00000535842.1_Silent_p.V291V|TTLL9_ENST00000375922.4_Silent_p.V233V|TTLL9_ENST00000310998.4_Silent_p.V256V|TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000375938.4_Silent_p.V291V			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	0	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCGAGGCAGTGGAGACACTCT	0.607000													7	64					0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35255046	35255046	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:35255046G>A	ENST00000360310.1	-	14	2335	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	BAZ1A_ENST00000382422.2_Missense_Mutation_p.R590C|BAZ1A_ENST00000358716.4_Missense_Mutation_p.R558C	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	590					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTGCTCAAACGAAGCTCCATA	0.418000													13	54					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285466	238285466	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:238285466G>A	ENST00000295550.4	-	7	3471	c.3019C>T	c.(3019-3021)Cca>Tca	p.P1007S	COL6A3_ENST00000472056.1_Missense_Mutation_p.P400S|COL6A3_ENST00000392004.3_Missense_Mutation_p.P801S|COL6A3_ENST00000392003.2_Missense_Mutation_p.P600S|COL6A3_ENST00000353578.4_Missense_Mutation_p.P801S|COL6A3_ENST00000347401.3_Missense_Mutation_p.P806S|COL6A3_ENST00000409809.1_Missense_Mutation_p.P801S|COL6A3_ENST00000346358.4_Missense_Mutation_p.P807S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1007	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACTATCTGTGGATGAAGATCT	0.493000													27	177					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31424225	31424225	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:31424225G>A	ENST00000389202.2	+	15	1823	c.1774G>A	c.(1774-1776)Gac>Aac	p.D592N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	592					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGGGGGTCAGGACCTCACCCA	0.652000													8	79					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134117698	134117698	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:134117698C>T	ENST00000452510.2	+	8	1125	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	DDX46_ENST00000354283.4_Missense_Mutation_p.H323Y	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	323					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCAGTTGATCATGGAAAAAT	0.343000													4	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179446711	179446711	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179446711G>A	ENST00000589042.1	-	315	66609	c.66385C>T	c.(66385-66387)Cgt>Tgt	p.R22129C	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13064C|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13189C|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R20488C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13256C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19561C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20488	Fibronectin type-III 60.						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)			GCTGTAACACGGAACTCATAT	0.448000													9	89					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40662159	40662159	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:40662159C>T	ENST00000267889.3	+	8	3933	c.3846C>T	c.(3844-3846)ttC>ttT	p.F1282F		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1282					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTGATGGCTTCTGTTCCTCAG	0.632000													7	45					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49763594	49763594	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:49763594C>T	ENST00000249601.4	-	3	532	c.234_splice	c.e3-1	p.G79_splice	ARHGAP22_ENST00000374172.1_5'UTR|ARHGAP22_ENST00000417912.2_Splice_Site_p.G79_splice|ARHGAP22_ENST00000435790.2_Splice_Site_p.G85_splice	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	79	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGAAATAAATCCCTAAAAAGG	0.567000													10	49					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28443892	28443892	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:28443892G>A	ENST00000261609.7	-	49	7848	c.7740C>T	c.(7738-7740)tgC>tgT	p.C2580C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2580					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATACGCTCGGCAGCATCTAA	0.438000													9	87					0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57323229	57323229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:57323229C>T	ENST00000293502.1	-	3	812	c.669G>A	c.(667-669)tgG>tgA	p.W223*		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	223						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GCAGCCTCTCCCAAAGCTTTC	0.567000													16	78					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28878665	28878665	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:28878665C>T	ENST00000375664.3	+	5	856	c.246_splice	c.e5-1	p.P83_splice	WAC_ENST00000347934.4_Splice_Site_p.P128_splice|WAC_ENST00000428935.1_Splice_Site_p.P83_splice|WAC_ENST00000354911.4_Splice_Site_p.P128_splice|WAC_ENST00000375646.1_Splice_Site_p.P83_splice			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	128					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TATTTTTAAGCCTTATGATTC	0.308000													5	73					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7065069	7065069	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:7065069G>A	ENST00000299481.4	+	4	2158	c.1812G>A	c.(1810-1812)aaG>aaA	p.K604K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	604					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTTTCCCAAAGGTTGCCATTA	0.423000													11	75					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040765	88040765	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:88040765G>A	ENST00000319595.4	+	1	920	c.866G>A	c.(865-867)cGg>cAg	p.R289Q		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	289					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ACAAGAGAACGGAAAGCAGCC	0.378000													3	27					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37184923	37184923	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:37184923A>G	ENST00000274258.7	-	25	4678	c.1091T>C	c.(1090-1092)gTt>gCt	p.V364A	C5orf42_ENST00000508244.1_Missense_Mutation_p.V1483A|C5orf42_ENST00000425232.2_Missense_Mutation_p.V1483A			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1483										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTTTTCTTCAACCGACAAAGC	0.393000													14	48					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247719744	247719744	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:247719744G>A	ENST00000366488.4	+	2	169	c.65G>A	c.(64-66)gGa>gAa	p.G22E	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_5'UTR|GCSAML_ENST00000536561.1_Intron|GCSAML_ENST00000527084.1_5'UTR|GCSAML_ENST00000366491.2_Intron	NM_145278.3	NP_660321.1			germinal center-associated, signaling and motility-like																		CCCAAGAAAGGAAACCCAGAT	0.368000													5	16					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133078617	133078617	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:133078617G>A	ENST00000326499.6	-	2	406	c.282C>T	c.(280-282)ttC>ttT	p.F94F	VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525270.1_Silent_p.F41F|VNN2_ENST00000525289.1_Silent_p.F94F	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	94	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CCAGATAAGGGAAAACAGTTT	0.398000													11	39					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31348070	31348070	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:31348070G>A	ENST00000396618.3	+	5	349	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	COCH_ENST00000216361.4_Missense_Mutation_p.R98Q|COCH_ENST00000475087.1_Missense_Mutation_p.R98Q|COCH_ENST00000460581.2_5'UTR|RP11-829H16.3_ENST00000555108.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	98	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)		CTACCTGGTCGAGAAAACTAT	0.433000													5	39					0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54867598	54867598	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:54867598C>T	ENST00000391743.3	-	8	908	c.628G>A	c.(628-630)Gga>Aga	p.G210R	LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000391742.2_Missense_Mutation_p.G228R|LAIR1_ENST00000313038.6_Missense_Mutation_p.G221R|LAIR1_ENST00000474878.1_Missense_Mutation_p.G210R|LAIR1_ENST00000348231.4_Missense_Mutation_p.G211R|LAIR1_ENST00000434277.2_Missense_Mutation_p.G227R			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	228						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCAGGAAGTCCATTGACTGTG	0.488000													8	77					0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4470636	4470636	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4470636G>A	ENST00000325719.4	+	1	112	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCAGGCCTGGAACACCTGCA	0.507000													8	69					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128582375	128582375	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:128582375C>T	ENST00000371122.4	-	24	3205	c.3076G>A	c.(3076-3078)Gaa>Aaa	p.E1026K	SMARCA1_ENST00000371123.1_Missense_Mutation_p.E1014K|SMARCA1_ENST00000371121.3_Missense_Mutation_p.E1014K	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	1026					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCCATATTTTCTTTCTCAATC	0.318000													9	39					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11568276	11568276	+	Missense_Mutation	SNP	G	G	A	rs34253737		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:11568276G>A	ENST00000262442.3	+	15	2790	c.2722G>A	c.(2722-2724)Gaa>Aaa	p.E908K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E908K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	908	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		GTATCTTCTGGAAAATACTGG	0.378000													11	84					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215589	20215589	+	Translation_Start_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20215589G>A	ENST00000331723.1	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGCTTGATGAAAAAAGAAC	0.308000													5	99					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996645	20996645	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20996645A>G	ENST00000261383.3	-	48	7418	c.7419T>C	c.(7417-7419)ctT>ctC	p.L2473L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2473	AAA 4 (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)		TGATCTTCTTAAGATCTTCTC	0.498000													4	28					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47280901	47280901	+	Silent	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:47280901C>A	ENST00000271153.4	+	8	1071	c.1035C>A	c.(1033-1035)gtC>gtA	p.V345V	CYP4B1_ENST00000371923.4_Silent_p.V346V|CYP4B1_ENST00000452782.2_Silent_p.V183V|CYP4B1_ENST00000371919.4_Silent_p.V331V			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	345			V -> I (in allele CYP4B1*6).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GAGAGGAGGTCCGCGAGATCC	0.577000													5	33					0.0215528	0.0215935	1	1	0
EIF4G3	8672	broad.mit.edu	37	1	21307661	21307661	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:21307661G>A	ENST00000602326.1	-	7	694	c.111C>T	c.(109-111)tcC>tcT	p.S37S	EIF4G3_ENST00000374935.3_Silent_p.S30S|EIF4G3_ENST00000356916.3_Silent_p.S41S|EIF4G3_ENST00000400422.1_Silent_p.S30S|EIF4G3_ENST00000374927.4_Silent_p.S30S|EIF4G3_ENST00000374937.3_Silent_p.S37S|EIF4G3_ENST00000264211.8_Silent_p.S30S	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	30					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGGACGAATGGAAGGACTGC	0.488000													4	68					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142263	3142263	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:3142263C>T	ENST00000252463.2	-	2	373	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Intron|ZSCAN10_ENST00000572548.1_Intron	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	96					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CACCCCTTTTCCTCCAAGGTG	0.562000													4	73					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789973	248789973	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248789973C>T	ENST00000330803.2	-	1	518	c.457G>A	c.(457-459)Ggc>Agc	p.G153S		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCAGAAAGCCATCGAGGGAG	0.527000													15	57					0	0	1	0	0
ZNF222	7673	broad.mit.edu	37	19	44536410	44536410	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:44536410C>T	ENST00000187879.8	+	4	745	c.583C>T	c.(583-585)Cac>Tac	p.H195Y	ZNF222_ENST00000391960.3_Missense_Mutation_p.H235Y|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TCAAAGAGTCCACACTGGAGA	0.423000													20	142					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996561	140996561	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140996561C>T	ENST00000285879.4	+	4	3657	c.3371C>T	c.(3370-3372)tCg>tTg	p.S1124L	MAGEC1_ENST00000406005.2_Missense_Mutation_p.S191L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1124							protein binding	p.S1124*(1)		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)					ACAGATGATTCGACTGCCACA	0.483000										HNSCC(15;0.026)			31	60					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103381237	103381237	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:103381237C>T	ENST00000358392.2	-	50	4119	c.3802G>A	c.(3802-3804)Gaa>Aaa	p.E1268K	COL11A1_ENST00000370096.3_Missense_Mutation_p.E1256K|COL11A1_ENST00000512756.1_Missense_Mutation_p.E1140K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1217K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1256	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTCCAGGTTCACCCTATATA	0.358000													4	77					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372732	175372732	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:175372732G>A	ENST00000367674.1	-	4	1228	c.520C>T	c.(520-522)Cac>Tac	p.H174Y	TNR_ENST00000263525.2_Missense_Mutation_p.H174Y	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	174	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCACTGCAGTGAGGGATATAG	0.562000													12	58					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117560981	117560981	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:117560981T>A	ENST00000256652.4	+	6	1874	c.1816T>A	c.(1816-1818)Ttc>Atc	p.F606I	CD101_ENST00000369470.1_Missense_Mutation_p.F606I	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	606	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATGGGGGAATTTCCTATCCCG	0.488000													6	87					0	0	1	0	0
MEF2A	4205	broad.mit.edu	37	15	100211647	100211647	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:100211647C>T	ENST00000338042.6	+	4	697	c.378C>T	c.(376-378)ttC>ttT	p.F126F	MEF2A_ENST00000558812.1_Silent_p.F58F|MEF2A_ENST00000449277.2_Silent_p.F58F|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000557785.1_Silent_p.F126F|MEF2A_ENST00000557942.1_Silent_p.F126F|MEF2A_ENST00000453228.2_Silent_p.F126F			Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	126					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			ATTTTATTTTCAAACGAGGCC	0.373000													11	79					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35584047	35584047	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:35584047G>A	ENST00000287272.2	+	9	1494	c.1474_splice	c.e9+1	p.G492_splice	UNC5D_ENST00000404895.2_Splice_Site_p.G561_splice|UNC5D_ENST00000453357.2_Splice_Site_p.G556_splice|UNC5D_ENST00000420357.1_Splice_Site_p.G494_splice|UNC5D_ENST00000416672.1_Splice_Site_p.G566_splice|UNC5D_ENST00000449677.1_Splice_Site_p.G137_splice			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	561					apoptosis|axon guidance	integral to membrane	receptor activity	p.G556R(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCCAAATACAGGTGGGTGGTA	0.418000													10	165					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15718545	15718545	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:15718545G>A	ENST00000281171.4	+	18	3060	c.2730G>A	c.(2728-2730)aaG>aaA	p.K910K	PTPRO_ENST00000348962.2_Silent_p.K882K|PTPRO_ENST00000544244.1_Silent_p.K71K|PTPRO_ENST00000442921.2_Silent_p.K99K|PTPRO_ENST00000542557.1_Silent_p.K71K|PTPRO_ENST00000445537.2_Silent_p.K99K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	910						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATGGTTTAAAGAAGAGGAAAC	0.254000													6	32					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133119308	133119308	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:133119308A>T	ENST00000302334.2	+	1	470	c.381A>T	c.(379-381)caA>caT	p.Q127H		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	127	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CCCTTGAGCAAGTCAGTCAGG	0.612000													6	54					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388943	4388943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4388943G>A	ENST00000408920.2	-	1	673	c.583C>T	c.(583-585)Cga>Tga	p.R195*		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R195*(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTTTATTCGAATGTCATTA	0.338000													5	57					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94044216	94044216	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94044216G>A	ENST00000553484.1	+	18	2394	c.2240G>A	c.(2239-2241)cGa>cAa	p.R747Q	UNC79_ENST00000393151.2_Missense_Mutation_p.R747Q|UNC79_ENST00000256339.4_Missense_Mutation_p.R570Q|UNC79_ENST00000555664.1_Missense_Mutation_p.R747Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	747						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCTGGCCGACGAGTTCAGCAC	0.443000													35	149					0	0	1	0	0
NPLOC4	55666	broad.mit.edu	37	17	79536077	79536077	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:79536077G>A	ENST00000374747.5	-	14	1543	c.1414C>T	c.(1414-1416)Cct>Tct	p.P472S	NPLOC4_ENST00000539314.1_Missense_Mutation_p.P311S|NPLOC4_ENST00000331134.6_Missense_Mutation_p.P472S			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	472					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)			TTTTCAATAGGAAATGGATTT	0.363000													12	44					0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48379942	48379942	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:48379942C>T	ENST00000264313.6	+	3	986	c.568C>T	c.(568-570)Cct>Tct	p.P190S	SLAIN2_ENST00000512093.1_5'UTR|SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	190						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						ATATAATAATCCTTTCAACTC	0.398000													14	29					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177249566	177249566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:177249566G>A	ENST00000361539.4	+	8	1566	c.1254G>A	c.(1252-1254)tgG>tgA	p.W418*	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		418						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCTACTGGTGGAACCGAATCC	0.507000													12	93					0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949780	45949780	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:45949780G>A	ENST00000531526.1	+	13	1918	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K	GYLTL1B_ENST00000325468.5_Missense_Mutation_p.E603K|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.E603K|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.E572K|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.E572K	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	603					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCGCTGGCGGGAGGCTCAGGC	0.657000													6	128					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347172	71347172	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:71347172C>T	ENST00000413702.1	+	4	999	c.711C>T	c.(709-711)gcC>gcT	p.A237A	MUC7_ENST00000456088.1_Silent_p.A237A|MUC7_ENST00000304887.5_Silent_p.A237A	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	237	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)			CCACAGCTGCCCCACCCACAC	0.592000													8	89					0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799036	57799036	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:57799036C>T	ENST00000302622.3	+	1	635	c.612C>T	c.(610-612)ttC>ttT	p.F204F	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CTGTGGATTTCCTGGTGTCTC	0.522000													9	94					0	0	1	0	0
SSX9	280660	broad.mit.edu	37	X	48159134	48159134	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:48159134C>T	ENST00000376909.1	-	6	461	c.399G>A	c.(397-399)caG>caA	p.Q133Q	SSX9_ENST00000407081.2_Silent_p.Q133Q																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TCCCATCGTTCTGTAAGCCAG	0.463000													50	91					0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139572095	139572095	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:139572095C>T	ENST00000263552.6	+	6	692	c.154C>T	c.(154-156)Cct>Tct	p.P52S	TBXAS1_ENST00000539806.1_Missense_Mutation_p.P52S|TBXAS1_ENST00000336425.5_Missense_Mutation_p.P51S|TBXAS1_ENST00000455353.1_Missense_Mutation_p.P51S|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000416849.2_Missense_Mutation_p.P52S|TBXAS1_ENST00000458722.1_Missense_Mutation_p.P51S|TBXAS1_ENST00000448866.1_Missense_Mutation_p.P51S|TBXAS1_ENST00000414508.2_Missense_Mutation_p.P52S|TBXAS1_ENST00000411653.1_Missense_Mutation_p.P51S|TBXAS1_ENST00000436047.2_Missense_Mutation_p.P52S|TBXAS1_ENST00000425687.1_5'UTR	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	51					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CAAGCCTTCTCCTTTCATTGG	0.473000													8	69					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421457	105421457	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:105421457G>A	ENST00000333244.5	-	6	607	c.488C>T	c.(487-489)aCc>aTc	p.T163I		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	163	PDZ.					nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAAGAACACGGTTGTACTGAG	0.507000													9	49					0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63257786	63257786	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:63257786T>C	ENST00000540857.1	-	2	300	c.168A>G	c.(166-168)gcA>gcG	p.A56A	HRASLS5_ENST00000539221.1_Silent_p.A66A|HRASLS5_ENST00000301790.4_Silent_p.A66A	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	66										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						GGACCAACGCTGCGAATCCCA	0.537000													58	228					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23902316	23902316	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:23902316G>A	ENST00000355349.3	-	4	484	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	108	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAGCCGTAGCGATCCTTGAGG	0.572000													6	49					0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57505847	57505847	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:57505847C>T	ENST00000278422.4	+	4	398	c.386C>T	c.(385-387)cCc>cTc	p.P129L	TMX2_ENST00000378312.4_Missense_Mutation_p.P91L|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	129	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						ACGTGCAAACCCCCCCTATAT	0.423000													11	117					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830466	61830466	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:61830466G>A	ENST00000280772.1	-	37	10364	c.10173C>T	c.(10171-10173)tcC>tcT	p.S3391S	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)	3391					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						ACTCTGTGATGGACTGGTCGT	0.458000													4	81					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7288818	7288818	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:7288818C>T	ENST00000537408.1	+	5	1333	c.795C>T	c.(793-795)atC>atT	p.I265I	CLSTN3_ENST00000266546.6_Silent_p.I253I			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	253					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACAAAAGGATCGAATATGCAC	0.552000													5	68					0	0	1	0	0
IFFO1	25900	broad.mit.edu	37	12	6660113	6660113	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:6660113G>A	ENST00000336604.4	-	2	869	c.828C>T	c.(826-828)ctC>ctT	p.L276L	IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000356896.4_Silent_p.L276L|IFFO1_ENST00000396840.2_Silent_p.L276L|IFFO1_ENST00000465801.1_5'UTR	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	276						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TCACCTCCTGGAGCTCATTTA	0.607000													16	115					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72037539	72037539	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:72037539G>A	ENST00000355327.3	+	12	2135	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.E667E|THSD4_ENST00000357769.4_Silent_p.E307E			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	667						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGACCCCCGAGGAGGAGCCCT	0.547000													21	201					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037498	75037498	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:75037498T>A	ENST00000326665.5	-	14	4114	c.3896A>T	c.(3895-3897)gAc>gTc	p.D1299V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1299	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCACTCTTTGTCCTCTTCCTC	0.537000													10	189					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059697	9059697	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9059697G>A	ENST00000397910.4	-	3	27952	c.27749C>T	c.(27748-27750)gCc>gTc	p.A9250V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9252	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						TGAAGATGTGGCCTTTGTTGT	0.448000													7	72					0	0	1	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396043	101396043	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:101396043C>T	ENST00000372774.3	-	3	510	c.261G>A	c.(259-261)caG>caA	p.Q87Q	TCEAL6_ENST00000372773.1_Silent_p.Q87Q	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						CTGGCTTTGCCTGGGAGGCTG	0.602000													28	128					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179530429	179530429	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:179530429C>T	ENST00000367615.4	-	3	514	c.446G>A	c.(445-447)gGc>gAc	p.G149D	NPHS2_ENST00000367616.4_Missense_Mutation_p.G149D	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	149					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TTTACCAGGGCCTTTGGCTCT	0.378000													15	201					0	0	1	0	0
PRSS3	5646	broad.mit.edu	37	9	33796694	33796694	+	Missense_Mutation	SNP	G	G	A	rs3831310		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:33796694G>A	ENST00000361005.5	+	2	265	c.265G>A	c.(265-267)Gag>Aag	p.E89K	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Missense_Mutation_p.E32K|PRSS3_ENST00000429677.3_Missense_Mutation_p.E25K|PRSS3_ENST00000342836.4_Missense_Mutation_p.E46K	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	protease, serine, 3	89	Peptidase S1.			Missing (in Ref. 1; CAA50484).	digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CACCTGTGAGGAGAATTCTCT	0.532000													29	116					0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51929070	51929070	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:51929070G>A	ENST00000310914.5	-	4	516	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	152	IQ 2.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGGATGATGCGAACAGCATTG	0.612000													8	87					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299295	58299295	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:58299295C>T	ENST00000377918.3	+	4	3373	c.3347C>T	c.(3346-3348)gCt>gTt	p.A1116V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1116					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAGATGGGTGCTGTTCTTGAG	0.522000													17	181					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206023508	206023508	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:206023508C>T	ENST00000406610.2	+	11	1704	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	PARD3B_ENST00000462231.1_Silent_p.I499I|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Silent_p.I499I|PARD3B_ENST00000351153.1_Silent_p.I499I	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	499	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCTTTGAGATCCCCCTGAATG	0.468000													20	98					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71252859	71252859	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:71252859G>A	ENST00000395275.2	-	7	1075	c.687C>T	c.(685-687)acC>acT	p.T229T	CALN1_ENST00000405452.2_Silent_p.T187T|CALN1_ENST00000329008.5_Silent_p.T187T|CALN1_ENST00000431984.1_Silent_p.T187T|CALN1_ENST00000412588.1_Silent_p.T229T|CALN1_ENST00000395276.2_Silent_p.T187T	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	187						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCCGGACGCAGGTCTGTCTGT	0.532000													11	46					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023412	76023412	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:76023412C>T	ENST00000393004.2	-	5	2357	c.2136G>A	c.(2134-2136)ttG>ttA	p.L712L	FILIP1_ENST00000370020.1_Silent_p.L613L|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.L712L			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	712										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						TAGCTTCTTCCAACCGAAATC	0.418000													22	145					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869605	151869605	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151869605C>T	ENST00000329342.5	+	3	520	c.295C>T	c.(295-297)Cct>Tct	p.P99S		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	99							protein binding	p.P99S(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCACCTTCCCTGACCTGGA	0.557000													20	59					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361366	51361366	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51361366C>T	ENST00000360617.3	+	3	288	c.288C>T	c.(286-288)ttC>ttT	p.F96F	KLK3_ENST00000593997.1_Silent_p.F96F|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000326003.2_Silent_p.F96F|KLK3_ENST00000597483.1_Intron			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	96	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GCCACAGCTTCCCACACCCGC	0.577000													4	28					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26462693	26462693	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:26462693C>T	ENST00000265944.5	+	30	3666	c.3500C>T	c.(3499-3501)tCc>tTc	p.S1167F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1167					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						GTGAAGACTTCCACTTTCAAA	0.368000													10	33					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921159	24921159	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:24921159G>A	ENST00000329468.2	+	1	619	c.145G>A	c.(145-147)Ggc>Agc	p.G49S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCCTTTCCGCGGCCTGTTCCG	0.756000													5	44					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277829	152277829	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152277829G>A	ENST00000368799.1	-	3	9568	c.9533C>T	c.(9532-9534)tCa>tTa	p.S3178L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3178	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)			ACGTGACACTGAGTGCCTGGA	0.562000									Ichthyosis				36	336					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612743	179612743	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179612743G>A	ENST00000360870.5	-	46	14606	c.14384C>T	c.(14383-14385)cCa>cTa	p.P4795L	TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	904	Ig-like 28.						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)			ATCCTGCTTTGGAAATGCTGC	0.468000													7	21					0	0	1	0	0
CDK5	1020	broad.mit.edu	37	7	150754174	150754174	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150754174C>T	ENST00000485972.1	-	2	792	c.111G>A	c.(109-111)ctG>ctA	p.L37L	CDK5_ENST00000297518.4_Silent_p.L37L	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	37	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CATCGTCATCCAGCCTCACCC	0.622000													10	228					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70916954	70916954	+	Silent	SNP	C	C	T	rs139638138	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:70916954C>T	ENST00000322773.4	+	51	3507	c.3405C>T	c.(3403-3405)gcC>gcT	p.A1135A	COL19A1_ENST00000393344.1_Silent_p.A757A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1135					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGTCTCATGCCCATCAGCGCA	0.547000													21	169					0	0	1	0	0
NPAS1	4861	broad.mit.edu	37	19	47542697	47542697	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:47542697C>G	ENST00000602212.1	+	8	1057	c.837C>G	c.(835-837)caC>caG	p.H279Q	NPAS1_ENST00000449844.2_Missense_Mutation_p.H279Q|NPAS1_ENST00000602189.1_Missense_Mutation_p.H104Q|NPAS1_ENST00000439365.2_Missense_Mutation_p.H103Q			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	279					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)		TTCGGGCCCACGCCCTGGGCC	0.682000													17	70					0	0	1	0	0
ASB7	140460	broad.mit.edu	37	15	101188569	101188569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:101188569C>T	ENST00000332783.7	+	6	1644	c.859C>T	c.(859-861)Cga>Tga	p.R287*	ASB7_ENST00000558747.1_Nonsense_Mutation_p.R85*	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	287	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			AATTAAAATTCGACAATGTAT	0.358000													4	38					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048937	143048937	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143048937G>A	ENST00000343257.2	+	23	2933	c.2846G>A	c.(2845-2847)gGc>gAc	p.G949D		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	949					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AAGGTAGAGGGCGAGTTGGAG	0.647000													6	78					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119927556	119927556	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:119927556C>T	ENST00000361035.4	+	5	763	c.480C>T	c.(478-480)tcC>tcT	p.S160S	HAO2_ENST00000325945.3_Silent_p.S147S	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	147	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GGGTAGAATCCCTAGGTTTCA	0.463000													21	94					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98478873	98478873	+	Splice_Site	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:98478873C>G	ENST00000359863.4	+	2	309	c.100_splice	c.e2+1	p.P34_splice	TRRAP_ENST00000446306.3_Splice_Site_p.P34_splice|TRRAP_ENST00000355540.3_Splice_Site_p.P34_splice	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	34					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGAATACACGTGAGTTGAT	0.493000													6	56					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717194	13717194	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:13717194C>T	ENST00000279593.3	-	13	3187	c.2978G>A	c.(2977-2979)aGt>aAt	p.S993N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	993					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACTGCCAATACTATGGGGCCG	0.562000													7	58					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907782	103907782	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:103907782G>A	ENST00000302259.3	+	1	475	c.232G>A	c.(232-234)Gac>Aac	p.D78N	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	78	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity	p.D78N(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		ACTGCAGAAGGACAATGTGGG	0.597000													21	180					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511439	61511439	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:61511439G>A	ENST00000266070.4	-	16	6194	c.5869C>T	c.(5869-5871)Cca>Tca	p.P1957S	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1957S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1957	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGGGACCTGGCATAAAGTTA	0.587000													36	132					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160763644	160763644	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:160763644G>A	ENST00000274547.2	-	7	891	c.674C>T	c.(673-675)tCc>tTc	p.S225F	GABRB2_ENST00000517547.1_Missense_Mutation_p.S65F|GABRB2_ENST00000393959.1_Missense_Mutation_p.S225F|GABRB2_ENST00000520240.1_Missense_Mutation_p.S225F|GABRB2_ENST00000353437.6_Missense_Mutation_p.S225F|GABRB2_ENST00000517901.1_Missense_Mutation_p.S162F	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	225					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)	CAAACCTGTGGAAAAAACAAC	0.373000													10	32					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46914641	46914641	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:46914641C>T	ENST00000378623.1	-	13	1822	c.1580G>A	c.(1579-1581)tGg>tAg	p.W527*		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	527					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGAGTCGGTCCAGTAGAGTTT	0.587000													5	28					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678593	130678593	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:130678593C>T	ENST00000338616.3	+	1	644	c.546C>T	c.(544-546)tcC>tcT	p.S182S		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					AGATTCTCTCCCTCATTAAGC	0.478000													37	141					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56313004	56313004	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56313004G>A	ENST00000443188.1	-	7	2815	c.2105C>T	c.(2104-2106)tCc>tTc	p.S702F	NLRP11_ENST00000592953.1_Missense_Mutation_p.S603F|NLRP11_ENST00000589824.2_Missense_Mutation_p.S648F|NLRP11_ENST00000589093.1_Missense_Mutation_p.S702F|NLRP11_ENST00000360133.3_Missense_Mutation_p.S648F	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	702							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)		CATATTTAGGGAAATGGACGT	0.463000													5	121					0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32362719	32362719	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:32362719G>A	ENST00000454136.3	-	6	1166	c.1162C>T	c.(1162-1164)Cca>Tca	p.P388S	BTNL2_ENST00000414363.1_Missense_Mutation_p.P178S|BTNL2_ENST00000374995.3_Missense_Mutation_p.P294S|BTNL2_ENST00000544175.1_Missense_Mutation_p.P111S|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000374993.1_Missense_Mutation_p.P388S|BTNL2_ENST00000540315.1_Missense_Mutation_p.P178S			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	388						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TGGGGCTGTGGGAACCACCCA	0.577000													14	193					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558546	140558546	+	Missense_Mutation	SNP	G	G	A	rs148140727		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140558546G>A	ENST00000239444.2	+	1	1176	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		311	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E311K(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTGATTTCGAAAAATTTCA	0.383000													6	113					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58980036	58980036	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:58980036C>T	ENST00000361050.3	-	1	388	c.303G>A	c.(301-303)ctG>ctA	p.L101L		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	101	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CCCAGGATTCCAGGATTTCTG	0.453000													24	125					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23937629	23937629	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:23937629G>A	ENST00000402377.3	-	3	363	c.222C>T	c.(220-222)ccC>ccT	p.P74P	ZNF681_ENST00000395385.3_Silent_p.P5P	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACCTACCTGGGGGTTCGGCCA	0.428000													9	57					0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	74013578	74013578	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:74013578C>T	ENST00000331597.4	-	3	448	c.403G>A	c.(403-405)Gga>Aga	p.G135R	P4HA3_ENST00000427714.2_Missense_Mutation_p.G135R	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	135						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CTTGCTGCTCCCTCAAGGTCC	0.522000													11	92					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55925727	55925727	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55925727G>A	ENST00000244728.5	-	26	2711	c.2314C>T	c.(2314-2316)Cca>Tca	p.P772S	COL21A1_ENST00000370819.1_Missense_Mutation_p.P769S|COL21A1_ENST00000535941.1_Missense_Mutation_p.P772S|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.P172S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	772	Collagen-like 5.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGAGGACCTGGATCCCCAGGT	0.502000													7	37					0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51472605	51472605	+	Silent	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:51472605T>A	ENST00000374095.5	-	4	500	c.375A>T	c.(373-375)atA>atT	p.I125I		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	125					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CATCAAGGAATATTGTCGAAC	0.373000													6	51					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147560390	147560390	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:147560390A>G	ENST00000367481.3	+	4	523	c.415A>G	c.(415-417)Aaa>Gaa	p.K139E	STXBP5_ENST00000546097.1_Missense_Mutation_p.K139E|STXBP5_ENST00000367480.3_Missense_Mutation_p.K139E|STXBP5_ENST00000321680.6_Missense_Mutation_p.K139E|STXBP5_ENST00000179882.6_5'UTR	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	139					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ACATTCGCTTAAATTTTGCAG	0.353000													5	49					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154320959	154320959	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:154320959C>T	ENST00000368489.3	+	27	3338	c.3338C>T	c.(3337-3339)cCc>cTc	p.P1113L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1099					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)			TGCATCATGCCCGTGGTTGCC	0.612000													4	23					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	61					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994283	140994283	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140994283T>G	ENST00000285879.4	+	4	1379	c.1093T>G	c.(1093-1095)Ttt>Gtt	p.F365V	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	365							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)					TCAAAGTACTTTTGAGGGTTT	0.488000										HNSCC(15;0.026)			36	89					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083098	9083098	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9083098G>A	ENST00000397910.4	-	1	8920	c.8717C>T	c.(8716-8718)tCt>tTt	p.S2906F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2907	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						AGTTGGTAAAGAAGCGGACTT	0.493000													5	46					0	0	1	0	0
OR2A7	401427	broad.mit.edu	37	7	143956715	143956715	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143956715C>T	ENST00000493325.1	-	1	100	c.7G>A	c.(7-9)Gac>Aac	p.D3N	RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GTTATATTGTCCCCCATATCC	0.433000													18	109					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95574384	95574384	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:95574384G>A	ENST00000526495.1	-	18	2774	c.2483C>T	c.(2482-2484)tCc>tTc	p.S828F	DICER1_ENST00000541352.1_Missense_Mutation_p.S828F|DICER1_ENST00000527414.1_Missense_Mutation_p.S828F|DICER1_ENST00000343455.3_Missense_Mutation_p.S828F|DICER1_ENST00000393063.1_Missense_Mutation_p.S828F			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	828					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CAACTCAATGGATATGGTAAC	0.378000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				7	41					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24505352	24505352	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:24505352G>A	ENST00000264463.4	-	8	1769	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	421	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S421F(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCGATCCAAGGAAAATCTGAA	0.368000										HNSCC(23;0.051)			5	44					0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360233	27360233	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:27360233C>T	ENST00000335524.3	-	3	1490	c.965G>A	c.(964-966)gGg>gAg	p.G322E		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	322										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCTGAGGCCCTGCTTCCTT	0.672000													4	76					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36848055	36848055	+	Missense_Mutation	SNP	G	G	A	rs144671254	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:36848055G>A	ENST00000279024.4	-	11	2804	c.2533C>T	c.(2533-2535)Cgc>Tgc	p.R845C		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	845										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCTTCCAGGCGGCCCAGGCGG	0.632000													7	109					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23868105	23868105	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:23868105C>T	ENST00000405093.3	-	15	1793	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	MYH6_ENST00000356287.3_Missense_Mutation_p.E575K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	575	Myosin head-like.				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)		AAGTGGGCTTCCTGCTTCCCC	0.547000													10	48					0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49913016	49913016	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49913016G>A	ENST00000447857.3	+	15	1358	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	385						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CCAGAAACAGGAAGTGGCAAC	0.488000													13	38					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48391404	48391404	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:48391404G>A	ENST00000380518.3	-	7	680	c.516C>T	c.(514-516)ccC>ccT	p.P172P	COL2A1_ENST00000337299.6_Silent_p.P103P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	172					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CAAgaccagggggaccagggg	0.582000													3	26					0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53925585	53925585	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:53925585G>A	ENST00000371445.3	+	1	514	c.459G>A	c.(457-459)gcG>gcA	p.A153A		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	153	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CCGCCGTGGCGATGCCCAGCC	0.771000													3	10					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77918628	77918628	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:77918628G>A	ENST00000302536.2	+	7	1159	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	336							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GGGAGTGGTGGAAAAACTCAT	0.502000													3	13					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22190073	22190073	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:22190073C>T	ENST00000344041.6	-	18	1689	c.1377G>A	c.(1375-1377)gaG>gaA	p.E459E	RAPGEF5_ENST00000401957.2_Silent_p.E309E	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	309	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GACCAGATGCCTCGAGGGATT	0.403000													19	114					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675914	62675914	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:62675914G>A	ENST00000498273.1	+	4	1763	c.1468G>A	c.(1468-1470)Gga>Aga	p.G490R		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	490										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CTCTGAAACAGGAAAGGTAAA	0.408000													5	58					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44598277	44598277	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:44598277G>A	ENST00000322927.2	-	3	355	c.255C>T	c.(253-255)ctC>ctT	p.L85L	ZNF335_ENST00000426788.1_Intron	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ATGAATCAGGGAGGTAGCTAT	0.582000											OREG0025987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	104					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762435	43762435	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43762435G>A	ENST00000244293.7	-	4	949	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	PSG9_ENST00000593948.1_Missense_Mutation_p.H295Y|PSG9_ENST00000443718.3_Missense_Mutation_p.H295Y|PSG9_ENST00000418820.2_Missense_Mutation_p.H295Y|PSG9_ENST00000270077.3_Missense_Mutation_p.H388Y|PSG9_ENST00000596730.1_Missense_Mutation_p.H202Y|PSG9_ENST00000291752.5_Missense_Mutation_p.H202Y			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	304	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGCCCGCTATGATTTCTAGTA	0.443000													50	236					0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46474123	46474123	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:46474123C>T	ENST00000336915.6	-	2	140	c.71G>A	c.(70-72)gGt>gAt	p.G24D	SKAP1_ENST00000584924.1_Missense_Mutation_p.G24D	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	24					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						ATTCCGCAAACCTTCTGCCAG	0.408000													12	114					0	0	1	0	0
RGS7BP	401190	broad.mit.edu	37	5	63890552	63890552	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:63890552G>A	ENST00000334025.2	+	4	805	c.479G>A	c.(478-480)gGg>gAg	p.G160E		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	160					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GAACCTGGCGGGGGAACCAAG	0.478000													8	71					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48393798	48393798	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:48393798C>T	ENST00000380518.3	-	2	360	c.196G>A	c.(196-198)Gac>Aac	p.D66N	COL2A1_ENST00000337299.6_Intron	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	66	VWFC.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CAGATTATGTCGTCGCAGAGG	0.572000													16	46					0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88123611	88123611	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:88123611G>A	ENST00000507897.1	+	4	359	c.276G>A	c.(274-276)acG>acA	p.T92T	C6ORF165_ENST00000369562.4_Silent_p.T92T			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	92										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGAATTATACGAATCGAGGTA	0.328000													3	34					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542993	28542993	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:28542993C>T	ENST00000452236.2	-	3	2106	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	497	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CACAAAAATTCAGTCCAGTGT	0.443000													18	91					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701919	143701919	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143701919C>T	ENST00000408922.2	+	1	898	c.830C>T	c.(829-831)gCc>gTc	p.A277V		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ATCTTCTATGCCATTGTCACT	0.423000													8	67					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833756	101833756	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:101833756C>T	ENST00000263468.8	+	6	2260	c.1990C>T	c.(1990-1992)Cac>Tac	p.H664Y	KIAA1377_ENST00000537689.1_Missense_Mutation_p.H465Y	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	664							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCAACAATTCCACATTCAAAG	0.368000													6	69					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315671	50315671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:50315671C>T	ENST00000332853.3	-	2	448	c.425G>A	c.(424-426)tGg>tAg	p.W142*	VSTM4_ENST00000298454.3_Nonsense_Mutation_p.W142*	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	142	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GCCATTGGACCAGGCCGTCCA	0.602000													17	47					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108507321	108507321	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:108507321C>T	ENST00000370056.4	-	1	445	c.171G>A	c.(169-171)ctG>ctA	p.L57L	VAV3-AS1_ENST00000438318.1_RNA|VAV3_ENST00000527011.1_Silent_p.L57L|VAV3_ENST00000371846.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	57	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGATCTCCTTCAGGTTGATGG	0.632000													8	32					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10216570	10216570	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10216570C>T	ENST00000418404.3	-	29	4249	c.4086G>A	c.(4084-4086)caG>caA	p.Q1362Q	MYH13_ENST00000570743.1_Silent_p.Q1362Q|MYH13_ENST00000252172.4_Silent_p.Q1362Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1362					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						ACAGCGCCCTCTGCAGCTCGG	0.632000													15	148					0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69260754	69260754	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:69260754G>A	ENST00000551568.1	-	7	922	c.862C>T	c.(862-864)Cct>Tct	p.P288S	CPM_ENST00000546373.1_Missense_Mutation_p.P288S|CPM_ENST00000338356.3_Missense_Mutation_p.P288S	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	288					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCCTCACGAGGATATTTACAG	0.348000													11	55					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810815	123810815	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123810815C>T	ENST00000307033.2	+	1	566	c.492C>T	c.(490-492)atC>atT	p.I164I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CATTGACTATCCAGCTGCCAT	0.483000													5	62					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104973337	104973337	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:104973337G>A	ENST00000507740.1	+	12	2358	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	RIMS2_ENST00000436393.2_Missense_Mutation_p.D694N|RIMS2_ENST00000406091.3_Missense_Mutation_p.D916N|RIMS2_ENST00000262231.10_Missense_Mutation_p.D755N	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	978	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTATGACTGTGATGATGGAAT	0.274000										HNSCC(12;0.0054)			5	70					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118426141	118426141	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:118426141G>A	ENST00000369443.4	-	11	1465	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	GDAP2_ENST00000369442.3_Silent_p.L406L|GDAP2_ENST00000464026.1_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	406	CRAL-TRIO.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AGTTTCTTCAGGAAGTCGGAG	0.358000													13	51					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99364008	99364008	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99364008G>A	ENST00000354593.2	-	4	510	c.407C>T	c.(406-408)tCc>tTc	p.S136F	CYP3A4_ENST00000336411.2_Missense_Mutation_p.S286F			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	286					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ACCTTTGTGGGACTCAGTTTC	0.453000													14	67					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29795930	29795930	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29795930C>T	ENST00000428701.1	+	3	358	c.180C>T	c.(178-180)ttC>ttT	p.F60F	HLA-G_ENST00000376818.3_Silent_p.F60F|HLA-G_ENST00000360323.6_Silent_p.F60F|HLA-G_ENST00000376828.2_Silent_p.F65F|HLA-G_ENST00000376815.3_Silent_p.F60F	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	60	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TCGTGCGGTTCGACAGCGACT	0.687000													6	28					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30138786	30138786	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:30138786G>A	ENST00000376694.4	+	6	1349		c.e6+1		TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15						mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						ATAGATTCAGGTAAACAGCTT	0.428000													5	146					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490893	65490893	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:65490893G>A	ENST00000261883.4	-	9	1897	c.1731C>T	c.(1729-1731)atC>atT	p.I577I		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	577					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						CTTCCAAAGTGATGGGCTTTT	0.512000													7	50					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114267420	114267420	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:114267420G>A	ENST00000369604.1	-	7	1067	c.584C>T	c.(583-585)cCc>cTc	p.P195L	PHTF1_ENST00000393357.2_Missense_Mutation_p.P195L|PHTF1_ENST00000357783.2_Missense_Mutation_p.P195L|PHTF1_ENST00000447664.2_Missense_Mutation_p.P195L|PHTF1_ENST00000369598.1_Intron|PHTF1_ENST00000369600.1_Missense_Mutation_p.P142L|PHTF1_ENST00000369596.2_Missense_Mutation_p.P142L			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	195						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		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)		ACCAATAATGGGTACAGATTC	0.358000													15	65					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55855342	55855342	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:55855342C>T	ENST00000422046.2	-	5	909	c.628G>A	c.(628-630)Ggg>Agg	p.G210R	CES1_ENST00000566555.1_5'UTR|CES1_ENST00000361503.4_Missense_Mutation_p.G210R|CES1_ENST00000360526.3_Missense_Mutation_p.G211R			P23141	EST1_HUMAN	carboxylesterase 1	210					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CCTGGGTTCCCTCCAAAGCTG	0.592000													4	93					0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1256442	1256442	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:1256442G>A	ENST00000540437.1	-	4	533	c.78C>T	c.(76-78)atC>atT	p.I26I	CPSF3L_ENST00000435064.1_Silent_p.I20I|CPSF3L_ENST00000450926.2_Silent_p.I20I|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Silent_p.I20I|CPSF3L_ENST00000545578.1_5'UTR|CPSF3L_ENST00000421495.2_Intron	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	20						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TGGAGACCAGGATGCAGCTTC	0.652000													26	115					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43783023	43783023	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:43783023C>T	ENST00000372476.3	+	15	2642	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	TIE1_ENST00000433781.2_Missense_Mutation_p.R500W|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	855	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAGGTCATCCGGGCCATGAT	0.597000													7	113					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17322555	17322555	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:17322555G>A	ENST00000452699.1	-	15	1632	c.1443C>T	c.(1441-1443)agC>agT	p.S481S	ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000341676.5_Silent_p.S481S|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Silent_p.S486S	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	486					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TCCGCAGTCGGCTCTGGGCGT	0.622000													36	108					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383365	108383365	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:108383365C>T	ENST00000265843.4	-	6	2979	c.2869G>A	c.(2869-2871)Gtt>Att	p.V957I	EXPH5_ENST00000525344.1_Missense_Mutation_p.V950I|EXPH5_ENST00000443411.1_Missense_Mutation_p.V769I|EXPH5_ENST00000428840.1_Missense_Mutation_p.V881I	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	957					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)		TTGACATCAACCACTTCATCA	0.363000													11	138					0	0	1	0	0
C4orf51	646603	broad.mit.edu	37	4	146601490	146601490	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:146601490G>A	ENST00000438731.1	+	1	135	c.135G>A	c.(133-135)gtG>gtA	p.V45V		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	45										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						ATTCTTCCGTGACAACATACA	0.463000													14	56					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141122263	141122263	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:141122263C>T	ENST00000389484.3	-	72	12069	c.11098G>A	c.(11098-11100)Gga>Aga	p.G3700R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3700	LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G3700*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGTTGTCTCCACAGTCGTCC	0.408000										TSP Lung(27;0.18)			13	76					0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	44878037	44878037	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:44878037C>T	ENST00000355387.2	+	2	718	c.268C>T	c.(268-270)Cct>Tct	p.P90S	RNF220_ENST00000372247.2_Missense_Mutation_p.P90S|RNF220_ENST00000361799.2_Missense_Mutation_p.P90S			Q5VTB9	RN220_HUMAN	ring finger protein 220	90					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TGATTTCCCCCCTTCTCTACT	0.517000													40	328					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38179102	38179102	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:38179102C>T	ENST00000407257.1	+	2	891	c.744C>T	c.(742-744)ttC>ttT	p.F248F	RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Silent_p.F248F|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Silent_p.F248F					regulator of microtubule dynamics 2																		TAAAAGATTTCCTTCATCCTC	0.398000													6	74					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476906	57476906	+	Missense_Mutation	SNP	G	G	A	rs144227484		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:57476906G>A	ENST00000371236.2	-	13	1747	c.1484C>T	c.(1483-1485)tCa>tTa	p.S495L	DAB1_ENST00000371234.4_Missense_Mutation_p.S495L|DAB1_ENST00000420954.2_Missense_Mutation_p.S493L|DAB1_ENST00000371231.1_Missense_Mutation_p.S528L|DAB1_ENST00000414851.2_Missense_Mutation_p.S477L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.S409L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	528					cell differentiation|nervous system development			p.S495L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGATGCAGATGATTTGGATGG	0.493000													29	67					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38987589	38987589	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:38987589G>A	ENST00000355481.4	+	42	7017	c.6886G>A	c.(6886-6888)Gaa>Aaa	p.E2296K	RYR1_ENST00000359596.3_Missense_Mutation_p.E2296K|RYR1_ENST00000360985.3_Missense_Mutation_p.E2296K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2296	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			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)	GCAGGACCTGGAAAAGGTGTG	0.637000													9	30					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29088030	29088030	+	RNA	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:29088030A>T	ENST00000564580.1	+	0	200																											CCCCCAAGAAAAACTGTTCAG	0.363000													7	40					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26241127	26241127	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:26241127G>A	ENST00000265944.5	+	3	254	c.88G>A	c.(88-90)Gga>Aga	p.G30R	MYO3A_ENST00000376302.1_Missense_Mutation_p.G30R|MYO3A_ENST00000376301.1_Missense_Mutation_p.G30R|MYO3A_ENST00000543632.1_Missense_Mutation_p.G30R	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	30	Protein kinase.				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						AATTGGCAAAGGAACTTATGG	0.318000													5	35					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143091909	143091909	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143091909C>T	ENST00000275815.3	-	14	2430	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	782	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ACCTGGGTTTCGTATGTGCCA	0.502000													4	37					0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516048	138516048	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:138516048G>A	ENST00000371763.1	-	5	979	c.726C>T	c.(724-726)ttC>ttT	p.F242F		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	242					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ATTCTTTGATGAAGTCTAAAA	0.398000													23	87					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599532	136599532	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:136599532C>T	ENST00000531224.1	-	4	739	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	BCLAF1_ENST00000392348.2_Missense_Mutation_p.E161K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E163K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E161K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E161K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E163K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	163					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			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)		GTTTGTTTTTCCTGAGACCCT	0.433000													15	164					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42797178	42797178	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42797178G>A	ENST00000572681.2	+	16	6329	c.6261G>A	c.(6259-6261)gtG>gtA	p.V2087V	CIC_ENST00000575354.2_Silent_p.V1180V|CIC_ENST00000160740.3_Silent_p.V1178V			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCAGAAAGTGAAGGCAGCCA	0.657000			"""Mis, F, S"""		oligodendroglioma								4	42					0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68688093	68688093	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:68688093C>T	ENST00000283916.6	-	10	1317	c.1219G>A	c.(1219-1221)Gcc>Acc	p.A407T	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A290T|RP11-453E17.1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	407	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCAAGGTAGGCTGTCACTCGA	0.493000													18	93					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179633550	179633550	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179633550C>T	ENST00000589042.1	-	38	9237	c.9013G>A	c.(9013-9015)Ggt>Agt	p.G3005S	TTN_ENST00000460472.2_Missense_Mutation_p.G2959S|TTN_ENST00000359218.5_Missense_Mutation_p.G2959S|TTN_ENST00000591111.1_Missense_Mutation_p.G3005S|TTN_ENST00000360870.5_Missense_Mutation_p.G3005S|TTN_ENST00000342175.6_Missense_Mutation_p.G2959S|TTN_ENST00000342992.6_Missense_Mutation_p.G3005S|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2744	Ig-like 17.						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)			ATTTCCACACCATTCTTTAAC	0.403000													7	29					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003605	75003605	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:75003605G>A	ENST00000373359.2	-	1	1474	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	428	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTAAATCTTCGAAGCAAGTTC	0.483000													17	76					0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30409822	30409822	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:30409822C>T	ENST00000320159.2	+	2	1627	c.1251C>T	c.(1249-1251)ccC>ccT	p.P417P		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	417	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CTCGAAGTCCCTCACACTCGG	0.697000													6	45					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673352	141673352	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141673352C>T	ENST00000547270.1	-	1	221	c.138G>A	c.(136-138)aaG>aaA	p.K46K		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	46					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)					GTGCCTGCCTCTTCACTACAT	0.488000													8	80					0	0	1	0	0
EDARADD	128178	broad.mit.edu	37	1	236645764	236645764	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:236645764T>A	ENST00000359362.5	+	6	647	c.433T>A	c.(433-435)Ttc>Atc	p.F145I	EDARADD_ENST00000334232.4_Missense_Mutation_p.F155I	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	155	Death.				cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CGAATTGTGCTTCCTGGAGCA	0.542000													6	94					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712468	121712468	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121712468G>A	ENST00000273691.3	-	6	1101	c.996C>T	c.(994-996)ttC>ttT	p.F332F	ILDR1_ENST00000344209.5_Silent_p.F376F|ILDR1_ENST00000393631.1_Silent_p.F287F|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.F344F	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	376						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCTCCTGGTGGAAATCAGGGT	0.602000													5	57					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31327180	31327180	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:31327180G>A	ENST00000597505.1	-	4	735	c.736C>T	c.(736-738)Cca>Tca	p.P246S	DCDC1_ENST00000452803.1_Missense_Mutation_p.P246S			P59894	DCDC1_HUMAN	doublecortin domain containing 1	246	Doublecortin.				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)					TTTTTGAATGGATTTAAAAAG	0.393000													5	83					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25262521	25262521	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:25262521C>T	ENST00000218548.6	+	4	626	c.293C>T	c.(292-294)cCc>cTc	p.P98L	ATP12A_ENST00000381946.3_Missense_Mutation_p.P98L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	98					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTCACCCCTCCCAAGCAGACG	0.587000													31	265					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064555	78064555	+	Silent	SNP	G	G	A	rs147012103	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:78064555G>A	ENST00000299642.4	+	3	523	c.438G>A	c.(436-438)acG>acA	p.T146T	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Silent_p.T137T|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	137	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						ACATGGTCACGGAAGGCAAGT	0.522000													11	70					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354189	10354189	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10354189C>T	ENST00000255381.2	-	29	3999	c.3889G>A	c.(3889-3891)Gaa>Aaa	p.E1297K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1297					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						GCATCTTTTTCATCTAGCTGT	0.368000													12	56					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141641515	141641515	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:141641515C>T	ENST00000389484.3	-	25	5011	c.4040G>A	c.(4039-4041)gGa>gAa	p.G1347E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1347					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATATGTTTCCTGCTATCCA	0.488000										TSP Lung(27;0.18)			13	99					0	0	1	0	0
TREX1	11277	broad.mit.edu	37	3	48508522	48508522	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:48508522C>T	ENST00000296443.9	+	3	1355	c.468C>T	c.(466-468)atC>atT	p.I156I	TREX1_ENST00000422277.2_Silent_p.I211I|TREX1_ENST00000456089.1_Silent_p.I17I|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000433541.1_Silent_p.I17I|TREX1_ENST00000436480.2_Silent_p.I156I|TREX1_ENST00000444177.1_Silent_p.I146I			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	211					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGGATAGCATCACTGCGCTGA	0.597000													10	59					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46133190	46133190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:46133190G>A	ENST00000371383.2	-	4	1200	c.940C>T	c.(940-942)Caa>Taa	p.Q314*	ENPP5_ENST00000492313.1_5'UTR|ENPP5_ENST00000230565.3_Nonsense_Mutation_p.Q314*			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	314						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATGATTGGTTGAATTCGACTG	0.383000													8	143					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109745	98109745	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:98109745C>T	ENST00000383695.1	+	1	236	c.236C>T	c.(235-237)cCc>cTc	p.P79L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GCTATTACTCCCAAGATGTTA	0.388000													62	215					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419889	10419889	+	Missense_Mutation	SNP	C	C	T	rs61730792	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10419889C>T	ENST00000226207.5	-	3	165	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	24	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R24Q(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCTTCAATTCGCTCCCTTTC	0.507000													12	86					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129040040	129040040	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:129040040G>A	ENST00000274487.4	+	21	3395	c.3250G>A	c.(3250-3252)Gat>Aat	p.D1084N	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1084					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGACTGTGAGGATTATTCAAA	0.458000													9	105					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94931100	94931100	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94931100C>T	ENST00000337425.5	-	4	1122	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N	SERPINA9_ENST00000298845.7_Missense_Mutation_p.D250N|SERPINA9_ENST00000448305.2_Missense_Mutation_p.D252N|SERPINA9_ENST00000380365.3_Missense_Mutation_p.D332N|SERPINA9_ENST00000424550.2_Missense_Mutation_p.D201N|SERPINA9_ENST00000546329.1_Missense_Mutation_p.D314N	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	332					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCATTTTTGTCAAAGACATTT	0.423000													7	63					0	0	1	0	0
SUCLG1	8802	broad.mit.edu	37	2	84652723	84652723	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:84652723G>A	ENST00000393868.2	-	8	1040	c.830C>T	c.(829-831)cCa>cTa	p.P277L	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	277					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CTTGGAATTTGGACCCTAGAA	0.428000													22	99					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166990348	166990348	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:166990348C>T	ENST00000367872.4	+	11	1312	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	MAEL_ENST00000367870.2_Silent_p.F325F|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	356					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GTTCAGGATTCTCTCATTTCA	0.358000													8	38					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42144147	42144147	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:42144147G>A	ENST00000401548.3	+	15	1757	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	MEI1_ENST00000540833.1_Missense_Mutation_p.E313K|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	573							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGCTTTGATGGAAGTTTTCCT	0.498000													3	36					0	0	1	0	0
PRM2	5620	broad.mit.edu	37	16	11370155	11370155	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:11370155C>T	ENST00000435245.2	-	1	182	c.73G>A	c.(73-75)Gag>Aag	p.E25K	PRM2_ENST00000241808.4_Missense_Mutation_p.E25K|RMI2_ENST00000572173.1_Intron			P04554	PRM2_HUMAN	protamine 2	25					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.E25*(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						TGTCCTTGCTCTTGCCCATGC	0.622000													8	57					0	0	1	0	0
DDX25	29118	broad.mit.edu	37	11	125787044	125787044	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:125787044C>T	ENST00000263576.6	+	9	1091	c.936C>T	c.(934-936)atC>atT	p.I312I	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	312	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TGAACAACATCCGGCAATATT	0.478000													4	27					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111078262	111078262	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:111078262C>T	ENST00000262839.2	-	7	2701	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	595					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCGGTGAATTCGTGTCTGGCT	0.418000													73	241					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25023827	25023827	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:25023827C>T	ENST00000400382.1	+	13	1972	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	GGT1_ENST00000400383.1_Missense_Mutation_p.S406F|GGT1_ENST00000400380.1_Missense_Mutation_p.S406F|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404532.1_Missense_Mutation_p.S62F|GGT1_ENST00000404920.1_Missense_Mutation_p.S62F|GGT1_ENST00000248923.4_Missense_Mutation_p.S406F|GGT1_ENST00000404223.1_Missense_Mutation_p.S62F|GGT1_ENST00000403838.1_Missense_Mutation_p.S62F|GGT1_ENST00000401885.1_Missense_Mutation_p.S62F|GGT1_ENST00000406383.2_Missense_Mutation_p.S406F			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	406					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)	AGCTTTGGCTCCAAGGTCCGC	0.592000													5	59					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179418483	179418483	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179418483G>A	ENST00000589042.1	-	334	89473	c.89249C>T	c.(89248-89250)tCc>tTc	p.S29750F	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S20685F|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S20810F|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S28109F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S20877F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27182F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28109	Fibronectin type-III 116.						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)			AAGGGTGATGGATGACTTGGT	0.438000													10	56					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11082807	11082807	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:11082807C>T	ENST00000304623.8	-	16	2978		c.e16+1		CTNND2_ENST00000511377.1_Splice_Site|CTNND2_ENST00000458100.2_Splice_Site|CTNND2_ENST00000495388.2_Splice_Site|CTNND2_ENST00000359640.2_Splice_Site|CTNND2_ENST00000503622.1_Splice_Site	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGAGAACATACCGATGAGCTC	0.507000													11	97					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272885	28272885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:28272885G>A	ENST00000305242.5	-	6	798	c.706C>T	c.(706-708)Cga>Tga	p.R236*	ARMC4_ENST00000239715.3_Nonsense_Mutation_p.R93*	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	236							binding	p.R236*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGTGGGGCTCGACATCCATTT	0.423000													7	37					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116414943	116414943	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:116414943C>T	ENST00000397752.3	+	15	3237	c.3037C>T	c.(3037-3039)Cct>Tct	p.P1013S	MET_ENST00000318493.6_Missense_Mutation_p.P1031S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1013					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGATCAGTTTCCTAATTCATC	0.388000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				5	48					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47759624	47759624	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:47759624G>A	ENST00000489301.2	+	3	422	c.337G>A	c.(337-339)Gga>Aga	p.G113R	OPN5_ENST00000371211.2_Missense_Mutation_p.G113R|OPN5_ENST00000393699.2_Missense_Mutation_p.G113R|OPN5_ENST00000244799.4_3'UTR			Q6U736	OPN5_HUMAN	opsin 5	113					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGGATGGGCTGGATTTTTCTT	0.478000													6	45					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193082053	193082053	+	Missense_Mutation	SNP	C	C	T	rs78621247		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:193082053C>T	ENST00000342358.4	-	2	197	c.80G>A	c.(79-81)cGg>cAg	p.R27Q		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	27					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.R27L(1)|p.R27Q(1)		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)		ATTGTGGTCCCGGTAACCAAA	0.443000													33	143					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122459896	122459896	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:122459896G>A	ENST00000264357.5	+	4	820	c.528G>A	c.(526-528)gcG>gcA	p.A176A	GRIA3_ENST00000371256.5_Silent_p.A176A|GRIA3_ENST00000371251.1_Silent_p.A176A|GRIA3_ENST00000541091.1_Silent_p.A160A|GRIA3_ENST00000542149.1_Silent_p.A176A	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	176					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCCTCCAAGCGATTATGGAAG	0.393000													13	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179647698	179647698	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179647698C>T	ENST00000589042.1	-	18	3159	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K	TTN_ENST00000460472.2_Missense_Mutation_p.E933K|TTN_ENST00000359218.5_Missense_Mutation_p.E933K|TTN_ENST00000591111.1_Missense_Mutation_p.E979K|TTN_ENST00000360870.5_Missense_Mutation_p.E979K|TTN_ENST00000342175.6_Missense_Mutation_p.E933K|TTN_ENST00000342992.6_Missense_Mutation_p.E979K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	979	Ig-like 3.						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)			TGGTAGTCTTCCCTGTACCAT	0.478000													7	84					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95201506	95201506	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:95201506C>T	ENST00000027335.3	-	3	183	c.59G>A	c.(58-60)gGa>gAa	p.G20E	CDH17_ENST00000450165.2_Missense_Mutation_p.G20E|CDH17_ENST00000441892.2_Missense_Mutation_p.G20E	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	20						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)			TTGGCCATATCCAGTTGCCTG	0.383000													6	44					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65907066	65907066	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:65907066G>A	ENST00000321892.4	+	13	3505	c.3444G>A	c.(3442-3444)atG>atA	p.M1148I	BPTF_ENST00000335221.5_Missense_Mutation_p.M1148I|BPTF_ENST00000424123.3_Missense_Mutation_p.M1009I|BPTF_ENST00000306378.6_Missense_Mutation_p.M1022I			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1148					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)			ACGATGACATGAAAACAGAGT	0.363000													8	39					0	0	1	0	0
FADS3	3995	broad.mit.edu	37	11	61647530	61647530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:61647530G>A	ENST00000540820.1	-	2	379	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	FADS3_ENST00000525588.1_Nonsense_Mutation_p.Q103*|FADS3_ENST00000527697.1_5'UTR|FADS3_ENST00000278829.2_Nonsense_Mutation_p.Q103*			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	103					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGTCCATCCTGGCTGGGTTCT	0.592000													6	28					0	0	1	0	0
KCNK17	89822	broad.mit.edu	37	6	39271845	39271845	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:39271845G>A	ENST00000453413.2	-	4	716	c.576C>T	c.(574-576)ttC>ttT	p.F192F	KCNK17_ENST00000373231.4_Silent_p.F192F	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	192						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GCAGCAGCAGGAAGAGCAGGA	0.657000													7	62					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6202197	6202197	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:6202197G>A	ENST00000262450.3	-	15	2526	c.2427C>T	c.(2425-2427)ttC>ttT	p.F809F	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	809	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTTCATACGGAATACCTTCT	0.587000													32	165					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135480119	135480119	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:135480119C>T	ENST00000394143.1	+	20	8555	c.8264C>T	c.(8263-8265)tCc>tTc	p.S2755F	GPR112_ENST00000287534.4_Missense_Mutation_p.S2508F|GPR112_ENST00000394141.1_Missense_Mutation_p.S2550F|GPR112_ENST00000412101.1_Missense_Mutation_p.S2550F|GPR112_ENST00000370652.1_Missense_Mutation_p.S2755F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2755					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)					GGAATCTCCTCCATTTTTCTG	0.398000													14	44					0	0	1	0	0
MATN1	4146	broad.mit.edu	37	1	31188869	31188869	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:31188869G>A	ENST00000373765.4	-	5	1129	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F		NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	365	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGTGAAGGAATTGTCAAT	0.542000													7	124					0	0	1	0	0
DEFB119	245932	broad.mit.edu	37	20	29978284	29978284	+	Translation_Start_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:29978284C>T	ENST00000339144.3	-	1	109	c.3G>A	c.(1-3)atG>atA	p.M1I	DEFB119_ENST00000376315.2_Start_Codon_SNP_p.M1I|DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000376321.3_Start_Codon_SNP_p.M1I			Q8N690	DB119_HUMAN	defensin, beta 119	1					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAAGAAGTTTCATGGCTGGCA	0.532000													20	94					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71493387	71493387	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:71493387C>T	ENST00000296755.7	+	5	4503	c.4205C>T	c.(4204-4206)cCc>cTc	p.P1402L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1402						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CGCAGCCCGCCCCTCATTGGA	0.468000													7	52					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152832157	152832157	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:152832157G>A	ENST00000367255.5	-	7	992	c.391C>T	c.(391-393)Cta>Tta	p.L131L	SYNE1_ENST00000265368.4_Silent_p.L131L|SYNE1_ENST00000423061.1_Silent_p.L138L|SYNE1_ENST00000466159.2_Silent_p.L131L|SYNE1_ENST00000413186.2_Silent_p.L131L|SYNE1_ENST00000448038.1_Silent_p.L138L|SYNE1_ENST00000341594.5_Silent_p.L131L|SYNE1_ENST00000367253.4_Silent_p.L131L|SYNE1_ENST00000367248.3_Silent_p.L138L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	131	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGAAATATAGAATAATGGTC	0.378000										HNSCC(10;0.0054)			14	185					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141128412	141128412	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:141128412C>T	ENST00000389484.3	-	71	11847		c.e71-1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACAGTCCATCTGTTCAAATA	0.363000										TSP Lung(27;0.18)			16	60					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154055871	154055871	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:154055871C>T	ENST00000389740.2	-	4	1912	c.1813G>A	c.(1813-1815)Gat>Aat	p.D605N		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	605						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATGAAGAATCTTCTGAGTTT	0.408000													9	83					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067127	62067127	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:62067127G>A	ENST00000404929.1	-	3	1023	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	FAM161A_ENST00000405894.3_Missense_Mutation_p.R338W	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	338					response to stimulus|visual perception	centrosome		p.R229W(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGCTTTTCCCGGGCTGCTCGC	0.413000													19	91					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39886529	39886529	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:39886529C>T	ENST00000260356.5	+	21	3558	c.3393C>T	c.(3391-3393)atC>atT	p.I1131I		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1131	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GGAAGAAAATCATGGCTGACT	0.393000													10	63					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140282887	140282887	+	Missense_Mutation	SNP	G	G	T	rs140778211		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:140282887G>T	ENST00000458420.3	+	16	2757	c.2567G>T	c.(2566-2568)cGg>cTg	p.R856L		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	856					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TACCGGGTCCGGATCGCCCAC	0.547000										HNSCC(16;0.037)			12	139					0.00185496	0.00186238	1	1	0
CIC	23152	broad.mit.edu	37	19	42794422	42794422	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42794422C>T	ENST00000572681.2	+	11	4297	c.4229C>T	c.(4228-4230)tCc>tTc	p.S1410F	CIC_ENST00000575354.2_Missense_Mutation_p.S501F|CIC_ENST00000160740.3_Missense_Mutation_p.S501F			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTGATCCGTTCCTCCTTTACC	0.622000			"""Mis, F, S"""		oligodendroglioma								23	108					0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122426	153122426	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:153122426T>A	ENST00000368748.4	-	2	199	c.161A>T	c.(160-162)aAa>aTa	p.K54I		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	54					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGGGCATTTATCCTGGCA	0.542000													22	71					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089892	57089892	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:57089892C>T	ENST00000330619.8	+	6	2781	c.2095C>T	c.(2095-2097)Cat>Tat	p.H699Y	ZNF470_ENST00000391709.3_Missense_Mutation_p.H699Y|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	699					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TCAGCGAATTCATACCGGAga	0.423000													7	42					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109395241	109395241	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:109395241C>T	ENST00000370001.3	-	2	314	c.46G>A	c.(46-48)Gat>Aat	p.D16N	AKNAD1_ENST00000369995.3_Missense_Mutation_p.D16N|AKNAD1_ENST00000369994.1_Missense_Mutation_p.D16N|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	16										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TAAGGCAAATCCTCCTGCTTA	0.443000													4	74					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48683289	48683289	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48683289G>A	ENST00000352832.5	+	22	4630	c.4258G>A	c.(4258-4260)Ggc>Agc	p.G1420S	CACNA1G_ENST00000510366.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G1420S|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G1443S|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G1420S|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G1443S|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G1443S|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G1420S|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G1443S|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G1420S|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G1443S|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G1420S|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G1420S|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G1420S|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G1443S	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	1443					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)	CGTGTGCCAGGGCGAGGATAC	0.547000													4	38					0	0	1	0	0
IFI44L	10964	broad.mit.edu	37	1	79101110	79101110	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:79101110G>A	ENST00000370751.4	+	5	991	c.812G>A	c.(811-813)gGa>gAa	p.G271E	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Missense_Mutation_p.G13E	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	271						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GGGGCAGAAGGAGCAGGACTG	0.368000													19	69					0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6758996	6758996	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:6758996C>T	ENST00000378827.4	+	3	1670	c.451C>T	c.(451-453)Cag>Tag	p.Q151*		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	151					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	AGCAGAGCTTCAGGTTTTCCG	0.403000													8	65					0	0	1	0	0
GZMH	2999	broad.mit.edu	37	14	25077568	25077568	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:25077568C>T	ENST00000216338.4	-	2	150	c.106G>A	c.(106-108)Gcc>Acc	p.A36T	GZMH_ENST00000557220.2_Missense_Mutation_p.A36T|RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000382548.4_Missense_Mutation_p.A36T	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	36	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		TGAACAAAGGCCATGTAGGGG	0.552000													14	194					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39521330	39521330	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:39521330A>T	ENST00000265707.5	+	13	1292	c.1247A>T	c.(1246-1248)aAg>aTg	p.K416M	ADAM18_ENST00000379866.1_Missense_Mutation_p.K392M|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	416	Disintegrin.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAATTTAAGAAGTGCTGTGAT	0.299000													6	34					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274201	103274201	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:103274201C>T	ENST00000233969.2	+	2	610	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	156						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCGGCTATTTCATGCCCACTC	0.468000													25	218					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92560235	92560235	+	Missense_Mutation	SNP	G	G	A	rs141144398		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:92560235G>A	ENST00000377067.3	+	6	1697	c.1325G>A	c.(1324-1326)gGa>gAa	p.G442E		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	442						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.G442E(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCCCAGTCTGGAAATCCTGAA	0.373000													8	35					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862622	10862622	+	RNA	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:10862622A>C	ENST00000559480.1	+	0	1																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GCTCCTTACCATGGACTGGAA	0.502000													8	287					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43023318	43023318	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43023318G>A	ENST00000161559.6	-	5	1162	c.1028C>T	c.(1027-1029)tCt>tTt	p.S343F	CEACAM1_ENST00000403444.3_Missense_Mutation_p.S343F|CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000358394.3_Intron|CEACAM1_ENST00000308072.4_Intron|CEACAM1_ENST00000351134.3_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000599389.1_Intron	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	343	Ig-like C2-type 3.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CAGGTTCACAGAGTCCTTATC	0.498000													15	113					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179666930	179666930	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179666930C>T	ENST00000589042.1	-	3	454	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	TTN_ENST00000460472.2_Missense_Mutation_p.R77Q|TTN_ENST00000359218.5_Missense_Mutation_p.R77Q|TTN_ENST00000591111.1_Missense_Mutation_p.R77Q|TTN_ENST00000360870.5_Missense_Mutation_p.R77Q|TTN_ENST00000342175.6_Missense_Mutation_p.R77Q|TTN_ENST00000342992.6_Missense_Mutation_p.R77Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	77	Ig-like 1.						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)			CAGGGAATATCGTCCACTGTT	0.562000													15	104					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004125	75004125	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:75004125G>A	ENST00000373359.2	-	1	954	c.762C>T	c.(760-762)ggC>ggT	p.G254G		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	254	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGCTCTAGAGCCCCACAAGA	0.488000													9	42					0	0	1	0	0
DNAJB12	54788	broad.mit.edu	37	10	74114672	74114672	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:74114672G>A	ENST00000338820.3	-	1	235	c.86C>T	c.(85-87)cCg>cTg	p.P29L	DNAJB12_ENST00000444643.2_5'UTR|DNAJB12_ENST00000394903.2_Missense_Mutation_p.P29L	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	0					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						ACCAGAACGCGGAACCAGGGA	0.697000													4	56					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356489	40356489	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:40356489C>T	ENST00000310169.2	+	5	1531	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	464					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GGATTTTTTTCATTATGGTGT	0.418000													10	101					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44064852	44064852	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:44064852C>T	ENST00000262726.7	-	16	1967	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.D420N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	572					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)				GGTGGGCCATCAATTCCTATG	0.388000													5	66					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2444431	2444431	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:2444431G>A	ENST00000378466.3	-	13	1635	c.1623C>T	c.(1621-1623)gtC>gtT	p.V541V	PANK4_ENST00000435556.3_Silent_p.V502V	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	541					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGGAGCGCACGACCCCGGGGA	0.677000													32	135					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227963478	227963478	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:227963478C>T	ENST00000396625.3	-	19	1343	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G379E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	379	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCTGTTTCTCCATAGCGGCC	0.527000													8	50					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2410255	2410255	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:2410255G>A	ENST00000332578.3	+	8	1015		c.e8-1			NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9						proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CATTCGGCCAGTGGTCAAGCC	0.602000													12	97					0	0	1	0	0
C19orf59	199675	broad.mit.edu	37	19	7743114	7743114	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:7743114C>T	ENST00000333598.3	+	3	763	c.309C>T	c.(307-309)ttC>ttT	p.F103F	C19orf59_ENST00000597445.1_Silent_p.F60F	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN	chromosome 19 open reading frame 59	103						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						TGTCAGCCTTCATCATGGTGA	0.567000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	124					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657293	40657293	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:40657293C>T	ENST00000406785.1	-	2	317	c.128G>A	c.(127-129)gGa>gAa	p.G43E	SLC8A1_ENST00000408028.2_Missense_Mutation_p.G43E|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G43E|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G43E|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G43E|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G43E			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	43					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTTTCATTTCCTTCTCCTTC	0.413000													4	91					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18732255	18732255	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:18732255C>T	ENST00000513874.1	-	16	2658	c.2519G>A	c.(2518-2520)cGa>cAa	p.R840Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	838	Fibronectin type-III 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTTCTTCCTTCGTTCTACAAT	0.567000													12	63					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115573855	115573855	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:115573855G>A	ENST00000371900.4	+	4	435	c.346_splice	c.e4-1	p.G116_splice		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	116					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TTTTTTCCAGGTGTGGGAATT	0.284000													12	64					0	0	1	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36235043	36235043	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:36235043G>A	ENST00000412391.2	-	6	365	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	U2AF1L4_ENST00000378975.3_Missense_Mutation_p.R79W|AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.R79W			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	118	RRM.				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTCCCTCCGGAACTGCAGG	0.572000													5	21					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362521	9362521	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9362521T>C	ENST00000456448.1	+	1	916	c.802T>C	c.(802-804)Tta>Cta	p.L268L		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AGTTGTTTGCTTATTTTATGG	0.473000													3	25					0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	131762655	131762655	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:131762655C>T	ENST00000370836.2	-	4	1829	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	HS6ST2_ENST00000521489.1_Missense_Mutation_p.E512K|HS6ST2_ENST00000370837.1_Missense_Mutation_p.E326K|HS6ST2_ENST00000406696.3_Missense_Mutation_p.E198K|HS6ST2_ENST00000370833.2_Missense_Mutation_p.E366K	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	472						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TTTTGAATTTCCTCATTGATC	0.388000													29	102					0	0	1	0	0
PCMTD2	55251	broad.mit.edu	37	20	62904719	62904719	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:62904719C>T	ENST00000308824.6	+	6	979	c.852C>T	c.(850-852)cgC>cgT	p.R284R	PCMTD2_ENST00000369758.3_Silent_p.R257R|PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.6_Silent_p.R60R	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	284	Poly-Arg.					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAGTTCGCCGCCGTCGAATGG	0.463000													17	84					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457472	110457472	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110457472G>A	ENST00000378402.5	+	38	5478	c.5374G>A	c.(5374-5376)Gag>Aag	p.E1792K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1792	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGAGCAATAGAGGTTAATGA	0.418000										HNSCC(38;0.096)			10	64					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4935359	4935359	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:4935359C>T	ENST00000345988.2	-	22	3386	c.3297G>A	c.(3295-3297)aaG>aaA	p.K1099K	PPL_ENST00000590782.2_Silent_p.K1097K	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1099					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTCTAGCCTCTTGAGCTTGT	0.632000													15	98					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38904465	38904465	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38904465C>T	ENST00000274276.3	+	9	1547	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	382	Fibronectin type-III 1.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TACAATGTTTCCATCAAGGTG	0.438000													4	24					0	0	1	0	0
KRT14	3861	broad.mit.edu	37	17	39739620	39739620	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39739620C>T	ENST00000167586.6	-	6	1227	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	381	Coil 2.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				AGCTGCTCCTCCACGCTGCCA	0.612000													6	59					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111399776	111399776	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:111399776C>T	ENST00000535254.1	-	19	2390	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000409311.1_Missense_Mutation_p.E795K|BUB1_ENST00000302759.6_Missense_Mutation_p.E795K	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	795					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AAGGCTCCTTCTCCAAGAAGG	0.343000													5	38					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143027984	143027984	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143027984G>A	ENST00000343257.2	+	8	1060	c.973G>A	c.(973-975)Gat>Aat	p.D325N	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	325					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.D325N(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTGGAACAAGGATGCTGGTAA	0.522000													5	115					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690583	77690583	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:77690583G>A	ENST00000521891.2	+	4	3681	c.3233G>A	c.(3232-3234)cGg>cAg	p.R1078Q	ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1052Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1052Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1052Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1052						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			GAGGGCCTACGGAAGCTCCAG	0.498000										HNSCC(33;0.089)			10	135					0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121488495	121488495	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:121488495G>A	ENST00000296600.4	+	2	1193	c.810G>A	c.(808-810)ccG>ccA	p.P270P	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	270						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AGCCCCTTCCGAATGCACAGT	0.542000													8	50					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113418823	113418823	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:113418823G>A	ENST00000297405.5	-	35	5983	c.5739C>T	c.(5737-5739)tcC>tcT	p.S1913S	CSMD3_ENST00000352409.3_Silent_p.S1843S|CSMD3_ENST00000343508.3_Silent_p.S1873S|CSMD3_ENST00000455883.2_Silent_p.S1809S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1913	Sushi 10.					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						TAATTGCTATGGATCCATGGA	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	63					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196759922	196759922	+	Silent	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:196759922C>A	ENST00000312428.6	-	30	4774	c.4674G>T	c.(4672-4674)ggG>ggT	p.G1558G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1558					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						GTAATTTTACCCCAGGAAACA	0.313000													5	44					0.0215528	0.0215935	1	1	0
C6	729	broad.mit.edu	37	5	41186300	41186300	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:41186300G>A	ENST00000263413.3	-	6	862	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	C6_ENST00000475349.1_Intron|C6_ENST00000337836.5_Silent_p.L200L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	200	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCTCCTGCCAGAAAATGAAAC	0.358000													10	31					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381435	156381435	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156381435G>A	ENST00000274532.2	-	2	447	c.391C>T	c.(391-393)Cta>Tta	p.L131L	TIMD4_ENST00000407087.3_Silent_p.L131L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	131						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)			CCTCTCTGTAGATTCAGGCGC	0.507000													6	36					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158614069	158614069	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158614069C>T	ENST00000368148.3	-	30	4492	c.4312G>A	c.(4312-4314)Gat>Aat	p.D1438N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D1438N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1438					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGTCCAAATCGTCCCGTTTC	0.403000													6	56					0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960426	7960426	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:7960426G>A	ENST00000360759.3	-	1	715	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGACAAGAGGATCAACAAGA	0.458000													7	67					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128135017	128135017	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:128135017C>T	ENST00000368250.1	-	5	1030	c.532G>A	c.(532-534)Gat>Aat	p.D178N	THEMIS_ENST00000368248.2_Missense_Mutation_p.D257N|THEMIS_ENST00000543064.1_Missense_Mutation_p.D257N|THEMIS_ENST00000537166.1_Missense_Mutation_p.D222N			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	257	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCGTAAGAATCAGTGATGTCT	0.353000													17	124					0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736789	24736789	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:24736789G>A	ENST00000483544.1	-	0	313					NR_029451.2																						AAGCCCTCCAGGTCCATGGAG	0.567000													4	44					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124743254	124743254	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:124743254G>A	ENST00000397801.1	+	10	1777	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	ROBO3_ENST00000538940.1_Missense_Mutation_p.E507K	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	529	Ig-like C2-type 5.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TTCCACAGGGGAAGCCACATG	0.517000													4	14					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107493	168107493	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:168107493C>T	ENST00000409195.1	+	9	9680	c.9591C>T	c.(9589-9591)atC>atT	p.I3197I	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.I3197I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.I2975I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3022					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						AAGGGGCCATCCCATGTCCAG	0.473000													11	73					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100229530	100229530	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100229530G>A	ENST00000462107.1	-	9	1292	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Intron|TFR2_ENST00000223051.3_Silent_p.F335F			Q9UP52	TFR2_HUMAN	transferrin receptor 2	335					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGAAGGAAGGGAAGCCAGGTG	0.582000													6	69					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990302	63990302	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:63990302C>T	ENST00000370657.4	-	4	1187	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	385					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GTCATTGTATCCCCATGTTGT	0.463000													9	113					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349759	90349759	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:90349759C>T	ENST00000300060.6	-	2	369	c.56G>A	c.(55-57)gGc>gAc	p.G19D		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	19					angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GGCTGCCACGCCCAGGAGGAT	0.627000													12	61					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152832184	152832184	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:152832184C>T	ENST00000367255.5	-	7	965	c.364G>A	c.(364-366)Gtt>Att	p.V122I	SYNE1_ENST00000265368.4_Missense_Mutation_p.V122I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V129I|SYNE1_ENST00000466159.2_Missense_Mutation_p.V122I|SYNE1_ENST00000413186.2_Missense_Mutation_p.V122I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V129I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V122I|SYNE1_ENST00000367253.4_Missense_Mutation_p.V122I|SYNE1_ENST00000367248.3_Missense_Mutation_p.V129I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	122	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCCAAGAACTATTGAGGGT	0.373000										HNSCC(10;0.0054)			11	192					0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414942	21414942	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:21414942C>T	ENST00000534331.1	-	2	328	c.278G>A	c.(277-279)aGa>aAa	p.R93K	C10orf113_ENST00000529198.1_3'UTR|C10orf113_ENST00000377118.4_Missense_Mutation_p.R83K|NEBL_ENST00000417816.2_Intron	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	93										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						GAAGCTGACTCTCCGCAGCCA	0.622000													12	55					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427918	197427918	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:197427918G>A	ENST00000273582.5	-	7	1192	c.647C>T	c.(646-648)cCc>cTc	p.P216L	KIAA0226_ENST00000389665.5_Missense_Mutation_p.P276L|KIAA0226_ENST00000296343.5_Missense_Mutation_p.P276L|KIAA0226_ENST00000449205.1_Missense_Mutation_p.P276L	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	276	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGAAACTGGGGGGGCTTGGAT	0.552000													14	82					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833876	61833876	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:61833876G>A	ENST00000280772.1	-	37	6954	c.6763C>T	c.(6763-6765)Cat>Tat	p.H2255Y	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)	2255					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						GGTGGAGAATGATAAACCATT	0.463000													15	73					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	112888	112888	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:112888G>A	ENST00000262316.6	-	6	822	c.680C>T	c.(679-681)tCc>tTc	p.S227F	RHBDF1_ENST00000454039.2_Missense_Mutation_p.S227F	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	227					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ATCCCTAACGGAGCGGCCCTG	0.642000													12	77					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44253758	44253758	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:44253758G>A	ENST00000371505.4	-	3	911	c.789C>T	c.(787-789)ttC>ttT	p.F263F	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Silent_p.F110F|TCTE1_ENST00000371503.3_Silent_p.F110F	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	263										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACGGTAGGTGAAGAGGAAGA	0.592000													6	92					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773416	141773416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:141773416C>T	ENST00000389484.3	-	13	3010	c.2039G>A	c.(2038-2040)tGg>tAg	p.W680*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	680					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCATCCATCCAGGCCTTCTC	0.408000										TSP Lung(27;0.18)			8	94					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183778092	183778092	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:183778092C>T	ENST00000318351.1	+	9	1330	c.1296C>T	c.(1294-1296)ctC>ctT	p.L432L		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	432						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TCTACCTGCTCTTCATGGCCT	0.562000													17	220					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497628	1497628	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:1497628G>A	ENST00000421627.2	+	2	903	c.769G>A	c.(769-771)Gac>Aac	p.D257N		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	336					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCCTTCGGGGACCTGTCCCT	0.672000													13	111					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70991579	70991579	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:70991579G>A	ENST00000256389.3	-	2	290	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	0					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GTGCATGGCTGACCTTTAGGG	0.537000													8	119					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9266038	9266038	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:9266038G>A	ENST00000318602.7	-	2	495	c.188C>T	c.(187-189)tCc>tTc	p.S63F		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	63				Missing (in Ref. 8; AA sequence).	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)	AGACTCCAAGGAAGCACTTAC	0.542000													5	83					0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140866065	140866065	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:140866065C>T	ENST00000310546.2	+	3	1520	c.776C>T	c.(775-777)tCc>tTc	p.S259F	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	259	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GACATCAGCTCCCTGCCCCTG	0.637000													14	32					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20541109	20541109	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:20541109C>T	ENST00000504154.1	+	19	2130	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	SLIT2_ENST00000503823.1_Silent_p.F618F|SLIT2_ENST00000503837.1_Silent_p.F622F|SLIT2_ENST00000273739.5_Silent_p.F630F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	626					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATGACAGTTTCATAGGACTCA	0.393000													10	37					0	0	1	0	0
CHMP1A	5119	broad.mit.edu	37	16	89715851	89715851	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:89715851G>A	ENST00000397901.3	-	4	416	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	CHMP1A_ENST00000550102.1_Missense_Mutation_p.R54C|CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000535997.2_5'UTR|CHMP1A_ENST00000253475.5_Missense_Mutation_p.P47L	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	54					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		TTCTTCTTGCGGATGGCGTTC	0.582000													8	62					0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148964214	148964214	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:148964214C>T	ENST00000434415.1	+	4	737	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	192					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			ACCAGACATCCTCACCCGGAT	0.547000													5	43					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94057008	94057008	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:94057008G>A	ENST00000297268.6	+	49	3808	c.3337G>A	c.(3337-3339)Gat>Aat	p.D1113N		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1113					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTTTGGTTACGATGGAGACTT	0.547000										HNSCC(75;0.22)			10	86					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43371290	43371290	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43371290G>A	ENST00000436291.2	-	6	1372	c.1256C>T	c.(1255-1257)cCc>cTc	p.P419L	PSG1_ENST00000403380.3_Missense_Mutation_p.P326L|PSG1_ENST00000595356.1_Intron|PSG1_ENST00000595124.1_Intron	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				tagaattcagggaactgtcca	0.408000													19	69					0	0	1	0	0
IL31	386653	broad.mit.edu	37	12	122657205	122657205	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:122657205G>A	ENST00000377035.1	-	3	275	c.249C>T	c.(247-249)atC>atT	p.I83I		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	83						extracellular space	cytokine activity			central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CTGGGCTGTGGATGTTGTTTG	0.512000													8	32					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120707541	120707541	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:120707541C>T	ENST00000527524.2	+	8	1019	c.732C>T	c.(730-732)atC>atT	p.I244I	GRIK4_ENST00000438375.2_Silent_p.I244I			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	244					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)	ACACATACATCTTCACTAATC	0.443000													5	95					0	0	1	0	0
USB1	79650	broad.mit.edu	37	16	58036399	58036399	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:58036399C>T	ENST00000219281.3	+	2	226	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	USB1_ENST00000563149.1_Missense_Mutation_p.P39S|USB1_ENST00000561743.1_5'UTR|USB1_ENST00000423271.3_Missense_Mutation_p.P39S|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000539737.2_Missense_Mutation_p.P39S	NM_024598.3	NP_078874.2			U6 snRNA biogenesis 1																		GAGCCCCCTTCCCAGGCAGAG	0.493000													12	93					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1914070	1914070	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:1914070C>T	ENST00000399161.2	-	13	2506	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E585K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	587					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)		TGGTGCTTTTCCTGTGCCTTG	0.592000													5	47					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531855	50531855	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:50531855C>T	ENST00000374144.3	+	3	1553	c.1265C>T	c.(1264-1266)tCa>tTa	p.S422L	C10orf71_ENST00000323868.4_Missense_Mutation_p.S422L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	422										endometrium(1)	1						GAACAGTTTTCAGAAAACAAT	0.448000													6	105					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951839	46951839	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:46951839G>A	ENST00000311124.4	-	3	565	c.413C>T	c.(412-414)tCc>tTc	p.S138F	SLC19A1_ENST00000380010.4_Missense_Mutation_p.S138F|SLC19A1_ENST00000485649.2_Missense_Mutation_p.S98F|SLC19A1_ENST00000567670.1_Missense_Mutation_p.S138F	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	138					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GAAGATGTAGGAGGAATAGGC	0.672000													3	10					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732185	92732185	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:92732185G>A	ENST00000379958.2	-	3	3495	c.3226C>T	c.(3226-3228)Cat>Tat	p.H1076Y		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1076						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGAACCGATGGATACTTTCA	0.383000													5	45					0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15519731	15519731	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:15519731G>A	ENST00000382020.4	+	5	842	c.634G>A	c.(634-636)Gga>Aga	p.G212R	TUSC3_ENST00000509380.1_Missense_Mutation_p.G212R|TUSC3_ENST00000506802.1_Missense_Mutation_p.G212R|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000503731.1_Missense_Mutation_p.G212R	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	212					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GTCGCTTGTTGGAGGTTTGCT	0.393000													8	68					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921500	25921500	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:25921500C>T	ENST00000377850.3	-	4	905	c.381G>A	c.(379-381)ctG>ctA	p.L127L	SLC17A2_ENST00000360488.3_Silent_p.L127L|SLC17A2_ENST00000265425.3_Silent_p.L127L			O00624	NPT3_HUMAN	solute carrier family 17, member 2	127					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GGGAAGAGATCAGCAAACCAG	0.468000													5	60					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112420872	112420872	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:112420872G>A	ENST00000302475.4	-	7	1527	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	MCC_ENST00000515367.2_Missense_Mutation_p.P259S|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.P512S	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	322					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTGGCGATGGGAATGTCATTG	0.612000													5	111					0	0	1	0	0
THUMPD2	80745	broad.mit.edu	37	2	39964115	39964115	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:39964115G>A	ENST00000505747.1	-	10	1299	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	THUMPD2_ENST00000260619.6_Silent_p.I394I	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	424							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				AATTGAAAGGGATGTTGCTCT	0.408000													16	79					0	0	1	0	0
FBXO9	26268	broad.mit.edu	37	6	52960377	52960377	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:52960377C>T	ENST00000244426.6	+	11	1322	c.1150C>T	c.(1150-1152)Cat>Tat	p.H384Y	FBXO9_ENST00000370939.3_Missense_Mutation_p.H340Y|FBXO9_ENST00000323557.7_Missense_Mutation_p.H374Y	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	384						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					TCAGAGTTTTCATGTGGGGCT	0.378000													8	50					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746553	95746553	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:95746553G>A	ENST00000311106.3	-	8	1257	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.S293S	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	340	Catalytic.				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)	CGTACCAGGGGGATAGGCCTT	0.537000													40	148					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032328	30032328	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:30032328C>T	ENST00000328224.6	-	2	3131	c.1898G>A	c.(1897-1899)gGg>gAg	p.G633E		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	633						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACTGTCATCCCCCTTTCCCTG	0.473000													6	88					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905118	55905118	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55905118G>A	ENST00000301529.1	-	1	76	c.77C>T	c.(76-78)cCc>cTc	p.P26L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CAGGAAGAGGGGAATCTGGAG	0.498000													5	94					0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102793024	102793024	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:102793024C>T	ENST00000410023.1	+	12	1833	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	IL1R1_ENST00000233946.3_Silent_p.F505F|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409929.1_Silent_p.F474F|AC007271.3_ENST00000428188.1_RNA			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	505	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CGATTAAATTCATTAAGCAGA	0.438000													6	37					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71204985	71204985	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:71204985C>T	ENST00000554752.2	-	8	1820	c.1821G>A	c.(1819-1821)aaG>aaA	p.K607K	MAP3K9_ENST00000554146.1_Silent_p.K344K|MAP3K9_ENST00000381250.4_Silent_p.K607K|MAP3K9_ENST00000555993.2_Silent_p.K607K|MAP3K9_ENST00000553414.1_Silent_p.K349K			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	607					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGGCAAGCTCCTTCTGACCAA	0.512000													12	66					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147967479	147967479	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:147967479C>T	ENST00000370460.2	+	8	1802	c.1323C>T	c.(1321-1323)acC>acT	p.T441T	AFF2_ENST00000370458.1_Silent_p.T402T|AFF2_ENST00000286437.5_Silent_p.T82T|AFF2_ENST00000342251.3_Silent_p.T408T|AFF2_ENST00000370457.5_Silent_p.T408T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	441					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGAAGACCTTGACCACTC	0.493000													48	149					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508551	106508551	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:106508551C>T	ENST00000359195.3	+	2	855	c.545C>T	c.(544-546)aCc>aTc	p.T182I	PIK3CG_ENST00000496166.1_Missense_Mutation_p.T182I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.T182I	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	182					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGCTTGGTGACCCCGCGCATG	0.647000													10	52					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224344	248224344	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248224344C>T	ENST00000359959.3	+	1	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			GGCCTATGATCGTTACATTGC	0.443000													28	143					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73065338	73065338	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73065338G>A	ENST00000429829.1	-	0	7250					NR_001564.2																						GAAGGGAAAGGAAGATTGGAG	0.463000													8	81					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168065882	168065882	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:168065882G>A	ENST00000367838.1	-	5	1276	c.963C>T	c.(961-963)ccC>ccT	p.P321P	GPR161_ENST00000367836.1_Silent_p.P189P|GPR161_ENST00000361697.2_Silent_p.P321P|GPR161_ENST00000546300.1_Silent_p.P207P|GPR161_ENST00000537209.1_Silent_p.P341P|GPR161_ENST00000367835.1_Silent_p.P321P|GPR161_ENST00000271357.5_Silent_p.P321P|GPR161_ENST00000539777.1_Silent_p.P243P	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	321					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)					CATAGATCAGGGGGTGGCAGA	0.567000													5	82					0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	613253	613253	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:613253C>T	ENST00000251287.2	+	6	1643	c.1590C>T	c.(1588-1590)atC>atT	p.I530I		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	530					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGCAGGAGATCGTCAACTTCA	0.672000													3	19					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564272	176564272	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:176564272C>T	ENST00000367662.3	+	3	2696	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S511F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	511	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAATTGATCTCCCAGTACAAT	0.532000													8	42					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102337715	102337715	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:102337715C>T	ENST00000395065.3	-	8	854	c.753G>A	c.(751-753)ctG>ctA	p.L251L	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Silent_p.L162L	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	251						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CATGGACGTCCAGGGAGGCAG	0.488000													24	71					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26589851	26589851	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:26589851C>T	ENST00000376261.3	+	16	2222	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	GAD2_ENST00000259271.3_Silent_p.F573F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	573					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ACATTGACTTCCTGATTGAAG	0.438000													8	76					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968190	35968190	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:35968190G>A	ENST00000274278.3	-	3	599	c.242C>T	c.(241-243)tCa>tTa	p.S81L	UGT3A1_ENST00000333811.4_Missense_Mutation_p.S27L|UGT3A1_ENST00000503189.1_Missense_Mutation_p.S81L|UGT3A1_ENST00000507113.1_Missense_Mutation_p.S47L|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	81						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCTTCAGGTGAAAACCACCT	0.318000													3	17					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125625	12125625	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:12125625C>T	ENST00000379388.2	+	4	5929	c.5597C>T	c.(5596-5598)tCa>tTa	p.S1866L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1866					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCATCCACATCATTAACTCTT	0.363000													19	62					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41243916	41243916	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:41243916G>A	ENST00000309486.4	-	9	3771	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	BRCA1_ENST00000471181.2_Missense_Mutation_p.S1211F|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.S1211F|BRCA1_ENST00000354071.3_Missense_Mutation_p.S1211F|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.S1164F|BRCA1_ENST00000357654.3_Missense_Mutation_p.S1211F|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1211					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTCTTCTGAGGACTCTAATTT	0.448000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			6	43					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111409716	111409716	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:111409716C>T	ENST00000265162.5	+	2	1006	c.664C>T	c.(664-666)Cat>Tat	p.H222Y		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	222					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GGCCACCGATCATGAACCAAC	0.418000													5	21					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567272	4567272	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4567272C>T	ENST00000360213.1	+	1	852	c.852C>T	c.(850-852)ctC>ctT	p.L284L		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTTCTATCTCCTCATTCCTC	0.463000													5	64					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33016187	33016187	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:33016187C>T	ENST00000280979.4	+	4	2498	c.2328C>T	c.(2326-2328)gcC>gcT	p.A776A	AKAP6_ENST00000557354.1_Silent_p.A776A|AKAP6_ENST00000557272.1_Silent_p.A776A	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	776					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACTATGAAGCCATATGGGAAA	0.393000													5	81					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30745677	30745677	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:30745677C>T	ENST00000217315.5	+	14	1699	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	TM9SF4_ENST00000398022.2_Silent_p.F470F			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	470						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCTACTACTTCGGCTTCCGAA	0.582000													10	159					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216465577	216465577	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:216465577G>A	ENST00000366943.2	-	10	2166	c.1780C>T	c.(1780-1782)Cct>Tct	p.P594S	USH2A_ENST00000366942.3_Missense_Mutation_p.P594S|USH2A_ENST00000307340.3_Missense_Mutation_p.P594S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	594	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCTCAAAAGGAAATGGGTCT	0.433000										HNSCC(13;0.011)			7	84					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133574	22133574	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22133574C>T	ENST00000408935.1	+	1	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	93					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)		AAGACCATTTCCTTTGACAAC	0.438000													28	224					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100348419	100348419	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100348419G>A	ENST00000542585.1	+	0	1569				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGTCCTGCGGGGAGTCCCCCG	0.617000													6	16					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82434986	82434986	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:82434986G>A	ENST00000370728.1	+	17	3281	c.2636G>A	c.(2635-2637)cGa>cAa	p.R879Q	LPHN2_ENST00000370727.1_Missense_Mutation_p.R879Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R879Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R879Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R866Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R879Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R879Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R879Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R866Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R804Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R866Q			O95490	LPHN2_HUMAN	latrophilin 2	879					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R866Q(1)|p.R879Q(1)		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)		CAGAGTGACCGAAATACTATT	0.408000													16	87					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38891805	38891805	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:38891805C>T	ENST00000359357.3	+	71	10432	c.10178C>T	c.(10177-10179)tCc>tTc	p.S3393F	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3357F|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.S3610F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGATTCCTTTCCTACCTTGGT	0.423000													14	86					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848969	73848969	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:73848969G>A	ENST00000523207.1	+	3	1967	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	460					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)			GCCTTCGCTCGAAGTATGGAA	0.512000													18	90					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368779	18368779	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:18368779G>A	ENST00000392413.3	-	4	3530	c.3315C>T	c.(3313-3315)tcC>tcT	p.S1105S	KIAA1683_ENST00000600359.2_Silent_p.S872S|KIAA1683_ENST00000600328.2_Silent_p.S918S	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	1113						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGCCTGCATGGACACCATTG	0.692000													23	107					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167322348	167322348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:167322348G>A	ENST00000409855.1	-	7	940	c.814C>T	c.(814-816)Caa>Taa	p.Q272*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	272					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q272*(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCATTCTCTTGGGGCCATCGA	0.378000													11	63					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164757744	164757744	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:164757744C>T	ENST00000264382.3	-	19	2237	c.2175G>A	c.(2173-2175)acG>acA	p.T725T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	725	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)	TCCAGCTGTTCGTATCCTCAT	0.333000										HNSCC(35;0.089)			9	98					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24185142	24185142	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:24185142C>T	ENST00000396671.2	-	8	936	c.588G>A	c.(586-588)cgG>cgA	p.R196R	THRB_ENST00000280696.5_Silent_p.R211R|THRB_ENST00000356447.4_Silent_p.R196R|THRB_ENST00000416420.1_Silent_p.R196R	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	196					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)	GTCTTTTCTCCCGGTTCTCCT	0.567000													13	58					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38883966	38883966	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38883966C>T	ENST00000274276.3	+	5	858	c.456C>T	c.(454-456)ttC>ttT	p.F152F	OSMR_ENST00000502536.1_Silent_p.F152F	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	152					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGTTCGTTTTCCCTAAAGATA	0.353000													13	46					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100887645	100887645	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:100887645G>A	ENST00000395996.1	+	63	11998		c.e63-1		VPS13B_ENST00000357162.2_Splice_Site|VPS13B_ENST00000358544.2_Splice_Site			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)						protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGGATCCTAGGTAGATGGAG	0.423000													9	152					0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53740875	53740875	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:53740875G>A	ENST00000333952.4	-	5	1270	c.1105C>T	c.(1105-1107)Cat>Tat	p.H369Y	ZNF677_ENST00000598513.1_Missense_Mutation_p.H369Y			Q86XU0	ZN677_HUMAN	zinc finger protein 677	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TCTCCAGTATGAATTCTTTCA	0.408000													12	47					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135649738	135649738	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:135649738G>A	ENST00000520727.1	-	4	677	c.378C>T	c.(376-378)atC>atT	p.I126I	ZFAT_ENST00000520214.1_Silent_p.I126I|ZFAT_ENST00000377838.3_Silent_p.I138I|ZFAT_ENST00000520356.1_Silent_p.I126I|ZFAT_ENST00000523399.1_Silent_p.I138I|ZFAT_ENST00000429442.2_Silent_p.I126I	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AATTCAGCACGATAATGCAGA	0.507000													7	91					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073620	197073620	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:197073620G>A	ENST00000367409.4	-	18	5017	c.4761C>T	c.(4759-4761)atC>atT	p.I1587I	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1587	IQ 3.				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						CCTGAAATTTGATAATAGTCT	0.318000													5	34					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99296284	99296284	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:99296284G>A	ENST00000375241.1	-	9	1322	c.871C>T	c.(871-873)Cct>Tct	p.P291S	CDC14B_ENST00000463569.1_Missense_Mutation_p.P291S|CDC14B_ENST00000375240.3_Missense_Mutation_p.P291S|CDC14B_ENST00000375236.1_Missense_Mutation_p.P291S|CDC14B_ENST00000265659.2_Missense_Mutation_p.P291S|CDC14B_ENST00000375242.3_Missense_Mutation_p.P254S	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	291	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCATCAGTAGGGGTGCTGCCA	0.428000													3	14					0	0	1	0	0
RNGTT	8732	broad.mit.edu	37	6	89554233	89554233	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:89554233G>A	ENST00000369485.4	-	11	1298	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L	RNGTT_ENST00000369475.3_Missense_Mutation_p.P371L|RNGTT_ENST00000538899.1_Missense_Mutation_p.P311L|RNGTT_ENST00000265607.6_Missense_Mutation_p.P371L	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	371	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		ATCTCCAACGGGCTGTGACTG	0.338000													5	75					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161322755	161322755	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:161322755G>A	ENST00000428797.2	+	10	1295	c.940G>A	c.(940-942)Gat>Aat	p.D314N	GABRA1_ENST00000437025.2_Missense_Mutation_p.D314N|GABRA1_ENST00000444819.1_Missense_Mutation_p.D314N|GABRA1_ENST00000420560.1_Missense_Mutation_p.D314N|GABRA1_ENST00000023897.6_Missense_Mutation_p.D314N|GABRA1_ENST00000393943.4_Missense_Mutation_p.D314N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	314					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AACAGCTATGGATTGGTTTAT	0.428000													13	50					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563428	75563428	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:75563428G>A	ENST00000336257.3	-	3	2249	c.855C>T	c.(853-855)ttC>ttT	p.F285F	CHST5_ENST00000541075.1_Silent_p.F291F|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	285					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGCCGCGCAGGAAGGGTGGCG	0.716000													9	91					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195518081	195518081	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:195518081G>A	ENST00000463781.3	-	2	829	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P124S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	129					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACACTGGAGGGAAATGATGTG	0.453000													5	55					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303344	153303344	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:153303344G>A	ENST00000368739.3	-	9	1367	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.P341S			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	341					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTAGTTGGGAGTCAGGTAC	0.547000													5	95					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85406132	85406132	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:85406132G>A	ENST00000258888.5	+	10	5169	c.5002G>A	c.(5002-5004)Gac>Aac	p.D1668N		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1668	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGAAACTACGACGTCACCAT	0.552000													19	68					0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22319543	22319543	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:22319543G>A	ENST00000299853.5	+	4	329	c.162G>A	c.(160-162)caG>caA	p.Q54Q	POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000564209.1_Silent_p.Q54Q|POLR3E_ENST00000418581.2_Silent_p.Q18Q|POLR3E_ENST00000359210.4_Silent_p.Q54Q	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)	54					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)		CCAAGCAGCAGAAGGTGGGGC	0.602000													10	48					0	0	1	0	0
CCL16	6360	broad.mit.edu	37	17	34305272	34305272	+	Missense_Mutation	SNP	G	G	A	rs111316280		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:34305272G>A	ENST00000293275.3	-	2	179	c.104C>T	c.(103-105)tCc>tTc	p.S35F		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	35					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCAGCAGGTGGATGGGGTGTT	0.532000													7	176					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156626166	156626166	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:156626166G>A	ENST00000329117.4	+	9	2371	c.2035G>A	c.(2035-2037)Gac>Aac	p.D679N	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	679	EGF-like.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTATGGGGGGGACCTGTGCGA	0.622000													9	108					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579825	179579825	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179579825G>A	ENST00000589042.1	-	90	26312	c.26088C>T	c.(26086-26088)ttC>ttT	p.F8696F	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.F8379F|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.F7452F|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8379	Ig-like 69.						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)			TACTGGTTAGGAAGTTCTCAG	0.453000													12	206					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131755900	131755900	+	Missense_Mutation	SNP	C	C	T	rs148734941		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:131755900C>T	ENST00000372577.2	+	27	2965	c.2944C>T	c.(2944-2946)Cgt>Tgt	p.R982C		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	982					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCTGCTGCATCGTGCCGCCAT	0.557000													8	55					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366960	248366960	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248366960G>A	ENST00000456743.1	+	1	629	c.591G>A	c.(589-591)aaG>aaA	p.K197K		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K197N(1)		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)			TATTTGAAAAGATTCTTTTCA	0.428000													16	199					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69002947	69002947	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:69002947G>A	ENST00000288368.4	+	20	2524	c.2247G>A	c.(2245-2247)acG>acA	p.T749T	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	749	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.T749T(2)|p.K750*(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGCGGCCAACGAAGGTAAGTG	0.473000													6	38					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10391870	10391870	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:10391870C>T	ENST00000397077.1	-	15	2770	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q	ATP2B2_ENST00000343816.4_Missense_Mutation_p.R763Q|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R777Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R732Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R777Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	777					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTTGTCAATTCGCTCCTGCTC	0.612000													3	17					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41834751	41834751	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:41834751C>T	ENST00000396930.3	-	8	1681	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	KAT6A_ENST00000406337.1_Missense_Mutation_p.E380K|KAT6A_ENST00000485568.1_Missense_Mutation_p.E380K|KAT6A_ENST00000265713.2_Missense_Mutation_p.E380K	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	380	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TATCCTTCTTCTGATGATGAT	0.443000													7	80					0	0	1	0	0
NKG7	4818	broad.mit.edu	37	19	51875762	51875762	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51875762G>A	ENST00000221978.5	-	1	207	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	NKG7_ENST00000595217.1_Silent_p.L10L|NKG7_ENST00000600427.1_Silent_p.L10L	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	10						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GAGCCCCCCAGCAGGGCCAGG	0.602000													7	68					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	60					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81221462	81221462	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:81221462G>A	ENST00000394685.3	+	21	2978	c.2559G>A	c.(2557-2559)agG>agA	p.R853R	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.R853R|KIAA1199_ENST00000356249.5_Silent_p.R853R			Q8WUJ3	K1199_HUMAN	KIAA1199	853										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGACAATAGGATCTGGGGCC	0.527000													11	60					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180721	142180721	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142180721C>T	ENST00000390368.2	-	0	203																											ATTCATGGTTCATATCCTGGG	0.517000													14	499					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940123	31940123	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31940123G>A	ENST00000375331.2	+	2	431	c.265G>A	c.(265-267)Gac>Aac	p.D89N	STK19_ENST00000375333.2_Missense_Mutation_p.D89N	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	89			D -> N (in a metastatic melanoma sample; somatic mutation).			nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(4)		skin(5)|upper_aerodigestive_tract(2)	7						TGCGCCGGAAGACCCTATTTT	0.582000													6	119					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46306716	46306716	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:46306716G>A	ENST00000397850.2	-	16	2634	c.2182C>T	c.(2182-2184)Cac>Tac	p.H728Y	ITGB2_ENST00000302347.5_Missense_Mutation_p.H728Y|ITGB2_ENST00000355153.4_Missense_Mutation_p.H728Y|ITGB2_ENST00000397857.1_Missense_Mutation_p.H728Y|ITGB2_ENST00000397852.1_Missense_Mutation_p.H728Y|ITGB2_ENST00000397854.3_Missense_Mutation_p.H671Y			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	728					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TCGCTCAGGTGGATCAGAGCC	0.622000													11	48					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151085536	151085536	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:151085536C>T	ENST00000474524.1	+	22	3363	c.3325C>T	c.(3325-3327)Ccc>Tcc	p.P1109S	MED12L_ENST00000273432.4_Missense_Mutation_p.P969S|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1109					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)			TGTCGCACTTCCCTCTCTTCT	0.453000													14	150					0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51007790	51007790	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:51007790G>A	ENST00000360719.2	-	19	2433	c.2296C>T	c.(2296-2298)Caa>Taa	p.Q766*	CPT1B_ENST00000440709.1_Nonsense_Mutation_p.Q685*|CPT1B_ENST00000457250.1_Nonsense_Mutation_p.Q732*|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Nonsense_Mutation_p.Q561*|CPT1B_ENST00000395650.2_Nonsense_Mutation_p.Q766*|CPT1B_ENST00000405237.3_Nonsense_Mutation_p.Q766*|CPT1B_ENST00000312108.7_Nonsense_Mutation_p.Q766*	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	766					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TTGGGAACTTGGAAAAGATCA	0.547000													7	114					0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130744046	130744046	+	Silent	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:130744046A>C	ENST00000264992.3	-	3	546	c.105T>G	c.(103-105)ctT>ctG	p.L35L	ASTE1_ENST00000514044.1_Silent_p.L35L	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	35					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GACGGTGGAAAAGAGCATAAC	0.388000													37	111					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243721	56243721	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56243721C>T	ENST00000332836.2	-	2	1503	c.1476G>A	c.(1474-1476)ggG>ggA	p.G492G		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	492						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACATGAATATCCCCACCTGGG	0.463000													13	101					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540061	28540061	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:28540061C>T	ENST00000452236.2	-	4	4222	c.3605G>A	c.(3604-3606)gGa>gAa	p.G1202E		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1202					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ccacaaatttcctatgcgtgg	0.328000													5	9					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55545306	55545306	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:55545306G>A	ENST00000294383.6	-	60	7104	c.7105C>T	c.(7105-7107)Ccc>Tcc	p.P2369S	USP24_ENST00000407756.1_Missense_Mutation_p.P2209S	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2369					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATGCTAATGGGTGGTCGTTGC	0.458000													24	98					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429879	135429879	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:135429879G>A	ENST00000394143.1	+	6	4305	c.4014G>A	c.(4012-4014)caG>caA	p.Q1338Q	GPR112_ENST00000287534.4_Silent_p.Q1275Q|GPR112_ENST00000394141.1_Silent_p.Q1133Q|GPR112_ENST00000412101.1_Silent_p.Q1133Q|GPR112_ENST00000370652.1_Silent_p.Q1338Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1338					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)					GAAGCACACAGATTACACCAA	0.458000													18	81					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114441696	114441696	+	Silent	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:114441696T>A	ENST00000375478.3	-	6	1779	c.1599A>T	c.(1597-1599)ggA>ggT	p.G533G	NXPE4_ENST00000424261.2_Silent_p.G249G	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TAATCTGATTTCCGACTACAT	0.318000													12	40					0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31583432	31583432	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:31583432G>A	ENST00000356173.3	-	8	619	c.527C>T	c.(526-528)tCc>tTc	p.S176F	SUN5_ENST00000375523.3_Missense_Mutation_p.S151F	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	176					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CACCTCATCGGACATGGCTTC	0.483000													6	146					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169792790	169792790	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:169792790A>G	ENST00000263817.6	-	22	2888	c.2764T>C	c.(2764-2766)Ttg>Ctg	p.L922L		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	922	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AATCCTGTCAACATCCTGGTC	0.502000													9	37					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262110	158262110	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158262110C>T	ENST00000368170.3	+	3	844	c.565C>T	c.(565-567)Ctc>Ttc	p.L189F		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	189					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCCCCGATTTCTCTTGGGTCT	0.453000													32	371					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112765986	112765986	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:112765986G>A	ENST00000295408.4	+	14	2151	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	MERTK_ENST00000409780.1_Missense_Mutation_p.E456K|MERTK_ENST00000421804.2_Missense_Mutation_p.E632K			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	632	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCGGGAGATCGAGGAGTTTCT	0.473000													3	59					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414721	105414721	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:105414721G>A	ENST00000333244.5	-	7	7186	c.7067C>T	c.(7066-7068)tCc>tTc	p.S2356F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2356						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCTGCATGGAGGGGAGGCT	0.617000													49	166					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904277	73904277	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:73904277C>T	ENST00000342056.2	+	15	2394	c.1996C>T	c.(1996-1998)Cca>Tca	p.P666S	KCNQ5_ENST00000414165.2_Missense_Mutation_p.P537S|KCNQ5_ENST00000403813.2_Missense_Mutation_p.P638S|KCNQ5_ENST00000402622.2_Missense_Mutation_p.P657S|KCNQ5_ENST00000370398.1_Missense_Mutation_p.P647S|KCNQ5_ENST00000355635.3_Missense_Mutation_p.P648S|KCNQ5_ENST00000355194.4_Missense_Mutation_p.P647S	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	647					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ATTCCAGATCCCACCTTTTGA	0.483000													4	68					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511188	4511188	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:4511188C>T	ENST00000301286.3	-	3	2741	c.2742G>A	c.(2740-2742)aaG>aaA	p.K914K		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	914	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGACGGTGTCCTTGGTACCGG	0.602000													8	93					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20122583	20122583	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:20122583C>T	ENST00000396085.1	+	33	6652	c.6291C>T	c.(6289-6291)atC>atT	p.I2097I	NAV2_ENST00000527559.2_Silent_p.I2082I|NAV2_ENST00000311043.8_Silent_p.I1158I|NAV2_ENST00000349880.4_Silent_p.I2094I|NAV2_ENST00000360655.4_Silent_p.I2030I|NAV2_ENST00000540292.1_Silent_p.I2084I|NAV2_ENST00000533917.1_Silent_p.I1158I|NAV2_ENST00000396087.3_Silent_p.I2153I	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2153						nucleus	ATP binding|helicase activity			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						ACCGTCGGATCATTCTCTCTG	0.572000													18	118					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012881	29012881	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29012881C>T	ENST00000377175.1	-	1	136	c.72G>A	c.(70-72)gaG>gaA	p.E24E		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						ACAGGATCATCTCCATTTTTG	0.408000													10	104					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754487	49754487	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:49754487C>T	ENST00000304801.3	-	1	566	c.414G>A	c.(412-414)aaG>aaA	p.K138K		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	138					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTTTAATCTTCTTTCCAGAGG	0.512000													6	97					0	0	1	0	0
DEFB125	245938	broad.mit.edu	37	20	76939	76939	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:76939C>T	ENST00000382410.2	+	2	352	c.352C>T	c.(352-354)Cct>Tct	p.P118S		NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	118					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			GACCAATACTCCTGAGACTAC	0.458000													26	157					0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131480861	131480861	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:131480861C>T	ENST00000291906.4	+	18	2475	c.2082C>T	c.(2080-2082)gcC>gcT	p.A694A	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	694	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TGCTGGATGCCCAGGGATTCC	0.567000													7	77					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861169	55861169	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55861169C>T	ENST00000302124.2	+	1	417	c.386C>T	c.(385-387)cCc>cTc	p.P129L	OR8I2_ENST00000560768.1_Missense_Mutation_p.P129L			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATCTGCAATCCCTTACTGTAT	0.443000													4	100					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76867787	76867787	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:76867787G>A	ENST00000409709.3	+	6	824	c.552G>A	c.(550-552)tgG>tgA	p.W184*	MYO7A_ENST00000458637.2_Nonsense_Mutation_p.W184*|MYO7A_ENST00000409619.2_Nonsense_Mutation_p.W173*|MYO7A_ENST00000409893.1_Nonsense_Mutation_p.W184*	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	184	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCACTCGTGGATTGAGCAGC	0.637000													8	91					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71026020	71026020	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:71026020G>A	ENST00000393567.2	-	24	3888	c.3738C>T	c.(3736-3738)atC>atT	p.I1246I	HYDIN_ENST00000448089.2_Silent_p.I1198I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1246										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)				CTGTAACTAGGATTGCTGGTG	0.458000													8	32					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151164328	151164328	+	Silent	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:151164328T>G	ENST00000282466.3	-	4	3440	c.3441A>C	c.(3439-3441)ccA>ccC	p.P1147P		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1147					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTATGGATGTTGGAGCATATG	0.413000													17	245					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657761	143657761	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143657761G>A	ENST00000392899.1	+	1	735	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TCCAGAGAAGGAAGAAAGAAA	0.498000													10	81					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38884065	38884065	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38884065G>A	ENST00000274276.3	+	5	957	c.555G>A	c.(553-555)caG>caA	p.Q185Q	OSMR_ENST00000502536.1_Silent_p.Q185Q	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	185					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAGGGAAACAGATTCATGGAG	0.373000													27	74					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148876588	148876588	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:148876588C>T	ENST00000420008.2	+	6	1899	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S	ZNF398_ENST00000335901.4_Missense_Mutation_p.P371S|ZNF398_ENST00000491174.1_Missense_Mutation_p.P371S|ZNF398_ENST00000426851.2_Missense_Mutation_p.P371S|ZNF398_ENST00000483892.1_Missense_Mutation_p.P371S|ZNF398_ENST00000475153.1_Missense_Mutation_p.P542S|ZNF398_ENST00000540950.1_Missense_Mutation_p.P547S	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	542					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTTCAGTTGTCCTCACTGTGG	0.617000													6	93					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261885	125261885	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:125261885C>T	ENST00000431078.1	+	8	1440	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	359	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTCACTTTTTCCTGCTCCGAA	0.463000													17	58					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89866725	89866725	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:89866725G>A	ENST00000268124.5	-	13	2508	c.2175C>T	c.(2173-2175)ccC>ccT	p.P725P	POLG_ENST00000442287.2_Silent_p.P725P	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	725					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGGTGTCCTTGGGGCCACCAC	0.597000								DNA polymerases (catalytic subunits)					6	37					0	0	1	0	0
P2RY4	5030	broad.mit.edu	37	X	69478691	69478691	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:69478691G>A	ENST00000374519.2	-	1	963	c.784C>T	c.(784-786)Cac>Tac	p.H262Y		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	262					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CGGGTGATGTGGAAAGGCACG	0.567000													3	17					0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10587104	10587104	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:10587104C>T	ENST00000381902.2	-	3	318	c.312G>A	c.(310-312)ccG>ccA	p.P104P	KLRC2_ENST00000381901.1_Intron|NKG2-E_ENST00000539033.1_Silent_p.P104P|KLRC2_ENST00000536833.2_Silent_p.P45P	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	104					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TTCTTGTATTCGGGGAAAAAT	0.284000													4	86					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43921606	43921606	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:43921606G>A	ENST00000282406.4	+	5	483	c.373G>A	c.(373-375)Gag>Aag	p.E125K		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	125						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATAATAGAAGAGAAAGCAGC	0.274000													4	57					0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84287021	84287021	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:84287021C>T	ENST00000324537.5	+	12	1542	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000535412.1_3'UTR|SH3GL3_ENST00000434347.1_Silent_p.I350I|SH3GL3_ENST00000427482.2_Silent_p.I342I			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	342					central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGGAAGTGATCGTGCCTTTAC	0.408000													11	54					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43058278	43058278	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:43058278G>A	ENST00000316099.3	+	10	1487	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P	HNF4A_ENST00000415691.1_Silent_p.P456P|HNF4A_ENST00000457232.1_Silent_p.P434P	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	466					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCCCCAGCCGACCATCACCA	0.647000													14	94					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196599729	196599729	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:196599729C>T	ENST00000409086.3	+	10	2735	c.2460C>T	c.(2458-2460)ctC>ctT	p.L820L	SLC39A10_ENST00000359634.5_Silent_p.L820L|SLC39A10_ENST00000541054.1_Silent_p.L370L	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	820					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGATTGCCCTCTATGAAGATA	0.403000													5	80					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21469154	21469154	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:21469154C>T	ENST00000222584.3	+	3	589	c.371C>T	c.(370-372)tCg>tTg	p.S124L		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	124	Poly-Ser.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GCCTCTAGTTCGTCTAGTTCT	0.438000													11	66					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97956793	97956793	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:97956793G>A	ENST00000224337.5	-	16	1263	c.1122C>T	c.(1120-1122)agC>agT	p.S374S	BLNK_ENST00000427367.2_Intron|BLNK_ENST00000371176.2_Silent_p.S351S|BLNK_ENST00000413476.2_Intron	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	374	SH2.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CATGGCCAGAGCTTTTCCGAA	0.274000													6	47					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23716293	23716293	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:23716293G>A	ENST00000256797.4	-	8	1077	c.909C>T	c.(907-909)ttC>ttT	p.F303F	ERN2_ENST00000457008.2_Silent_p.F255F	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	255					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)		GGAGGGCGAGGAAATGCAGAG	0.662000													13	86					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6589218	6589218	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:6589218G>A	ENST00000321612.6	-	12	1707	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	519					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GATGGGTGAGGAACGGGCTGG	0.498000													7	53					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163250930	163250930	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:163250930C>T	ENST00000332142.5	-	12	2778	c.2679G>A	c.(2677-2679)agG>agA	p.R893R		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	893					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)	ATGACAATTTCCTTCTTCTTA	0.333000													5	32					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675173	100675173	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100675173C>T	ENST00000306151.4	+	3	540	c.476C>T	c.(475-477)tCa>tTa	p.S159L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	159	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCATTTCATCAACAATGGCT	0.453000													54	151					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125827	12125827	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:12125827C>T	ENST00000379388.2	+	4	6131	c.5799C>T	c.(5797-5799)ttC>ttT	p.F1933F		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1933					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGCTGGCTTTCCCTAGCCTGA	0.423000													10	116					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058484	56058484	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56058484C>T	ENST00000313022.2	-	1	82	c.55G>A	c.(55-57)Gat>Aat	p.D19N		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TCTTCAGAATCTGACAGTCCC	0.398000													13	80					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47451380	47451380	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:47451380G>A	ENST00000398879.1	-	13	1034	c.668C>T	c.(667-669)cCc>cTc	p.P223L	TNS3_ENST00000355730.3_Missense_Mutation_p.P223L|TNS3_ENST00000311160.9_Missense_Mutation_p.P223L|TNS3_ENST00000442536.2_Missense_Mutation_p.P223L|TNS3_ENST00000458317.2_Missense_Mutation_p.P223L			Q68CZ2	TENS3_HUMAN	tensin 3	223	C2 tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GATCCTGCTGGGGTTTTCTGG	0.517000													6	19					0	0	1	0	0
TRAV17	28666	broad.mit.edu	37	14	22465967	22465967	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22465967C>T	ENST00000390445.2	+	0	190																											TCTATGGCTTCAACTGGCTAG	0.443000													9	35					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234337	21234337	+	Silent	SNP	C	C	T	rs149787297		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21234337C>T	ENST00000233242.1	-	26	5530	c.5403G>A	c.(5401-5403)ctG>ctA	p.L1801L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1801					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L1801L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATTGTATTTCAGGTCACTGT	0.403000													8	110					0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108902601	108902601	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:108902601G>A	ENST00000340800.2	-	16	2464	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	ACSL4_ENST00000469796.2_Nonsense_Mutation_p.R654*|ACSL4_ENST00000348502.6_Nonsense_Mutation_p.R613*	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	654					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.R654*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GCAGCTTCTCGAATTTCTTTC	0.383000													11	64					0	0	1	0	0
PERP	64065	broad.mit.edu	37	6	138413251	138413251	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:138413251G>A	ENST00000421351.3	-	3	680	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	170					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		GGAGGCAGCAGAAGAAGAAGG	0.517000													4	34					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99514947	99514947	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:99514947C>T	ENST00000261037.3	+	5	2582	c.2202C>T	c.(2200-2202)tcC>tcT	p.S734S	COL8A1_ENST00000273342.4_Silent_p.S734S	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	734	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATGTCCACTCCTCCTTTTCAG	0.443000													3	37					0	0	1	0	0
C1orf64	149563	broad.mit.edu	37	1	16332613	16332613	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16332613G>A	ENST00000329454.2	+	2	350	c.282G>A	c.(280-282)cgG>cgA	p.R94R		NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	94										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTGACTCGGGTGACCCCCA	0.637000													8	88					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335417	20335417	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20335417C>T	ENST00000302555.5	-	3	405	c.256G>A	c.(256-258)Gat>Aat	p.D86N	GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.D86N|GP2_ENST00000341642.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	86						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATGTTTTTATCGCACCCCTGG	0.562000													15	75					0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75941881	75941881	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:75941881C>T	ENST00000308527.5	+	1	1635	c.438C>T	c.(436-438)tcC>tcT	p.S146S		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	146					cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TCAACCTCTCCTACCCTGGTG	0.657000													14	60					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597484	136597484	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:136597484C>T	ENST00000531224.1	-	5	1431	c.1179G>A	c.(1177-1179)aaG>aaA	p.K393K	BCLAF1_ENST00000392348.2_Silent_p.K391K|BCLAF1_ENST00000527536.1_Silent_p.K393K|BCLAF1_ENST00000527759.1_Silent_p.K391K|BCLAF1_ENST00000353331.4_Silent_p.K391K|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	393					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			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)		AATCATTAAACTTTTGTTTTC	0.428000													9	410					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2976766	2976766	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:2976766C>T	ENST00000396946.4	-	9	1649	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	416					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATCCTCATCTCGTCGTTCTTC	0.577000			Mis		DLBCL								10	44					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105179309	105179309	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:105179309C>T	ENST00000428173.2	+	21	3953	c.3650C>T	c.(3649-3651)tCt>tTt	p.S1217F	NRK_ENST00000243300.9_Missense_Mutation_p.S1216F			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1216	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						TGCTGTGGTTCTTTGTGGGGT	0.343000										HNSCC(51;0.14)			5	27					0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16103737	16103737	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16103737C>T	ENST00000375766.3	+	8	1603	c.963C>T	c.(961-963)atC>atT	p.I321I	FBLIM1_ENST00000509138.1_3'UTR|FBLIM1_ENST00000375771.1_Silent_p.I321I|FBLIM1_ENST00000400773.1_Silent_p.I224I|FBLIM1_ENST00000332305.5_Silent_p.I224I	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	321	LIM zinc-binding 3.|PLEKHC1-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.I321I(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCTTCAAAATCGAATGCATGG	0.488000													35	116					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55340886	55340886	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55340886C>T	ENST00000391728.4	+	7	1104	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	KIR3DL1_ENST00000358178.4_Silent_p.F262F|KIR3DL1_ENST00000541392.1_Silent_p.F340F|KIR3DL1_ENST00000538269.1_Silent_p.F357F|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Silent_p.F340F	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		tcctcctcttctttctccttc	0.527000													16	72					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46312235	46312235	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:46312235C>T	ENST00000510861.1	-	6	687	c.514G>A	c.(514-516)Gat>Aat	p.D172N	GABRA2_ENST00000540012.1_Missense_Mutation_p.D117N|GABRA2_ENST00000514090.1_Missense_Mutation_p.D172N|GABRA2_ENST00000356504.1_Missense_Mutation_p.D172N|GABRA2_ENST00000381620.4_Missense_Mutation_p.D172N|GABRA2_ENST00000515082.1_Missense_Mutation_p.D172N|GABRA2_ENST00000507069.1_Missense_Mutation_p.D172N			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	172					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATTGGGAAATCCTCCAAGTGC	0.378000													4	54					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805802	54805802	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:54805802G>A	ENST00000306858.7	+	5	2149	c.2033G>A	c.(2032-2034)gGa>gAa	p.G678E		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	678										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTAGATCCTGGAAATAGTAAG	0.358000													5	46					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67147854	67147854	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:67147854C>T	ENST00000371037.4	+	15	1194	c.1117C>T	c.(1117-1119)Ccg>Tcg	p.P373S	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P377S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	373	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						TGTACTATCGCCGCTCAATTT	0.542000													16	240					0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587467	36587467	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:36587467C>G	ENST00000332987.1	-	7	1122	c.700G>C	c.(700-702)Gaa>Caa	p.E234Q	APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.E237Q|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000429038.2_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	238					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						TTTGTGGCTTCGTCAAAATCA	0.453000													7	39					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273956	10273956	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:10273956C>T	ENST00000396573.2	-	3	622	c.313G>A	c.(313-315)Gac>Aac	p.D105N	GRIN2A_ENST00000330684.3_Missense_Mutation_p.D105N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D105N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D105N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D105N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	105					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)	GCCTCCTGGTCCGTGTCGTCC	0.597000													16	101					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238050806	238050806	+	Silent	SNP	C	C	T	rs113242065		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:238050806C>T	ENST00000366570.4	-	5	767	c.609G>A	c.(607-609)gtG>gtA	p.V203V	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	203	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTGGCGAGGTCACGTTCCGAG	0.522000													9	58					0	0	1	0	0
QTRTD1	79691	broad.mit.edu	37	3	113784098	113784098	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:113784098C>T	ENST00000485050.1	+	2	145	c.30C>T	c.(28-30)tcC>tcT	p.S10S	QTRTD1_ENST00000493014.1_Intron|QTRTD1_ENST00000479882.1_5'UTR|QTRTD1_ENST00000281273.4_5'UTR|QTRTD1_ENST00000466050.1_3'UTR	NM_001256835.1	NP_001243764.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	0					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TAGAAGAATCCCTTAGGATGA	0.413000													17	67					0	0	1	0	0
PNPLA2	57104	broad.mit.edu	37	11	821704	821704	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:821704C>T	ENST00000336615.4	+	3	466	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	88	Patatin.				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCCCTCCTTCAACCTGGTAA	0.607000													12	25					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134023092	134023092	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:134023092T>C	ENST00000534548.2	-	34	4395	c.4331A>G	c.(4330-4332)aAa>aGa	p.K1444R	NCAPD3_ENST00000526787.2_Intron	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1444					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCCTTCAATTTTCTCTAAAAG	0.438000													26	126					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244683	56244683	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56244683C>T	ENST00000332836.2	-	2	541	c.514G>A	c.(514-516)Gga>Aga	p.G172R		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	172	NACHT.					cytoplasm	ATP binding	p.G172R(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CATAAGTTTCCCTCTGCCCAG	0.463000													7	53					0	0	1	0	0
TCP10L2	401285	broad.mit.edu	37	6	167595347	167595347	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:167595347G>A	ENST00000366832.2	+	8	1136	c.1005G>A	c.(1003-1005)ccG>ccA	p.P335P		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	335										endometrium(1)|kidney(2)|lung(3)	6						CCGGTTTCCCGAGTGAATTTC	0.537000													8	37					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579026	55579026	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55579026C>T	ENST00000333973.2	+	1	173	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F28F(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCTGCCTCTTCCTGCTGTTCC	0.488000													12	168					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110467064	110467064	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110467064G>A	ENST00000378402.5	+	45	6961	c.6857G>A	c.(6856-6858)gGa>gAa	p.G2286E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2286	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGCGGGAGGGAATCCTGGAT	0.507000										HNSCC(38;0.096)			4	20					0	0	1	0	0
NAGPA	51172	broad.mit.edu	37	16	5075526	5075526	+	Missense_Mutation	SNP	C	C	T	rs141568446	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:5075526C>T	ENST00000312251.3	-	10	1520	c.1501G>A	c.(1501-1503)Gca>Aca	p.A501T	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.A467T	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	501					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	p.A501T(1)		endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	TCCTTCTCTGCGGCCAGAGGC	0.632000													12	180					0	0	1	0	0
XRCC6	2547	broad.mit.edu	37	22	42043012	42043012	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:42043012G>A	ENST00000359308.4	+	6	1541	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	XRCC6_ENST00000360079.3_Missense_Mutation_p.V296M|XRCC6_ENST00000402580.3_Missense_Mutation_p.V255M|XRCC6_ENST00000405878.1_Missense_Mutation_p.V296M|XRCC6_ENST00000405506.1_Missense_Mutation_p.V246M|XRCC6_ENST00000428575.2_Missense_Mutation_p.V163M			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	296	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AAATGAACCAGTGAAAACCAA	0.453000								Non-homologous end-joining					15	179					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804643	27804643	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:27804643A>G	ENST00000408964.2	+	1	5255	c.5204A>G	c.(5203-5205)cAc>cGc	p.H1735R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1735	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAAGCCATCACAGTCCCTCT	0.552000													6	260					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345040	5345040	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5345040G>A	ENST00000328813.2	-	1	542	c.488C>T	c.(487-489)tCa>tTa	p.S163L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATGAAAATGAAAAAAGACG	0.398000													17	64					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104149475	104149475	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:104149475C>T	ENST00000388887.2	+	63	7170	c.6966C>T	c.(6964-6966)ccC>ccT	p.P2322P	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2322	FAS1 7.				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						TGTCCTTCCCCTCACTCACAA	0.557000													5	93					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93088615	93088615	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:93088615G>A	ENST00000298050.3	+	3	208	c.108G>A	c.(106-108)tgG>tgA	p.W36*	CCDC67_ENST00000527307.1_Nonsense_Mutation_p.W36*|CCDC67_ENST00000530053.1_3'UTR	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	36										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)				AAATGGATTGGGAAAGAAAGA	0.408000													7	43					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213507	21213507	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:21213507G>A	ENST00000574002.1	-	12	1687	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	ZP2_ENST00000219593.4_Missense_Mutation_p.S402F|ZP2_ENST00000574091.1_Missense_Mutation_p.S402F|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	402	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGGCTGGCAGGATGAGTTTCC	0.542000													5	25					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183162	60183162	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:60183162C>T	ENST00000300187.6	+	5	998	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S	MS4A14_ENST00000531787.1_Missense_Mutation_p.P129S|MS4A14_ENST00000395005.2_Missense_Mutation_p.P224S|MS4A14_ENST00000531783.1_Missense_Mutation_p.P274S|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	241						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTTCCATCTCCCAAATTTTC	0.388000													16	78					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149885088	149885088	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:149885088G>A	ENST00000369146.3	-	2	795	c.305C>T	c.(304-306)cCc>cTc	p.P102L	SV2A_ENST00000369145.1_Missense_Mutation_p.P102L	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	102					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CTCTGCCCGGGGAATGCCCTG	0.627000													29	149					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032466	21032466	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:21032466C>T	ENST00000381545.3	+	11	1451	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	LST3_ENST00000540229.1_Missense_Mutation_p.S411L|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S411L|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S411L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	411					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GCCAAATTTTCATTTCTTACT	0.358000													5	25					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30926546	30926546	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:30926546G>A	ENST00000597505.1	-	29	4269	c.4270C>T	c.(4270-4272)Cgt>Tgt	p.R1424C	DCDC1_ENST00000406071.2_Missense_Mutation_p.R159C|DCDC1_ENST00000339794.5_Missense_Mutation_p.R503C			P59894	DCDC1_HUMAN	doublecortin domain containing 1	186					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)					TTCCCATTACGATACCCATCC	0.458000													5	66					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110921	81110921	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:81110921G>A	ENST00000228644.3	+	1	231	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	27					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCCCGAGGGTGAATTTGGGGA	0.622000													5	39					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71300833	71300833	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:71300833C>T	ENST00000260382.5	+	12	1545	c.1285C>T	c.(1285-1287)Ctg>Ttg	p.L429L	LRRC49_ENST00000560158.2_Silent_p.L117L|LRRC49_ENST00000560691.1_Silent_p.L135L|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Silent_p.L419L|LRRC49_ENST00000560369.1_Silent_p.L434L|LRRC49_ENST00000443425.2_Silent_p.L385L	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	429						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ACTGGAATCTCTGGATAGGAA	0.413000													4	27					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166324	140166324	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140166324C>T	ENST00000504120.2	+	1	449	c.449C>T	c.(448-450)tCg>tTg	p.S150L	PCDHA1_ENST00000394633.3_Missense_Mutation_p.S150L|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S150L	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGAATTCGCGTTTTCCG	0.443000													11	81					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440855	124440855	+	Silent	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:124440855A>T	ENST00000284287.3	+	1	963	c.891A>T	c.(889-891)gtA>gtT	p.V297V		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		ACACCACGGTAATCCCCATGT	0.458000													6	37					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153421922	153421922	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:153421922C>T	ENST00000369951.4	+	5	958	c.898C>T	c.(898-900)Cac>Tac	p.H300Y		NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	300					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTACGCCTTCCACCCTTTGAT	0.542000													47	182					0	0	1	0	0
TNFSF18	8995	broad.mit.edu	37	1	173010631	173010631	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:173010631C>T	ENST00000404377.3	-	3	476	c.476G>A	c.(475-477)gGa>gAa	p.G159E	RP1-15D23.2_ENST00000432694.1_RNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.G137E	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	159					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						ATAAGTCCCTCCTACATTTTG	0.348000													15	47					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616313	92616313	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:92616313C>T	ENST00000298047.6	+	23	12708	c.12691C>T	c.(12691-12693)Ccc>Tcc	p.P4231S	FAT3_ENST00000533797.1_Missense_Mutation_p.P566S|FAT3_ENST00000525166.1_Missense_Mutation_p.P4081S|FAT3_ENST00000409404.2_Missense_Mutation_p.P4231S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4231					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)				CCCGCAGGTCCCCGTGCGCCC	0.657000										TCGA Ovarian(4;0.039)			25	125					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67857917	67857917	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:67857917G>A	ENST00000255674.6	-	9	1332	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	RTTN_ENST00000437017.1_Missense_Mutation_p.S349F|RTTN_ENST00000454359.1_Missense_Mutation_p.S349F	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	349							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGAATGAACGGATATCCTGGA	0.418000													10	58					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128359391	128359391	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:128359391C>T	ENST00000262462.4	+	6	2253	c.1243C>T	c.(1243-1245)Cat>Tat	p.H415Y	SLC27A6_ENST00000395266.1_Missense_Mutation_p.H415Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.H415Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	415					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTGGTGTATTCATGTGAAAAA	0.368000													5	40					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	556008	556008	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:556008G>A	ENST00000230449.4	-	19	2073	c.1938C>T	c.(1936-1938)ttC>ttT	p.F646F	EXOC2_ENST00000448181.3_Silent_p.F241F	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	646					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TAGGTTGTTGGAAGACCTGTA	0.343000													8	64					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140189010	140189010	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140189010G>A	ENST00000530339.1	+	1	2238	c.2238G>A	c.(2236-2238)ggG>ggA	p.G746G	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.G746G|PCDHA4_ENST00000512229.2_Silent_p.G746G	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)			GTGCGGTGGGGAGCTGGTCAT	0.672000													6	62					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115413821	115413821	+	Missense_Mutation	SNP	C	C	T	rs141144397		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:115413821C>T	ENST00000369358.4	-	5	668	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	NRAP_ENST00000360478.3_Missense_Mutation_p.E142K|NRAP_ENST00000359988.3_Missense_Mutation_p.E142K|NRAP_ENST00000369360.3_Missense_Mutation_p.E142K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	142						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTTACAATTTCGGGGTCTGGC	0.458000													19	193					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039470	55039470	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55039470T>A	ENST00000370862.3	+	1	421	c.85T>A	c.(85-87)Tta>Ata	p.L29I		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	29					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGAGCCCTTTTTAAACCCCAC	0.547000													19	157					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694312	153694312	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:153694312C>T	ENST00000369682.3	+	14	2742	c.2567C>T	c.(2566-2568)aCc>aTc	p.T856I		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	856	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAAGGAGGCACCCGGGTCACC	0.652000													8	33					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168114082	168114082	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:168114082C>T	ENST00000519560.1	-	30	3635	c.3216G>A	c.(3214-3216)gaG>gaA	p.E1072E	SLIT3_ENST00000404867.3_Silent_p.E1072E|SLIT3_ENST00000332966.8_Silent_p.E1079E	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1072	EGF-like 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATTGTCTGTCTCACAGAGCT	0.597000													4	43					0	0	1	0	0
E2F4	1874	broad.mit.edu	37	16	67227419	67227419	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:67227419G>A	ENST00000379378.3	+	4	510		c.e4+1		E2F4_ENST00000564718.1_Splice_Site	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TGCTTTGCTGGTGAGCAGAGC	0.547000													8	64					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752598	247752598	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:247752598G>A	ENST00000320065.1	+	1	937	c.937G>A	c.(937-939)Gga>Aga	p.G313R	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G313R(1)		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)			AAAGGCTCTGGGAGtaaatat	0.318000													11	59					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881963	228881963	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:228881963C>T	ENST00000392056.3	-	7	3653	c.3607G>A	c.(3607-3609)Gaa>Aaa	p.E1203K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1203K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1203						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)		CTGTCTCTTTCGATGTCCCTC	0.562000													8	77					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83674049	83674049	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:83674049C>T	ENST00000398309.2	-	9	1374	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	DLG2_ENST00000330014.6_Missense_Mutation_p.E241K|DLG2_ENST00000543673.1_Missense_Mutation_p.E407K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.E56K|DLG2_ENST00000376104.2_Missense_Mutation_p.E407K|DLG2_ENST00000532653.1_Missense_Mutation_p.E302K|DLG2_ENST00000524982.1_Missense_Mutation_p.E302K|DLG2_ENST00000280241.8_Missense_Mutation_p.E341K|DLG2_ENST00000531015.1_Missense_Mutation_p.E269K|DLG2_ENST00000418306.2_Missense_Mutation_p.E251K|DLG2_ENST00000398301.2_Missense_Mutation_p.E341K	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	302						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGATGGTTTTCCATTGGTGGA	0.413000													17	89					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813361	106813361	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:106813361C>T	ENST00000407775.2	+	8	1301	c.1051C>T	c.(1051-1053)Cac>Tac	p.H351Y	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.H219Y|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.H219Y|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.H82Y	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	351					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATCAACTTTCACCAACACCT	0.493000													16	152					0	0	1	0	0
CTAGE9	643854	broad.mit.edu	37	6	132031896	132031896	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:132031896C>T	ENST00000314099.8	-	1	310	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	88						integral to membrane		p.E88Q(2)		endometrium(1)|lung(1)	2						TTACATTTTTCTTCAATTAGT	0.393000													11	57					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102604102	102604102	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:102604102G>A	ENST00000393772.2	-	8	1028	c.602C>T	c.(601-603)tCc>tTc	p.S201F	FBXL13_ENST00000379306.3_Missense_Mutation_p.S201F|FBXL13_ENST00000455112.2_Missense_Mutation_p.S201F|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379305.3_Missense_Mutation_p.S201F|FBXL13_ENST00000456695.1_Missense_Mutation_p.S201F|FBXL13_ENST00000379308.3_Missense_Mutation_p.S201F|FBXL13_ENST00000313221.4_Missense_Mutation_p.S201F|FBXL13_ENST00000436908.1_Missense_Mutation_p.S201F			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	201										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTTCACTGAGGAAAAATCAAT	0.318000													4	49					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18439861	18439861	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:18439861G>A	ENST00000282343.8	+	2	308	c.86G>A	c.(85-87)gGa>gAa	p.G29E	CACNB2_ENST00000324631.7_Missense_Mutation_p.G57E|CACNB2_ENST00000352115.6_Missense_Mutation_p.G57E|CACNB2_ENST00000467034.1_3'UTR|CACNB2_ENST00000377328.1_Missense_Mutation_p.G57E|CACNB2_ENST00000377331.2_Missense_Mutation_p.G29E	NM_001167945.1|NM_201571.3	NP_001161417.1|NP_963865.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	57					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGATCTGATGGAAGCACGTCA	0.294000													7	97					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142640664	142640664	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142640664C>T	ENST00000355265.2	-	15	2086	c.1612G>A	c.(1612-1614)Gac>Aac	p.D538N		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	538					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCATTGACGTCCCAAGGGGAC	0.562000													4	47					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74279226	74279226	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:74279226C>T	ENST00000295897.4	+	8	1022	c.933C>T	c.(931-933)tcC>tcT	p.S311S	ALB_ENST00000401494.3_Silent_p.S196S|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Silent_p.S311S|ALB_ENST00000503124.1_Silent_p.S161S|ALB_ENST00000415165.2_Silent_p.S119S	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	311	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGGAAAAATCCCACTGCATTG	0.408000													15	71					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303337	151303337	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151303337C>T	ENST00000370323.4	-	4	1072	c.756G>A	c.(754-756)atG>atA	p.M252I	MAGEA10_ENST00000244096.3_Missense_Mutation_p.M252I|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	252	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGCCCCATCATATTCAGTG	0.522000													20	60					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263529	1263529	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:1263529G>A	ENST00000447027.1	+	31	5486	c.5428G>A	c.(5428-5430)Gac>Aac	p.D1810N	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.D1807N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1807	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCAGGCGGGGACATGGAAAC	0.577000													5	75					0	0	1	0	0
TRAV8-3	28683	broad.mit.edu	37	14	22321018	22321018	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22321018C>T	ENST00000390435.1	+	0	176																											GTCCAGTCCCCCGGCCAAGGC	0.493000													3	18					0	0	1	0	0
CDK5	1020	broad.mit.edu	37	7	150754173	150754173	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150754173C>T	ENST00000485972.1	-	2	793	c.112G>A	c.(112-114)Gat>Aat	p.D38N	CDK5_ENST00000297518.4_Missense_Mutation_p.D38N	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	38	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		TCATCGTCATCCAGCCTCACC	0.622000													10	228					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19548854	19548854	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19548854C>T	ENST00000396212.2	+	5	2299	c.1863C>T	c.(1861-1863)taC>taT	p.Y621Y	CCP110_ENST00000381396.5_Silent_p.Y621Y|CCP110_ENST00000396208.2_Silent_p.Y621Y	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	621					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AAAAAAGATACCCTAAGGGAT	0.353000													4	67					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34087804	34087804	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34087804G>A	ENST00000373381.4	-	37	5966	c.5790C>T	c.(5788-5790)atC>atT	p.I1930I	CSMD2_ENST00000373380.1_Silent_p.I803I|CSMD2_ENST00000373388.2_Silent_p.I29I|CSMD2_ENST00000373377.1_Silent_p.I29I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1890	Sushi 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGATACGCTGATATCTGAGT	0.517000													34	173					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275418	71275418	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:71275418C>T	ENST00000399575.2	+	3	547	c.373C>T	c.(373-375)Cct>Tct	p.P125S	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	125	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACCCCCATTTCCTCCTATTCC	0.413000													14	70					0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916712	150916712	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:150916712G>A	ENST00000309180.5	-	3	692	c.462C>T	c.(460-462)atC>atT	p.I154I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	154						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGATGTCTTTGATGGGAATCA	0.363000													13	50					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117237424	117237424	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:117237424G>A	ENST00000332958.2	+	9	935	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	307					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCCCCTGCTCGAAAATCCTGT	0.343000													6	101					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686833	54686833	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:54686833G>A	ENST00000540264.2	-	2	956	c.447C>T	c.(445-447)tcC>tcT	p.S149S	NFE2_ENST00000435572.2_Silent_p.S149S|NFE2_ENST00000312156.4_Silent_p.S149S|NFE2_ENST00000553070.1_Silent_p.S149S|RP11-968A15.8_ENST00000553061.1_RNA			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	149	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TATAGTTGAGGGATAATCCTG	0.572000													19	118					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040766	88040766	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:88040766G>A	ENST00000319595.4	+	1	921	c.867G>A	c.(865-867)cgG>cgA	p.R289R		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	289					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CAAGAGAACGGAAAGCAGCCA	0.378000													3	28					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19735412	19735412	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:19735412C>T	ENST00000396085.1	+	1	532	c.171C>T	c.(169-171)ccC>ccT	p.P57P	NAV2_ENST00000349880.4_Silent_p.P57P|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000396087.3_Silent_p.P57P	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	57						nucleus	ATP binding|helicase activity			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						GCCAGATCCCCCTGAAATCGC	0.672000													6	35					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702603	27702603	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:27702603C>T	ENST00000438700.3	-	1	694	c.577G>A	c.(577-579)Gac>Aac	p.D193N		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	193					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGGTAGGAGTCGTTGGTGGTG	0.612000													9	165					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123101468	123101468	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:123101468C>T	ENST00000466202.1	-	11	2526	c.1950G>A	c.(1948-1950)caG>caA	p.Q650Q	IQUB_ENST00000324698.6_Silent_p.Q650Q			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	650										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TATAGTAGAGCTGTTGAAGTA	0.393000													7	69					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134660750	134660750	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:134660750C>T	ENST00000368586.5	-	42	6128	c.6028G>A	c.(6028-6030)Gac>Aac	p.D2010N	TTC40_ENST00000263170.5_Missense_Mutation_p.D171N	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	171										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCCGGCGGGTCCCTGCTGGAC	0.677000													17	86					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153418575	153418575	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:153418575G>A	ENST00000369951.4	+	3	632	c.572G>A	c.(571-573)tGg>tAg	p.W191*	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	191					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATCTTTGGTTGGAGCAGGTAA	0.572000													15	99					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82430892	82430892	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82430892C>T	ENST00000333891.8	-	22	15286	c.14949G>A	c.(14947-14949)caG>caA	p.Q4983Q		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4906	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.Q4983Q(2)		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						CTTGTCCATTCTGTCCCATCT	0.348000													9	43					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33133518	33133518	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:33133518G>A	ENST00000341947.2	-	63	4785	c.4558C>T	c.(4558-4560)Cgt>Tgt	p.R1520C	COL11A2_ENST00000395197.1_Missense_Mutation_p.R1460C|COL11A2_ENST00000361917.1_Missense_Mutation_p.R1413C|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Missense_Mutation_p.R1439C|COL11A2_ENST00000374708.4_Missense_Mutation_p.R1434C|COL11A2_ENST00000374714.1_Missense_Mutation_p.R1494C|COL11A2_ENST00000357486.1_Missense_Mutation_p.R1499C|COL11A2_ENST00000374713.1_Missense_Mutation_p.R1473C	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1520					cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.R1520C(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGCATCAGACGGCTTCCATCC	0.652000													22	101					0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474602	99474602	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99474602C>T	ENST00000316368.2	-	1	78	c.55G>A	c.(55-57)Gat>Aat	p.D19N		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGGGAGTCATCGAAGAGCCCC	0.493000													12	61					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105421053	105421053	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:105421053G>A	ENST00000264122.4	-	12	2165	c.1844C>T	c.(1843-1845)cCa>cTa	p.P615L	CBLB_ENST00000405772.1_Missense_Mutation_p.P615L|CBLB_ENST00000394027.3_Missense_Mutation_p.P637L|CBLB_ENST00000403724.1_Missense_Mutation_p.P615L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	615	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TCCAGGTTTTGGAGAGCCCTC	0.537000			Mis S		AML								8	116					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689046	43689046	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43689046G>A	ENST00000404580.1	-	2	406	c.318C>T	c.(316-318)tcC>tcT	p.S106S	PSG5_ENST00000342951.6_Silent_p.S106S|PSG5_ENST00000407356.1_Silent_p.S106S|PSG5_ENST00000407568.1_Silent_p.S106S|PSG5_ENST00000599812.1_Silent_p.S106S|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000366175.3_Silent_p.S106S			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	106	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGATCAGCAGGGATGCATTGG	0.433000													44	320					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668534	176668534	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:176668534G>A	ENST00000367662.3	+	8	4209	c.3045G>A	c.(3043-3045)ggG>ggA	p.G1015G		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1015					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACGTGGATGGGAAGGTGTCGG	0.522000													26	114					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9265989	9265989	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:9265989C>T	ENST00000318602.7	-	2	544	c.237G>A	c.(235-237)gcG>gcA	p.A79A		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	79					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)	CGTCATTCTCCGCCTCCAGGT	0.493000													9	67					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141765192	141765192	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141765192C>T	ENST00000475668.2	+	38	4596	c.4542C>T	c.(4540-4542)ccC>ccT	p.P1514P	MGAM_ENST00000549489.2_Silent_p.P1514P			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1514	Glucoamylase.				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)	CCACATTTCCCTCTTCTGGCC	0.617000													3	26					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81647405	81647405	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:81647405C>T	ENST00000548058.1	+	15	2861	c.1951C>T	c.(1951-1953)Ccc>Tcc	p.P651S	ACSS3_ENST00000548324.1_Missense_Mutation_p.P333S|ACSS3_ENST00000261206.3_Missense_Mutation_p.P650S			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	651						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGGCAAGATCCCCCGATCAGC	0.393000													4	72					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470004	10470004	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:10470004G>A	ENST00000382483.3	-	4	1827	c.1604C>T	c.(1603-1605)tCg>tTg	p.S535L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	535					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCTGGCTGACGAGTCCGAAGA	0.697000													6	94					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56345060	56345060	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56345060G>A	ENST00000526812.2	-	1	203	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	46					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						TGATCAGCAGGATCATGCACA	0.473000													6	79					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499585	75499585	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:75499585C>T	ENST00000360639.2	+	2	1516	c.1196C>T	c.(1195-1197)cCt>cTt	p.P399L	C15orf39_ENST00000567617.1_Missense_Mutation_p.P399L|C15orf39_ENST00000394987.4_Missense_Mutation_p.P399L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	399										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GGGACACCACCTTCCCAGAAC	0.617000													12	123					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39178269	39178269	+	Silent	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:39178269A>T	ENST00000297668.6	-	5	700	c.627T>A	c.(625-627)tcT>tcA	p.S209S	CNTNAP3_ENST00000377659.1_Silent_p.S209S|CNTNAP3_ENST00000323947.7_Silent_p.S209S|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377656.2_Silent_p.S209S|CNTNAP3_ENST00000358144.2_Silent_p.S121S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	209	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TAAATTTCAAAGAAATAACGT	0.343000													17	68					0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39623270	39623270	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39623270A>G	ENST00000225899.3	-	1	411	c.308T>C	c.(307-309)cTt>cCt	p.L103P		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	103	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GCGGTCGTTAAGGAACTGCAT	0.627000													13	121					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56345044	56345044	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56345044T>C	ENST00000526812.2	-	1	219	c.154A>G	c.(154-156)Aat>Gat	p.N52D		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	52					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						AGTTGGGAATTGGTCCTGATC	0.463000													18	69					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119285936	119285936	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:119285936C>T	ENST00000338891.7	-	16	3477	c.3033_splice	c.e16-1	p.E1012_splice	FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000352896.5_Splice_Site_p.E843_splice|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1012										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTATTATCCTCCTATGCAAAA	0.264000													3	22					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754868	94754868	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94754868G>A	ENST00000554723.1	-	3	1285	c.867C>T	c.(865-867)gtC>gtT	p.V289V	SERPINA10_ENST00000554173.1_Silent_p.V249V|SERPINA10_ENST00000261994.4_Silent_p.V249V|SERPINA10_ENST00000393096.1_Silent_p.V249V			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	249					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)		CTTCGGTGAAGACAGGGTCAA	0.438000													8	61					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166895950	166895950	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:166895950G>A	ENST00000423058.2	-	14	2589	c.2572C>T	c.(2572-2574)Ctc>Ttc	p.L858F	SCN1A_ENST00000375405.3_Missense_Mutation_p.L847F|SCN1A_ENST00000303395.4_Missense_Mutation_p.L858F|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L830F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	858						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATGAACGGAGAACAGATAAT	0.353000													3	17					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18692085	18692085	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:18692085C>T	ENST00000251296.1	+	6	1292	c.909C>T	c.(907-909)gcC>gcT	p.A303A		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	303						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		AAGTACGTGCCCTGCTCACCT	0.642000													23	92					0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205497216	205497216	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:205497216C>T	ENST00000360066.2	+	10	1195	c.894C>T	c.(892-894)tcC>tcT	p.S298S	CDK18_ENST00000429964.2_Silent_p.S298S|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.S328S	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	296	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						AGACTTACTCCAATGAGGTGG	0.587000													8	44					0	0	1	0	0
PTRH2	51651	broad.mit.edu	37	17	57775088	57775088	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:57775088G>A	ENST00000470557.2	-	1	3698	c.252C>T	c.(250-252)gcC>gcT	p.A84A	PTRH2_ENST00000537860.1_Silent_p.A84A|PTRH2_ENST00000409433.2_Silent_p.A85A|PTRH2_ENST00000393038.2_Silent_p.A84A			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	84					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAGAGCACTGGGCAGCCACTT	0.468000													6	123					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75704243	75704243	+	Missense_Mutation	SNP	C	C	T	rs149353208		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:75704243C>T	ENST00000370855.5	-	10	724	c.611G>A	c.(610-612)gGa>gAa	p.G204E	SLC44A5_ENST00000535611.1_Missense_Mutation_p.G74E|SLC44A5_ENST00000370859.3_Missense_Mutation_p.G204E	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	204						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.G204E(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCCTCCATTTCCATCTTGAAA	0.343000													6	71					0	0	1	0	0
ALG8	79053	broad.mit.edu	37	11	77812121	77812121	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:77812121G>A	ENST00000299626.5	-	13	1541	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	ALG8_ENST00000376156.3_3'UTR	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	490					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GTAACAAAGGGATGAAGGGGT	0.443000													13	85					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81902885	81902885	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:81902885C>T	ENST00000359376.3	+	6	760	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	182					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTGCCAAGTTCCTTAAAGATA	0.473000													7	154					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048115	180048115	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:180048115C>T	ENST00000261937.6	-	14	2236	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K	FLT4_ENST00000502649.1_Missense_Mutation_p.E720K|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.E720K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	720	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGACTTTTCCTCCAGCAGC	0.672000													5	39					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133844294	133844294	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:133844294A>T	ENST00000367895.5	+	18	2181	c.1717A>T	c.(1717-1719)Att>Ttt	p.I573F	RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.I573F|EYA4_ENST00000430974.2_Missense_Mutation_p.I525F|EYA4_ENST00000531901.1_Missense_Mutation_p.I579F|EYA4_ENST00000525849.1_Missense_Mutation_p.I550F|EYA4_ENST00000355167.3_Missense_Mutation_p.I573F|EYA4_ENST00000355286.6_Missense_Mutation_p.I550F|EYA4_ENST00000452339.2_Missense_Mutation_p.I519F	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	573					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CATTGAGAATATTTACAGTGC	0.388000													13	70					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103290777	103290777	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:103290777C>T	ENST00000424685.2	-	16	2105	c.1946G>A	c.(1945-1947)aGg>aAg	p.R649K	RELN_ENST00000428762.1_Missense_Mutation_p.R649K|RELN_ENST00000343529.5_Missense_Mutation_p.R649K			P78509	RELN_HUMAN	reelin	649					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAGCGAATCCTGGTGTTCCG	0.428000													22	61					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30976205	30976205	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:30976205C>T	ENST00000262519.8	+	7	1828	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CGCCATACTTCCTACCCACCA	0.557000													46	251					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228861	57228861	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:57228861C>T	ENST00000396721.2	-	2	176	c.46G>A	c.(46-48)Gga>Aga	p.G16R	SDR16C5_ENST00000522671.1_Missense_Mutation_p.G16R|SDR16C5_ENST00000303749.3_Missense_Mutation_p.G16R			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	16					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						AGTGATTTTCCTAAGAAAATG	0.418000													6	56					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28720117	28720117	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:28720117C>T	ENST00000257197.3	-	10	1669	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E470K	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	470	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GGGTGGCATTCAGGGCCCTCA	0.473000													9	84					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548734	158548734	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158548734C>T	ENST00000368150.1	-	1	955	c.956G>A	c.(955-957)gGa>gAa	p.G319E		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AACTGTGTTTCCCATCATTCT	0.428000													13	129					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138529097	138529097	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:138529097G>A	ENST00000440172.1	-	18	5465	c.5417C>T	c.(5416-5418)tCg>tTg	p.S1806L	KIAA1549_ENST00000242365.4_Missense_Mutation_p.S1756L|KIAA1549_ENST00000422774.1_Missense_Mutation_p.S1806L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1806						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCGGGCCACCGACGGCATCTC	0.572000			O	BRAF	pilocytic astrocytoma								8	37					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587644	42587644	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:42587644C>T	ENST00000289957.2	+	5	1322	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	398					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGCTGATTCCATTAGATACA	0.383000													6	26					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228487623	228487623	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:228487623G>A	ENST00000570156.2	+	51	13589	c.13515G>A	c.(13513-13515)aaG>aaA	p.K4505K	OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366707.4_Silent_p.K1195K|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3548	Ig-like 46.				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)				GAAACCAGAAGGCCACAGAAG	0.522000													7	70					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202588148	202588148	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:202588148C>T	ENST00000264276.6	-	22	3901	c.3529G>A	c.(3529-3531)Gga>Aga	p.G1177R	ALS2_ENST00000457679.2_Missense_Mutation_p.G489R	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1177					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGCCACATTCCCATATACTTT	0.403000													8	130					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118344279	118344279	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:118344279C>T	ENST00000534358.1	+	3	2428	c.2405C>T	c.(2404-2406)tCc>tTc	p.S802F	KMT2A_ENST00000389506.5_Missense_Mutation_p.S802F|KMT2A_ENST00000354520.4_Missense_Mutation_p.S802F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CCTTCTCATTCCCTGACTCAG	0.483000													20	79					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30974051	30974051	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:30974051G>A	ENST00000597505.1	-	19	2655	c.2656C>T	c.(2656-2658)Cct>Tct	p.P886S	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000437348.1_Intron|DCDC1_ENST00000339794.5_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)					TTCCATAGAGGATTTTCAACT	0.403000													4	20					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119321	38119321	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:38119321G>A	ENST00000406386.3	+	7	1013	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	253					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGTGGACCTCGAAGCACCACG	0.612000													8	36					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232178	21232178	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21232178T>C	ENST00000233242.1	-	26	7689	c.7562A>G	c.(7561-7563)gAc>gGc	p.D2521G		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2521					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATACATTCGGTCTCGTGTATC	0.428000													14	45					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5662697	5662697	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:5662697G>A	ENST00000425013.2	-	17	2619	c.2395C>T	c.(2395-2397)Ccc>Tcc	p.P799S	RNF216_ENST00000389902.3_Missense_Mutation_p.P856S|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	799	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AAGGCATAGGGTGGCATCTGT	0.657000													11	97					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96768431	96768431	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:96768431G>A	ENST00000359933.4	-	34	5945	c.5052C>T	c.(5050-5052)gcC>gcT	p.A1684A	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1684										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ACACGTGTAAGGCTTTCACTG	0.413000													12	44					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152719765	152719765	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:152719765G>A	ENST00000367255.5	-	49	7940	c.7339C>T	c.(7339-7341)Cat>Tat	p.H2447Y	SYNE1_ENST00000265368.4_Missense_Mutation_p.H2447Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.H2454Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.H2454Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.H2485Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2447					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGATCATGGAGCTTTGCT	0.443000										HNSCC(10;0.0054)			10	45					0	0	1	0	0
PTDSS2	81490	broad.mit.edu	37	11	488599	488599	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:488599C>T	ENST00000308020.5	+	8	982	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	269						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GAGTGGCTGTCCCTGAAGACG	0.632000													14	51					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2024076	2024076	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:2024076C>T	ENST00000382722.5	-	2	615	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.G85S|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.G21S|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.G85S|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.G21S|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.G85S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	85						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGGTCCCCGCCGAAGGTGTCA	0.542000													9	48					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90576692	90576692	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:90576692C>T	ENST00000551025.1	+	0	5120							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGTATTAACACTGTAAAGCAT	0.328000													4	15					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65123660	65123660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:65123660G>A	ENST00000309880.5	+	2	588	c.381G>A	c.(379-381)tgG>tgA	p.W127*		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	127	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TGGTCCGCTGGAAACGCCGAA	0.657000													5	63					0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079577	31079577	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31079577C>T	ENST00000259870.3	-	2	562	c.559G>A	c.(559-561)Ggg>Agg	p.G187R		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	187										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ATTTTTCCCCCGGCTCCCAGT	0.607000													9	54					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848461	92848461	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:92848461C>T	ENST00000394468.2	-	2	460	c.383G>A	c.(382-384)gGa>gAa	p.G128E	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.G116E|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.G116E|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.G151E	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	128						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AGTTCCATTTCCCTGAATGTT	0.478000													6	56					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259249	43259249	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43259249C>T	ENST00000404209.4	-	4	975	c.879G>A	c.(877-879)agG>agA	p.R293R	PSG8_ENST00000401467.2_Silent_p.R200R|PSG8_ENST00000306511.4_Silent_p.R293R|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Silent_p.R171R	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	293	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GAATGAGGATCCTGTTTTCAA	0.488000													23	163					0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147131119	147131119	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:147131119G>A	ENST00000369238.5	-	4	962	c.515C>T	c.(514-516)tCc>tTc	p.S172F	ACP6_ENST00000392988.2_Missense_Mutation_p.S172F	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	172					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					ACAACGGGTGGACTCCAGATT	0.408000													14	113					0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108910702	108910702	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:108910702G>A	ENST00000326853.5	+	3	622	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	SULT1C2_ENST00000437390.2_Missense_Mutation_p.E57K|SULT1C2_ENST00000492554.1_3'UTR|SULT1C2_ENST00000409880.1_Missense_Mutation_p.E57K|SULT1C2_ENST00000251481.6_Missense_Mutation_p.E57K	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	57					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GTGGATTCAGGAAATTGTGGA	0.502000													30	132					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180057015	180057015	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:180057015G>A	ENST00000261937.6	-	5	682	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	FLT4_ENST00000502649.1_Silent_p.L202L|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.L202L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	202	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCAGGTACAGGGCATCGTGC	0.637000													16	48					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23318800	23318800	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:23318800G>A	ENST00000597761.2	+	3	380	c.181G>A	c.(181-183)Gag>Aag	p.E61K	ZNF730_ENST00000593635.1_Missense_Mutation_p.E29K	NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GCAAGAAAAAGAGCCTTGGAA	0.368000													8	82					0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60325955	60325955	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:60325955T>A	ENST00000371208.3	+	15	1744	c.1487T>A	c.(1486-1488)cTa>cAa	p.L496Q	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.L454Q	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	496	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					CAGGAGCAGCTAGAACAGAAA	0.403000													44	147					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41819100	41819100	+	Missense_Mutation	SNP	C	C	T	rs147818852	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:41819100C>T	ENST00000304330.4	-	14	2029	c.1913G>A	c.(1912-1914)cGg>cAg	p.R638Q	RPAP1_ENST00000561603.1_Missense_Mutation_p.R638Q	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	638						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTCACCAGCCGGGCAGCAAT	0.582000													23	200					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591720	46591720	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:46591720C>T	ENST00000398637.5	-	15	1940	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N	SLC38A1_ENST00000552197.1_Missense_Mutation_p.D416N|SLC38A1_ENST00000549049.1_Missense_Mutation_p.D416N|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D416N|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D416N	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	416					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCAAAAATATCCTTCATGGAG	0.383000													6	55					0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7360037	7360037	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:7360037C>T	ENST00000306071.2	+	11	1568	c.1501C>T	c.(1501-1503)Cct>Tct	p.P501S	CHRNB1_ENST00000575379.1_Missense_Mutation_p.P37S|CHRNB1_ENST00000536404.2_Missense_Mutation_p.P429S|CHRNB1_ENST00000576360.1_Missense_Mutation_p.P380S	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	501					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				AGACCCCTTTCCTTGAAGACT	0.552000													9	30					0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822451	19822451	+	Nonsense_Mutation	SNP	G	G	A	rs150668126		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:19822451G>A	ENST00000344099.3	-	4	1777	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R547*(2)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATGCAATCGAATTTGACTG	0.388000													8	69					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75651506	75651506	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:75651506G>A	ENST00000565683.1	-	18	2097	c.2086C>T	c.(2086-2088)Cct>Tct	p.P696S	MAN2C1_ENST00000267978.5_Intron|MAN2C1_ENST00000569482.1_Intron|MAN2C1_ENST00000563622.1_Intron	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	673					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTGTGGGAGGAGGCCTTGAG	0.612000													5	35					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650017	146650017	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:146650017G>A	ENST00000607149.1	+	0	350																											GTTTAGAGATGGTGAAGAAGC	0.473000													7	61					0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85660996	85660996	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:85660996C>T	ENST00000310298.4	+	18	1912	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	PDE8A_ENST00000339708.5_Missense_Mutation_p.P508S|PDE8A_ENST00000394553.1_Missense_Mutation_p.P554S|PDE8A_ENST00000557957.1_Missense_Mutation_p.P482S			O60658	PDE8A_HUMAN	phosphodiesterase 8A	554	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TTCCTCCAATCCCTACCACAA	0.423000													22	189					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132439914	132439914	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:132439914G>A	ENST00000370828.3	-	6	1565	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L	GPC4_ENST00000535467.1_Silent_p.L277L	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	347					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTCCAGCTGGGAGGGGCTTGG	0.587000													35	150					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8404567	8404567	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:8404567G>A	ENST00000381196.4	-	33	4723	c.4180C>T	c.(4180-4182)Cat>Tat	p.H1394Y	PTPRD_ENST00000540109.1_Missense_Mutation_p.H1394Y|PTPRD_ENST00000360074.4_Missense_Mutation_p.H1381Y|PTPRD_ENST00000358503.5_Missense_Mutation_p.H1372Y|PTPRD_ENST00000355233.5_Missense_Mutation_p.H988Y|PTPRD_ENST00000397617.3_Missense_Mutation_p.H987Y|PTPRD_ENST00000537002.1_Missense_Mutation_p.H984Y|PTPRD_ENST00000486161.1_Missense_Mutation_p.H987Y|PTPRD_ENST00000356435.5_Missense_Mutation_p.H1394Y|PTPRD_ENST00000397606.3_Missense_Mutation_p.H987Y|PTPRD_ENST00000397611.3_Missense_Mutation_p.H984Y	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1394	Tyrosine-protein phosphatase 1.				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)		ACCCGGGAATGATCATATGCG	0.378000										TSP Lung(15;0.13)			4	25					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9853781	9853781	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:9853781G>A	ENST00000256190.8	-	27	3779	c.3642C>T	c.(3640-3642)tcC>tcT	p.S1214S		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1214	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CGGCCTGAGGGGAGTTCTGAG	0.448000													6	33					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997880	115997880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:115997880G>A	ENST00000264363.2	-	2	991	c.313C>T	c.(313-315)Cag>Tag	p.Q105*		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	105	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATGTGGTACTGAAATCGGCTG	0.408000													16	48					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85343111	85343111	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:85343111C>T	ENST00000299927.3	+	7	3198	c.3176C>T	c.(3175-3177)tCc>tTc	p.S1059F	ZNF592_ENST00000560079.2_Missense_Mutation_p.S1059F			Q92610	ZN592_HUMAN	zinc finger protein 592	1059					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTCGGCCCTCCCTTCTGGAG	0.587000													23	86					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019901	20019901	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20019901G>A	ENST00000551509.1	-	1	371	c.320C>T	c.(319-321)cCc>cTc	p.P107L		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	107										endometrium(4)|kidney(1)|lung(4)	9						CCTGCAGCAGGGGAAGCAGTG	0.612000													9	228					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8564173	8564173	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:8564173G>A	ENST00000423345.4	-	2	1039	c.519C>T	c.(517-519)ctC>ctT	p.L173L	PRAM1_ENST00000255612.3_Silent_p.L173L			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	221	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CGGGGTGACTGAGTTCGTCGG	0.701000													5	28					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20330963	20330963	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20330963G>A	ENST00000302555.5	-	6	1135	c.986C>T	c.(985-987)gCt>gTt	p.A329V	GP2_ENST00000381360.5_Missense_Mutation_p.A185V|GP2_ENST00000381362.4_Missense_Mutation_p.A332V|GP2_ENST00000341642.5_Missense_Mutation_p.A182V|GP2_ENST00000573897.1_5'UTR			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	332	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTGCAAGGCAGCTTGGAGGCT	0.473000													15	117					0	0	1	0	0
GPR1	2825	broad.mit.edu	37	2	207041960	207041960	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:207041960C>T	ENST00000407325.2	-	3	374	c.12G>A	c.(10-12)ttG>ttA	p.L4L	GPR1_ENST00000437420.1_Silent_p.L4L	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	4						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		ATGTTTCCTCCAAATCTTCCA	0.323000													6	47					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3738603	3738603	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:3738603C>T	ENST00000541714.2	+	12	1797	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	TJP3_ENST00000589378.1_Silent_p.F454F|TJP3_ENST00000262968.9_Silent_p.F478F|TJP3_ENST00000382008.3_Silent_p.F459F|TJP3_ENST00000587686.1_Silent_p.F464F|TJP3_ENST00000539908.2_Silent_p.F409F	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	459	PDZ 3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGCAGTTCCTGCTGGGGC	0.592000													20	94					0	0	1	0	0
RBP2	5948	broad.mit.edu	37	3	139180971	139180971	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:139180971C>T	ENST00000232217.2	-	2	291	c.235G>A	c.(235-237)Gat>Aat	p.D79N	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	79					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	TGCCGGTTATCCAGGCTCTTT	0.423000													10	86					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112084550	112084550	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:112084550C>T	ENST00000357685.5	+	9	1433	c.1298C>T	c.(1297-1299)aCt>aTt	p.T433I	BCO2_ENST00000532593.1_Missense_Mutation_p.T328I|BCO2_ENST00000361053.4_Missense_Mutation_p.T360I|BCO2_ENST00000438022.1_Missense_Mutation_p.T399I|BCO2_ENST00000526088.1_Missense_Mutation_p.T399I|BCO2_ENST00000393032.2_Missense_Mutation_p.T399I|BCO2_ENST00000531169.1_Missense_Mutation_p.T399I			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	433					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TTGTCCTATACTTCAGCCAGT	0.413000													14	147					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9528533	9528533	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:9528533G>A	ENST00000281419.3	+	22	2581	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K	ASAP2_ENST00000315273.4_Silent_p.K747K|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	747					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACCTTGCCAAGGAGAAGCAGA	0.602000													5	58					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50905329	50905329	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:50905329G>A	ENST00000440232.2	+	5	590	c.537G>A	c.(535-537)ggG>ggA	p.G179G	POLD1_ENST00000595904.1_Silent_p.G179G|POLD1_ENST00000599857.1_Silent_p.G179G	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	179					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GTCGCGGGGGGAGGGAGCTGA	0.672000								DNA polymerases (catalytic subunits)					5	74					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698482	79698482	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:79698482C>T	ENST00000538312.1	+	5	778	c.444C>T	c.(442-444)tcC>tcT	p.S148S	FAM46D_ENST00000308293.5_Silent_p.S148S	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	148										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GTCTTATCTCCCTTTCAAATA	0.373000													21	64					0	0	1	0	0
SCML4	256380	broad.mit.edu	37	6	108076820	108076820	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:108076820C>T	ENST00000369021.3	-	1	23	c.24G>A	c.(22-24)tgG>tgA	p.W8*	SCML4_ENST00000369020.3_Intron|SCML4_ENST00000369022.2_Intron			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		CGCAACCTATCCAAGCTGTTC	0.433000													14	65					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459673	142459673	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142459673G>A	ENST00000486171.1	+	4	308	c.291G>A	c.(289-291)ggG>ggA	p.G97G	PRSS1_ENST00000311737.7_Silent_p.G83G			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	83	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TCCTGGAGGGGAATGAGCAGT	0.547000													7	185					0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84519872	84519872	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:84519872C>T	ENST00000395226.2	+	12	1419	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	AGPAT9_ENST00000264409.4_Missense_Mutation_p.P401S|AGPAT9_ENST00000509044.1_3'UTR	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	401					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GACTGAACTTCCCTGGTAAGA	0.343000													9	39					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172775	5172775	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5172775G>A	ENST00000380367.1	-	2	1242	c.825C>T	c.(823-825)atC>atT	p.I275I	OR52A1_ENST00000328942.1_Silent_p.I275I			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	275					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGAATATGGATATAAGGGG	0.433000													8	80					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41949548	41949548	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:41949548G>A	ENST00000298919.7	+	7	959	c.571G>A	c.(571-573)Gat>Aat	p.D191N	PDZRN4_ENST00000539469.2_Missense_Mutation_p.D193N|PDZRN4_ENST00000402685.2_Missense_Mutation_p.D451N			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	451							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCGAGAAGGGGATCGGATTTT	0.408000													6	58					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46783737	46783737	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:46783737A>G	ENST00000529230.1	-	32	4080	c.4034T>C	c.(4033-4035)cTg>cCg	p.L1345P	CKAP5_ENST00000354558.3_Missense_Mutation_p.L1345P|CKAP5_ENST00000312055.5_Missense_Mutation_p.L1345P|CKAP5_ENST00000415402.1_Missense_Mutation_p.L1345P			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1345					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CAGCTCTTCCAGGCACTCTGA	0.448000													3	26					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189910551	189910551	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:189910551C>T	ENST00000374866.3	-	46	3558	c.3284G>A	c.(3283-3285)gGa>gAa	p.G1095E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1095					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCTGCATCTCCTGGAGCACC	0.537000													5	43					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54758778	54758778	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:54758778C>T	ENST00000450632.1	-	6	1125	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R	LILRB5_ENST00000449561.2_Missense_Mutation_p.G359R|LILRB5_ENST00000316219.5_Missense_Mutation_p.G359R|LILRB5_ENST00000345866.6_Missense_Mutation_p.G259R			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	359	Ig-like C2-type 4.				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)		TGGGCTGCCCCCTCCTTGGTC	0.562000													3	43					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516851	157516851	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:157516851C>T	ENST00000361835.3	-	3	346	c.189G>A	c.(187-189)ggG>ggA	p.G63G	FCRL5_ENST00000368190.3_Silent_p.G63G|FCRL5_ENST00000368189.3_Silent_p.G63G|FCRL5_ENST00000368188.2_Silent_p.G63G|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000356953.4_Silent_p.G63G	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	63	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTATTTCTTTCCCAAGGTACC	0.502000													8	75					0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47984043	47984043	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:47984043G>A	ENST00000338134.3	-	6	680	c.573C>T	c.(571-573)ttC>ttT	p.F191F	KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	191					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		TCAGCTCTGGGAAGAGGTTTT	0.597000													16	181					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44798973	44798973	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:44798973C>T	ENST00000309315.4	+	7	1030	c.907C>T	c.(907-909)Cct>Tct	p.P303S	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P303S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P271S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P271S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P303S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	303	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGCCCCCTCCCCTTCCTACCC	0.657000													6	97					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17592200	17592200	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:17592200G>A	ENST00000375460.3	+	4	433	c.393G>A	c.(391-393)agG>agA	p.R131R		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	131					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGCAGGACAGGAACTTTGTAG	0.542000													9	105					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134034310	134034310	+	Silent	SNP	C	C	T	rs148528207		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:134034310C>T	ENST00000220616.4	+	40	6991	c.6951C>T	c.(6949-6951)atC>atT	p.I2317I	TG_ENST00000377869.1_Silent_p.I2260I|TG_ENST00000542445.1_Silent_p.I687I|TG_ENST00000519543.1_Silent_p.I450I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2317					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)		GGCCGGCTATCGACGGCTCCT	0.577000													20	79					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21640765	21640765	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:21640765T>C	ENST00000328843.6	+	17	3424	c.3393T>C	c.(3391-3393)ttT>ttC	p.F1131F	DNAH11_ENST00000409508.3_Silent_p.F1131F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1131	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCTGGATGTTTCAGGAGCATC	0.348000									Kartagener syndrome				7	41					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55152041	55152041	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:55152041C>T	ENST00000414150.2	+	15	2909	c.2631C>T	c.(2629-2631)atC>atT	p.I877I	MROH7_ENST00000339553.5_Silent_p.I877I|MROH7_ENST00000409996.1_Silent_p.I445I|MROH7_ENST00000395690.2_Silent_p.I877I|MROH7_ENST00000421030.2_Silent_p.I877I|MROH7_ENST00000545244.1_Silent_p.I445I|MROH7_ENST00000454855.2_Silent_p.I395I					maestro heat-like repeat family member 7																		ATTACCACATCGGCCTCAACC	0.622000													13	43					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7786873	7786873	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:7786873G>A	ENST00000358415.4	+	19	2694	c.2528G>A	c.(2527-2529)gGa>gAa	p.G843E	ITIH2_ENST00000379587.4_Missense_Mutation_p.G832E	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	843					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GACTTTCTGGGAATCTACATA	0.428000													22	77					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155026977	155026977	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:155026977C>T	ENST00000356955.2	+	6	708	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368412.3_Missense_Mutation_p.R203C|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000360674.4_Missense_Mutation_p.R203C|ADAM15_ENST00000271836.6_Missense_Mutation_p.R203C|ADAM15_ENST00000359280.4_Missense_Mutation_p.R203C|ADAM15_ENST00000531455.1_Missense_Mutation_p.R213C|ADAM15_ENST00000449910.2_Missense_Mutation_p.R203C|ADAM15_ENST00000355956.2_Missense_Mutation_p.R203C|ADAM15_ENST00000447332.3_Missense_Mutation_p.R187C	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	203					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GCGCCACATTCGCCGGGTGAG	0.597000													9	49					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764322	77764322	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:77764322T>A	ENST00000521891.2	+	10	5613	c.5165T>A	c.(5164-5166)tTt>tAt	p.F1722Y	ZFHX4_ENST00000455469.2_Missense_Mutation_p.F1677Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.F1696Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.F1677Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1677	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			TTGCCTCATTTTCCTATGACC	0.478000										HNSCC(33;0.089)			7	65					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600878	141600878	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:141600878G>A	ENST00000442267.2	-	4	554	c.480C>T	c.(478-480)ctC>ctT	p.L160L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	160	GRAM 1.					intracellular	calcium ion binding|Rab GTPase activator activity	p.L160L(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AATAGTTGACGAGTTTCTCTT	0.418000													6	31					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38484883	38484883	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38484883C>T	ENST00000263409.4	-	18	2747	c.2585G>A	c.(2584-2586)cGa>cAa	p.R862Q	LIFR_ENST00000453190.2_Missense_Mutation_p.R862Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	862					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTACCATTCTCGTTTCCGATA	0.363000			T	PLAG1	salivary adenoma								8	21					0	0	1	0	0
CHMP1A	5119	broad.mit.edu	37	16	89715852	89715852	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:89715852G>A	ENST00000253475.5	-	3	271	c.139C>T	c.(139-141)Ccg>Tcg	p.P47S	CHMP1A_ENST00000397901.3_Silent_p.I53I|CHMP1A_ENST00000550102.1_Silent_p.I53I|CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000535997.2_5'UTR	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	0					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		TCTTCTTGCGGATGGCGTTCT	0.577000													8	61					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679806	100679806	+	Silent	SNP	C	C	T	rs71525815		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100679806C>T	ENST00000306151.4	+	3	5173	c.5109C>T	c.(5107-5109)gcC>gcT	p.A1703A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1703	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A1703A(1)		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)					CACCGGTGGCCAGCTCTGCAA	0.478000													99	236					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172558946	172558946	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:172558946G>A	ENST00000367723.3	+	17	3285	c.3161G>A	c.(3160-3162)gGa>gAa	p.G1054E	SUCO_ENST00000263688.3_Missense_Mutation_p.G902E	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		TATGCTAATGGAAATCTTGTA	0.373000													17	82					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52052448	52052448	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:52052448C>T	ENST00000340057.1	+	2	120	c.75C>T	c.(73-75)atC>atT	p.I25I		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	25					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					AGGCAGGAATCACAATCCCAC	0.478000													38	249					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113890711	113890711	+	Silent	SNP	G	G	A	rs143953030		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:113890711G>A	ENST00000383673.2	-	2	559	c.129C>T	c.(127-129)atC>atT	p.I43I	DRD3_ENST00000295881.7_Silent_p.I43I|DRD3_ENST00000460779.1_Silent_p.I43I|DRD3_ENST00000467632.1_Silent_p.I43I	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	43					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TGCCGAAGACGATGGCCAGGA	0.607000													12	62					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1739028	1739028	+	Silent	SNP	C	C	T	rs62285111	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:1739028C>T	ENST00000313288.4	+	9	1915	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	603						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TTGTGGAGTTCGATTTCTTGG	0.537000													4	40					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150815396	150815396	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150815396C>T	ENST00000397238.2	+	6	806	c.806C>T	c.(805-807)aCc>aTc	p.T269I	AGAP3_ENST00000463381.1_Missense_Mutation_p.T41I|AGAP3_ENST00000479901.1_Missense_Mutation_p.T269I|AGAP3_ENST00000335367.3_Missense_Mutation_p.T449I|AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000473312.1_Missense_Mutation_p.T269I	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	233	Small GTPase-like.				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						ACGTGCGCGACCTACGGGCTC	0.632000													8	136					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113856811	113856811	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:113856811G>A	ENST00000504030.2	+	6	1064	c.619G>A	c.(619-621)Gga>Aga	p.G207R	HTR3A_ENST00000355556.2_Missense_Mutation_p.G213R|HTR3A_ENST00000299961.5_Missense_Mutation_p.G192R|HTR3A_ENST00000506841.2_Missense_Mutation_p.G207R|HTR3A_ENST00000375498.2_Missense_Mutation_p.G213R|HTR3A_ENST00000535865.1_Intron			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	207					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CATGAACCAGGGAGAGTGGGA	0.493000													19	227					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48379322	48379322	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:48379322G>A	ENST00000380518.3	-	26	1893	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	COL2A1_ENST00000337299.6_Missense_Mutation_p.P508S|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	577	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTTACAGAAGGGCCAACTTTG	0.597000													10	132					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40933179	40933179	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:40933179G>A	ENST00000246914.5	+	1	484	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	155					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCGGGAGCAGGAAGAAAAGGA	0.647000													6	57					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783475	54783475	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:54783475G>A	ENST00000391748.1	-	5	510	c.383C>T	c.(382-384)gCc>gTc	p.A128V	LILRB2_ENST00000391749.4_Missense_Mutation_p.A128V|LILRB2_ENST00000314446.5_Missense_Mutation_p.A128V|LILRB2_ENST00000434421.1_Missense_Mutation_p.A12V|LILRB2_ENST00000391746.1_Missense_Mutation_p.A128V	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	128	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTGGGCTGGGCTGAGAGGGT	0.587000													20	107					0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132891670	132891670	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:132891670C>T	ENST00000275198.1	+	1	210	c.210C>T	c.(208-210)ctC>ctT	p.L70L		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	70						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CCAATTTTCTCGTTGCCTCTC	0.522000													9	71					0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42526713	42526713	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:42526713T>A	ENST00000360608.5	-	1	195	c.81A>T	c.(79-81)caA>caT	p.Q27H	NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.Q27H|CYP2D6_ENST00000359033.4_Missense_Mutation_p.Q27H	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	27							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGCCCAGCGTTGGCGCCGGT	0.632000													4	10					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262019	158262019	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158262019G>A	ENST00000368170.3	+	3	753	c.474G>A	c.(472-474)ttG>ttA	p.L158L		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	158					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTGGAAGTTTGGCCCAAAGTG	0.453000													32	226					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2578366	2578366	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:2578366G>A	ENST00000340611.4	-	14	2059	c.1803C>T	c.(1801-1803)tcC>tcT	p.S601S	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	601					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CCGAGTCTACGGAGAGGATGT	0.672000													7	51					0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19465213	19465213	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:19465213C>T	ENST00000392313.5	+	17	1644	c.1598C>T	c.(1597-1599)cCg>cTg	p.P533L	MAU2_ENST00000262815.8_Missense_Mutation_p.P533L	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	533					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						AGCAAGATCCCGGACATGTCG	0.617000													8	43					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3648694	3648694	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:3648694G>A	ENST00000335312.3	-	9	1228	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	PIP5K1C_ENST00000589578.1_Silent_p.I380I|PIP5K1C_ENST00000537021.1_Silent_p.I380I|PIP5K1C_ENST00000539785.1_Silent_p.I380I	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	380	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCACAGCGGGGATCCCGCCCA	0.682000													10	61					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12649237	12649237	+	Splice_Site	SNP	G	G	A	rs138967735		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:12649237G>A	ENST00000425538.1	+	9	1173	c.971_splice	c.e9-1	p.E325_splice	MYOCD_ENST00000395988.1_Splice_Site_p.E229_splice|MYOCD_ENST00000343344.4_Splice_Site_p.E325_splice	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	325					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.E325K(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GTTTTTTAGGGAACCAAATGA	0.418000													11	119					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138400076	138400076	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:138400076G>A	ENST00000409968.1	+	21	3996	c.3818G>A	c.(3817-3819)cGa>cAa	p.R1273Q	THSD7B_ENST00000413152.2_Missense_Mutation_p.R1245Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1276Q|THSD7B_ENST00000543459.1_Intron					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)		AGCCGGACTCGATTTATCATT	0.498000													17	91					0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159584071	159584071	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:159584071G>A	ENST00000337808.6	+	3	1455		c.e3+1		SCHIP1_ENST00000445224.2_Splice_Site|IQCJ-SCHIP1_ENST00000527095.1_Splice_Site|IQCJ-SCHIP1_ENST00000460298.1_Splice_Site|SCHIP1_ENST00000482804.1_Splice_Site|IQCJ-SCHIP1_ENST00000412423.2_Splice_Site|IQCJ-SCHIP1_ENST00000485419.1_Splice_Site|IQCJ-SCHIP1_ENST00000476809.1_Splice_Site	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN								cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						TTTCCTCCCGGTGAGTGTTCT	0.388000													39	88					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100492726	100492726	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:100492726G>A	ENST00000395209.3	+	5	927	c.400G>A	c.(400-402)Gat>Aat	p.D134N	DRP2_ENST00000402866.1_Missense_Mutation_p.D134N|DRP2_ENST00000541709.1_Missense_Mutation_p.D56N|DRP2_ENST00000538510.1_Missense_Mutation_p.D134N	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	134					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCTACAGGGGGATGTGGCCCT	0.542000													20	80					0	0	1	0	0
TRDV1	28518	broad.mit.edu	37	14	22564730	22564730	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22564730C>T	ENST00000390452.2	+	0	199																											CAAGCAACTTCCCAGCAAAGA	0.428000													8	74					0	0	1	0	0
CXCL9	4283	broad.mit.edu	37	4	76928579	76928579	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:76928579G>A	ENST00000264888.5	-	1	62	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	8					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCCCAAGAGGAAAAGAACAC	0.398000													19	75					0	0	1	0	0
MEIS3	56917	broad.mit.edu	37	19	47918073	47918073	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:47918073C>T	ENST00000331559.5	-	6	889		c.e6-1		MEIS3_ENST00000441740.2_Splice_Site|MEIS3_ENST00000558555.1_Silent_p.K166K|MEIS3_ENST00000559524.1_Silent_p.K166K|MEIS3_ENST00000561293.1_Silent_p.K166K|MEIS3_ENST00000561096.1_Silent_p.K254K	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GCATCTTTCCCTTGAGGCAGG	0.682000													8	46					0	0	1	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22433746	22433746	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22433746C>T	ENST00000390442.3	+	0	67																											ATGATGAAATCCTTGAGAGTT	0.348000													4	51					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97194206	97194206	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:97194206G>A	ENST00000389672.5	+	8	1943	c.1905G>A	c.(1903-1905)atG>atA	p.M635I	EPHA6_ENST00000442602.2_Start_Codon_SNP_p.M1I|EPHA6_ENST00000502694.1_Missense_Mutation_p.M27I|EPHA6_ENST00000514100.1_Missense_Mutation_p.M27I	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	540	Protein kinase.					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						CTTCTGACATGGCAGCAGAAC	0.403000													6	22					0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39116612	39116612	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39116612C>T	ENST00000355612.2	-	6	1173	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	380	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGCAGGATCTCGTATTCTTGG	0.517000													13	72					0	0	1	0	0
TRBV28	28559	broad.mit.edu	37	7	142428773	142428773	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142428773G>A	ENST00000390400.2	+	0	153																											ATGTGTCCAGGATATGGACCA	0.428000													9	33					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45843610	45843610	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:45843610G>A	ENST00000397928.1	+	23	3989	c.3544G>A	c.(3544-3546)Gag>Aag	p.E1182K	TRPM2_ENST00000397932.2_Missense_Mutation_p.E1232K|TRPM2_ENST00000300482.5_Missense_Mutation_p.E1182K|TRPM2_ENST00000300481.9_Missense_Mutation_p.E1162K|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1182						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTCCCTGGAGGAGCAGGTGGG	0.657000													4	20					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158896490	158896490	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:158896490G>A	ENST00000262178.2	-	4	500	c.315C>T	c.(313-315)ttC>ttT	p.F105F	VIPR2_ENST00000402066.1_Silent_p.F246F	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	105					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		AGGCATCGACGAAATCTGGGA	0.498000													14	71					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73046898	73046898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:73046898G>A	ENST00000261180.4	+	17	2907	c.2811G>A	c.(2809-2811)tgG>tgA	p.W937*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	937					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCTTGCCTGGAAGTTTTTCA	0.383000													8	30					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26656577	26656577	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:26656577G>A	ENST00000256737.3	+	20	2855	c.2003G>A	c.(2002-2004)gGa>gAa	p.G668E	ANO3_ENST00000525139.1_Missense_Mutation_p.G652E|ANO3_ENST00000531568.1_Missense_Mutation_p.G522E|ANO3_ENST00000537978.1_Missense_Mutation_p.G652E	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	668						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GGCCACCCAGGAAAATACAAT	0.448000													15	70					0	0	1	0	0
PEX2	5828	broad.mit.edu	37	8	77895753	77895753	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:77895753G>A	ENST00000419564.2	-	4	1126	c.662C>T	c.(661-663)tCt>tTt	p.S221F	PEX2_ENST00000522527.1_Missense_Mutation_p.S221F|PEX2_ENST00000357039.4_Missense_Mutation_p.S221F|PEX2_ENST00000520103.1_Missense_Mutation_p.S221F	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	221					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						ACACCATGAAGACAGCTTGGC	0.428000													11	79					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80394569	80394569	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:80394569C>T	ENST00000337014.6	+	7	1132	c.658C>T	c.(658-660)Ccg>Tcg	p.P220S	HEXDC_ENST00000327949.9_Missense_Mutation_p.P220S|HEXDC_ENST00000577944.1_Missense_Mutation_p.P220S	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	220					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTGGTGGAGCCGGTGCTCTG	0.652000													3	24					0	0	1	0	0
CKAP2	26586	broad.mit.edu	37	13	53039548	53039548	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:53039548C>T	ENST00000378037.5	+	6	1517	c.1427C>T	c.(1426-1428)cCt>cTt	p.P476L	CKAP2_ENST00000490903.1_Missense_Mutation_p.P427L|CKAP2_ENST00000258607.5_Missense_Mutation_p.P475L|CKAP2_ENST00000378034.3_Missense_Mutation_p.P475L	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	476					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ATCACAAGTCCTATTGAAAAT	0.338000													6	66					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886953	123886953	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123886953C>T	ENST00000320891.4	+	1	672	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCTGTTCCATCCTGCGGATCC	0.527000													4	75					0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008759	88008759	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:88008759G>A	ENST00000276127.4	+	3	603	c.344G>A	c.(343-345)gGg>gAg	p.G115E	CPXCR1_ENST00000373111.1_Missense_Mutation_p.G115E	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	115						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCCCACTCAGGGAAAGTTGAG	0.388000													9	19					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109687800	109687800	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:109687800C>T	ENST00000277225.5	+	3	1896	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	ZNF462_ENST00000457913.1_Missense_Mutation_p.P536L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	536					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P536L(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATGTTGGATCCCTTGCAGCAG	0.557000													11	35					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68009769	68009769	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:68009769T>C	ENST00000268793.4	-	10	1814	c.1441A>G	c.(1441-1443)Acc>Gcc	p.T481A		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	456					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		ACCCGATTGGTTGGCTGCTTG	0.587000													6	24					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183090914	183090914	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:183090914C>T	ENST00000258341.4	+	12	2304	c.2047C>T	c.(2047-2049)Cct>Tct	p.P683S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	683	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTGGAGTCCCTGCAACTTG	0.498000													4	34					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059200	248059200	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248059200C>T	ENST00000537741.1	+	3	569	c.312C>T	c.(310-312)ttC>ttT	p.F104F	OR2W3_ENST00000360358.3_Silent_p.F104F			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTTCCTGTTCCTGGGTCTGG	0.552000													15	67					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519768	53519768	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:53519768G>A	ENST00000370905.3	-	2	443	c.303C>T	c.(301-303)atC>atT	p.I101I	KLHL31_ENST00000407079.1_Silent_p.I101I	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	101	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CTTTTTTTAGGATGTTGTAAA	0.423000													11	105					0	0	1	0	0
PBX4	80714	broad.mit.edu	37	19	19681073	19681073	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:19681073G>A	ENST00000251203.8	-	4	763	c.477C>T	c.(475-477)ctC>ctT	p.L159L		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	159							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GCTCCTGGAGGAGGTTGGTGA	0.622000													3	20					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135496363	135496363	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:135496363G>A	ENST00000394143.1	+	25	9373	c.9082G>A	c.(9082-9084)Gga>Aga	p.G3028R	GPR112_ENST00000287534.4_Missense_Mutation_p.G2747R|GPR112_ENST00000394141.1_Missense_Mutation_p.G2823R|GPR112_ENST00000412101.1_Missense_Mutation_p.G2823R|GPR112_ENST00000370652.1_Missense_Mutation_p.G3028R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3028					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)					TAAACAGGAGGGACTAAAGAA	0.388000													30	86					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629266	47629266	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:47629266G>A	ENST00000546455.1	+	4	1151	c.420G>A	c.(418-420)ctG>ctA	p.L140L	PCED1B_ENST00000432328.1_Silent_p.L140L					PC-esterase domain containing 1B																		GAAGCTACCTGGAGAACCTGG	0.617000													11	65					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57288585	57288585	+	Silent	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:57288585C>G	ENST00000543872.2	+	2	1437	c.1173C>G	c.(1171-1173)tcC>tcG	p.S391S	SMG8_ENST00000300917.5_Silent_p.S391S|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Silent_p.S391S|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	391					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AACAACTTTCCTTTCACATTG	0.512000													9	82					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997211	82997211	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82997211C>T	ENST00000307792.3	-	17	2486	c.2019G>A	c.(2017-2019)gtG>gtA	p.V673V	SEMA3E_ENST00000427262.1_Silent_p.V613V	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	673					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCTCCTCTTCCACTACCTCCA	0.478000													5	49					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31167798	31167798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:31167798C>T	ENST00000349752.5	-	8	1392	c.753G>A	c.(751-753)tgG>tgA	p.W251*	GALNT14_ENST00000356174.3_Nonsense_Mutation_p.W218*|GALNT14_ENST00000324589.5_Nonsense_Mutation_p.W256*|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.W231*|GALNT14_ENST00000420311.2_Nonsense_Mutation_p.W216*	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	251						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)					AGTGGAGGCTCCAGTCAAACC	0.582000													10	42					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136386	55136386	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55136386C>T	ENST00000314706.3	+	1	1027	c.1027C>T	c.(1027-1029)Cac>Tac	p.H343Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	343					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGGCTGTATCACTCATGAGA	0.358000													4	72					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59195287	59195287	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:59195287C>T	ENST00000262717.4	+	7	1503	c.1105C>T	c.(1105-1107)Cca>Tca	p.P369S	CDH20_ENST00000538374.1_Missense_Mutation_p.P369S|CDH20_ENST00000536675.2_Missense_Mutation_p.P369S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	369	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAACTTGGGCCCATTTCAGGA	0.493000													6	78					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14840739	14840739	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:14840739C>T	ENST00000282096.4	+	7	2144	c.1791C>T	c.(1789-1791)tgC>tgT	p.C597C	PDE3B_ENST00000455098.2_Silent_p.C546C	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	597					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTACAGATTGCTGCAGTGGAA	0.299000													11	46					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87726097	87726097	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:87726097G>A	ENST00000305344.4	+	2	1748	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	HTR1E_ENST00000369584.1_Missense_Mutation_p.E349K	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	349					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.E349K(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GAGTTTTAATGAAGACTTTAA	0.443000													9	91					0	0	1	0	0
NAMPT	10135	broad.mit.edu	37	7	105904035	105904035	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:105904035C>G	ENST00000222553.3	-	7	1079	c.772G>C	c.(772-774)Gaa>Caa	p.E258Q	NAMPT_ENST00000354289.4_Missense_Mutation_p.E258Q	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	258					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GCATCTTTTTCATGGTCTTTC	0.358000													6	104					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631910	32631910	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:32631910T>A	ENST00000242310.4	-	1	3757	c.3668A>T	c.(3667-3669)aAa>aTa	p.K1223I		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1223					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGAATGAATTTCTCATCTTT	0.453000													22	71					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94671218	94671218	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94671218C>T	ENST00000260526.6	-	6	714	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.E178K	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	178					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCCACTGATTCCACAGAAACA	0.318000													14	65					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872784	55872784	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55872784C>T	ENST00000313503.1	+	1	266	c.266C>T	c.(265-267)tCc>tTc	p.S89F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S89Y(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTACTGACTTCCAACTATATT	0.433000										HNSCC(53;0.14)			25	326					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234072391	234072391	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:234072391C>T	ENST00000359570.5	+	14	1243	c.1243C>T	c.(1243-1245)Ctc>Ttc	p.L415F	INPP5D_ENST00000455936.2_Missense_Mutation_p.L179F|INPP5D_ENST00000538935.1_Missense_Mutation_p.L414F|INPP5D_ENST00000450745.1_Missense_Mutation_p.L179F			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	427					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GTCCTGGTTTCTCTCCAAGGG	0.547000													31	96					0	0	1	0	0
CALU	813	broad.mit.edu	37	7	128398930	128398930	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:128398930C>T	ENST00000542996.2	+	5	1388	c.445C>T	c.(445-447)Cca>Tca	p.P149S	CALU_ENST00000449187.2_Missense_Mutation_p.P141S|CALU_ENST00000538546.1_5'UTR|CALU_ENST00000535011.2_Missense_Mutation_p.P141S|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000479257.1_Missense_Mutation_p.P149S|CALU_ENST00000249364.4_Missense_Mutation_p.P141S	NM_001199672.1	NP_001186601.1	O43852	CALU_HUMAN	calumenin	141					platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						TCTAGATGATCCAGATCCTGA	0.363000													6	137					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087899	9087899	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9087899C>T	ENST00000397910.4	-	1	4119	c.3916G>A	c.(3916-3918)Gag>Aag	p.E1306K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1306	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E1306Q(2)		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						GCTGTCATCTCAGGTGAAGAC	0.498000													6	106					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18688182	18688182	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:18688182C>T	ENST00000406451.3	+	11	1484	c.1334C>T	c.(1333-1335)cCc>cTc	p.P445L	HDAC9_ENST00000405010.3_Missense_Mutation_p.P445L|HDAC9_ENST00000441542.2_Missense_Mutation_p.P448L|HDAC9_ENST00000432645.2_Missense_Mutation_p.P445L|HDAC9_ENST00000456174.2_Missense_Mutation_p.P417L|HDAC9_ENST00000401921.1_Missense_Mutation_p.P404L|HDAC9_ENST00000524023.1_Missense_Mutation_p.P368L|HDAC9_ENST00000406072.1_Missense_Mutation_p.P432L|HDAC9_ENST00000417496.2_Missense_Mutation_p.P443L|HDAC9_ENST00000428307.2_Missense_Mutation_p.P401L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	445					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CGTCACAGACCCCTGAACCGA	0.502000													16	54					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	175956224	175956224	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:175956224G>A	ENST00000367669.3	-	18	2502	c.1988C>T	c.(1987-1989)tCt>tTt	p.S663F	RFWD2_ENST00000308769.8_Missense_Mutation_p.S639F	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	663					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAGGTAGAGAGAGTTATTTTC	0.303000													3	46					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705003	30705003	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:30705003C>T	ENST00000256246.2	-	1	1605	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	511										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)		CTGAAATTTTCGTTTGTATGA	0.303000													8	42					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63411576	63411576	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:63411576G>A	ENST00000330258.3	-	2	1863	c.1591C>T	c.(1591-1593)Cga>Tga	p.R531*	AMER1_ENST00000403336.1_Nonsense_Mutation_p.R531*|AMER1_ENST00000374869.3_Nonsense_Mutation_p.R531*	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TCAGAGCTTCGACCATGGAGG	0.507000													10	20					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997344	146997344	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:146997344C>T	ENST00000361727.3	+	9	1976	c.1460C>T	c.(1459-1461)cCc>cTc	p.P487L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	487	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTAATAGTCCCCTTCAAGTT	0.403000										HNSCC(39;0.1)			10	78					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20248603G>A	ENST00000315957.4	+	1	203	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTACCAGGAAATATCCTT	0.423000													34	463					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88036196	88036196	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:88036196C>T	ENST00000307808.6	+	11	2610	c.2190C>T	c.(2188-2190)gtC>gtT	p.V730V	AFF1_ENST00000544085.1_Silent_p.V368V|AFF1_ENST00000395146.4_Silent_p.V737V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	730						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCGTGGTGGTCCAGGAGGACA	0.617000													6	33					0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172351850	172351850	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:172351850G>A	ENST00000475381.1	-	5	875	c.642C>T	c.(640-642)ctC>ctT	p.L214L	NCEH1_ENST00000273512.3_Silent_p.L246L|NCEH1_ENST00000543711.1_Silent_p.L81L|NCEH1_ENST00000538775.1_Silent_p.L254L			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	214					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CTTGTAGTTTGAGCTTATTTT	0.368000													7	50					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33135238	33135238	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:33135238C>T	ENST00000341947.2	-	56	4314	c.4087G>A	c.(4087-4089)Ggc>Agc	p.G1363S	COL11A2_ENST00000395197.1_Missense_Mutation_p.G1303S|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1256S|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1282S|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1277S|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1337S|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1342S|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1316S	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1363	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCATCAGGGCCAGGTTTCCCT	0.652000													5	63					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2415035	2415035	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:2415035C>T	ENST00000360876.4	+	14	1957	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V	EIF3B_ENST00000397011.2_Missense_Mutation_p.A634V	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	634					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		ATGAACGGTGCCTTAGCGTTT	0.582000													17	107					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846191	55846191	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55846191C>T	ENST00000322678.1	+	1	194	c.194C>T	c.(193-195)tCc>tTc	p.S65F	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AGAAATTTTTCCTTCTTAGAA	0.398000													17	67					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176984009	176984009	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:176984009C>T	ENST00000367654.2	-	8	1478	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.E481K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E481K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E481K			O14525	ASTN1_HUMAN	astrotactin 1	489	EGF-like 1.				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						CAGAGGCATTCCCCTTAGAAG	0.433000													35	209					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155509978	155509978	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:155509978C>T	ENST00000302053.3	-	3	409	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	FGA_ENST00000403106.3_Missense_Mutation_p.E111K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	111					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTCAAAATTTCCATTATATTA	0.274000													16	75					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168098223	168098223	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:168098223C>T	ENST00000519560.1	-	34	4526	c.4107G>A	c.(4105-4107)cgG>cgA	p.R1369R	SLIT3_ENST00000404867.3_Silent_p.R1369R|SLIT3_ENST00000332966.8_Silent_p.R1376R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1369	EGF-like 8.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCAGGGGTCCCGGGCCTCCT	0.677000													10	46					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152485376	152485376	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:152485376G>A	ENST00000367255.5	-	131	24313	c.23712C>T	c.(23710-23712)atC>atT	p.I7904I	SYNE1_ENST00000265368.4_Silent_p.I7904I|SYNE1_ENST00000423061.1_Silent_p.I7833I|SYNE1_ENST00000354674.4_Silent_p.I59I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Silent_p.I7833I|SYNE1_ENST00000341594.5_Silent_p.I7516I|SYNE1_ENST00000356820.4_Silent_p.I2428I|SYNE1_ENST00000539504.1_Silent_p.I59I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7904					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCTGACTCGATGTGAGCGA	0.502000										HNSCC(10;0.0054)			7	85					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115947744	115947744	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:115947744A>G	ENST00000251864.2	+	2	307	c.154A>G	c.(154-156)Aat>Gat	p.N52D	TDRD1_ENST00000369281.2_Missense_Mutation_p.N52D|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369280.1_Missense_Mutation_p.N52D|TDRD1_ENST00000369282.1_Missense_Mutation_p.N52D	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	52					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TAACCACCCTAATTTCAGGCT	0.363000													6	95					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21265251	21265251	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21265251G>A	ENST00000233242.1	-	3	346	c.219C>T	c.(217-219)gcC>gcT	p.A73A	APOB_ENST00000399256.4_Silent_p.A73A	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	73	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGATCCTGGTGGCACTTCTTG	0.572000													17	72					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54395784	54395784	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:54395784G>A	ENST00000263431.3	+	7	990	c.708G>A	c.(706-708)gtG>gtA	p.V236V	PRKCG_ENST00000542049.1_Silent_p.V123V|PRKCG_ENST00000540413.1_Silent_p.V236V|PRKCG_ENST00000536044.1_Silent_p.V236V	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	236	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CAGGGGATGTGGAGCGCCGGC	0.662000													5	23					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73062953	73062953	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73062953G>A	ENST00000429829.1	-	0	9635					NR_001564.2																						AGGTCAGGGAGGGAGAAAACC	0.463000													8	29					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055379	72055379	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:72055379G>A	ENST00000555818.1	+	2	1138	c.790G>A	c.(790-792)Ggg>Agg	p.G264R	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.G264R|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.G264R	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	264					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGTAATAGACGGGCCTATCTC	0.443000													10	53					0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40433627	40433627	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:40433627C>T	ENST00000301825.3	+	3	272	c.154C>T	c.(154-156)Cct>Tct	p.P52S	ENTPD3_ENST00000456402.1_Missense_Mutation_p.P52S|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.P52S|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	52						integral to membrane	ATP binding|hydrolase activity	p.P52S(2)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		AGAGGTCCTCCCTCCAGGACT	0.453000													13	59					0	0	1	0	0
UBE2J2	118424	broad.mit.edu	37	1	1190811	1190811	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:1190811G>A	ENST00000347370.2	-	7	869	c.396C>T	c.(394-396)ctC>ctT	p.L132L	UBE2J2_ENST00000349431.6_Silent_p.L184L|UBE2J2_ENST00000360466.2_Silent_p.L184L|UBE2J2_ENST00000339385.6_Silent_p.L149L|UBE2J2_ENST00000400930.4_Silent_p.L200L|UBE2J2_ENST00000348298.7_Silent_p.L132L|UBE2J2_ENST00000400929.2_Silent_p.L132L	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	184					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CTGGCAAGGGGAGAGTCTGGG	0.567000													20	178					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52535658	52535658	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:52535658G>A	ENST00000321725.6	+	3	296	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	74					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)		CCCCAGCTACGAAGTACAGCT	0.652000													3	4					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38652966	38652966	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:38652966C>T	ENST00000222345.6	+	14	4244	c.3735C>T	c.(3733-3735)tcC>tcT	p.S1245S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1245					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCACCCGTCCAGGCAGGATG	0.627000													4	28					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73713655	73713655	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:73713655G>A	ENST00000342056.2	+	2	821	c.423G>A	c.(421-423)ttG>ttA	p.L141L	KCNQ5_ENST00000370392.1_Silent_p.L141L|KCNQ5_ENST00000414165.2_Silent_p.L141L|KCNQ5_ENST00000403813.2_Silent_p.L141L|KCNQ5_ENST00000402622.2_Silent_p.L141L|KCNQ5_ENST00000370398.1_Silent_p.L141L|KCNQ5_ENST00000355635.3_Silent_p.L141L|KCNQ5_ENST00000355194.4_Silent_p.L141L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	141					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTGGTTGCTTGATTTTGTCAG	0.363000													8	47					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836235	12836235	+	Silent	SNP	C	C	T	rs111797423		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:12836235C>T	ENST00000357726.4	+	2	864	c.837C>T	c.(835-837)ctC>ctT	p.L279L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	279										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	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;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTTTCCTCGAAGGCCACC	0.498000													12	144					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150933	128150933	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:128150933C>T	ENST00000368250.1	-	4	658	c.160G>A	c.(160-162)Ggt>Agt	p.G54S	THEMIS_ENST00000368248.2_Missense_Mutation_p.G133S|THEMIS_ENST00000543064.1_Missense_Mutation_p.G133S|THEMIS_ENST00000537166.1_Missense_Mutation_p.G98S			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	133	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATTTGCTCACCCTGCTTTATG	0.398000													13	78					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70960074	70960074	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:70960074T>C	ENST00000322954.6	-	16	3134	c.2949A>G	c.(2947-2949)gtA>gtG	p.V983V	UACA_ENST00000379983.2_Silent_p.V970V|UACA_ENST00000539319.1_Silent_p.V874V|UACA_ENST00000560441.1_Silent_p.V968V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	983						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GGGCGTATTTTACCTTAATGC	0.408000													13	64					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6204140	6204140	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:6204140G>A	ENST00000262450.3	-	12	1977	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	626	Chromo 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGATGTCATCGATCTCCCAGG	0.592000													42	145					0	0	1	0	0
SCGB2B2	284402	broad.mit.edu	37	19	35085145	35085145	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:35085145G>A	ENST00000601241.1	-	3	2281	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F	SCGB2B2_ENST00000379204.2_Missense_Mutation_p.L61F|SCGB2B2_ENST00000595326.1_Intron			Q4G0G5	SCGBL_HUMAN	secretoglobin, family 2B, member 2	61						extracellular region	binding										TGGACATTGAGGAAGGACTCC	0.502000													8	96					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48056375	48056375	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:48056375C>T	ENST00000316364.5	+	11	1409	c.970C>T	c.(970-972)Cct>Tct	p.P324S	SEMA6D_ENST00000536845.2_Missense_Mutation_p.P324S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P324S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P324S|SEMA6D_ENST00000558816.1_Missense_Mutation_p.P324S|SEMA6D_ENST00000389425.3_Missense_Mutation_p.P324S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P324S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P324S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P324S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P324S|SEMA6D_ENST00000355997.3_Missense_Mutation_p.P324S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P324S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	324	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTTCAGCATCCCTGGTTCTGC	0.453000													18	73					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49012224	49012224	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49012224C>T	ENST00000600059.1	-	5	668	c.441G>A	c.(439-441)gtG>gtA	p.V147V	LMTK3_ENST00000270238.3_Silent_p.V176V					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCCCAGGATCACCTGGTCAA	0.667000													10	49					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27640068	27640068	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:27640068C>T	ENST00000261588.4	+	4	246	c.227C>T	c.(226-228)gCc>gTc	p.A76V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	76										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTCAACGGTGCCAATTCGGAG	0.517000													13	127					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92623781	92623781	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:92623781C>T	ENST00000298047.6	+	27	13289	c.13272C>T	c.(13270-13272)agC>agT	p.S4424S	FAT3_ENST00000533797.1_Silent_p.S727S|FAT3_ENST00000525166.1_Silent_p.S4274S|FAT3_ENST00000409404.2_Silent_p.S4392S|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4424					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)				AGCTGGAGAGCGATTACTACC	0.587000										TCGA Ovarian(4;0.039)			5	37					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903390	6903390	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:6903390C>T	ENST00000486284.1	+	1	589	c.315C>T	c.(313-315)atC>atT	p.I105I	GRM7_ENST00000403881.1_Silent_p.I105I|GRM7_ENST00000402647.2_Silent_p.I105I|GRM7_ENST00000389336.4_Silent_p.I105I|GRM7_ENST00000357716.4_Silent_p.I105I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	105					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)	GCGCGCGGATCCTGGACACTT	0.602000													6	26					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23810745	23810745	+	Splice_Site	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:23810745T>C	ENST00000354639.3	+	14	2228		c.e14+2		STK31_ENST00000428484.1_Splice_Site|STK31_ENST00000433467.2_Splice_Site|STK31_ENST00000355870.3_Splice_Site|STK31_ENST00000405627.3_Splice_Site	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31								ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGTATTGAGGTTTGATTGTGC	0.303000													4	54					0	0	1	0	0
PVRIG	79037	broad.mit.edu	37	7	99818869	99818869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99818869C>T	ENST00000317271.2	+	6	1339	c.976C>T	c.(976-978)Cga>Tga	p.R326*	GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	326						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTAGGAGTTCGATGAGAGAG	0.607000													3	19					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64048668	64048668	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:64048668G>A	ENST00000443617.2	-	5	1588	c.1501C>T	c.(1501-1503)Ccc>Tcc	p.P501S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	501					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATAAGCTTGGGATATTTCTGT	0.393000													4	98					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56718094	56718094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:56718094G>A	ENST00000425394.2	-	12	2288	c.1912C>T	c.(1912-1914)Cga>Tga	p.R638*	PAN2_ENST00000257931.5_Nonsense_Mutation_p.R638*|PAN2_ENST00000440411.3_Nonsense_Mutation_p.R638*|PAN2_ENST00000548043.1_Nonsense_Mutation_p.R638*	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	638					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCAGCACCTCGATAAGCCTGT	0.473000													21	93					0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3119271	3119271	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:3119271C>T	ENST00000078429.4	+	6	1045	c.803C>T	c.(802-804)tCc>tTc	p.S268F	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	268					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CAGAACTCCTCCGTCATCCTC	0.597000			Mis		uveal melanoma								16	81					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981719	61981719	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:61981719G>A	ENST00000370263.4	-	5	1265	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	348					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CGATGTCCAGGAAGACCCTGC	0.622000													4	51					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	124028187	124028187	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:124028187G>A	ENST00000422452.2	-	3	556	c.493C>T	c.(493-495)Cct>Tct	p.P165S	TENM1_ENST00000371130.3_Missense_Mutation_p.P165S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CAACAAACAGGAGAGAATTTG	0.408000													12	35					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19483628	19483628	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:19483628C>T	ENST00000507958.1	-	14	2654	c.1664G>A	c.(1663-1665)aGa>aAa	p.R555K	CDH18_ENST00000382275.1_Missense_Mutation_p.R555K|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000274170.4_Missense_Mutation_p.R555K|CDH18_ENST00000502796.1_Intron			Q13634	CAD18_HUMAN	cadherin 18, type 2	555	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)					TCGACTAAATCTCCTCCGCCT	0.443000													6	45					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228481133	228481133	+	Silent	SNP	G	G	A	rs140221070	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:228481133G>A	ENST00000570156.2	+	46	12308	c.12234G>A	c.(12232-12234)ctG>ctA	p.L4078L	OBSCN_ENST00000366707.4_Silent_p.L768L|OBSCN_ENST00000422127.1_Silent_p.L3649L|OBSCN_ENST00000359599.6_Silent_p.L2496L|OBSCN_ENST00000284548.11_Silent_p.L3649L|OBSCN_ENST00000366709.4_Silent_p.L768L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3119	Ig-like 42.				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)				GGTGTGAGCTGAGCAAGATGG	0.602000													5	53					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74658690	74658690	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:74658690G>A	ENST00000334011.5	+	2	548	c.330G>A	c.(328-330)ggG>ggA	p.G110G		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	110						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GCTTCAATGGGAACTGCTGTC	0.572000													5	34					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62931460	62931460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:62931460G>A	ENST00000306494.6	-	9	1479	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	494					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GGCAGGGGTCGAGAATATATG	0.493000													10	146					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912754	150912754	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:150912754G>A	ENST00000329903.4	+	6	1812	c.1779G>A	c.(1777-1779)atG>atA	p.M593I		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	593					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CAACCAGCATGGAGGTCGACG	0.577000													27	94					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70908242	70908242	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:70908242G>A	ENST00000393567.2	-	64	11064	c.10914C>T	c.(10912-10914)atC>atT	p.I3638I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3638								p.I3637I(1)|p.I3589I(1)		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)				TGTCCTCGATGATCTCTGTGA	0.488000													14	105					0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118621577	118621577	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:118621577G>A	ENST00000354673.2	-	9	1463	c.1083C>T	c.(1081-1083)acC>acT	p.T361T	IGSF11_ENST00000441144.2_Silent_p.T337T|IGSF11_ENST00000491903.1_Silent_p.T334T|IGSF11_ENST00000393775.2_Silent_p.T362T|IGSF11_ENST00000425327.2_Silent_p.T361T|IGSF11_ENST00000489689.1_Silent_p.T338T	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	362					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGACCAGATGGGTCCCATTAG	0.498000													18	81					0	0	1	0	0
NREP	9315	broad.mit.edu	37	5	111066649	111066649	+	Missense_Mutation	SNP	G	G	A	rs143712463		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:111066649G>A	ENST00000379671.3	-	5	440	c.176C>T	c.(175-177)tCc>tTc	p.S59F	NREP_ENST00000509427.1_Missense_Mutation_p.S59F|NREP_ENST00000509979.1_3'UTR|NREP_ENST00000453526.2_Missense_Mutation_p.S59F|NREP_ENST00000446294.2_Missense_Mutation_p.S59F|NREP_ENST00000447165.2_Missense_Mutation_p.S59F|NREP_ENST00000450761.2_Missense_Mutation_p.S59F|NREP_ENST00000257435.7_Missense_Mutation_p.S59F|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000515855.1_3'UTR|NREP_ENST00000419114.2_Missense_Mutation_p.S59F|NREP_ENST00000508870.1_Missense_Mutation_p.S59F|NREP_ENST00000509025.1_Intron|NREP_ENST00000395634.3_Missense_Mutation_p.S103F|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000455559.2_Missense_Mutation_p.S59F	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN	neuronal regeneration related protein	59						cytoplasm		p.S59F(1)									GATTCTTGGGGAGCGGAGTTC	0.463000													5	79					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117222528	117222528	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:117222528T>C	ENST00000278935.3	+	5	364	c.217T>C	c.(217-219)Tac>Cac	p.Y73H		NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	73	Interaction with ATRIP.|WW.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGGTGACATTTACTATTTCAA	0.463000													17	82					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1260663	1260663	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:1260663C>T	ENST00000310581.5	-	12	2953	c.2896G>A	c.(2896-2898)Gct>Act	p.A966T	TERT_ENST00000334602.6_Missense_Mutation_p.A903T|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	966	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCCTCCCAGCCTTGAAGCCG	0.582000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				6	55					0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23702404	23702404	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:23702404C>T	ENST00000290271.2	-	4	906	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	STC1_ENST00000524323.1_Missense_Mutation_p.R139Q	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	208					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GAAGTCAGCTCGTGGGTGTGT	0.557000													13	65					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453442	179453442	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179453442C>T	ENST00000589042.1	-	304	63234	c.63010G>A	c.(63010-63012)Gaa>Aaa	p.E21004K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11939K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12064K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19363K|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12131K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18436K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19363	Fibronectin type-III 52.						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)			GAATGCTTTTCCTTTTTCTCC	0.418000													9	63					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128114581	128114581	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:128114581G>A	ENST00000284694.7	-	8	2160	c.2040C>T	c.(2038-2040)ctC>ctT	p.L680L	C10orf90_ENST00000544758.1_Silent_p.L777L|C10orf90_ENST00000480379.1_Silent_p.L84L|C10orf90_ENST00000356858.3_Silent_p.L633L|C10orf90_ENST00000454341.1_Silent_p.L583L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	680										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTTCGGCACGGAGTCTGTTAC	0.413000													16	72					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219892669	219892669	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:219892669G>A	ENST00000341552.5	-	13	1997	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	CCDC108_ENST00000409865.3_Silent_p.F627F|CCDC108_ENST00000410037.1_Silent_p.F573F|CCDC108_ENST00000453220.1_Silent_p.F638F|CCDC108_ENST00000441968.1_Silent_p.F638F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	638						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTGCCGTCGAAGAAGAACT	0.617000													6	75					0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121304943	121304943	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121304943C>T	ENST00000334384.3	+	4	454	c.444C>T	c.(442-444)atC>atT	p.I148I		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	148						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GAAACCAGATCCTTCCATCCA	0.502000													16	88					0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13534868	13534868	+	Missense_Mutation	SNP	G	G	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:13534868G>C	ENST00000341083.3	-	5	720	c.424C>G	c.(424-426)Caa>Gaa	p.Q142E	BEND7_ENST00000396900.2_Missense_Mutation_p.Q194E|BEND7_ENST00000396898.2_Missense_Mutation_p.Q207E|BEND7_ENST00000378605.3_Missense_Mutation_p.Q155E	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	194							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TGTCTGTTTTGAGTTCCAACT	0.403000													8	56					0	0	1	0	0
FAM173B	134145	broad.mit.edu	37	5	10239212	10239212	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:10239212G>A	ENST00000511437.1	-	2	285	c.273C>T	c.(271-273)tcC>tcT	p.S91S	FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000510047.1_Silent_p.S91S|FAM173B_ENST00000280330.8_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	91						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						TGTCCACAAGGGATCCTCTTC	0.418000													22	64					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702223	179702223	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179702223G>A	ENST00000420890.2	-	23	3840	c.3723C>T	c.(3721-3723)tcC>tcT	p.S1241S	CCDC141_ENST00000295723.5_Silent_p.S666S|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	666							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAAGGCTGAGGGAGGAGCTGA	0.587000													7	39					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39597142	39597142	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39597142G>A	ENST00000246646.3	-	1	31	c.32C>T	c.(31-33)cCt>cTt	p.P11L		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	11	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCAACCCAGAGGGCATGAGGA	0.577000													13	52					0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566366	5566366	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5566366G>A	ENST00000322653.4	-	1	413	c.388C>T	c.(388-390)Cac>Tac	p.H130Y	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	130			H -> R (in dbSNP:rs1566275).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTACATAGTGATCAAATGCC	0.453000													6	71					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114298150	114298150	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:114298150G>A	ENST00000408937.3	+	12	1745	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S	FOXP2_ENST00000393498.2_Silent_p.S411S|FOXP2_ENST00000403559.4_Silent_p.S449S|FOXP2_ENST00000393494.2_Silent_p.S432S|FOXP2_ENST00000393489.3_Silent_p.S340S|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Silent_p.S432S|FOXP2_ENST00000393491.3_Intron	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	432					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TCACCATGTCGAAGAATATGT	0.488000													20	84					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6302298	6302298	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:6302298C>T	ENST00000344683.5	+	8	1131	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F	MCPH1_ENST00000522905.1_Missense_Mutation_p.S304F|MCPH1_ENST00000519480.1_Missense_Mutation_p.S352F	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	352						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CCCAGGAGTTCCTCAGTAAAG	0.453000													5	24					0	0	1	0	0
C8orf22	492307	broad.mit.edu	37	8	49986695	49986695	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:49986695G>A	ENST00000303202.8	+	3	306	c.133_splice	c.e3+1	p.G45_splice	C8orf22_ENST00000522267.1_Splice_Site_p.G45_splice|C8orf22_ENST00000399653.4_Splice_Site_p.G45_splice|C8orf22_ENST00000517663.1_Splice_Site_p.G45_splice	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	45										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ACCACAGCAAGGTACTTAGTT	0.299000													7	44					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21818633	21818633	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:21818633C>T	ENST00000328843.6	+	58	9446	c.9415C>T	c.(9415-9417)Cat>Tat	p.H3139Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.H3132Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3139	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTGAGAAATCATGATGCCGA	0.488000									Kartagener syndrome				9	35					0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3687900	3687900	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:3687900C>T	ENST00000403096.3	+	4	720	c.229C>T	c.(229-231)Cct>Tct	p.P77S	COLEC11_ENST00000349077.4_Missense_Mutation_p.P103S|COLEC11_ENST00000236693.7_Missense_Mutation_p.P100S|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.P117S|COLEC11_ENST00000404205.1_Missense_Mutation_p.P29S|COLEC11_ENST00000382062.2_Missense_Mutation_p.P79S|COLEC11_ENST00000402922.1_Missense_Mutation_p.P53S|COLEC11_ENST00000402794.1_Missense_Mutation_p.P53S	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	103	Collagen-like.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CATAGGACCCCCTGGTCCTAA	0.383000													3	19					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830773	13830773	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:13830773C>T	ENST00000265104.4	-	36	6098	c.5994G>A	c.(5992-5994)ggG>ggA	p.G1998G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1998	AAA 1 (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)					CGACGTATTTCCCGAGGCATC	0.488000									Kartagener syndrome				23	62					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113723471	113723471	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:113723471G>A	ENST00000545063.1	-	11	2138	c.1484C>T	c.(1483-1485)tCg>tTg	p.S495L	KIAA1407_ENST00000295878.3_Intron			Q8NCU4	K1407_HUMAN	KIAA1407	0										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GGCCACCACCGAGACAGCCCT	0.478000													15	57					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46657439	46657439	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:46657439C>T	ENST00000544460.1	+	1	1828	c.1574C>T	c.(1573-1575)tCc>tTc	p.S525F	TDRD6_ENST00000316081.6_Missense_Mutation_p.S525F	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	525					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGTTTCTATTCCTCTGCCAGT	0.413000													8	124					0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12863679	12863679	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:12863679G>A	ENST00000155926.4	+	2	1982		c.e2+1		TRIB2_ENST00000405331.3_Splice_Site|TRIB2_ENST00000381465.2_Splice_Site	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2						negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACGAAGAGAGGTAGGTCTCAT	0.532000													4	47					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16458685	16458685	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:16458685C>T	ENST00000358432.5	-	13	2353	c.2199G>A	c.(2197-2199)atG>atA	p.M733I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	733	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GCACATAGTTCATGTTGGCCA	0.622000													16	113					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113860193	113860193	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:113860193G>A	ENST00000504030.2	+	9	1590	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	HTR3A_ENST00000355556.2_Missense_Mutation_p.G420E|HTR3A_ENST00000299961.5_Missense_Mutation_p.G367E|HTR3A_ENST00000506841.2_Missense_Mutation_p.G414E|HTR3A_ENST00000375498.2_Missense_Mutation_p.G388E|HTR3A_ENST00000535865.1_Missense_Mutation_p.G126E			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	382					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCAGCCATGGGAAACCACTGC	0.587000													18	77					0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459447	148459447	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:148459447C>T	ENST00000542281.1	+	4	1071	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	AGTR1_ENST00000349243.3_Silent_p.L209L|AGTR1_ENST00000402260.1_Silent_p.L209L|AGTR1_ENST00000418473.2_Silent_p.L209L|AGTR1_ENST00000475347.1_Silent_p.L209L|AGTR1_ENST00000474935.1_Silent_p.L209L|AGTR1_ENST00000497524.1_Silent_p.L209L|AGTR1_ENST00000404754.2_Silent_p.L209L|AGTR1_ENST00000461609.1_Silent_p.L209L	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	209					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GTTTCCTTTTCTGATCATTCT	0.358000													9	31					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220161714	220161714	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:220161714G>A	ENST00000295718.2	-	15	2469	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F	PTPRN_ENST00000409251.3_Silent_p.F714F|PTPRN_ENST00000423636.2_Silent_p.F653F	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	743	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CACAGGGCAGGAAGTCAGGAT	0.637000													10	123					0	0	1	0	0
TRBV20-1	28567	broad.mit.edu	37	7	142334690	142334690	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142334690C>T	ENST00000390394.3	+	0	190																											GATCGAGTGCCGTTCCCTGGA	0.532000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	95					0	0	1	0	0
POU3F2	5454	broad.mit.edu	37	6	99283803	99283803	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:99283803G>A	ENST00000328345.5	+	1	1224	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	352					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CGCAGCGCAAGGGCGCAAGCG	0.592000													6	109					0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32587124	32587124	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:32587124A>C	ENST00000400236.3	-	5	1707	c.502T>G	c.(502-504)Tgc>Ggc	p.C168G	RFPL2_ENST00000400237.1_Missense_Mutation_p.C258G|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Missense_Mutation_p.C197G|RFPL2_ENST00000248983.4_Missense_Mutation_p.C168G	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	258	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GATTCTCTGCAGACTCCCAGG	0.592000													5	87					0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41063350	41063350	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:41063350C>T	ENST00000253801.2	+	5	1060	c.981C>T	c.(979-981)ttC>ttT	p.F327F	G6PC_ENST00000592383.1_3'UTR|G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	327			Missing (in GSD1A).		gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCTTGTCCTTCTGCAAGAGTG	0.577000													16	153					0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118383497	118383497	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:118383497G>A	ENST00000537242.1	+	0	117				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CTTTTCTGATGAAAAACCATG	0.473000													11	73					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869721	4869721	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4869721C>T	ENST00000322101.2	-	1	793	c.718G>A	c.(718-720)Gat>Aat	p.D240N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCCAGCGATCCTCTCTGGAC	0.517000													11	56					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104115787	104115787	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:104115787G>A	ENST00000361355.4	+	5	1034	c.418G>A	c.(418-420)Gac>Aac	p.D140N	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	140					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGGAAGTAGGGACTTTCCAGC	0.403000													93	614					0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210194391	210194391	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:210194391C>T	ENST00000537238.1	+	5	511	c.120C>T	c.(118-120)tcC>tcT	p.S40S	SYT14_ENST00000534859.1_Silent_p.S78S|SYT14_ENST00000367015.1_Silent_p.S40S|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Silent_p.S78S|SYT14_ENST00000422431.1_Silent_p.S123S|SYT14_ENST00000472886.1_Silent_p.S78S|SYT14_ENST00000367019.1_Silent_p.S78S	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	78						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TAGATAATTCCTACATGGACA	0.408000													10	53					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84520255	84520255	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:84520255G>A	ENST00000360700.4	+	6	1796	c.910G>A	c.(910-912)Gat>Aat	p.D304N	ZNF711_ENST00000542798.1_Missense_Mutation_p.D100N|ZNF711_ENST00000276123.3_Missense_Mutation_p.D304N|ZNF711_ENST00000373165.3_Missense_Mutation_p.D304N|ZNF711_ENST00000395402.1_Missense_Mutation_p.D282N			Q9Y462	ZN711_HUMAN	zinc finger protein 711	304					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AGAAGAAGATGATATCAGTAA	0.403000													9	38					0	0	1	0	0
TBC1D13	54662	broad.mit.edu	37	9	131553020	131553020	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:131553020C>T	ENST00000372648.5	+	3	254	c.104C>T	c.(103-105)cCc>cTc	p.P35L	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Missense_Mutation_p.P35L|TBC1D13_ENST00000539497.1_Intron	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	35	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						ACAGGCATCCCCTGTGAGGGC	0.657000													11	111					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234113004	234113004	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:234113004C>T	ENST00000359570.5	+	28	3172	c.3172C>T	c.(3172-3174)Cgc>Tgc	p.1058_1058insC	INPP5D_ENST00000455936.2_Missense_Mutation_p.822_822insC|INPP5D_ENST00000450745.1_Missense_Mutation_p.822_822insC			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGAGGCTGATCGCGGCGAGGG	0.711000													6	39					0	0	1	0	0
SPATA19	219938	broad.mit.edu	37	11	133712407	133712407	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:133712407C>T	ENST00000299140.3	-	5	464	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	SPATA19_ENST00000532889.1_Missense_Mutation_p.R137Q	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	137					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		TATTCGATCTCGCATGATGTC	0.498000													17	70					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135496364	135496364	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:135496364G>A	ENST00000394143.1	+	25	9374	c.9083G>A	c.(9082-9084)gGa>gAa	p.G3028E	GPR112_ENST00000287534.4_Missense_Mutation_p.G2747E|GPR112_ENST00000394141.1_Missense_Mutation_p.G2823E|GPR112_ENST00000412101.1_Missense_Mutation_p.G2823E|GPR112_ENST00000370652.1_Missense_Mutation_p.G3028E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3028					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)					AAACAGGAGGGACTAAAGAAA	0.388000													30	86					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	440748	440748	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:440748G>A	ENST00000256509.2	+	26	3944	c.3302G>A	c.(3301-3303)gGa>gAa	p.G1101E	CHL1_ENST00000397491.2_Missense_Mutation_p.G1085E	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1085					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGGTTTATTGGACTGATGTGT	0.368000													17	84					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36872037	36872037	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:36872037C>T	ENST00000325718.7	+	9	1083	c.992C>T	c.(991-993)tCc>tTc	p.S331F	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	331	Poly-Ser.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					tcctcttcttcctcctcctct	0.562000			T	MLL	AL								3	14					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7526066	7526066	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:7526066G>A	ENST00000313599.3	-	14	3637	c.3580C>T	c.(3580-3582)Ctc>Ttc	p.L1194F	CD163L1_ENST00000396630.1_Missense_Mutation_p.L1194F|CD163L1_ENST00000416109.2_Missense_Mutation_p.L1204F			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1194	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAAGGGGCGAGGCTGACAACT	0.557000													6	96					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71974164	71974164	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:71974164G>A	ENST00000266674.5	+	16	1824	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N	LGR5_ENST00000540815.2_Missense_Mutation_p.D481N|LGR5_ENST00000536515.1_Missense_Mutation_p.D433N			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	505						integral to plasma membrane	protein-hormone receptor activity	p.D505N(1)	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						CAGTATGGACGACCTTCATAA	0.408000													20	190					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97851849	97851849	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:97851849C>T	ENST00000354565.2	+	1	308	c.308C>T	c.(307-309)tCg>tTg	p.S103L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S103L(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CAGTTTTTTTCGTTTGCAATC	0.393000													31	151					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347783	140347783	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140347783A>T	ENST00000289269.5	+	1	1964	c.1432A>T	c.(1432-1434)Ata>Tta	p.I478L	PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		478	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCATCTACATACAGGAGAA	0.498000													20	134					0	0	1	0	0
DFFB	1677	broad.mit.edu	37	1	3786216	3786216	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:3786216C>T	ENST00000378209.3	+	5	881	c.558C>T	c.(556-558)ttC>ttT	p.F186F	DFFB_ENST00000338895.3_Silent_p.F186F	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	186					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGGAGGAATTCCTGCGGGTCC	0.647000													3	36					0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113588049	113588049	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:113588049G>A	ENST00000263341.2	-	7	909	c.699C>T	c.(697-699)ttC>ttT	p.F233F	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	233					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	ACCAGTTGGGGAACTGGGCAG	0.448000													15	100					0	0	1	0	0
KIR2DL4	3805	broad.mit.edu	37	19	55316316	55316316	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55316316C>T	ENST00000396284.2	+	3	139	c.139C>T	c.(139-141)Ctt>Ttt	p.L47F	KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.L49F|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.L49F|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.L49F|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000346587.4_Intron					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4											NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ACACGTGACTCTTCGGTGTCA	0.547000													9	67					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155157995	155157995	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:155157995C>T	ENST00000392825.3	+	9	1616	c.1049C>T	c.(1048-1050)cCa>cTa	p.P350L	GALNT13_ENST00000409237.1_Missense_Mutation_p.P350L|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	350						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAGGCAACTCCATACACTTTT	0.413000													19	99					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14758679	14758679	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:14758679G>A	ENST00000284268.6	-	3	672	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	114					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCAGTTTATTGATAATGTAGT	0.418000													5	59					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10625561	10625561	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:10625561G>A	ENST00000254958.5	-	18	2809	c.2294C>T	c.(2293-2295)tCc>tTc	p.S765F	JAG1_ENST00000423891.2_Missense_Mutation_p.S606F	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	765	EGF-like 14.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCACGTAAAGGACTCGCCGTT	0.592000									Alagille Syndrome				39	224					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123514850	123514850	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:123514850C>T	ENST00000223026.4	+	4	1628	c.990C>T	c.(988-990)gcC>gcT	p.A330A	HYAL4_ENST00000476325.1_Silent_p.A330A	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	330					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAAGTGCTGCCTTGGGAGCTG	0.393000													9	40					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43447229	43447229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:43447229C>T	ENST00000395891.1	+	8	1305	c.700C>T	c.(700-702)Cag>Tag	p.Q234*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.Q234*|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	234	C2.				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						GATTTCCATTCAGCCTGGGAA	0.458000													7	28					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805148	54805148	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:54805148A>C	ENST00000306858.7	+	5	1495	c.1379A>C	c.(1378-1380)aAt>aCt	p.N460T		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	460										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GCAGACAGGAATTCAAATGTT	0.453000													21	66					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50214261	50214261	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:50214261G>A	ENST00000002829.3	+	7	1094	c.610G>A	c.(610-612)Gat>Aat	p.D204N	SEMA3F_ENST00000413852.1_Missense_Mutation_p.D105N|SEMA3F_ENST00000434342.1_Missense_Mutation_p.D173N	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	204	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GTGTCCGTACGATCCCAAGCT	0.607000													4	68					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43043175	43043175	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:43043175G>A	ENST00000316099.3	+	5	610	c.521G>A	c.(520-522)gGc>gAc	p.G174D	HNF4A_ENST00000415691.1_Missense_Mutation_p.G174D|HNF4A_ENST00000457232.1_Missense_Mutation_p.G152D|HNF4A_ENST00000443598.2_Missense_Mutation_p.G174D	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	174					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGGATCAACGGCGACATTCGG	0.577000													5	46					0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87151753	87151753	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:87151753G>A	ENST00000285393.3	+	3	512	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	124					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	p.E124K(1)|p.E124*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ATCTGTGAAAGAAATTCTGGG	0.428000													5	90					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53304079	53304079	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:53304079G>A	ENST00000438150.2	-	2	1753	c.860C>T	c.(859-861)tCa>tTa	p.S287L	ZNF28_ENST00000360272.4_Missense_Mutation_p.S287L|ZNF28_ENST00000457749.2_Missense_Mutation_p.S340L|ZNF28_ENST00000414252.2_Missense_Mutation_p.S287L			P17035	ZNF28_HUMAN	zinc finger protein 28	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGCTAGGTATGAATTACATGT	0.368000													9	65					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47303981	47303981	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:47303981C>T	ENST00000342922.4	+	9	1876	c.1519C>T	c.(1519-1521)Cag>Tag	p.Q507*	MADD_ENST00000489415.1_3'UTR|MADD_ENST00000311027.5_Nonsense_Mutation_p.Q507*|MADD_ENST00000406482.1_Nonsense_Mutation_p.Q507*|MADD_ENST00000395336.3_Nonsense_Mutation_p.Q507*|MADD_ENST00000395344.3_Nonsense_Mutation_p.Q507*|MADD_ENST00000407859.3_Nonsense_Mutation_p.Q507*|MADD_ENST00000349238.3_Nonsense_Mutation_p.Q507*|MADD_ENST00000402192.2_Nonsense_Mutation_p.Q507*|MADD_ENST00000402799.1_Nonsense_Mutation_p.Q507*	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	507	dDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GCAGGGATTTCAGATGCACAC	0.552000													6	84					0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297845	139297845	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:139297845C>T	ENST00000406164.1	-	4	614	c.51G>A	c.(49-51)ggG>ggA	p.G17G	NMNAT3_ENST00000339837.5_Silent_p.G17G|NMNAT3_ENST00000296202.7_Silent_p.G54G|NMNAT3_ENST00000413939.2_Intron|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000512391.1_Silent_p.G54G|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000511444.1_Silent_p.G17G|NMNAT3_ENST00000507242.1_5'UTR|RP11-319G6.1_ENST00000381790.3_RNA			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	54					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GGTCTTTCTTCCCATAGGTGT	0.567000													6	29					0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61318916	61318916	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:61318916G>A	ENST00000263846.4	-	3	482	c.155C>T	c.(154-156)tCc>tTc	p.S52F	SYT7_ENST00000535826.1_Missense_Mutation_p.S52F|SYT7_ENST00000539008.1_Missense_Mutation_p.S52F|SYT7_ENST00000540677.1_Missense_Mutation_p.S52F|SYT7_ENST00000542836.1_Missense_Mutation_p.S52F|SYT7_ENST00000542670.1_Missense_Mutation_p.S52F	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	52						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGTCTCCAAGGAATTCTTGTA	0.592000													10	74					0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121687675	121687675	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:121687675G>A	ENST00000324774.5	-	13	2066	c.1238C>T	c.(1237-1239)cCc>cTc	p.P413L	CAMKK2_ENST00000404169.3_Missense_Mutation_p.P413L|CAMKK2_ENST00000538733.1_Missense_Mutation_p.P413L|CAMKK2_ENST00000347034.2_Missense_Mutation_p.P413L|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P413L|CAMKK2_ENST00000446440.2_Missense_Mutation_p.P413L|CAMKK2_ENST00000392474.2_Missense_Mutation_p.P413L|CAMKK2_ENST00000545538.1_Missense_Mutation_p.P200L|CAMKK2_ENST00000412367.2_Missense_Mutation_p.P413L|CAMKK2_ENST00000337174.3_Missense_Mutation_p.P413L|CAMKK2_ENST00000392473.2_Missense_Mutation_p.P413L	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	413	Protein kinase.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCTATGTCGGGCCTGGGGAT	0.597000													13	80					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43702221	43702221	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43702221C>T	ENST00000405312.3	-	3	874	c.637G>A	c.(637-639)Gga>Aga	p.G213R	PSG4_ENST00000244295.9_Missense_Mutation_p.G213R|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	213	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TCATAGGGTCCTGCAATATAC	0.507000													39	194					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720598	140720598	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140720598C>T	ENST00000394576.2	+	1	2060	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	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)			CCCAACGATTCGGACCTCACT	0.682000													15	150					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159804975	159804975	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:159804975G>A	ENST00000289707.5	+	5	932	c.781_splice	c.e5-1	p.G261_splice	SLAMF8_ENST00000368104.4_Splice_Site_p.G152_splice|C1orf204_ENST00000368102.1_3'UTR|SLAMF8_ENST00000471286.1_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	261						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CCTTACCAGGGAAAAAGAAAA	0.498000													8	39					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112174370	112174370	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:112174370T>C	ENST00000457016.1	+	16	3459	c.3079T>C	c.(3079-3081)Tat>Cat	p.Y1027H	APC_ENST00000508376.2_Missense_Mutation_p.Y1027H|APC_ENST00000257430.4_Missense_Mutation_p.Y1027H|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1027	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		Y -> C (in colorectal tumor).		canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.Y1027fs*2(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACCAATAAATTATAGTCTTAA	0.368000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			9	55					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108182039	108182039	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:108182039C>T	ENST00000273353.3	-	17	1899	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	615	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCACTGTTTCATTAAGGAGG	0.383000													32	155					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57103356	57103356	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:57103356G>A	ENST00000439986.4	-	11	1042	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	CCBE1_ENST00000398179.2_Silent_p.F64F	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	335					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GCAGGAAGTCGAAAGAACCAG	0.542000													7	68					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176905401	176905401	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:176905401C>T	ENST00000367654.2	-	15	2520		c.e15+1		ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Splice_Site|ASTN1_ENST00000361833.2_Splice_Site|ASTN1_ENST00000367657.3_Splice_Site			O14525	ASTN1_HUMAN	astrotactin 1						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						GCAGTGCTCACCCTGAGAGAT	0.537000													8	46					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838922	100838922	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:100838922G>A	ENST00000369208.3	-	12	2398	c.1616C>T	c.(1615-1617)cCt>cTt	p.P539L	SIM1_ENST00000262901.4_Missense_Mutation_p.P539L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	539	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGCCGACCCAGGGTCTGGAGA	0.433000													7	54					0	0	1	0	0
RPAP3	79657	broad.mit.edu	37	12	48091493	48091493	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:48091493G>A	ENST00000005386.3	-	4	419	c.304C>T	c.(304-306)Ctt>Ttt	p.L102F	RPAP3_ENST00000380650.4_Missense_Mutation_p.L102F|RPAP3_ENST00000432584.3_5'UTR	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	102							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AGCTCATCAAGGATACGGTCC	0.353000													4	65					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209659	140209659	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140209659G>A	ENST00000529310.1	+	1	2097	c.1983G>A	c.(1981-1983)gcG>gcA	p.A661A	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGACAGCGACGGCCACGG	0.706000													7	89					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016578	38016578	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:38016578G>A	ENST00000261439.4	+	3	1221	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	TBC1D1_ENST00000508802.1_Missense_Mutation_p.R289Q	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	289	PID.					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						GAGGAAAATCGAACTATGCTC	0.483000													8	30					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081946	152081946	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152081946C>T	ENST00000368804.1	-	2	3746	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1249					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGCCGGAACTGTTCATTCT	0.498000													9	76					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79689945	79689945	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:79689945A>C	ENST00000261205.4	+	7	1228	c.571A>C	c.(571-573)Aag>Cag	p.K191Q	SYT1_ENST00000393240.3_Missense_Mutation_p.K191Q|SYT1_ENST00000552744.1_Missense_Mutation_p.K191Q|SYT1_ENST00000457153.2_Missense_Mutation_p.K188Q	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	191	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACCTGATAAGAAGAAGAAATT	0.418000													6	30					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32724999	32724999	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:32724999G>A	ENST00000421745.2	+	46	8988	c.8854G>A	c.(8854-8856)Gat>Aat	p.D2952N		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2952					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAATACAACAGATAGTGTTTC	0.408000													9	87					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65475998	65475998	+	Silent	SNP	C	C	T	rs143166067	by1000genomes	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:65475998C>T	ENST00000519389.1	+	17	3063	c.2884C>T	c.(2884-2886)Ctg>Ttg	p.L962L	HEPH_ENST00000441993.2_Silent_p.L911L|HEPH_ENST00000343002.2_Silent_p.L908L|HEPH_ENST00000419594.1_Silent_p.L719L|HEPH_ENST00000374727.3_Silent_p.L911L|HEPH_ENST00000336279.5_Silent_p.L641L			Q9BQS7	HEPH_HUMAN	hephaestin	908	Plastocyanin-like 6.				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						AAAGGGCATCCTGGAGCCCCA	0.483000													13	33					0	0	1	0	0
RP9	6100	broad.mit.edu	37	7	33136927	33136927	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:33136927G>A	ENST00000297157.3	-	4	378	c.361C>T	c.(361-363)Cct>Tct	p.P121S		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	121	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			ATAAAGAAAGGGCATTCTTTG	0.383000													6	40					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56358051	56358051	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:56358051G>A	ENST00000340482.3	-	1	245	c.69C>T	c.(67-69)ctC>ctT	p.L23L	MPO_ENST00000225275.3_Silent_p.L23L			P05164	PERM_HUMAN	myeloperoxidase	23					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TCTCTGCAGTGAGACCCCCAG	0.587000													7	56					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62854927	62854927	+	Silent	SNP	C	C	T	rs141234830		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:62854927C>T	ENST00000584306.1	-	12	5309	c.4779G>A	c.(4777-4779)acG>acA	p.T1593T	LRRC37A3_ENST00000319651.5_Silent_p.T1593T|LRRC37A3_ENST00000334962.5_Silent_p.T570T|LRRC37A3_ENST00000339474.5_Silent_p.T711T|LRRC37A3_ENST00000400877.3_Silent_p.T631T	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1593						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TAATCAAAATCGTTAGTATTC	0.353000													4	39					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111361	55111361	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55111361G>A	ENST00000314721.2	+	1	735	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTACAGTCAGGAAGAGAGGCA	0.428000													5	70					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156907966	156907966	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156907966C>T	ENST00000257527.4	-	23	2826	c.2748G>A	c.(2746-2748)tcG>tcA	p.S916S	ADAM19_ENST00000430702.2_Intron|ADAM19_ENST00000394020.1_Silent_p.S918S	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	0					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTAGATTTTCGAGCTAATCA	0.517000													8	39					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280897	105280897	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:105280897G>A	ENST00000327674.4	-	1	488	c.153C>T	c.(151-153)ttC>ttT	p.F51F	SERPINA7_ENST00000372563.1_Silent_p.F51F			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	51					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.F51L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGTACAGATTGAATGCAAAGT	0.468000													23	95					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123540270	123540270	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:123540270G>T	ENST00000422452.2	-	26	5115	c.5052C>A	c.(5050-5052)gaC>gaA	p.D1684E	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.D1677E	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GCTTCTCCAGGTCACTGTGGA	0.468000													34	76					1.08052e-11	1.09382e-11	1	1	0
MYH1	4619	broad.mit.edu	37	17	10408334	10408334	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10408334C>T	ENST00000226207.5	-	22	2578	c.2484G>A	c.(2482-2484)gtG>gtA	p.V828V	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	828						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCCAGTGCTTCACATTCATGA	0.423000													8	46					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175538	207175538	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:207175538G>A	ENST00000374423.3	+	5	6672	c.6286G>A	c.(6286-6288)Gat>Aat	p.D2096N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2096							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGGAGATAATGATGCTGATGG	0.443000													4	74					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6815988	6815988	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6815988G>A	ENST00000332601.3	-	1	1140	c.952C>T	c.(952-954)Cct>Tct	p.P318S		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGGGGTCAGGATCCTGGTGC	0.443000													11	63					0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97028545	97028545	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:97028545G>A	ENST00000329399.6	-	3	431	c.323C>T	c.(322-324)tCt>tTt	p.S108F	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	108					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CTGGGGTTCAGAGGCTAAATT	0.498000													6	79					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183883995	183883995	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:183883995T>G	ENST00000313143.3	+	8	1093	c.845T>G	c.(844-846)aTg>aGg	p.M282R	DVL3_ENST00000431765.1_Missense_Mutation_p.M282R|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	282	PDZ.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	p.M282T(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGCTCTATCATGAAGGGTGGG	0.512000													19	80					0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964653	119964653	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:119964653G>A	ENST00000543831.1	+	4	778	c.529G>A	c.(529-531)Gat>Aat	p.D177N	HSD3B2_ENST00000369416.3_Missense_Mutation_p.D177N	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	177					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	AAAAAATGGTGATACCTTGTA	0.478000													9	84					0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123753850	123753850	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123753850G>A	ENST00000375026.2	-	4	889	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	225						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						CCAAATCACAGAGCCCAGGTT	0.428000													11	75					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20329728	20329728	+	Silent	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20329728C>A	ENST00000302555.5	-	7	1181	c.1032G>T	c.(1030-1032)ggG>ggT	p.G344G	GP2_ENST00000381360.5_Silent_p.G200G|GP2_ENST00000381362.4_Silent_p.G347G|GP2_ENST00000341642.5_Silent_p.G197G|GP2_ENST00000573897.1_5'UTR			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	347	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACTCTCCATTCCCGTCCACAC	0.473000													8	150					0.000442599	0.000444838	1	1	0
CD84	8832	broad.mit.edu	37	1	160535504	160535504	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:160535504G>A	ENST00000368054.3	-	2	113	c.78C>T	c.(76-78)atC>atT	p.I26I	CD84_ENST00000368048.3_Silent_p.I26I|CD84_ENST00000311224.4_Silent_p.I26I|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Intron|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368051.3_Silent_p.I26I	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	26					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCACTGTGAAGATTTCTGAGT	0.418000													4	16					0	0	1	0	0
RIPK1	8737	broad.mit.edu	37	6	3085639	3085639	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:3085639C>T	ENST00000259808.4	+	6	1133	c.835C>T	c.(835-837)Cct>Tct	p.P279S	RIPK1_ENST00000541791.1_Missense_Mutation_p.P233S|RIPK1_ENST00000380409.2_Missense_Mutation_p.P279S|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	279	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCCGACATTTCCTGGTAAGAG	0.458000													6	31					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133051	119133051	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:119133051C>T	ENST00000264245.4	+	12	2807	c.2275C>T	c.(2275-2277)Cct>Tct	p.P759S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	759	Pro-rich.				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						GGAAATAGTTCCTTTTGAGAA	0.602000													22	75					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201185664	201185664	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:201185664G>A	ENST00000335211.4	+	16	9508	c.9378G>A	c.(9376-9378)agG>agA	p.R3126R	IGFN1_ENST00000295591.8_Silent_p.R286R	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCCCCCAAGGGACAATGGGG	0.662000													3	18					0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120965527	120965527	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:120965527T>A	ENST00000361301.2	+	1	107	c.58T>A	c.(58-60)Tcc>Acc	p.S20T		NM_016087.2	NP_057171.2	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	0					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					TCAAAAGACCTCCCTATGGTG	0.453000													14	60					0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31691205	31691205	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31691205C>T	ENST00000375809.3	+	1	56	c.45C>T	c.(43-45)gcC>gcT	p.A15A	C6orf25_ENST00000375810.4_Silent_p.A15A|C6orf25_ENST00000375805.2_Silent_p.A15A|C6orf25_ENST00000480039.1_Silent_p.A15A	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	15						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TCTCGAGGGCCCAAGGGAACC	0.612000													6	23					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39696922	39696922	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:39696922C>T	ENST00000395670.3	-	35	4998	c.4579G>A	c.(4579-4581)Gaa>Aaa	p.E1527K	KIF21A_ENST00000361418.5_Missense_Mutation_p.E1526K|KIF21A_ENST00000361961.3_Missense_Mutation_p.E1513K|KIF21A_ENST00000544797.2_Missense_Mutation_p.E1489K|KIF21A_ENST00000541463.2_Missense_Mutation_p.E1473K			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1526					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AGAGCTCCTTCTGTAACATCA	0.383000													9	42					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307541	46307541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:46307541C>T	ENST00000221538.3	-	3	1764	c.1622G>A	c.(1621-1623)tGg>tAg	p.W541*	RSPH6A_ENST00000600188.1_Nonsense_Mutation_p.W277*|RSPH6A_ENST00000597055.1_Nonsense_Mutation_p.W541*	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	541	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTGATGCACCCAGTTGGCCAT	0.647000													7	47					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122755703	122755703	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:122755703C>T	ENST00000194130.2	-	15	1696	c.1657G>A	c.(1657-1659)Gct>Act	p.A553T	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	553						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CCAAGTCCAGCTTTAACCTTG	0.423000													17	42					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780767	94780767	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94780767G>A	ENST00000341584.3	-	2	365	c.219C>T	c.(217-219)gcC>gcT	p.A73A		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	73					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCATAGCTAAGGCCATGGAGA	0.547000													4	52					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923066	43923066	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:43923066C>T	ENST00000329196.5	+	1	811	c.794C>T	c.(793-795)tCg>tTg	p.S265L	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	265						integral to membrane	aspartic-type endopeptidase activity										CTGTCCTGCTCGCTCATGCTG	0.562000													12	101					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170858236	170858236	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:170858236C>T	ENST00000436636.2	-	13	1628	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E	TNIK_ENST00000538048.1_Silent_p.E428E|TNIK_ENST00000369326.5_Silent_p.E428E|TNIK_ENST00000341852.6_Silent_p.E428E|TNIK_ENST00000488470.1_Silent_p.E428E|TNIK_ENST00000284483.8_Silent_p.E428E|TNIK_ENST00000475336.1_Silent_p.E428E|TNIK_ENST00000470834.1_Silent_p.E428E|TNIK_ENST00000460047.1_Silent_p.E428E|TNIK_ENST00000357327.5_Silent_p.E428E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	428	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCATCTGCTCCTCATAGTGCC	0.647000													31	222					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10355560	10355560	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10355560C>T	ENST00000255381.2	-	27	3546	c.3436G>A	c.(3436-3438)Gag>Aag	p.E1146K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1146					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						TCCTCCAGCTCCCGGGAGAGG	0.597000													12	102					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135720723	135720723	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:135720723C>T	ENST00000264977.3	+	2	1000	c.383C>T	c.(382-384)tCc>tTc	p.S128F	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	128					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAAGAATTTTCCTTTGAAAAA	0.378000													6	50					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128515	152128515	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152128515G>A	ENST00000316073.3	-	3	1124	c.1060C>T	c.(1060-1062)Cat>Tat	p.H354Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	354	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						TGATCATAATGATAACACTGG	0.488000													144	623					0	0	1	0	0
TMEM169	92691	broad.mit.edu	37	2	216964685	216964685	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:216964685C>T	ENST00000454545.1	+	4	640	c.314C>T	c.(313-315)aCt>aTt	p.T105I	TMEM169_ENST00000406027.2_Missense_Mutation_p.T105I|TMEM169_ENST00000295658.4_Missense_Mutation_p.T105I|TMEM169_ENST00000437356.2_Missense_Mutation_p.T105I	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	105						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCACCTTAACTGGGACCATC	0.498000													15	134					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44284563	44284563	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:44284563C>T	ENST00000315087.7	-	2	856	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	ST8SIA5_ENST00000536490.1_Intron|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E102K|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	66					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TCCAATATTTCGTGCCTCAGC	0.522000													41	181					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120021885	120021885	+	Silent	SNP	G	G	A	rs150476989	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:120021885G>A	ENST00000379551.2	+	3	684	c.327G>A	c.(325-327)gtG>gtA	p.V109V	PRR16_ENST00000446965.1_Silent_p.V62V|PRR16_ENST00000407149.2_Silent_p.V132V|PRR16_ENST00000505123.1_Silent_p.V62V	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	132	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TGACACCTGTGAAGTGTGAAG	0.512000													7	63					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106552850	106552850	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:106552850C>T	ENST00000369096.4	+	5	1049	c.815C>T	c.(814-816)tCa>tTa	p.S272L	PRDM1_ENST00000369091.2_Missense_Mutation_p.S236L|PRDM1_ENST00000369089.3_Missense_Mutation_p.S138L	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	272					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TCTAACATTTCACCCCTCACA	0.512000			"""D, N, Mis, F, S"""		DLBCL								57	333					0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104230724	104230724	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:104230724A>T	ENST00000238936.4	+	5	791	c.554A>T	c.(553-555)aAc>aTc	p.N185I	TMEM180_ENST00000366277.2_Intron|TMEM180_ENST00000369931.3_Intron	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	185						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCCTTTTGGAACAAGGAGGAT	0.617000													15	124					0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242794829	242794829	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:242794829G>A	ENST00000334409.5	-	2	449	c.380C>T	c.(379-381)tCc>tTc	p.S127F		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	127	Ig-like V-type.				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		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;0.0219)		GGGGGCCAGGGAGATGGCCCC	0.682000													6	43					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105819914	105819914	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:105819914C>T	ENST00000353479.5	-	14	1394	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	COL17A1_ENST00000393211.3_Silent_p.G368G|COL17A1_ENST00000369733.3_Silent_p.G368G	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	368	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TAAAGACCTTCCCGCTGTCCT	0.507000													17	53					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724482	7724482	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:7724482C>T	ENST00000303635.7	+	9	2082	c.1875C>T	c.(1873-1875)ctC>ctT	p.L625L	CAMTA1_ENST00000439411.2_Silent_p.L625L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	625					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)		GCAAACCCCTCCCCGTCGAGC	0.637000			T	WWTR1	epitheliod hemangioendothelioma								65	242					0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49398326	49398326	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49398326G>A	ENST00000221399.3	-	6	587	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	148					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GGGAGAGACGGAACCATTCTC	0.527000													10	39					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15614285	15614285	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:15614285G>A	ENST00000378076.3	-	25	2915	c.2562C>T	c.(2560-2562)ctC>ctT	p.L854L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	854					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGAAAATATAGAGAAGAAATT	0.453000													12	71					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546159	11546159	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:11546159C>T	ENST00000389362.4	-	3	888	c.853G>A	c.(853-855)Gga>Aga	p.G285R	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGTGGTCCTTGTGGCTTT	0.617000													25	332					0	0	1	0	0
MEX3A	92312	broad.mit.edu	37	1	156047354	156047354	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:156047354C>T	ENST00000532414.2	-	2	573	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	192	KH 1.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GAGATGATTTCCCGCCGGGCT	0.637000													3	18					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34401548	34401548	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34401548G>A	ENST00000373381.4	-	4	701	c.525C>T	c.(523-525)ccC>ccT	p.P175P		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	135	Sushi 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGTGTGGCTGGGGAGAACTG	0.597000													14	69					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239925	5239925	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:5239925G>A	ENST00000274181.7	+	16	2548	c.2410G>A	c.(2410-2412)Gac>Aac	p.D804N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	804	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTGGACCGTGGACTGGCCCGG	0.522000													8	80					0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18602573	18602573	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:18602573G>A	ENST00000546162.2	+	0	1147					NR_003569.1																						TCCTCCTGGGGACCCTCAGCC	0.592000													10	48					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623647	100623647	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:100623647C>T	ENST00000317233.4	-	5	685	c.450G>A	c.(448-450)aaG>aaA	p.K150K	AFF3_ENST00000409579.1_Silent_p.K175K|AFF3_ENST00000409236.1_Silent_p.K150K|AFF3_ENST00000356421.2_Silent_p.K175K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	150					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGTGCCCAGCCTTCTGCCAGC	0.537000													4	62					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62197148	62197148	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:62197148G>A	ENST00000467148.1	-	8	3096	c.3027C>T	c.(3025-3027)tcC>tcT	p.S1009S	HELZ2_ENST00000427522.2_Silent_p.S440S	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TGATGTCACGGGATGCTGGGC	0.682000													5	27					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27456009	27456009	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:27456009C>T	ENST00000316403.10	-	8	1713	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	CLU_ENST00000523500.1_Silent_p.E436E|CLU_ENST00000546343.1_Silent_p.E447E|CLU_ENST00000560366.1_Silent_p.E488E|CLU_ENST00000405140.3_Silent_p.E436E			P10909	CLUS_HUMAN	clusterin	436					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GCAGCGCTTTCTCCGCCACGG	0.552000													9	63					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79225240	79225240	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:79225240G>A	ENST00000288439.5	-	14	2463	c.2118C>T	c.(2116-2118)ccC>ccT	p.P706P	SLC38A10_ENST00000374759.3_Intron	NM_138570.2	NP_612637.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	488					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTGGGGGAGGGGGCTGCCGC	0.716000													3	28					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39552694	39552694	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:39552694C>T	ENST00000287152.7	-	9	1151	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	KIF6_ENST00000373213.4_Missense_Mutation_p.E192K|KIF6_ENST00000373216.3_Missense_Mutation_p.E353K|KIF6_ENST00000373215.3_Missense_Mutation_p.E353K|KIF6_ENST00000538893.1_Missense_Mutation_p.E353K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	353					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTAATTTCTTCATTAAGAACA	0.313000													14	102					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045900	76045900	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:76045900C>T	ENST00000335749.4	+	3	1326	c.757C>T	c.(757-759)Cca>Tca	p.P253S	TNRC6C_ENST00000588847.1_Missense_Mutation_p.P253S|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P253S|TNRC6C_ENST00000541771.1_Missense_Mutation_p.P253S|TNRC6C_ENST00000301624.4_Missense_Mutation_p.P253S|TNRC6C_ENST00000588061.1_Missense_Mutation_p.P253S	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	253	Gly-rich.|Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGACTGTCCCCAGGTAACCC	0.507000													7	79					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53074095	53074095	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:53074095G>A	ENST00000276480.7	-	14	2117	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	478						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)				CTTGTGACGGGAAATTGAATT	0.423000													16	69					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117035910	117035910	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:117035910C>T	ENST00000371876.1	-	5	3635		c.e5-1		KLHL13_ENST00000539496.1_Splice_Site|KLHL13_ENST00000371882.1_Splice_Site|KLHL13_ENST00000545703.1_Splice_Site|KLHL13_ENST00000371878.1_Splice_Site|KLHL13_ENST00000541812.1_Splice_Site|KLHL13_ENST00000262820.3_Splice_Site|KLHL13_ENST00000540167.1_Splice_Site|KLHL13_ENST00000469946.1_Splice_Site			Q9P2N7	KLH13_HUMAN	kelch-like family member 13						cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCTACTGTGGCTGTTAAAAAA	0.323000													22	29					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242119	18242119	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:18242119G>A	ENST00000377369.2	+	2	187		c.e2-1		SLC39A12_ENST00000377371.3_Splice_Site|SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377374.4_Splice_Site	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12						zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CTTTACCACAGAAATTCCTTT	0.433000													6	30					0	0	1	0	0
APOA1	335	broad.mit.edu	37	11	116706542	116706542	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:116706542C>T	ENST00000236850.4	-	4	1151	c.786G>A	c.(784-786)aaG>aaA	p.K262K	APOA1_ENST00000375320.1_Silent_p.K262K|APOA1_ENST00000375329.2_Silent_p.K240K|APOA1_ENST00000359492.2_Silent_p.K262K|APOA1_ENST00000375323.1_Silent_p.K262K	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	262	10 X approximate tandem repeats.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TGTTGAGCTTCTTAGTGTACT	0.597000													19	71					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890333	55890333	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55890333C>T	ENST00000313472.3	+	1	485	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S162Y(1)|p.S162F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AATGTGGTTTCCATGAGCAGA	0.438000													21	119					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108684707	108684707	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:108684707C>T	ENST00000218006.2	-	7	1865	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	525					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGCACGACTTCCTCTCTGTGA	0.408000													49	155					0	0	1	0	0
TMEM56	148534	broad.mit.edu	37	1	95609539	95609539	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:95609539T>C	ENST00000370203.4	+	2	373	c.82T>C	c.(82-84)Tac>Cac	p.Y28H	RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.Y28H|TMEM56_ENST00000463375.1_3'UTR	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	28						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		CTTTGTAAGTTACTGGTTTTC	0.348000													8	41					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30510802	30510802	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:30510802C>T	ENST00000375938.4	+	8	863	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S	TTLL9_ENST00000535842.1_Missense_Mutation_p.P204S|TTLL9_ENST00000375922.4_Missense_Mutation_p.P131S|TTLL9_ENST00000310998.4_Missense_Mutation_p.P154S|TTLL9_ENST00000375934.4_Missense_Mutation_p.P186S|TTLL9_ENST00000375921.2_Missense_Mutation_p.P131S			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	204	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGATGATATTCCCGTGGAGAA	0.398000													17	62					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115576208	115576208	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:115576208C>T	ENST00000371900.4	+	6	867	c.779C>T	c.(778-780)tCg>tTg	p.S260L		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	260					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	GGAATCAAATCGTCTGGCAAG	0.363000													11	44					0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182025598	182025598	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:182025598G>A	ENST00000339948.3	-	2	1755	c.1548C>T	c.(1546-1548)gcC>gcT	p.A516A		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	516					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						CCAACTCAGAGGCAATGCGGA	0.617000													6	19					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054975	29054975	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29054975G>A	ENST00000377173.2	-	1	115	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CCCTATCTGAGAAGCCAAGTA	0.393000													8	66					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74328096	74328096	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:74328096C>T	ENST00000268059.6	+	8	2390	c.2294C>T	c.(2293-2295)tCc>tTc	p.S765F	PML_ENST00000569965.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000565898.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000268058.3_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_Missense_Mutation_p.S717F|PML_ENST00000359928.4_Intron|PML_ENST00000395132.2_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GACATGTCTTCCGTGGTGGGG	0.607000			T	"""RARA, PAX5"""	"""APL, ALL"""								9	97					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134262	119134262	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:119134262C>T	ENST00000264245.4	+	12	4018	c.3486C>T	c.(3484-3486)ccC>ccT	p.P1162P		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1162					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						CCCAGGACCCCCAGGACCTGG	0.547000													13	44					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5744379	5744379	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:5744379G>A	ENST00000546188.1	-	17	1829	c.1758C>T	c.(1756-1758)ctC>ctT	p.L586L	ANO2_ENST00000327087.8_Silent_p.L585L|ANO2_ENST00000356134.5_Silent_p.L586L			Q9NQ90	ANO2_HUMAN	anoctamin 2	590						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGATGACCACGAGGTTGATGA	0.532000													7	18					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063193	41063193	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:41063193G>A	ENST00000352632.3	+	26	5640	c.5554G>A	c.(5554-5556)Gag>Aag	p.E1852K	SPTBN4_ENST00000598249.1_Missense_Mutation_p.E1852K|SPTBN4_ENST00000392023.1_Missense_Mutation_p.E528K|SPTBN4_ENST00000392025.1_Missense_Mutation_p.E595K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E1852K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E1852K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1852					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACAGATTGAGGAGAAGCGGAG	0.647000													5	67					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48808564	48808564	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:48808564C>T	ENST00000309835.3	+	1	802	c.792C>T	c.(790-792)ccC>ccT	p.P264P	STON1-GTF2A1L_ENST00000394751.3_Silent_p.P264P|STON1_ENST00000406226.1_Silent_p.P264P|STON1-GTF2A1L_ENST00000309827.2_Silent_p.P264P|STON1-GTF2A1L_ENST00000402114.2_Silent_p.P264P|STON1_ENST00000404752.1_Silent_p.P264P|STON1-GTF2A1L_ENST00000394754.1_Silent_p.P264P|STON1-GTF2A1L_ENST00000405008.1_Silent_p.P264P					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTTTGTCCCCCACACACTCT	0.453000													6	49					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45857994	45857994	+	Nonsense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:45857994A>C	ENST00000391945.4	-	17	1736	c.1659T>G	c.(1657-1659)taT>taG	p.Y553*	ERCC2_ENST00000391944.3_Nonsense_Mutation_p.Y475*	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	553	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GTACCTGCTCATACCAGGAGG	0.597000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				17	90					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124386996	124386996	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:124386996G>A	ENST00000303921.2	-	2	2075	c.1425C>T	c.(1423-1425)gcC>gcT	p.A475A		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	475						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCGGGTACAGGCTTTCTCTG	0.443000													7	75					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	32983440	32983440	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:32983440C>T	ENST00000317907.4	+	13	1765	c.1534C>T	c.(1534-1536)Cat>Tat	p.H512Y		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	512							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						CCTCGGAGACCATTCTTGCTA	0.478000													9	110					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115216657	115216657	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:115216657G>A	ENST00000369538.3	-	13	1981	c.1934C>T	c.(1933-1935)gCc>gTc	p.A645V	AMPD1_ENST00000520113.2_Missense_Mutation_p.A649V|AMPD1_ENST00000353928.6_Missense_Mutation_p.A616V	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	616					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	TGGTGACATGGCGATGGGAAT	0.348000													8	65					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44249922	44249922	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:44249922G>A	ENST00000371505.4	-	4	1343	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	407										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACAGGAGTGTGGCGGTGGGCT	0.602000													6	67					0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50943284	50943284	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:50943284C>T	ENST00000216080.5	-	10	1477	c.1309G>A	c.(1309-1311)Ggt>Agt	p.G437S	LMF2_ENST00000380796.3_Intron|LMF2_ENST00000474879.2_Missense_Mutation_p.G462S			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	462						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCGTCCACCAAGCCCAGTC	0.711000													5	20					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130840207	130840207	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:130840207A>T	ENST00000245255.3	+	12	1671	c.1399A>T	c.(1399-1401)Aaa>Taa	p.K467*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	467					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCAAGGTGGAAAAACAGTAAG	0.458000													9	81					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180030262	180030262	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:180030262G>A	ENST00000261937.6	-	30	4100	c.4022C>T	c.(4021-4023)tCg>tTg	p.S1341L		NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	0					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCTTGGCTCCGACAGCTCCCC	0.642000													3	28					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40710585	40710585	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:40710585G>A	ENST00000373198.3	-	31	4510	c.4275C>T	c.(4273-4275)atC>atT	p.I1425I	PTPRT_ENST00000373190.1_Silent_p.I1402I|PTPRT_ENST00000373193.3_Silent_p.I1406I|PTPRT_ENST00000373187.1_Silent_p.I1403I|PTPRT_ENST00000373184.1_Silent_p.I1413I|PTPRT_ENST00000356100.2_Silent_p.I1412I|PTPRT_ENST00000373201.1_Silent_p.I1393I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1403	Tyrosine-protein phosphatase 2.				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)				ACACGTCAATGATGTTTTGCT	0.502000													13	79					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626125	140626125	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140626125C>T	ENST00000231173.3	+	1	979	c.979C>T	c.(979-981)Ctt>Ttt	p.L327F		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		327	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGGGGGACTTTCTGGAAA	0.413000													12	130					0	0	1	0	0
VTCN1	79679	broad.mit.edu	37	1	117699245	117699245	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:117699245G>A	ENST00000369458.3	-	3	474	c.396C>T	c.(394-396)atC>atT	p.I132I	VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000539893.1_Silent_p.I37I|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000359008.4_Silent_p.I135I	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	132	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TAGAAGTGATGATATAACATT	0.428000													4	74					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762252	130762252	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:130762252G>A	ENST00000392429.1	+	2	3063	c.685G>A	c.(685-687)Gat>Aat	p.D229N	TMEM200A_ENST00000545622.1_Missense_Mutation_p.D229N|TMEM200A_ENST00000296978.3_Missense_Mutation_p.D229N	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	229						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CGTGGAGGAGGATGAACTTAT	0.502000													6	39					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345656	92345656	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:92345656C>T	ENST00000377067.3	+	3	913	c.541C>T	c.(541-543)Cct>Tct	p.P181S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	181						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CCTCATTAACCCTGGTGTGAC	0.443000													15	93					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130008366	130008366	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:130008366C>T	ENST00000431780.2	+	11	1599	c.1154C>T	c.(1153-1155)tCa>tTa	p.S385L	CPA5_ENST00000461828.1_Silent_p.I413I|CPA5_ENST00000474905.1_Silent_p.I413I|CPA5_ENST00000485477.1_Silent_p.I413I|CPA5_ENST00000466363.2_Silent_p.I413I|CPA5_ENST00000393213.3_Silent_p.I413I|CPA5_ENST00000355388.3_Silent_p.I413I	NM_001127442.1	NP_001120914.1	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	0					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCACACAGATCATCCCCACGG	0.607000													20	106					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883439	228883439	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:228883439G>A	ENST00000392056.3	-	7	2177	c.2131C>T	c.(2131-2133)Caa>Taa	p.Q711*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.Q711*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	711						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)		AAAAGCAGTTGATTTGTACTT	0.398000													12	141					0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45731474	45731474	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:45731474G>A	ENST00000413988.1	-	3	181	c.141C>T	c.(139-141)caC>caT	p.H47H	EXOC3L2_ENST00000252482.3_Silent_p.H47H	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	47										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GGCTCCCCCAGTGCTCTTCGT	0.667000													21	118					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298729	125298729	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:125298729G>A	ENST00000538699.1	-	2	1259	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	DCAF12L2_ENST00000360028.2_Silent_p.S393S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	393										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCCCGGCATGGAGTCCAGGC	0.607000													12	117					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108220569	108220569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:108220569C>T	ENST00000273353.3	-	4	445	c.389G>A	c.(388-390)tGg>tAg	p.W130*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	130	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATAGATCATCCACTGGCCATA	0.458000													15	38					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553446	140553446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140553446C>T	ENST00000231137.3	+	1	1204	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		344	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACGATAATCGACCCGAGCT	0.458000													4	25					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39492447	39492447	+	Splice_Site	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:39492447A>G	ENST00000263881.3	-	28	2357	c.2032_splice	c.e28-1	p.V678_splice	MAP4K3_ENST00000437545.1_Splice_Site_p.V594_splice|MAP4K3_ENST00000341681.5_Splice_Site_p.V657_splice|MAP4K3_ENST00000536018.1_Splice_Site_p.V231_splice	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	678	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGGATTTCTTACTGTCAAAGC	0.303000													9	72					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152708303	152708303	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:152708303G>A	ENST00000367255.5	-	54	8992	c.8391C>T	c.(8389-8391)tcC>tcT	p.S2797S	SYNE1_ENST00000265368.4_Silent_p.S2797S|SYNE1_ENST00000423061.1_Silent_p.S2804S|SYNE1_ENST00000448038.1_Silent_p.S2804S|SYNE1_ENST00000341594.5_Silent_p.S2836S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2797					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAGCTCCCTGGACTTCGCAA	0.478000										HNSCC(10;0.0054)			9	102					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116935538	116935538	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:116935538T>C	ENST00000537345.1	+	11	1758	c.1395T>C	c.(1393-1395)ggT>ggC	p.G465G	ATP1A1_ENST00000295598.5_Silent_p.G465G|ATP1A1_ENST00000369496.4_Silent_p.G434G	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	465					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TGTGCTGTGGTTCCGTGAAGG	0.483000													26	72					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611493	17611493	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:17611493C>T	ENST00000381869.3	-	2	2297	c.1824G>A	c.(1822-1824)gtG>gtA	p.V608V	MTUS1_ENST00000262102.6_Silent_p.V608V|MTUS1_ENST00000519263.1_Silent_p.V608V|MTUS1_ENST00000381862.3_Silent_p.V608V	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	608						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		p.V608V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GATTCGATTTCACGGCAGATG	0.433000													12	160					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61228387	61228387	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61228387G>A	ENST00000382768.1	+	4	514	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	SERPINB12_ENST00000269491.1_Missense_Mutation_p.E152K			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	152					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAAAAACCCTGAAAAATCCAG	0.373000													15	80					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107398974	107398974	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:107398974C>T	ENST00000440859.2	+	6	1294	c.827C>T	c.(826-828)tCg>tTg	p.S276L	CBLL1_ENST00000222597.2_Missense_Mutation_p.S275L|CBLL1_ENST00000415884.2_3'UTR	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	276	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CCACCTCGATCGGTCAGTCAG	0.463000													9	64					0	0	1	0	0
EMX1	2016	broad.mit.edu	37	2	73160976	73160976	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:73160976G>A	ENST00000258106.6	+	3	1144	c.766G>A	c.(766-768)Ggg>Agg	p.G256R	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	223						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						GGAGGAGGAAGGGCCTGAGTC	0.582000													3	33					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081232	152081232	+	Silent	SNP	G	G	A	rs71585886		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152081232G>A	ENST00000368804.1	-	2	4460	c.4461C>T	c.(4459-4461)ttC>ttT	p.F1487F		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1487	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTCCAGGAATTTTCTGT	0.557000													16	154					0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43659416	43659416	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:43659416C>T	ENST00000374466.3	+	5	1418	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	361					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGGGAGAGGTCTTGATGTTTT	0.428000													7	48					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28270426	28270426	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:28270426G>A	ENST00000305242.5	-	7	997	c.905C>T	c.(904-906)tCa>tTa	p.S302L	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.S159L|ARMC4_ENST00000537576.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	302							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AAATTTTGGTGATTTTTCTCT	0.294000													15	48					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37319396	37319396	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:37319396C>T	ENST00000262825.5	+	3	404	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	CSF2RB_ENST00000403662.3_Missense_Mutation_p.R63C|CSF2RB_ENST00000406230.1_Missense_Mutation_p.R63C	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	63					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GACCCTCATTCGCCGGGTGAA	0.652000													5	34					0	0	1	0	0
HIST1H3J	8356	broad.mit.edu	37	6	27858564	27858564	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:27858564G>A	ENST00000359303.2	-	1	6	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	HIST1H3J_ENST00000479986.1_5'UTR	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	3					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						TGCTTCGTCCGGGCCATAGTT	0.557000													5	44					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23871804	23871804	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:23871804C>T	ENST00000354639.3	+	24	3274	c.2810C>T	c.(2809-2811)tCa>tTa	p.S937L	STK31_ENST00000428484.1_Missense_Mutation_p.S937L|STK31_ENST00000433467.2_Missense_Mutation_p.S937L|STK31_ENST00000355870.3_Missense_Mutation_p.S960L|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	960	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TATAGAAGTTCAATGACTGCT	0.358000													8	38					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43850481	43850481	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:43850481C>T	ENST00000372769.3	+	2	298	c.208C>T	c.(208-210)Cat>Tat	p.H70Y		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	70	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACACACATATCATGTAGACAT	0.388000													13	82					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71056364	71056364	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:71056364C>T	ENST00000283228.2	-	11	1971	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	PTPRR_ENST00000549308.1_Missense_Mutation_p.E262K|PTPRR_ENST00000342084.4_Missense_Mutation_p.E395K|PTPRR_ENST00000440835.2_Missense_Mutation_p.E262K|PTPRR_ENST00000378778.1_Missense_Mutation_p.E301K|PTPRR_ENST00000537619.2_5'UTR	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	507	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CCTCTCTTTTCCGGCCAGTAT	0.368000													5	29					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	70014163	70014163	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:70014163G>A	ENST00000352241.4	+	10	1490	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	MITF_ENST00000314589.5_Missense_Mutation_p.D427N|MITF_ENST00000531774.1_Missense_Mutation_p.D280N|MITF_ENST00000394351.3_Missense_Mutation_p.D342N|MITF_ENST00000328528.6_Missense_Mutation_p.D442N|MITF_ENST00000472437.1_Missense_Mutation_p.D391N|MITF_ENST00000448226.2_Missense_Mutation_p.D449N|MITF_ENST00000314557.6_Missense_Mutation_p.D336N|MITF_ENST00000394355.2_Missense_Mutation_p.D418N	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	449					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		AACAACTCTCGATCTCACGGA	0.493000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						8	66					0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173616058	173616058	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:173616058G>A	ENST00000333279.2	-	3	483	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	157										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TTTCTTCCCGGAAGTTCAAAG	0.468000													7	100					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64519507	64519507	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:64519507C>T	ENST00000164139.3	-	14	2055	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K	PYGM_ENST00000377432.3_Missense_Mutation_p.E465K	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	553					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)	ACTTTGTATTCCCTCTCTAGG	0.512000													17	122					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934117	44934117	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:44934117A>T	ENST00000291187.4	-	6	1143	c.821T>A	c.(820-822)cTt>cAt	p.L274H	ZNF229_ENST00000588931.1_Missense_Mutation_p.L280H|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ATGCGGGGGAAGGTCTGCATC	0.433000													4	37					0	0	1	0	0
SPRYD4	283377	broad.mit.edu	37	12	56863177	56863177	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:56863177A>G	ENST00000338146.5	+	2	515	c.440A>G	c.(439-441)cAg>cGg	p.Q147R		NM_207344.3	NP_997227.1	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	147	B30.2/SPRY.					nucleus				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						GGTATTGGGCAGCCAGAGAAG	0.552000													6	76					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139833587	139833587	+	Missense_Mutation	SNP	G	G	A	rs148786367		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:139833587G>A	ENST00000303045.6	-	7	1483	c.1037C>T	c.(1036-1038)gCt>gTt	p.A346V	COL22A1_ENST00000435777.1_Missense_Mutation_p.A346V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	346	TSP N-terminal.				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)			CACCCTGACAGCATCTTTCAT	0.577000										HNSCC(7;0.00092)			10	93					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236706463	236706463	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:236706463C>T	ENST00000409538.1	+	7	2025	c.1529C>T	c.(1528-1530)tCg>tTg	p.S510L	AGAP1_ENST00000336665.5_Missense_Mutation_p.S245L|AGAP1_ENST00000409457.1_Missense_Mutation_p.S245L|AGAP1_ENST00000428334.2_Missense_Mutation_p.S84L|AGAP1_ENST00000304032.7_Missense_Mutation_p.S245L			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	245	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCCTGCAAGTCGCTACCTAAT	0.507000													31	142					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134690	128134690	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:128134690G>A	ENST00000368250.1	-	5	1357	c.859C>T	c.(859-861)Cac>Tac	p.H287Y	THEMIS_ENST00000368248.2_Missense_Mutation_p.H366Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.H366Y|THEMIS_ENST00000537166.1_Missense_Mutation_p.H331Y			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	366	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCCACCACGTGAAGAGGCTCC	0.522000													16	71					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142498915	142498915	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142498915G>A	ENST00000466254.1	+	0	191																											AGCCCCTCAAGGAGCAGCCCG	0.647000													4	124					0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925877	27925877	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:27925877C>T	ENST00000244623.1	+	1	859	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CATGCTGAATCCCCTTATATA	0.418000													5	94					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711610	155711610	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:155711610G>A	ENST00000295101.2	+	3	1768	c.1291G>A	c.(1291-1293)Gga>Aga	p.G431R		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	431					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTACAGCTTGGGAGACTTGCC	0.403000													14	84					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116206791	116206791	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:116206791C>T	ENST00000355485.2	+	4	985	c.714C>T	c.(712-714)atC>atT	p.I238I	VANGL1_ENST00000369510.3_Silent_p.I236I|VANGL1_ENST00000310260.3_Silent_p.I238I|VANGL1_ENST00000369509.1_Silent_p.I238I	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	238					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ACCTGGCCATCGTCCTGCTGG	0.597000													6	74					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433873	179433873	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179433873G>A	ENST00000589042.1	-	326	77210	c.76986C>T	c.(76984-76986)atC>atT	p.I25662I	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.I16597I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.I16722I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.I24021I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.I16789I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.I23094I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24021	Ig-like 125.						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)			GGAGCTGATCGATTTTCCAAG	0.398000													17	153					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21394388	21394388	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:21394388C>T	ENST00000313654.9	+	15	2051	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	LAMA3_ENST00000399516.3_Missense_Mutation_p.H604Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	604	Domain V.|Laminin EGF-like 6.				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)	ATGCAAGCTTCATGTTGAAGG	0.388000													8	60					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584581	138584581	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:138584581G>A	ENST00000251691.4	+	12	2127	c.1961G>A	c.(1960-1962)cGa>cAa	p.R654Q		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	654	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.R583Q(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGGTCCCTGCGAACTGCCGCC	0.617000													7	79					0	0	1	0	0
NRF1	4899	broad.mit.edu	37	7	129349038	129349038	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:129349038C>T	ENST00000393232.1	+	6	847	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	NRF1_ENST00000393230.2_Missense_Mutation_p.R244W|NRF1_ENST00000223190.4_Missense_Mutation_p.R244W|NRF1_ENST00000311967.2_Missense_Mutation_p.R244W|NRF1_ENST00000353868.4_Missense_Mutation_p.R244W|NRF1_ENST00000393231.3_Missense_Mutation_p.R244W|NRF1_ENST00000539636.1_Missense_Mutation_p.R83W	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	244					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GGCAAATGTCCGGAGTGATGT	0.502000													15	197					0	0	1	0	0
IL6	3569	broad.mit.edu	37	7	22769135	22769135	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:22769135G>A	ENST00000404625.1	+	5	786	c.327G>A	c.(325-327)gaG>gaA	p.E109E	IL6_ENST00000401651.1_Silent_p.E33E|IL6_ENST00000258743.5_Silent_p.E109E|IL6_ENST00000406575.1_Silent_p.E109E|IL6_ENST00000407492.1_Silent_p.E33E|IL6_ENST00000401630.3_Silent_p.E86E|IL6_ENST00000420258.2_Silent_p.E163E			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	109					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	CCTCTTAGGAGACTTGCCTGG	0.428000													6	69					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59093111	59093111	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:59093111G>A	ENST00000589222.1	+	16	1554		c.e16-1		BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000588874.1_Splice_Site|BCAS3_ENST00000390652.5_Splice_Site|BCAS3_ENST00000585744.1_Splice_Site|BCAS3_ENST00000588462.1_Splice_Site			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3							nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCTCTTTGTAGGGAAACTGAA	0.438000													34	136					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53002075	53002075	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53002075C>T	ENST00000305748.3	-	9	1562	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	510	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTCCTGGCTTCCCCACGGGGG	0.587000													4	86					0	0	1	0	0
KDM7A	80853	broad.mit.edu	37	7	139796362	139796362	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:139796362C>T	ENST00000397560.2	-	17	2464	c.2367G>A	c.(2365-2367)gtG>gtA	p.V789V	JHDM1D_ENST00000006967.5_Silent_p.V789V	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		789					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)					TACCACATTCCACTGGTTTAT	0.403000													5	77					0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100934521	100934521	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:100934521C>T	ENST00000548884.1	+	9	1532	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	NR1H4_ENST00000551379.1_Missense_Mutation_p.R345C|NR1H4_ENST00000188403.7_Missense_Mutation_p.R341C|NR1H4_ENST00000549996.1_Missense_Mutation_p.R284C|NR1H4_ENST00000392986.3_Missense_Mutation_p.R335C	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	345	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TATGTTCCTTCGTTCAGCTGA	0.388000													12	88					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93982115	93982115	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:93982115C>T	ENST00000369303.4	-	6	1534	c.1350G>A	c.(1348-1350)atG>atA	p.M450I		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	450	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTCTCTCCTTCATTACTCCAC	0.438000													8	102					0	0	1	0	0
LUC7L3	51747	broad.mit.edu	37	17	48827944	48827944	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48827944G>A	ENST00000505658.1	+	10	1410	c.1221G>A	c.(1219-1221)tcG>tcA	p.S407S	LUC7L3_ENST00000544170.1_Silent_p.S331S|LUC7L3_ENST00000393227.2_Silent_p.S407S|LUC7L3_ENST00000240304.1_Silent_p.S407S			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	407					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						ACACTGAATCGAAGGAAAGTG	0.398000													19	103					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674269	4674269	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4674269C>T	ENST00000396952.5	+	2	1163	c.513C>T	c.(511-513)ttC>ttT	p.F171F	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTGCCCTTCTGCCGCTCCA	0.537000													10	155					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328315	48328315	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:48328315C>T	ENST00000319988.1	+	1	541	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181T(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGATGTTCATCCCCTGCTCAA	0.488000													13	51					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825279	4825279	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4825279G>A	ENST00000380382.1	-	1	568	c.569C>T	c.(568-570)tCt>tTt	p.S190F	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.S111F|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCACAGAAGAAAAGGCATG	0.527000													8	68					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088159	9088159	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9088159G>A	ENST00000397910.4	-	1	3859	c.3656C>T	c.(3655-3657)cCc>cTc	p.P1219L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1219	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						AGTGTCCAAGGGAACCAGGGT	0.507000													47	220					0	0	1	0	0
MGARP	84709	broad.mit.edu	37	4	140187969	140187969	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:140187969C>T	ENST00000398955.1	-	4	686	c.507G>A	c.(505-507)acG>acA	p.T169T		NM_032623.3	NP_116012.2	Q8TDB4	CD049_HUMAN	mitochondria-localized glutamic acid-rich protein	169						integral to membrane											GGTTTACTTCCGTGGTTTCCC	0.532000													27	110					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73064582	73064582	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73064582C>T	ENST00000429829.1	-	0	8006					NR_001564.2																						TTATCAGCACCCCTGCTGTAC	0.493000													12	40					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158140822	158140822	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:158140822C>T	ENST00000259056.4	+	2	1968	c.1483C>T	c.(1483-1485)Ctc>Ttc	p.L495F		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	495	Catalytic subdomain A.				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						TCACAATAACCTCCCAACCAC	0.463000													8	85					0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42891901	42891901	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:42891901G>A	ENST00000342560.5	+	4	667	c.579G>A	c.(577-579)atG>atA	p.M193I	GDAP1L1_ENST00000537864.1_Start_Codon_SNP_p.M1I	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	193	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGACCTCATGAAACTGGACC	0.547000													38	298					0	0	1	0	0
FUT4	2526	broad.mit.edu	37	11	94278656	94278656	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:94278656C>T	ENST00000358752.2	+	1	1640	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	453					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTTGTGCCCCGCGGCGCCTT	0.647000													6	67					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79478251	79478251	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:79478251G>A	ENST00000575842.1	-	3	1191	c.765C>T	c.(763-765)ttC>ttT	p.F255F	ACTG1_ENST00000331925.2_Silent_p.F255F|ACTG1_ENST00000575087.1_Silent_p.F255F|ACTG1_ENST00000573283.1_Silent_p.F255F			P63261	ACTG_HUMAN	actin, gamma 1	255					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CCGGACACCGGAACCGCTCAT	0.567000													15	92					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68995569	68995569	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:68995569C>T	ENST00000288368.4	+	18	2250	c.1973C>T	c.(1972-1974)tCg>tTg	p.S658L	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	658	PDZ 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTCCTGAAATCGTGTTTAAAC	0.353000													8	41					0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74414461	74414461	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:74414461G>A	ENST00000376332.3	-	8	1331	c.835C>T	c.(835-837)Cta>Tta	p.L279L	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.L279L	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	279	VWFC 3.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CAGGTGCATAGGATGCAGGGC	0.642000													3	35					0	0	1	0	0
MAFA	389692	broad.mit.edu	37	8	144511643	144511643	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:144511643C>T	ENST00000333480.2	-	1	933	c.934G>A	c.(934-936)Gag>Aag	p.E312K	MAFA_ENST00000528185.1_Intron	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	312					insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			TCGTATTTCTCCTTGTACAGG	0.721000										HNSCC(29;0.082)			7	23					0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925402	218925402	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:218925402C>T	ENST00000439871.1	-	0	978					NR_002712.1																						CCACATGGTCCAGTGCTTCTG	0.557000													6	70					0	0	1	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028429	142028429	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142028429C>T	ENST00000390353.2	+	0	220																											GTACTGGTATCGACAAGACCC	0.493000													51	116					0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146684032	146684032	+	Silent	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:146684032T>G	ENST00000254090.4	-	5	947	c.559A>C	c.(559-561)Aga>Cga	p.R187R	FMO5_ENST00000441068.2_Silent_p.R187R|FMO5_ENST00000369272.3_Silent_p.R187R|FMO5_ENST00000465173.1_5'UTR	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	187						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					ATAATGACTCTCTTTCCAGTG	0.413000													17	88					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11186741	11186741	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:11186741G>A	ENST00000361445.4	-	46	6540	c.6464C>T	c.(6463-6465)tCc>tTc	p.S2155F	MTOR_ENST00000376838.1_Missense_Mutation_p.S360F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2155					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						CGGTGCTATGGACTGAATGCG	0.502000													14	70					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100626668	100626668	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:100626668C>T	ENST00000308731.7	-	4	425	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	BTK_ENST00000372880.1_Missense_Mutation_p.E88K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	88	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGCTCCATTTCACTGGACTCT	0.373000									Agammaglobulinemia, X-linked				24	69					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42490295	42490295	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:42490295C>T	ENST00000545399.1	-	5	636	c.483G>A	c.(481-483)atG>atA	p.M161I	ATP1A3_ENST00000602133.1_Missense_Mutation_p.M118I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.M159I|ATP1A3_ENST00000302102.5_Missense_Mutation_p.M148I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	148					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGAAGGACTCCATGATCTTGG	0.622000													12	74					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842555	123842555	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:123842555G>A	ENST00000369005.1	+	4	880	c.540G>A	c.(538-540)aaG>aaA	p.K180K	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.K180K|TACC2_ENST00000334433.3_Silent_p.K180K|TACC2_ENST00000515273.1_Silent_p.K180K|TACC2_ENST00000515603.1_Silent_p.K180K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	180						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)				GACAGCCGAAGGAAGAAGGAC	0.577000													5	19					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10035157	10035157	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:10035157G>A	ENST00000378380.3	+	9	2411	c.2082G>A	c.(2080-2082)aaG>aaA	p.K694K	ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Silent_p.K694K	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.K694N(1)									CAGAGGGAAAGAAAGTACAGA	0.343000													10	35					0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156830137	156830137	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:156830137G>A	ENST00000536354.2	+	5	466	c.402G>A	c.(400-402)acG>acA	p.T134T		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	134					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TTCTGGAGACGATGACAGCCT	0.433000													11	20					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067619	190067619	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:190067619C>T	ENST00000367462.3	-	8	2061	c.1830G>A	c.(1828-1830)tgG>tgA	p.W610*	FAM5C_ENST00000534846.1_Nonsense_Mutation_p.W508*|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		610						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GAGTTAATGTCCAGTTATAAC	0.468000													46	194					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94474306	94474306	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94474306C>T	ENST00000370225.3	-	41	5922		c.e41+1		ABCA4_ENST00000536513.1_Splice_Site|ABCA4_ENST00000535881.1_Splice_Site|ABCA4_ENST00000465352.1_Splice_Site	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4						phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATTCCCTTACCTTGGTTAGT	0.393000													8	196					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17417442	17417442	+	Missense_Mutation	SNP	G	G	A	rs144151196		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:17417442G>A	ENST00000262545.2	+	8	1114	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	PCSK2_ENST00000536609.1_Missense_Mutation_p.A232T|PCSK2_ENST00000377899.1_Missense_Mutation_p.A248T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	267	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATCTACAGCGCCAGCTGGGG	0.617000													9	55					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156788589	156788589	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156788589C>T	ENST00000347377.6	+	26	3453	c.3022C>T	c.(3022-3024)Ctc>Ttc	p.L1008F	CYFIP2_ENST00000541131.1_Missense_Mutation_p.L933F|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L812F|CYFIP2_ENST00000521420.1_Missense_Mutation_p.L982F|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L1033F|CYFIP2_ENST00000435847.2_Missense_Mutation_p.L707F|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L1008F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1033					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCTGCCTCCTCATAGAGCA	0.552000													6	39					0	0	1	0	0
C1orf115	79762	broad.mit.edu	37	1	220869965	220869965	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:220869965G>A	ENST00000294889.5	+	2	879	c.321G>A	c.(319-321)aaG>aaA	p.K107K		NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN	chromosome 1 open reading frame 115	107						integral to membrane				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		ATGTCGGGAAGGTCATCATCA	0.488000													6	100					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169792783	169792783	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:169792783C>T	ENST00000263817.6	-	22	2895	c.2771G>A	c.(2770-2772)gGa>gAa	p.G924E		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	924	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AGAGGCAAATCCTGTCAACAT	0.493000													10	39					0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	45955566	45955566	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:45955566A>T	ENST00000257821.4	-	18	2622	c.1999T>A	c.(1999-2001)Tcc>Acc	p.S667T	PHF21A_ENST00000323180.6_Missense_Mutation_p.S620T|PHF21A_ENST00000418153.2_Missense_Mutation_p.S666T	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	666	Required for transcriptional repression.			PSPSSQSCTANCNQGEETK -> LCSLPELHSEL (in Ref. 7).	blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CAGCTCTGGGAGGAGGGGGAA	0.632000													4	52					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128270	6128270	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:6128270G>A	ENST00000261405.5	-	28	4568	c.4314C>T	c.(4312-4314)ttC>ttT	p.F1438F		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1438	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGCTCAGCACGAAGGCCTTGT	0.592000													10	63					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190596	153190596	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:153190596G>A	ENST00000285900.5	+	16	2875	c.2532G>A	c.(2530-2532)ttG>ttA	p.L844L	GRIA1_ENST00000448073.4_Silent_p.L854L|GRIA1_ENST00000518142.1_Silent_p.L764L|GRIA1_ENST00000518783.1_Silent_p.L854L|GRIA1_ENST00000521843.2_Silent_p.L775L|GRIA1_ENST00000340592.5_Silent_p.L844L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	844					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.L844L(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTTTTTGTTTGATCCCACAGC	0.567000													12	53					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91549253	91549253	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:91549253C>T	ENST00000509176.1	+	6	2090	c.1802C>T	c.(1801-1803)cCa>cTa	p.P601L	CCSER1_ENST00000333691.8_Missense_Mutation_p.P601L|CCSER1_ENST00000432775.2_Missense_Mutation_p.P601L	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		CCCAACAGTCCATCTGCGGAT	0.453000													6	39					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115080360	115080360	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:115080360G>A	ENST00000537058.1	-	8	1032	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	CADM1_ENST00000331581.6_Missense_Mutation_p.P338S|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000452722.2_Missense_Mutation_p.P338S			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	338				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		gtggGAGGAGGGATAGTTGTG	0.453000													4	49					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91947859	91947859	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:91947859G>A	ENST00000375807.3	+	6	909	c.838G>A	c.(838-840)Gta>Ata	p.V280I	SECISBP2_ENST00000534113.2_Missense_Mutation_p.V212I|SECISBP2_ENST00000339901.4_Missense_Mutation_p.V207I	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	280					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AAATGAATCTGTAACTGCTAA	0.318000													6	27					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163059452	163059452	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:163059452C>T	ENST00000188790.4	-	14	1360	c.1152_splice	c.e14-1	p.E385_splice	FAP_ENST00000443424.1_Splice_Site_p.E360_splice	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	385					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATAGCATTTTCCTATAAAAAG	0.378000													9	65					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2472340	2472340	+	Silent	SNP	C	C	T	rs150285273		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:2472340C>T	ENST00000258711.6	+	2	201	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	22					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TCCTGCTGATCATCGTGTACT	0.701000													14	74					0	0	1	0	0
KLRD1	3824	broad.mit.edu	37	12	10462028	10462028	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:10462028G>A	ENST00000381908.3	+	2	309	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	KLRD1_ENST00000538997.1_Intron|KLRD1_ENST00000543777.1_Missense_Mutation_p.G17R|KLRD1_ENST00000543420.1_Missense_Mutation_p.G17R|KLRD1_ENST00000336164.4_Missense_Mutation_p.G17R|KLRD1_ENST00000381907.4_Missense_Mutation_p.G17R|KLRD1_ENST00000350274.5_Intron			Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	17					cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						TGGGACCTTAGGGATAATATG	0.368000													6	46					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371293	48371293	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:48371293C>T	ENST00000395702.2	+	2	988	c.761C>T	c.(760-762)tCc>tTc	p.S254F	ZNF488_ENST00000586537.1_Missense_Mutation_p.S147F|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CCCTCATCATCCTCCACCACT	0.602000													4	45					0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	168927049	168927049	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:168927049A>G	ENST00000354536.5	+	3	500	c.280A>G	c.(280-282)Agg>Ggg	p.R94G	SMOC2_ENST00000356284.2_Missense_Mutation_p.R94G	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	94	Thyroglobulin type-1 1.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TGTGGCCGAAAGGAAGTATAC	0.502000													9	61					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39907525	39907525	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:39907525C>T	ENST00000425673.1	+	7	954	c.629C>T	c.(628-630)cCg>cTg	p.P210L	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P151L|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P210L|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.P210L|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.P210L			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	210	DH.				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			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCGTTGTCTCCGCCAGCAGCC	0.652000													14	169					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132162218	132162218	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:132162218G>A	ENST00000511190.1	-	6	500	c.31C>T	c.(31-33)Caa>Taa	p.Q11*	USP26_ENST00000406273.1_Nonsense_Mutation_p.Q11*|USP26_ENST00000370832.1_Nonsense_Mutation_p.Q11*	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	11					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTCCCTATTTGGACAAAACCA	0.358000													7	24					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718576	25718576	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:25718576C>T	ENST00000520164.1	-	13	1868	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	EBF2_ENST00000408929.3_Missense_Mutation_p.G296E|EBF2_ENST00000535548.1_Missense_Mutation_p.G175E	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	444					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G444E(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGATTATTTCCTTGTGTTGA	0.473000													16	81					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143371182	143371182	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:143371182G>A	ENST00000316549.6	-	6	878	c.670C>T	c.(670-672)Cat>Tat	p.H224Y		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	224					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TGCAGTTCATGGAAAATGGCC	0.468000													6	17					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32849444	32849444	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:32849444C>T	ENST00000397452.1	-	3	281	c.171G>A	c.(169-171)aaG>aaA	p.K57K	BPIFC_ENST00000397450.1_Silent_p.K57K|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000300399.3_Silent_p.K57K|BPIFC_ENST00000534972.1_5'UTR			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	57						extracellular region	lipopolysaccharide binding|phospholipid binding										CTGGGAGTTTCTTTTCTTTTA	0.318000													5	34					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714533	138714533	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:138714533G>A	ENST00000389532.4	-	11	2038	c.1974C>T	c.(1972-1974)ttC>ttT	p.F658F	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.F669F|CAMSAP1_ENST00000312405.6_Silent_p.F380F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	658						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGCCCATGGGGAATTCTGAGC	0.592000													5	20					0	0	1	0	0
ERAP1	51752	broad.mit.edu	37	5	96139197	96139197	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:96139197A>T	ENST00000296754.3	-	2	690	c.433T>A	c.(433-435)Tac>Aac	p.Y145N	ERAP1_ENST00000443439.2_Missense_Mutation_p.Y145N	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	145					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		ACAACTGTGTACGGGAGCCCG	0.527000													13	60					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151161509	151161509	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:151161509G>A	ENST00000282466.3	-	5	5225	c.5226C>T	c.(5224-5226)tcC>tcT	p.S1742S		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1742					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGGAGGATAGGAAACCACAG	0.522000													15	61					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024351	55024351	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:55024351C>T	ENST00000324000.3	+	3	2544	c.510C>T	c.(508-510)atC>atT	p.I170I		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	170					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ATAGTGGGATCCTGACAGGGA	0.408000													17	75					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147624	6147624	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:6147624G>A	ENST00000588304.1	+	3	531	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	ACSBG2_ENST00000586696.1_Missense_Mutation_p.E79K|ACSBG2_ENST00000591403.1_Missense_Mutation_p.E79K|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E79K|ACSBG2_ENST00000588485.1_5'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	79					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAAAAAGTGGGAAATTCTGAA	0.433000													34	159					0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147084830	147084830	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:147084830C>T	ENST00000370467.3	+	2	461	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	129	P-type.					integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGAATTTTTTCTTTCCAACAA	0.373000													8	25					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77355084	77355084	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:77355084G>A	ENST00000282849.5	-	15	2597	c.2179C>T	c.(2179-2181)Cat>Tat	p.H727Y		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	727	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCTAGTTCATGATCACATCCC	0.393000													7	68					0	0	1	0	0
VASH2	79805	broad.mit.edu	37	1	213146091	213146091	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:213146091C>T	ENST00000366968.4	+	7	822	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366964.3_Missense_Mutation_p.R81W|VASH2_ENST00000366966.2_Missense_Mutation_p.R158W|VASH2_ENST00000366965.2_Missense_Mutation_p.R179W|VASH2_ENST00000517399.1_Missense_Mutation_p.R223W|VASH2_ENST00000366967.2_Missense_Mutation_p.R119W	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	223					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		ATTGACTTTTCGGACTCTGAG	0.512000													8	59					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	844788	844788	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:844788G>A	ENST00000314167.4	-	26	3703	c.3593C>T	c.(3592-3594)cCa>cTa	p.P1198L	GAK_ENST00000511163.1_Missense_Mutation_p.P1119L|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1198					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AATGGTCTTTGGCCCTTTCTT	0.512000													8	71					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110366388	110366388	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:110366388T>C	ENST00000519681.1	+	5	499	c.57T>C	c.(55-57)aaT>aaC	p.N19N	PAK3_ENST00000372010.1_Silent_p.N19N|PAK3_ENST00000417227.1_Silent_p.N19N|PAK3_ENST00000262836.4_Silent_p.N19N|PAK3_ENST00000360648.4_Silent_p.N19N|PAK3_ENST00000372007.4_Silent_p.N19N|PAK3_ENST00000518291.1_Silent_p.N19N|PAK3_ENST00000446737.1_Silent_p.N19N|PAK3_ENST00000425146.1_Silent_p.N19N			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	19					multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TGAGGATGAATAGTAACAACC	0.473000										TSP Lung(19;0.15)			23	90					0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167550570	167550570	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:167550570G>A	ENST00000341935.5	+	3	1404	c.852G>A	c.(850-852)atG>atA	p.M284I	CCR6_ENST00000400926.2_Missense_Mutation_p.M284I|CCR6_ENST00000349984.4_Missense_Mutation_p.M284I	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	284					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TGGGTAAAATGAACCGATCCT	0.483000													14	87					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143957196	143957196	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:143957196G>A	ENST00000292427.4	-	6	1085	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	CYP11B1_ENST00000517471.1_Silent_p.I351I|CYP11B1_ENST00000377675.3_Silent_p.I422I	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	351					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GATGTTCACTGATGCTGGCTG	0.657000									Familial Hyperaldosteronism type I				9	137					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57946980	57946980	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:57946980G>A	ENST00000335397.3	+	3	380	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E22K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGAATATCCTGAATGGGCACT	0.453000													9	98					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577272	179577272	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179577272C>T	ENST00000589042.1	-	95	27601	c.27377G>A	c.(27376-27378)gGa>gAa	p.G9126E	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8809E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G7882E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8809	Ig-like 74.						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)			CAGGGGTTTTCCTTTCTCTAT	0.388000													4	19					0	0	1	0	0
CMC4	100272147	broad.mit.edu	37	X	154290181	154290181	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:154290181G>A	ENST00000369484.3	-	3	822	c.144C>T	c.(142-144)gtC>gtT	p.V48V	CMC4_ENST00000369479.1_Silent_p.V48V	NM_001018024.2	NP_001018024.1			C-x(9)-C motif containing 4																		CTGAACAGACGACAGATCTTC	0.428000													23	51					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729467	18729467	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:18729467C>T	ENST00000440756.2	-	3	1009	c.907G>A	c.(907-909)Gga>Aga	p.G303R	PSD3_ENST00000523619.1_Missense_Mutation_p.G238R|PSD3_ENST00000327040.8_Missense_Mutation_p.G303R			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	303					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATTTCCACTCCTTGAAATTCC	0.522000													13	105					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119345460	119345460	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:119345460C>T	ENST00000338891.7	-	2	1121	c.678G>A	c.(676-678)gaG>gaA	p.E226E	FAM184A_ENST00000521531.1_Silent_p.E226E|FAM184A_ENST00000368475.4_Silent_p.E106E|FAM184A_ENST00000522284.1_Silent_p.E106E|FAM184A_ENST00000352896.5_Silent_p.E106E|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	226										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GGGACTCCACCTCCATTCTGT	0.433000													9	40					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55805700	55805700	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55805700G>A	ENST00000309383.1	+	7	890	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	BRSK1_ENST00000585418.1_Missense_Mutation_p.E205K|BRSK1_ENST00000590333.1_Missense_Mutation_p.E221K	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	205	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.E205K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CTTCCAGGGGGAAAAATATGA	0.577000													5	32					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65377018	65377018	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:65377018T>A	ENST00000330909.8	-	14	2214	c.2215A>T	c.(2215-2217)Aaa>Taa	p.K739*	MAGI1_ENST00000402939.2_Nonsense_Mutation_p.K739*|MAGI1_ENST00000497477.2_Nonsense_Mutation_p.K739*|MAGI1_ENST00000483466.1_Nonsense_Mutation_p.K739*	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	739					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)		TGGCTGTCTTTCCTTTCCAGT	0.502000													9	32					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330069	125330069	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:125330069G>A	ENST00000304865.2	-	1	769	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAAGTAGAGGGAATCTTGAGA	0.433000													9	18					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69472545	69472545	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:69472545C>T	ENST00000303714.4	+	18	1945	c.1623C>T	c.(1621-1623)ccC>ccT	p.P541P		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	541	Pro-rich.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ccacccttccccctcctcccc	0.697000									Familial Infantile Hemangioma				4	7					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122928507	122928507	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:122928507G>A	ENST00000534624.1	-	9	2152	c.1876C>T	c.(1876-1878)Cct>Tct	p.P626S	HSPA8_ENST00000534319.1_Missense_Mutation_p.P390S|HSPA8_ENST00000453788.2_Missense_Mutation_p.P473S|HSPA8_ENST00000533540.1_Missense_Mutation_p.P480S|HSPA8_ENST00000227378.3_Missense_Mutation_p.P626S|HSPA8_ENST00000526110.1_Missense_Mutation_p.P607S|HSPA8_ENST00000532636.1_Missense_Mutation_p.P626S	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	626					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCACCACCAGGAAATCCCCCA	0.522000													12	85					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116056765	116056765	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:116056765C>T	ENST00000369271.3	-	18	2690	c.2390G>A	c.(2389-2391)gGc>gAc	p.G797D	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.G854D|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.G801D	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	801					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AGTGCCTTTGCCTGTGACCAC	0.577000													20	82					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48683428	48683428	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48683428G>A	ENST00000416767.4	+	23	4494	c.4466G>A	c.(4465-4467)gGa>gAa	p.G1489E	CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000359106.5_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000503485.1_Intron			O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	978					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)	AAGGAGGCTGGAGGGGGCACA	0.617000													13	78					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33412096	33412096	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:33412096C>T	ENST00000404816.2	+	6	1728	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y	LTBP1_ENST00000407925.1_Missense_Mutation_p.H133Y|LTBP1_ENST00000354476.3_Missense_Mutation_p.H459Y|LTBP1_ENST00000390003.4_Missense_Mutation_p.H133Y|LTBP1_ENST00000402934.1_Missense_Mutation_p.H133Y|LTBP1_ENST00000418533.2_Missense_Mutation_p.H133Y|LTBP1_ENST00000404525.1_Missense_Mutation_p.H133Y			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	459					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCATGTCATCCATTCAACACA	0.512000													9	41					0	0	1	0	0
CNPY1	285888	broad.mit.edu	37	7	155301590	155301590	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:155301590G>A	ENST00000321736.5	-	2	305	c.144_splice	c.e2+1	p.A48_splice	CNPY1_ENST00000406197.1_Splice_Site_p.A48_splice	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	48										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AGAGCTTACCGCAAATTTCAA	0.343000													3	40					0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924522	105924522	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:105924522G>A	ENST00000526793.1	-	3	1053	c.894C>T	c.(892-894)ttC>ttT	p.F298F	KBTBD3_ENST00000534815.1_Silent_p.F219F|KBTBD3_ENST00000531837.1_Silent_p.F298F	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	294										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TTTTGTGAATGAATATGTATT	0.363000													7	49					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75109339	75109339	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:75109339C>T	ENST00000290573.2	+	12	2412	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	HK2_ENST00000409174.1_Silent_p.F576F	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	604	Catalytic.|Substrate 2 binding.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CCTTCTCCTTCCCCTGCCAGC	0.557000													4	78					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680810	128680810	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:128680810G>A	ENST00000344954.6	+	9	1575	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E	FLI1_ENST00000429175.2_Missense_Mutation_p.G429E|FLI1_ENST00000281428.8_Missense_Mutation_p.G363E|FLI1_ENST00000525560.1_Missense_Mutation_p.G236E|FLI1_ENST00000534087.1_Missense_Mutation_p.G396E			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	429					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CCCACGGGGGGAATCTACCCC	0.562000			T	EWSR1	Ewing sarcoma								13	59					0	0	1	0	0
TMIE	259236	broad.mit.edu	37	3	46751177	46751177	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:46751177G>A	ENST00000326431.3	+	4	625	c.470G>A	c.(469-471)tGa>tAa	p.*157*		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	0						integral to membrane				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		GGAGAGAAATGAAGACATCCT	0.542000													3	26					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96795638	96795638	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:96795638G>A	ENST00000342380.2	-	8	798	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	267					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GAGGCACTCAGGTTCCATCGC	0.667000													7	54					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599579	123599579	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:123599579G>A	ENST00000340011.5	+	5	1443	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	SPAM1_ENST00000439500.1_Silent_p.L362L|SPAM1_ENST00000223028.7_Silent_p.L362L|SPAM1_ENST00000402183.2_Silent_p.L362L|SPAM1_ENST00000460182.1_Silent_p.L362L	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	362					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGACTATACTGAATCCTTACA	0.373000													6	48					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54914572	54914572	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:54914572C>T	ENST00000293373.6	+	17	1799	c.1720C>T	c.(1720-1722)Cac>Tac	p.H574Y	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.H524Y	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	574					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GATTTGTGCTCACTTTGTCCA	0.468000													40	201					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141418911	141418911	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141418911G>A	ENST00000397541.2	+	4	1031	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	209					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TTCCCGCTATGAAAAAGAATT	0.348000													13	68					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75065508	75065508	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:75065508C>T	ENST00000326665.5	-	11	1815	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	C1orf173_ENST00000420661.2_Missense_Mutation_p.D336N|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	533	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTTTTTTATCATCCAAAGGT	0.398000													16	158					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430875	37430875	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:37430875C>T	ENST00000374660.1	+	7	981	c.882C>T	c.(880-882)ttC>ttT	p.F294F	ANKRD30A_ENST00000602533.1_Silent_p.F294F|ANKRD30A_ENST00000361713.1_Silent_p.F294F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	350						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTGGAAAGTTCGAACAGTCAG	0.443000													32	72					0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121304984	121304984	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121304984C>T	ENST00000334384.3	+	4	495	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	162						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CCCAGAACATCCCCCAGTCCT	0.493000													14	89					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104999240	104999240	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:104999240C>T	ENST00000372582.1	+	10	2018	c.1262C>T	c.(1261-1263)cCt>cTt	p.P421L	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P421L|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.P26L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	421	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTGACAATCCTGAAGAAGAG	0.388000													16	62					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398533	89398533	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:89398533C>T	ENST00000439576.2	+	12	3091	c.2717C>T	c.(2716-2718)tCc>tTc	p.S906F	ACAN_ENST00000559004.1_Missense_Mutation_p.S906F|ACAN_ENST00000561243.1_Missense_Mutation_p.S906F|ACAN_ENST00000352105.7_Missense_Mutation_p.S906F	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	906					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGTCTTACTTCCACAGTGGGC	0.572000													4	43					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217122	150217122	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150217122G>A	ENST00000313543.4	+	2	217	c.60G>A	c.(58-60)ggG>ggA	p.G20G		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	20							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGAAGTGGGAAAAGTGCAA	0.498000													5	51					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362500	105362500	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:105362500G>A	ENST00000369774.4	-	15	2751	c.2475C>T	c.(2473-2475)ctC>ctT	p.L825L	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.L692L|SH3PXD2A_ENST00000538130.1_Silent_p.L660L|SH3PXD2A_ENST00000355946.2_Silent_p.L797L|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	825					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TGGTGGCTGGGAGGGTGATGA	0.622000													27	78					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120512204	120512204	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:120512204G>A	ENST00000256646.2	-	6	1257	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	346	EGF-like 9; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGAGTACAGGAGGCGAAGG	0.557000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				7	47					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117709096	117709096	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:117709096C>T	ENST00000368508.3	-	13	2059	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E616K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	621	Fibronectin type-III 3.				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)		TGAGTGACTTCAGGAGGGTCT	0.438000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								29	151					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139299123	139299123	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:139299123C>T	ENST00000406875.3	-	8	1993	c.1899G>A	c.(1897-1899)cgG>cgA	p.R633R	HIPK2_ENST00000342645.6_Silent_p.R633R|HIPK2_ENST00000428878.2_Silent_p.R606R	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	633	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGGGCATGCTCCGCTGGGCCA	0.577000													9	26					0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46986972	46986972	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:46986972C>T	ENST00000306503.5	+	2	1475	c.1303C>T	c.(1303-1305)Cac>Tac	p.H435Y	SOCS5_ENST00000394861.2_Missense_Mutation_p.H435Y	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	435	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GCAGTGGAATCACAACTTTAG	0.483000													20	104					0	0	1	0	0
EFNB2	1948	broad.mit.edu	37	13	107145430	107145430	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:107145430C>T	ENST00000245323.4	-	5	1109	c.960G>A	c.(958-960)gaG>gaA	p.E320E		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	320					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GCGGGGGCATCTCCTGGACGA	0.592000													5	29					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822251	129822251	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:129822251G>A	ENST00000422113.2	-	4	1553	c.1227C>T	c.(1225-1227)atC>atT	p.I409I		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	409						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGTCAGACGTGATCTCTCCGG	0.582000													10	137					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84269854	84269854	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:84269854G>A	ENST00000428679.2	-	28	3193	c.2600C>T	c.(2599-2601)cCc>cTc	p.P867L	SNAP91_ENST00000195649.6_Missense_Mutation_p.P862L|SNAP91_ENST00000520213.1_Missense_Mutation_p.P560L|SNAP91_ENST00000439399.2_Missense_Mutation_p.P867L|SNAP91_ENST00000520302.1_Missense_Mutation_p.P837L|SNAP91_ENST00000437520.1_Missense_Mutation_p.P560L|SNAP91_ENST00000369694.2_Missense_Mutation_p.P867L|SNAP91_ENST00000521743.1_Missense_Mutation_p.P867L|SNAP91_ENST00000521485.1_Missense_Mutation_p.P862L			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	867	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGCTCCAAAGGGGGGCCTCAT	0.517000													13	69					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164714347	164714347	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:164714347C>T	ENST00000264382.3	-	40	4730	c.4668G>A	c.(4666-4668)agG>agA	p.R1556R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1556	Sucrase.				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	p.R1556S(1)		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)	TGTTGTGATTCCTTGAGTATG	0.353000										HNSCC(35;0.089)			7	41					0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81205386	81205386	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:81205386C>T	ENST00000552864.1	-	5	762	c.560G>A	c.(559-561)cGa>cAa	p.R187Q		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	187	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TGGGGTGTATCGCACCACCAG	0.483000													4	44					0	0	1	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310737	75310737	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:75310737C>T	ENST00000562212.1	+	6	556	c.398C>T	c.(397-399)cCc>cTc	p.P133L	SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000425597.3_Intron|SCAMP5_ENST00000361900.6_Intron|SCAMP5_ENST00000568081.1_Intron			Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	132					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						GCCCGCAGCCCCACACTGGCC	0.587000													9	126					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354861	45354861	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:45354861C>T	ENST00000359271.2	+	2	1436	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	396						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CTCTGCCCTCCCTGGGCCCCC	0.637000													7	43					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58477257	58477257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:58477257C>T	ENST00000344743.3	-	6	1014	c.873G>A	c.(871-873)tgG>tgA	p.W291*	GLYAT_ENST00000529732.1_Nonsense_Mutation_p.W291*	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	291					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GTACACAGTTCCACTGGTTCC	0.433000													9	84					0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120118298	120118298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:120118298G>A	ENST00000332843.2	+	6	743	c.702G>A	c.(700-702)tgG>tgA	p.W234*		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	234	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			ATAGCAACTGGAATGAGGGGG	0.507000													10	52					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954687	79954687	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:79954687G>A	ENST00000306729.7	+	7	995	c.898G>A	c.(898-900)Gag>Aag	p.E300K	ASPSCR1_ENST00000306739.4_Missense_Mutation_p.E300K|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.E223K	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	300							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			gcaggagcgggagcgggatcc	0.642000			T	TFE3	alveolar soft part sarcoma								9	75					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76715024	76715024	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:76715024C>T	ENST00000369950.3	-	10	1304	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	372					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTGAATTGTCCCCACATCCAA	0.418000													9	73					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70423284	70423284	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:70423284C>T	ENST00000327305.6	-	8	1624	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	NETO1_ENST00000583169.1_Missense_Mutation_p.E323K|NETO1_ENST00000299430.2_Missense_Mutation_p.E322K	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	323	LDL-receptor class A.				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)		CAGTGATTTTCATCCCAAGGA	0.378000													7	60					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753931	49753931	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:49753931G>A	ENST00000304801.3	-	1	1122	c.970C>T	c.(970-972)Cat>Tat	p.H324Y		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	324					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					ACTTGAGCATGATTCTTGTTG	0.488000													32	163					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424120	56424120	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56424120G>A	ENST00000588751.1	-	5	1087	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	NLRP13_ENST00000342929.3_Missense_Mutation_p.P355S			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	355	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTAGCCAGGGGAACCAATTCT	0.473000													13	80					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143603400	143603400	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:143603400C>T	ENST00000517894.1	+	21	3993	c.3099C>T	c.(3097-3099)gcC>gcT	p.A1033A	BAI1_ENST00000323289.5_Silent_p.A1033A			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1033					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)					TCACCGAGGCCTGGCAGTCCT	0.692000													3	27					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126774213	126774213	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:126774213G>A	ENST00000274473.6	+	18	2454	c.2187G>A	c.(2185-2187)ggG>ggA	p.G729G	MEGF10_ENST00000503335.2_Silent_p.G729G	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	729	EGF-like 13.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CCTACGATGGGGAATGTAAAT	0.542000													13	95					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907327	153907327	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:153907327C>T	ENST00000361217.4	-	18	3100	c.2682G>A	c.(2680-2682)cgG>cgA	p.R894R		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	894	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgcCGTTCTCTCA	0.647000													6	82					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087230	47087230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:47087230G>A	ENST00000374312.1	+	3	866	c.447G>A	c.(445-447)tgG>tgA	p.W149*	NPY4R_ENST00000395716.1_Nonsense_Mutation_p.W149*	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		CAACAGGCTGGAAGCCCAGCA	0.592000													10	144					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63885182	63885182	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:63885182G>A	ENST00000246841.3	+	2	2486	c.1443G>A	c.(1441-1443)acG>acA	p.T481T	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	453	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GCTCCATCACGGAGACCTTGG	0.627000													16	38					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629267	47629267	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:47629267G>A	ENST00000546455.1	+	4	1152	c.421G>A	c.(421-423)Gag>Aag	p.E141K	PCED1B_ENST00000432328.1_Missense_Mutation_p.E141K					PC-esterase domain containing 1B																		AAGCTACCTGGAGAACCTGGA	0.622000													11	63					0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14891492	14891492	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrY:14891492C>T	ENST00000338981.3	+	22	4008	c.3063C>T	c.(3061-3063)ttC>ttT	p.F1021F	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1021					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACATCTCTTTCCTTTGGCAAG	0.358000													7	44					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17464556	17464556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:17464556C>T	ENST00000380647.3	+	21	3550	c.3466C>T	c.(3466-3468)Cga>Tga	p.R1156*	CNTLN_ENST00000262360.5_Nonsense_Mutation_p.R1156*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.R1156*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1156						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CTTGAAATTTCGACAGAAAGT	0.284000													6	49					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030088	95030088	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:95030088C>T	ENST00000557004.1	+	2	690	c.269C>T	c.(268-270)tCc>tTc	p.S90F	SERPINA4_ENST00000555095.1_Missense_Mutation_p.S90F|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.S90F			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	90					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GCCATGCTTTCCCTGGGGGCC	0.607000													10	33					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115223035	115223035	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:115223035C>T	ENST00000369538.3	-	5	746	c.699G>A	c.(697-699)ctG>ctA	p.L233L	AMPD1_ENST00000520113.2_Silent_p.L237L|AMPD1_ENST00000353928.6_Silent_p.L204L	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	204					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.L237L(1)|p.L204L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	GGTGATAGCCCAGGTTTTCAG	0.443000													26	116					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967736	106967736	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:106967736C>T	ENST00000369066.3	+	2	1916	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	477							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGGGGATGTTCCCAAAGACAC	0.483000													25	99					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60212694	60212694	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:60212694G>A	ENST00000267484.5	-	2	1082	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	249					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGTCCTTGATGATTTTTCCCT	0.428000													28	129					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107841957	107841957	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:107841957G>A	ENST00000328300.6	+	25	2049	c.1805G>A	c.(1804-1806)aGa>aAa	p.R602K	COL4A5_ENST00000361603.2_Missense_Mutation_p.R602K	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	602	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AAGGGTGAAAGAGGTCCCCCT	0.478000									Alport syndrome with Diffuse Leiomyomatosis				16	65					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51975487	51975487	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:51975487G>A	ENST00000220478.3	+	4	656	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	85					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACAGAAAAGGAAAAAATTGA	0.373000													33	131					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30138773	30138773	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:30138773G>A	ENST00000376694.4	+	6	1337	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	290	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GCATCATCTGGAAATAGATTC	0.428000													8	139					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146522	5146522	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:5146522G>A	ENST00000274181.7	+	3	593	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R152Q|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	152					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCTCTTTGCGATCACACAGA	0.537000													14	111					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130530648	130530648	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:130530648C>T	ENST00000532763.1	-	4	498	c.369G>A	c.(367-369)ttG>ttA	p.L123L	SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000457563.2_Silent_p.L149L|SAMD3_ENST00000439090.2_Silent_p.L125L|SAMD3_ENST00000368134.2_Silent_p.L125L|SAMD3_ENST00000437477.2_Silent_p.L125L|SAMD3_ENST00000324172.6_Silent_p.L125L			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	125										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACCTCTGTTTCAATACTCTTT	0.393000													7	23					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70886083	70886083	+	Silent	SNP	C	C	T	rs144050734		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:70886083C>T	ENST00000333538.5	+	5	1588	c.954C>T	c.(952-954)ctC>ctT	p.L318L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	318						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L318L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACCCTTCTCTCCCCATCAGGT	0.612000													3	37					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2836196	2836196	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:2836196C>T	ENST00000520002.1	-	56	9062	c.8507G>A	c.(8506-8508)gGa>gAa	p.G2836E	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2778E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2835E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2836E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2777E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2778E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2836	Sushi 20.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCTGAAGATCCCAGCAAGTA	0.478000													4	16					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102340892	102340892	+	Translation_Start_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:102340892G>A	ENST00000379787.4	+	0	2138				PAM_ENST00000346918.2_Missense_Mutation_p.D589N|PAM_ENST00000304400.7_Missense_Mutation_p.D589N|PAM_ENST00000438793.3_Missense_Mutation_p.D589N|PAM_ENST00000348126.2_Missense_Mutation_p.D482N|PAM_ENST00000455264.2_Missense_Mutation_p.D589N|PAM_ENST00000274392.9_Missense_Mutation_p.D492N			P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase						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)	TATAGATAAAGATGGGAATTA	0.348000													6	31					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777236	123777236	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123777236G>A	ENST00000321355.2	+	1	128	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		CTCTTCTTAGGAATTTACACA	0.423000													7	76					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24394468	24394468	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:24394468C>T	ENST00000330966.7	-	27	3512	c.3350G>A	c.(3349-3351)aGa>aAa	p.R1117K	MYOM3_ENST00000374434.3_Missense_Mutation_p.R1116K|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.R1116K|RP11-293P20.4_ENST00000429191.1_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1116										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)		ACCCTGTTTTCTCTTCCAGTC	0.532000													64	261					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102562710	102562710	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:102562710T>G	ENST00000260229.4	-	10	1420	c.1329A>C	c.(1327-1329)caA>caC	p.Q443H		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	443	Hemopexin-like 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CGTATTCAAATTGCTTTGATC	0.313000													5	27					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100595388	100595388	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:100595388C>T	ENST00000471714.1	-	7	843	c.734G>A	c.(733-735)aGg>aAg	p.R245K	ABI3BP_ENST00000284322.5_Missense_Mutation_p.R245K|ABI3BP_ENST00000495063.1_Missense_Mutation_p.R245K			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	245						extracellular space		p.R245T(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GATTAGTTTCCTTGGGACATA	0.363000													3	52					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414348	48414348	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:48414348C>T	ENST00000249598.1	-	2	679	c.520G>A	c.(520-522)Gat>Aat	p.D174N		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	174					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCCAGAACATCATAAATGACC	0.517000													4	28					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007660	6007660	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6007660C>T	ENST00000332249.4	-	1	555	c.501G>A	c.(499-501)ctG>ctA	p.L167L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	167					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)		ATCCCCTCACCAGCACCACCA	0.502000													8	67					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672439	186672439	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:186672439G>A	ENST00000343098.5	+	17	18673	c.18673G>A	c.(18673-18675)Gga>Aga	p.G6225R	FSIP2_ENST00000424728.1_Missense_Mutation_p.G6136R	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTATTTTTGTGGAGAGCTAAC	0.403000													10	86					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89943338	89943338	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:89943338G>A	ENST00000405460.2	+	17	3142	c.3046G>A	c.(3046-3048)Gaa>Aaa	p.E1016K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1016					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)		GAGGGTTCAGGAAGGTGAGAC	0.433000													4	51					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19256313	19256313	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:19256313G>A	ENST00000527884.1	-	5	976	c.744C>T	c.(742-744)ctC>ctT	p.L248L	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.L248L	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	248					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCACTCCAGGGAGTTCCACAA	0.448000													4	50					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92988028	92988028	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:92988028C>T	ENST00000268164.3	+	5	948	c.711C>T	c.(709-711)atC>atT	p.I237I	ST8SIA2_ENST00000539113.1_Silent_p.I216I	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	237					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.I237I(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			ATGGCAGCATCCTGTGGATCC	0.612000													6	35					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84459371	84459371	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:84459371G>A	ENST00000416219.2	+	11	1039	c.950G>A	c.(949-951)gGg>gAg	p.G317E	ATP2C2_ENST00000262429.4_Missense_Mutation_p.G317E|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	317					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.G317E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TGGTCGCAAGGGAAACAACTC	0.537000													9	183					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639094	179639094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179639094C>T	ENST00000589042.1	-	30	7121	c.6897G>A	c.(6895-6897)tgG>tgA	p.W2299*	TTN_ENST00000460472.2_Nonsense_Mutation_p.W2253*|TTN_ENST00000359218.5_Nonsense_Mutation_p.W2253*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W2299*|TTN_ENST00000360870.5_Nonsense_Mutation_p.W2299*|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W2253*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W2299*|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2015	Ig-like 12.						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)			CATTATGATACCATTTTCCTT	0.393000													15	48					0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34329811	34329811	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:34329811C>G	ENST00000522796.1	+	4	1924	c.19C>G	c.(19-21)Cta>Gta	p.L7V	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.L7V|HMGB4_ENST00000425537.1_Intron			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	7						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAAATCCAGCTAAAGCCTAA	0.408000													12	100					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958681	121958681	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:121958681C>T	ENST00000379692.4	-	4	971	c.445G>A	c.(445-447)Gat>Aat	p.D149N	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	149										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GAAAGAAGATCCAACTGATAT	0.408000													22	82					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30680634	30680634	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:30680634C>A	ENST00000376406.3	-	5	1732	c.1085G>T	c.(1084-1086)gGa>gTa	p.G362V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.G362V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	362	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GCCTGGTGCTCCAGGACCCCT	0.552000								Other conserved DNA damage response genes					16	94					4.14922e-12	4.20118e-12	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113376431	113376431	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:113376431G>A	ENST00000316407.4	-	7	4508	c.4098C>T	c.(4096-4098)acC>acT	p.T1366T	KIAA2018_ENST00000478658.1_Silent_p.T1366T|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1366					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTCAGAAATGGTGTCTGGAG	0.473000													18	53					0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2189824	2189824	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:2189824C>T	ENST00000381178.1	-	4	495	c.477G>A	c.(475-477)ctG>ctA	p.L159L	TH_ENST00000352909.3_Silent_p.L128L|TH_ENST00000333684.5_Silent_p.L132L|TH_ENST00000381175.1_Silent_p.L155L	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	159					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CGAAGTACTCCAGGTGGGGGC	0.672000													3	22					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38976650	38976650	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:38976650G>A	ENST00000359357.3	+	87	12878	c.12624G>A	c.(12622-12624)gaG>gaA	p.E4208E	DNAH8_ENST00000441566.1_Silent_p.E4172E					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACCCAAAGAGAGTGGAGGTG	0.418000													8	153					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118742	194118742	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:194118742G>A	ENST00000401815.1	-	1	341	c.270C>T	c.(268-270)gcC>gcT	p.A90A	GP5_ENST00000323007.3_Silent_p.A90A			P40197	GPV_HUMAN	glycoprotein V (platelet)	90					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AGGTGCCGGGGGCAACGGCGG	0.592000													35	102					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356609	10356609	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10356609C>T	ENST00000255381.2	-	24	3081	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	991					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						GCAATGGTTTCATCCAGACCT	0.463000													38	111					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17552625	17552625	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:17552625C>T	ENST00000375471.4	+	6	716	c.624C>T	c.(622-624)tcC>tcT	p.S208S		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	208					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TTTCTGATTCCAAAAGAGTGA	0.557000													24	84					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18828608	18828608	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:18828608G>A	ENST00000396576.2	+	13	2274	c.1773G>A	c.(1771-1773)cgG>cgA	p.R591R	CACNB2_ENST00000324631.7_Silent_p.R646R|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Silent_p.R598R|CACNB2_ENST00000352115.6_Silent_p.R622R|CACNB2_ENST00000282343.8_Silent_p.R618R|CACNB2_ENST00000377328.1_Silent_p.R396R|CACNB2_ENST00000377329.4_Silent_p.R592R|CACNB2_ENST00000377331.2_Silent_p.R594R|CACNB2_ENST00000377319.3_Silent_p.R553R	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	646					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAAAAAAACGGAATGAGGCTG	0.423000													17	71					0	0	1	0	0
NPRL3	8131	broad.mit.edu	37	16	142649	142649	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:142649G>A	ENST00000399953.3	-	10	1508	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.S190F	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	369							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						GACCGGCAAGGAGAACTTGGC	0.592000													7	20					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816286	6816286	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:6816286G>A	ENST00000332601.3	-	1	842	c.654C>T	c.(652-654)gtC>gtT	p.V218V		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGCCCCAGTGACAGAGAGTG	0.502000													21	113					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712163	121712163	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121712163G>A	ENST00000273691.3	-	6	1406	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	ILDR1_ENST00000344209.5_Missense_Mutation_p.S478F|ILDR1_ENST00000393631.1_Missense_Mutation_p.S389F|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.S446F	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	478	Arg-rich.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		AGAGCTCCAGGAACTGAGGCC	0.711000													4	35					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114276850	114276850	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:114276850C>T	ENST00000357077.4	+	38	7129	c.7076C>T	c.(7075-7077)tCa>tTa	p.S2359L	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2326L|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2326					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTTGGTAGTTCAGCCCACAAG	0.502000													10	48					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94543278	94543278	+	Missense_Mutation	SNP	G	G	A	rs138157885	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94543278G>A	ENST00000370225.3	-	11	1608	c.1522C>T	c.(1522-1524)Cgc>Tgc	p.R508C	ABCA4_ENST00000535735.1_Missense_Mutation_p.R508C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	508					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CGGAGGGTGCGATCAGTGATG	0.567000													17	97					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17415870	17415870	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:17415870C>T	ENST00000380647.3	+	17	2965	c.2881C>T	c.(2881-2883)Cct>Tct	p.P961S	CNTLN_ENST00000262360.5_Missense_Mutation_p.P961S|CNTLN_ENST00000425824.1_Missense_Mutation_p.P961S			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	961						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TACAGCAGTTCCTACTAGAGG	0.264000													3	37					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555132	44555132	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:44555132G>A	ENST00000330682.2	-	1	1317	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	361	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.S361L(1)|p.S361*(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTCAAGAACCGAGTAGGGGAC	0.627000													9	1006					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55519266	55519266	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:55519266C>T	ENST00000219070.4	+	4	1094	c.585C>T	c.(583-585)ttC>ttT	p.F195F	MMP2_ENST00000437642.2_Silent_p.F145F|MMP2_ENST00000570308.1_Silent_p.F119F|MMP2_ENST00000543485.1_Silent_p.F119F	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	195	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CTCATGCCTTCGCCCCAGGCA	0.577000													8	84					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236221	42236221	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:42236221G>A	ENST00000541110.1	-	5	1676	c.1108C>T	c.(1108-1110)Ccc>Tcc	p.P370S	TRERF1_ENST00000372917.4_Missense_Mutation_p.P370S|TRERF1_ENST00000372922.4_Missense_Mutation_p.P370S|TRERF1_ENST00000354325.2_Missense_Mutation_p.P370S|TRERF1_ENST00000340840.2_Missense_Mutation_p.P370S			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	370	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAGCCCAGGGGAATCAGCTGG	0.607000													17	164					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44174915	44174915	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:44174915C>T	ENST00000260665.7	-	19	1978		c.e19-1			NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing						mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGTGAGCATCCTAAAATTGAA	0.299000													3	25					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91660736	91660736	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:91660736C>T	ENST00000375835.4	-	9	1432	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	376	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TAAGTCTGCTCTTTTCCTGCA	0.423000													9	51					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189507602	189507602	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:189507602G>A	ENST00000354600.5	+	1	154	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	TP63_ENST00000264731.3_Intron|TP63_ENST00000392461.3_Missense_Mutation_p.E5K|TP63_ENST00000440651.2_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.E5K|TP63_ENST00000418709.2_Intron|TP63_ENST00000456148.1_Missense_Mutation_p.E5K|TP63_ENST00000449992.1_Missense_Mutation_p.E5K|TP63_ENST00000392463.2_Missense_Mutation_p.E5K|TP63_ENST00000320472.5_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000392460.3_Intron	NM_001114980.1|NM_001114981.1	NP_001108452.1|NP_001108453.1	Q9H3D4	P63_HUMAN	tumor protein p63	0	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GTTGTACCTGGAAAACAATGC	0.388000										HNSCC(45;0.13)			4	13					0	0	1	0	0
GTF2H4	2968	broad.mit.edu	37	6	30877808	30877808	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:30877808C>T	ENST00000259895.4	+	4	565	c.342C>T	c.(340-342)ttC>ttT	p.F114F	GTF2H4_ENST00000376316.2_Silent_p.F114F|GTF2H4_ENST00000539324.1_Silent_p.F58F	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	114					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACCCCATTTTCCGCCAGAACC	0.572000								Nucleotide excision repair (NER)					14	177					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4928890	4928890	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4928890C>T	ENST00000359350.4	+	1	291	c.291C>T	c.(289-291)tgC>tgT	p.C97C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTAATGCCTGCTTTGCTCAAG	0.453000													15	92					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85559244	85559244	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:85559244C>T	ENST00000294664.6	+	9	1141	c.961C>T	c.(961-963)Cac>Tac	p.H321Y	WDR63_ENST00000370596.1_Missense_Mutation_p.H282Y|WDR63_ENST00000326813.8_Missense_Mutation_p.H282Y	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	321										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GACCGATACCCACCTGAAAGA	0.438000													27	110					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50342258	50342258	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:50342258C>T	ENST00000394697.2	+	16	2211	c.1871C>T	c.(1870-1872)tCc>tTc	p.S624F	ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000566433.2_Missense_Mutation_p.S624F|ADCY7_ENST00000538642.1_Missense_Mutation_p.S624F|ADCY7_ENST00000254235.3_Missense_Mutation_p.S624F			P51828	ADCY7_HUMAN	adenylate cyclase 7	624					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CTGGGTGTGTCCTTCGGGCTG	0.662000													18	102					0	0	1	0	0
CYBRD1	79901	broad.mit.edu	37	2	172398102	172398102	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:172398102C>T	ENST00000321348.4	+	2	399	c.201C>T	c.(199-201)atC>atT	p.I67I	CYBRD1_ENST00000409484.1_Silent_p.I9I|CYBRD1_ENST00000468308.1_3'UTR|CYBRD1_ENST00000375252.3_Intron	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	67	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						TAGCCATCATCGTCTACAGAC	0.428000													6	50					0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39135199	39135199	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39135199G>A	ENST00000377755.4	-	6	1087	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	KRT40_ENST00000398486.2_Silent_p.I351I			Q6A162	K1C40_HUMAN	keratin 40	351	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CCAGGTTATCGATCAGACACT	0.592000													4	84					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103326776	103326776	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:103326776C>T	ENST00000376052.3	+	28	3531	c.3515C>T	c.(3514-3516)cCt>cTt	p.P1172L	TPP2_ENST00000376065.4_Missense_Mutation_p.P1159L|TPP2_ENST00000466153.1_3'UTR			P29144	TPP2_HUMAN	tripeptidyl peptidase II	1159					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAGAAAGTCCTTTGGATTCT	0.453000													4	61					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683532	6683532	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:6683532C>T	ENST00000321535.4	+	2	475	c.345C>T	c.(343-345)ctC>ctT	p.L115L		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	115										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGCGGGGCCTCCTGTCTTGTC	0.488000													21	75					0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74309914	74309914	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:74309914G>A	ENST00000446526.3	-	8	1285	c.840C>T	c.(838-840)atC>atT	p.I280I	PRPSAP1_ENST00000324684.4_Silent_p.I177I	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	251					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CGATGATTGCGATGCGGCCTC	0.458000													6	44					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82447657	82447657	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:82447657G>A	ENST00000370728.1	+	21	3912	c.3267G>A	c.(3265-3267)aaG>aaA	p.K1089K	LPHN2_ENST00000370727.1_Silent_p.K1104K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Silent_p.K1076K|LPHN2_ENST00000271029.4_Silent_p.K1104K|LPHN2_ENST00000394879.1_Silent_p.K1091K|LPHN2_ENST00000370730.1_Silent_p.K1089K|LPHN2_ENST00000319517.6_Silent_p.K1076K|LPHN2_ENST00000370717.2_Silent_p.K1104K|LPHN2_ENST00000370725.1_Silent_p.K1104K|LPHN2_ENST00000335786.5_Silent_p.K1089K|LPHN2_ENST00000359929.3_Silent_p.K1076K|LPHN2_ENST00000370721.1_Silent_p.K1014K|LPHN2_ENST00000370723.1_Silent_p.K1091K|LPHN2_ENST00000370715.1_Silent_p.K1076K			O95490	LPHN2_HUMAN	latrophilin 2	1089					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)		CTCTCCAAAAGAAAGTAAGTA	0.313000													4	48					0	0	1	0	0
MURC	347273	broad.mit.edu	37	9	103348477	103348477	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:103348477G>A	ENST00000307584.5	+	2	904	c.839G>A	c.(838-840)cGa>cAa	p.R280Q		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	280					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				GGTAAGGACCGAACAGTGGCT	0.517000													15	77					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146067419	146067419	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:146067419G>A	ENST00000454497.2	-	14	1364	c.1227_splice	c.e14+1	p.S409_splice	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Splice_Site_p.S474_splice	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	473							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TCATACATACGGAAAGGGCTG	0.373000													4	33					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862969	67862969	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:67862969C>T	ENST00000433211.1	-	14	2097	c.1923G>A	c.(1921-1923)gaG>gaA	p.E641E	CTNNA3_ENST00000373744.4_Silent_p.E641E	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	641					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCTCGTGTTCCTCTTCAAGGT	0.443000													4	41					0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75425860	75425860	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:75425860C>T	ENST00000305249.4	-	1	966	c.201G>A	c.(199-201)acG>acA	p.T67T	TACR1_ENST00000409848.3_Silent_p.T67T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	67					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GAAAATAGTTCGTCACTGTCC	0.512000													6	33					0	0	1	0	0
SLC35D1	23169	broad.mit.edu	37	1	67519626	67519626	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:67519626C>T	ENST00000235345.5	-	1	156	c.71G>A	c.(70-72)cGa>cAa	p.R24Q		NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	24					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	CTCCTCATCTCGGAGTGTGGA	0.632000													8	40					0	0	1	0	0
ITFG1	81533	broad.mit.edu	37	16	47195664	47195664	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:47195664C>T	ENST00000320640.6	-	16	1886	c.1658G>A	c.(1657-1659)cGa>cAa	p.R553Q	RP11-329J18.2_ENST00000565694.1_RNA|RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_Missense_Mutation_p.R440Q|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	553						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				ACATTACCTTCGAGGGACATT	0.388000													10	75					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133053349	133053349	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:133053349G>A	ENST00000262283.5	-	9	1086	c.987C>T	c.(985-987)ctC>ctT	p.L329L	OC90_ENST00000254627.3_Silent_p.L133L|OC90_ENST00000443356.2_Silent_p.L133L|OC90_ENST00000603859.1_Silent_p.L133L			Q02509	OC90_HUMAN	otoconin 90	133	Phospholipase A2-like 2.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CGGGGTCTTGGAGACAGTCCA	0.572000													10	79					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884261	228884261	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:228884261C>T	ENST00000392056.3	-	7	1355	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D437N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	437						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)		ACCACTGTATCTTTTGTGGAA	0.473000													7	72					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649312	47649312	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:47649312C>T	ENST00000398742.2	+	5	862	c.813C>T	c.(811-813)gtC>gtT	p.V271V	GPR111_ENST00000507065.1_Silent_p.V271V|GPR111_ENST00000296862.1_Silent_p.V339V			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	339					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTTCTCAGGTCATCAGCATTG	0.438000													18	123					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6214928	6214928	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:6214928G>A	ENST00000262450.3	-	5	636	c.537C>T	c.(535-537)atC>atT	p.I179I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	179					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGACATGGGGATCTTCGGGT	0.657000													15	69					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72828490	72828490	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:72828490C>T	ENST00000268489.5	-	9	8763	c.8091G>A	c.(8089-8091)agG>agA	p.R2697R	ZFHX3_ENST00000397992.5_Silent_p.R1783R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2697					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACTGTCCTTTCCTTTCCCGAG	0.542000													10	87					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552339	100552339	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:100552339G>A	ENST00000319509.7	+	1	1090	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTTTACTACCGAAATGGTCAC	0.478000													96	290					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502663	20502663	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20502663G>A	ENST00000315693.2	-	1	256	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	85					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)		GTTCTCGGAGGAAATCTACAA	0.458000													13	49					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75685015	75685015	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:75685015G>A	ENST00000370855.5	-	16	1306	c.1193C>T	c.(1192-1194)tCg>tTg	p.S398L	SLC44A5_ENST00000535611.1_Missense_Mutation_p.S268L|SLC44A5_ENST00000370859.3_Missense_Mutation_p.S398L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	398						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.S398*(2)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGGTACCCCCGATGTCGCCAA	0.388000													17	50					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086638	56086638	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56086638C>T	ENST00000312711.1	+	1	856	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	286					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)					CATGTTGAATCCCTTGATCTA	0.353000													3	24					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212426678	212426678	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:212426678C>T	ENST00000342788.4	-	20	2747	c.2437G>A	c.(2437-2439)Gat>Aat	p.D813N	ERBB4_ENST00000402597.1_Missense_Mutation_p.D803N|ERBB4_ENST00000436443.1_Missense_Mutation_p.D813N	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	813	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCAATGTTATCCTTGTGCTCG	0.458000										TSP Lung(8;0.080)			11	100					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681990	55681990	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55681990C>T	ENST00000344514.1	-	1	68	c.69G>A	c.(67-69)atG>atA	p.M23I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGGTCACTTTCATCTCTGGGT	0.348000													6	56					0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49261258	49261258	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49261258C>T	ENST00000593756.1	+	4	983	c.411C>T	c.(409-411)tcC>tcT	p.S137S	FGF21_ENST00000222157.3_Silent_p.S137S			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	137					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTTACCAGTCCGAAGCCCACG	0.617000													22	189					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48660350	48660350	+	Silent	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:48660350T>A	ENST00000263274.7	-	5	710	c.291A>T	c.(289-291)acA>acT	p.T97T	LIG1_ENST00000599165.1_Intron|LIG1_ENST00000536218.1_Silent_p.T97T|LIG1_ENST00000427526.2_Silent_p.T67T	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	97					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TCTCAGGAGATGTGGCAGGAC	0.592000								Nucleotide excision repair (NER)					34	197					0	0	1	0	0
MUL1	79594	broad.mit.edu	37	1	20827741	20827741	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:20827741G>A	ENST00000264198.3	-	4	637	c.501C>T	c.(499-501)acC>acT	p.T167T		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	167					activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CGATGACATCGGTGAAGGACT	0.592000													16	120					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54142288	54142288	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:54142288G>A	ENST00000265572.3	-	4	1009	c.712C>T	c.(712-714)Cct>Tct	p.P238S	OPRK1_ENST00000520287.1_Missense_Mutation_p.P238S|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.P149S	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	238					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ATGAGGACAGGGATCACGAAG	0.532000													7	50					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338859	19338859	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:19338859C>T	ENST00000252575.5	+	8	2473	c.2430C>T	c.(2428-2430)gtC>gtT	p.V810V	NCAN_ENST00000538881.1_Silent_p.V261V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	810					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TACCCAAAGTCACCCCAAATT	0.572000													7	67					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75086533	75086533	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:75086533C>T	ENST00000326665.5	-	8	1103	c.885G>A	c.(883-885)ggG>ggA	p.G295G	C1orf173_ENST00000420661.2_Silent_p.G98G|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	295								p.G295G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCACATTTTTCCCCAAATAGA	0.363000													10	57					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46307613	46307613	+	Silent	SNP	G	G	A	rs149579519		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:46307613G>A	ENST00000510861.1	-	7	848	c.675C>T	c.(673-675)atC>atT	p.I225I	GABRA2_ENST00000540012.1_Silent_p.I170I|GABRA2_ENST00000514090.1_Silent_p.I225I|GABRA2_ENST00000356504.1_Silent_p.I225I|GABRA2_ENST00000381620.4_Silent_p.I225I|GABRA2_ENST00000515082.1_Silent_p.I225I|GABRA2_ENST00000507069.1_Silent_p.I225I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	225					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTCCTTTCCGATTGATTGGC	0.383000													4	27					0	0	1	0	0
ARRDC2	27106	broad.mit.edu	37	19	18121490	18121490	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:18121490C>T	ENST00000222250.4	+	7	1265	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	ARRDC2_ENST00000379656.2_Silent_p.F369F	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	374										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GCCCGTTCTTCGCCTACATCC	0.642000													5	73					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320676	52320676	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:52320676C>T	ENST00000356297.4	-	17	3608	c.3508G>A	c.(3508-3510)Gat>Aat	p.D1170N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D1170N	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1170					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTTTGAAGATCCTCAAAGTTC	0.373000													4	48					0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678517	37678517	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:37678517C>T	ENST00000379800.3	-	1	1286	c.877G>A	c.(877-879)Gac>Aac	p.D293N		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	293					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AATGTGTAGTCATATTGGTGG	0.512000													8	73					0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104874042	104874042	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:104874042G>A	ENST00000393141.2	-	4	572	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C	CASP5_ENST00000418434.1_Missense_Mutation_p.R26C|CASP5_ENST00000531367.1_Missense_Mutation_p.R26C|CASP5_ENST00000526056.1_Missense_Mutation_p.R181C|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000260315.3_Missense_Mutation_p.R168C|CASP5_ENST00000444749.2_Missense_Mutation_p.R110C	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	168					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AATTCTTCACGAGGACAAAGT	0.383000													19	98					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41561099	41561099	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:41561099C>T	ENST00000400454.1	-	12	2900	c.2423G>A	c.(2422-2424)aGc>aAc	p.S808N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	808	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGCCGTGCAGCTCATCTCCTT	0.507000													19	78					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54327202	54327202	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:54327202G>A	ENST00000324134.6	-	1	395	c.227C>T	c.(226-228)aCc>aTc	p.T76I	NLRP12_ENST00000391775.3_Missense_Mutation_p.T76I|NLRP12_ENST00000354278.3_Missense_Mutation_p.T76I|NLRP12_ENST00000345770.5_Missense_Mutation_p.T76I|NLRP12_ENST00000391772.1_Missense_Mutation_p.T76I|NLRP12_ENST00000351894.4_Missense_Mutation_p.T76I|NLRP12_ENST00000391773.1_Missense_Mutation_p.T76I|NLRP12_ENST00000535162.1_Missense_Mutation_p.T76I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	76	DAPIN.				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			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)		CCGCTCAAAGGTGCTGAGAGC	0.612000													9	137					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810973	123810973	+	Missense_Mutation	SNP	C	C	T	rs138187932		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123810973C>T	ENST00000307033.2	+	1	724	c.650C>T	c.(649-651)tCg>tTg	p.S217L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTTCTGGGATCGTACACAGCA	0.517000													10	158					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2841187	2841187	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:2841187C>T	ENST00000380445.3	+	5	534	c.462C>T	c.(460-462)acC>acT	p.T154T	VPS16_ENST00000380469.3_Silent_p.T154T	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	154					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						ACCGCTTCACCCTCAGTGCCA	0.592000													5	45					0	0	1	0	0
LY6G6C	80740	broad.mit.edu	37	6	31687068	31687068	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31687068G>A	ENST00000375819.2	-	3	348	c.183C>T	c.(181-183)tcC>tcT	p.S61S	LY6G6C_ENST00000495859.1_Silent_p.S5S	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	61	UPAR/Ly6.					anchored to membrane|plasma membrane				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						AGCGCAGATTGGAGAAAACCC	0.587000													4	93					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158494544	158494544	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:158494544A>G	ENST00000409339.3	-	2	160	c.47T>C	c.(46-48)gTt>gCt	p.V16A	NCAPG2_ENST00000409423.1_Missense_Mutation_p.V16A|NCAPG2_ENST00000449727.2_Missense_Mutation_p.V16A|NCAPG2_ENST00000356309.3_Missense_Mutation_p.V16A			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	16					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AAACTCTCCAACCAGCTCCTT	0.343000													6	86					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382583	22382583	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:22382583C>T	ENST00000328795.4	+	1	202	c.111C>T	c.(109-111)atC>atT	p.I37I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTACCTTATCATCCTCCCTG	0.433000													29	265					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132045206	132045206	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:132045206G>A	ENST00000414305.1	+	20	2101	c.1773G>A	c.(1771-1773)caG>caA	p.Q591Q	ENPP3_ENST00000357639.3_Silent_p.Q591Q|ENPP3_ENST00000358229.5_Silent_p.Q591Q			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	591					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AAGTGAATCAGATGCTAAATC	0.373000													12	31					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378313	31378313	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:31378313C>A	ENST00000297142.3	-	2	892	c.570G>T	c.(568-570)atG>atT	p.M190I		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	190					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CACCCTGACCCATCAGGAAAC	0.562000													7	73					5.18039e-06	5.2242e-06	1	1	0
LUM	4060	broad.mit.edu	37	12	91502729	91502729	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:91502729G>A	ENST00000266718.4	-	2	482	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	10					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						ATCAATGCCAGGAAGAGAGTA	0.333000													4	39					0	0	1	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364228	142364228	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142364228C>T	ENST00000390397.2	+	0	31																											CCTGCCTCTTCATGCCATGGC	0.498000													3	13					0	0	1	0	0
MDFI	4188	broad.mit.edu	37	6	41621285	41621285	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:41621285A>G	ENST00000373050.4	+	4	717	c.530A>G	c.(529-531)gAg>gGg	p.E177G				Q99750	MDFI_HUMAN	MyoD family inhibitor	238	Cys-rich.				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ATCTGCATGGAGTGCTGTGGG	0.677000													9	137					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17542914	17542914	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:17542914C>T	ENST00000005226.7	-	13	1063	c.1064G>A	c.(1063-1065)aGa>aAa	p.R355K	USH1C_ENST00000527720.1_Missense_Mutation_p.R324K|USH1C_ENST00000527020.1_Missense_Mutation_p.R336K|USH1C_ENST00000318024.4_Missense_Mutation_p.R355K	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	355					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTTCCGGTATCTCTCATTTTC	0.502000													14	165					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218268	130218268	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:130218268C>T	ENST00000276211.5	+	5	980	c.635C>T	c.(634-636)tCc>tTc	p.S212F	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.S76F|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S200F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	212					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S212F(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TCAAAAATTTCCTTTCCAATT	0.498000													11	21					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003608	50003608	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:50003608C>T	ENST00000335238.4	-	1	463	c.430G>A	c.(430-432)Gca>Aca	p.A144T		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CAGGCCACTGCCACCAGGAGA	0.512000													30	182					0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110968173	110968173	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:110968173C>T	ENST00000394780.3	+	15	1625	c.1613C>T	c.(1612-1614)cCa>cTa	p.P538L	ALG13_ENST00000251943.4_Missense_Mutation_p.P434L	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	538	Tudor.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CATGTTGTTCCACTGGCTAAC	0.433000													22	48					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132535265	132535265	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:132535265G>A	ENST00000265342.7	-	16	2300	c.2051C>T	c.(2050-2052)cCc>cTc	p.P684L	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	684						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCACCATTGGGGCCAAGCAC	0.617000													4	73					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69871315	69871315	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:69871315C>T	ENST00000395889.2	-	18	1668	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S	TEX11_ENST00000344304.3_Missense_Mutation_p.G505S|TEX11_ENST00000374333.2_Missense_Mutation_p.G490S|TEX11_ENST00000374320.2_Missense_Mutation_p.G180S	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	505							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCAGAGTTGCCCTCTATGACT	0.353000													7	16					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80631488	80631488	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:80631488A>T	ENST00000369816.4	-	4	695	c.395T>A	c.(394-396)tTt>tAt	p.F132Y		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	132					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)	TTTAGATACAAAGTACCACCA	0.358000													5	35					0	0	1	0	0
HVCN1	84329	broad.mit.edu	37	12	111099079	111099079	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:111099079C>T	ENST00000356742.5	-	3	949	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	HVCN1_ENST00000242607.8_Missense_Mutation_p.E66K|HVCN1_ENST00000439744.2_Missense_Mutation_p.E46K|HVCN1_ENST00000548312.1_Missense_Mutation_p.E66K			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	66					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GCTCTGCCTTCCTCGCCTGAG	0.607000													7	52					0	0	1	0	0
C6orf201	404220	broad.mit.edu	37	6	4099316	4099316	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:4099316G>A	ENST00000380175.4	+	3	933	c.168G>A	c.(166-168)ccG>ccA	p.P56P	C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Silent_p.P59P|C6orf201_ENST00000430835.2_Silent_p.P56P	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	56										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCCCAAAGCCGAACAGAATGC	0.418000													14	61					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77797366	77797366	+	Silent	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:77797366T>G	ENST00000354212.4	-	15	2716	c.2463A>C	c.(2461-2463)ccA>ccC	p.P821P	MAGI2_ENST00000419488.1_Silent_p.P807P|MAGI2_ENST00000522391.1_Silent_p.P821P	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	821	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCTCATCTCCTGGGTGAAGGC	0.522000													24	78					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382280	41382280	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:41382280G>A	ENST00000377801.3	-	2	534	c.460C>T	c.(460-462)Cac>Tac	p.H154Y	PLCXD3_ENST00000328457.3_Missense_Mutation_p.H154Y			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	154	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTTTCATGGTGATATTTCTGC	0.413000													15	154					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179457754	179457754	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179457754C>T	ENST00000589042.1	-	300	59316	c.59092G>A	c.(59092-59094)Gat>Aat	p.D19698N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10633N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10758N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D18057N|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10825N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17130N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18057	Fibronectin type-III 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)			CAAGTTAGATCGACTGAATTG	0.393000													10	94					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037670	75037670	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:75037670C>T	ENST00000326665.5	-	14	3942	c.3724G>A	c.(3724-3726)Gag>Aag	p.E1242K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1242	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTGCTAGCTCCTCTGCCTGG	0.627000													20	87					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175392	51175392	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:51175392G>A	ENST00000440970.1	-	2	881	c.450C>T	c.(448-450)atC>atT	p.I150I	SALL1_ENST00000251020.4_Silent_p.I247I|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	247	Poly-Ser.		Missing.|S -> SS.		adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I247I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAATCTGTTCGATCAATTGCA	0.542000													12	102					0	0	1	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271330	26271330	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:26271330C>T	ENST00000305910.3	-	1	282	c.283G>A	c.(283-285)Gag>Aag	p.E95K		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	95					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						TCGCAGGCCTCCTGCAGGGCC	0.567000													9	141					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21236260	21236260	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21236260G>A	ENST00000233242.1	-	25	4115	c.3988C>T	c.(3988-3990)Ctg>Ttg	p.L1330L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1330					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGAGATGGCAGATGGAATCCC	0.473000													7	91					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413431	124413431	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:124413431C>T	ENST00000306842.2	-	1	144	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGCCCAGGTTCCCCACCACGG	0.502000													12	53					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770889	53770889	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:53770889C>T	ENST00000311170.4	-	1	83	c.30G>A	c.(28-30)atG>atA	p.M10I		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	10					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GTGATAAGATCATTCCCACTG	0.517000										HNSCC(26;0.072)			12	74					0	0	1	0	0
EMC10	284361	broad.mit.edu	37	19	50984165	50984165	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:50984165G>A	ENST00000376918.3	+	6	655	c.609G>A	c.(607-609)gaG>gaA	p.E203E	CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000334976.6_Silent_p.E203E|EMC10_ENST00000598585.1_Silent_p.E203E	NM_175063.4	NP_778233.4			ER membrane protein complex subunit 10																		CCTTCATTGAGCGCCTGGAGA	0.652000													11	53					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46107323	46107323	+	Translation_Start_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:46107323G>A	ENST00000321037.4	+	2	233	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	1						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TGTTCATTATGAAGTTATTAG	0.318000													20	29					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346753	48346753	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:48346753C>T	ENST00000319856.4	+	1	282	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTATTTTTTCCTGGCCAACC	0.453000													7	88					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61225600	61225600	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61225600G>A	ENST00000382768.1	+	2	184	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	SERPINB12_ENST00000269491.1_Missense_Mutation_p.E62K			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	62					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						ACACTTCAACGAATTTTCCCA	0.418000													18	81					0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55266738	55266738	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:55266738G>A	ENST00000371276.4	-	1	202	c.99C>T	c.(97-99)ttC>ttT	p.F33F	TTC22_ENST00000371274.4_Silent_p.F33F	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	33							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						AGCGCGGCTCGAAGTTCAACT	0.706000													12	42					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6377611	6377611	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:6377611C>T	ENST00000335585.5	-	4	405	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	PPP2R2C_ENST00000515571.1_Missense_Mutation_p.E111K|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.E121K|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.E128K|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.E121K	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	128					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.E128K(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TTGTATCCTTCGGGCCTTTTA	0.463000													28	89					0	0	1	0	0
ACER3	55331	broad.mit.edu	37	11	76701612	76701612	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:76701612C>T	ENST00000532485.1	+	6	536	c.432C>T	c.(430-432)ttC>ttT	p.F144F	ACER3_ENST00000526597.1_Silent_p.F49F|ACER3_ENST00000533873.1_Silent_p.F107F|ACER3_ENST00000530182.1_3'UTR|ACER3_ENST00000538157.1_Silent_p.F102F	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	144					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						AGCCGATATTCCATCAGGTAA	0.318000													16	99					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26098178	26098178	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:26098178G>A	ENST00000374332.4	+	8	1502	c.1172G>A	c.(1171-1173)aGt>aAt	p.S391N	MAN1C1_ENST00000374329.1_Missense_Mutation_p.S162N|MAN1C1_ENST00000263979.3_Missense_Mutation_p.S211N	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	391					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CTCGGGGACAGTTTTTATGAA	0.498000													14	109					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50208263	50208263	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:50208263G>A	ENST00000392518.4	+	9	1143		c.e9-1		CPT1C_ENST00000598293.1_Splice_Site|CPT1C_ENST00000405931.2_Intron|CPT1C_ENST00000323446.5_Splice_Site|CPT1C_ENST00000354199.5_Splice_Site	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C						fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTGGTCCCCAGGACTTCCTGT	0.622000													11	38					0	0	1	0	0
LANCL3	347404	broad.mit.edu	37	X	37515009	37515009	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:37515009A>G	ENST00000378621.3	+	2	944	c.642A>G	c.(640-642)atA>atG	p.I214M	LANCL3_ENST00000378619.3_Missense_Mutation_p.I214M|TM4SF2_ENST00000465127.1_Intron	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	214							catalytic activity			lung(4)|pancreas(1)	5						AGTATGCCATAAAGAAGAGGA	0.443000													13	20					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133313584	133313584	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:133313584G>A	ENST00000539605.1	-	7	7986	c.1302C>T	c.(1300-1302)tcC>tcT	p.S434S	ANKLE2_ENST00000357997.5_Silent_p.S496S|ANKLE2_ENST00000337516.5_Silent_p.S496S			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	496						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCTGGTCTGGGGACCACAGCT	0.642000													7	81					0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	603796	603796	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:603796C>T	ENST00000251287.2	+	2	938	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	295					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGGTGGACTTCGTGTCCTCCA	0.567000													6	40					0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75517458	75517458	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:75517458C>T	ENST00000318622.4	+	5	1092	c.463C>T	c.(463-465)Ccg>Tcg	p.P155S	RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000006777.6_Missense_Mutation_p.P296S|RHBDD2_ENST00000428119.1_Missense_Mutation_p.P155S	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	296						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						CACCTTGCCTCCGTACCAGCC	0.662000													16	161					0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19813439	19813439	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:19813439C>T	ENST00000311322.8	+	6	1333	c.863C>T	c.(862-864)gCc>gTc	p.A288V		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	288			A -> T (associated with LPL deficiency; the LPL mass level is approximately 67% of the normal; the activity is 32% of the nornal; dbSNP:rs1800011).		fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CCAAGTAAGGCCTACAGGTGC	0.463000													8	87					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48809342	48809342	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:48809342G>A	ENST00000309835.3	+	1	1580	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D524N|STON1_ENST00000406226.1_Missense_Mutation_p.D524N|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D524N|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D524N|STON1_ENST00000404752.1_Missense_Mutation_p.D524N|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.D524N|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D524N					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTATAATGGGGATAATCTTCC	0.443000													19	83					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216258	20216258	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20216258C>T	ENST00000331723.1	+	1	672	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCATCCTGATCACCCTGAGAA	0.498000													10	105					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27640069	27640069	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:27640069C>T	ENST00000261588.4	+	4	247	c.228C>T	c.(226-228)gcC>gcT	p.A76A		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	76										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCAACGGTGCCAATTCGGAGC	0.512000													13	131					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141113970	141113970	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:141113970G>A	ENST00000389484.3	-	75	12442	c.11471C>T	c.(11470-11472)tCt>tTt	p.S3824F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3824	EGF-like 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGAAAACAGATGTTTTTAT	0.338000										TSP Lung(27;0.18)			11	46					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193052803	193052803	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:193052803C>T	ENST00000342358.4	-	10	1146	c.1029G>A	c.(1027-1029)agG>agA	p.R343R		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	343					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)		GGACGTGTTTCCTATAATCCT	0.463000													20	92					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207408038	207408038	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:207408038G>A	ENST00000264377.3	+	6	1046	c.718G>A	c.(718-720)Gag>Aag	p.E240K	ADAM23_ENST00000374416.1_Missense_Mutation_p.E240K|ADAM23_ENST00000374415.3_Missense_Mutation_p.E240K	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	240					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGTTCATGATGAGGTGAGTCT	0.418000													5	36					0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983739	97983739	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:97983739C>T	ENST00000383696.2	+	1	652	c.611C>T	c.(610-612)tCc>tTc	p.S204F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTAAAGATTTCCTGTACTGAT	0.299000													4	20					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96741069	96741069	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:96741069C>T	ENST00000260682.6	+	7	1103	c.1091C>T	c.(1090-1092)aCc>aTc	p.T364I		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	364					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CTTCTCCCCACCAGCCTGCCC	0.502000													25	116					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371073	240371073	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:240371073C>T	ENST00000319653.9	+	5	3191	c.2961C>T	c.(2959-2961)ccC>ccT	p.P987P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	987	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGGCATACCCCCTCCTCCCC	0.716000													9	23					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1536468	1536468	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:1536468G>A	ENST00000440447.2	-	3	535	c.464C>T	c.(463-465)tCc>tTc	p.S155F	PTX4_ENST00000447419.2_Silent_p.V303V|PTX4_ENST00000293922.1_Silent_p.V298V			Q96A99	PTX4_HUMAN	pentraxin 4, long	241						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AGGCCGTGCGGACCCAGCTGC	0.662000													4	66					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39881163	39881163	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:39881163G>A	ENST00000260356.5	+	11	1814	c.1649G>A	c.(1648-1650)gGa>gAa	p.G550E		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	550	EGF-like 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GTCTCAGATGGATGCCTGTCC	0.502000													38	206					0	0	1	0	0
UGT1A9	54600	broad.mit.edu	37	2	234580813	234580813	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:234580813C>T	ENST00000354728.4	+	1	315	c.233C>T	c.(232-234)tCa>tTa	p.S78L	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		AAGACTTATTCAACTTCATAT	0.458000													11	94					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113554885	113554885	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:113554885C>T	ENST00000546530.1	-	9	1009	c.724G>A	c.(724-726)Gat>Aat	p.D242N	RASAL1_ENST00000548055.1_Missense_Mutation_p.D242N|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.D242N|RASAL1_ENST00000261729.5_Missense_Mutation_p.D242N	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	242					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TACCCAGAATCCTCCTCGGCT	0.602000													4	41					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112903485	112903485	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:112903485G>A	ENST00000161863.4	+	23	3396	c.3183G>A	c.(3181-3183)ttG>ttA	p.L1061L		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1061							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TCACTATATTGGTATTCTGTG	0.378000													7	55					0	0	1	0	0
ALKBH3	221120	broad.mit.edu	37	11	43923211	43923211	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:43923211C>T	ENST00000302708.4	+	8	1016	c.605C>T	c.(604-606)cCc>cTc	p.P202L	ALKBH3_ENST00000532410.1_Intron	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	202	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GGGAGGTGCCCCATTATTGCT	0.478000								Direct reversal of damage					7	37					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12938027	12938027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:12938027C>T	ENST00000218032.6	+	2	955	c.868C>T	c.(868-870)Cga>Tga	p.R290*	TLR8_ENST00000311912.5_Nonsense_Mutation_p.R308*	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	290					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GACCCAACTTCGATACCTAAA	0.423000													12	45					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1049337	1049337	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:1049337G>A	ENST00000263094.6	+	18	2684	c.2453G>A	c.(2452-2454)gGa>gAa	p.G818E	ABCA7_ENST00000433129.1_Missense_Mutation_p.G818E|ABCA7_ENST00000435683.2_Missense_Mutation_p.G680E	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	818	ABC transporter 1.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CGCTTTCCTGGAAGCCCGCAG	0.672000													12	92					0	0	1	0	0
DOHH	83475	broad.mit.edu	37	19	3496711	3496711	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:3496711G>A	ENST00000427575.1	-	2	553	c.102C>T	c.(100-102)ctC>ctT	p.L34L	DOHH_ENST00000250937.3_Silent_p.L34L	NM_001145165.1	NP_001138637.1	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	34					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGCCGCCGAGCCCACGCA	0.677000													6	35					0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141631620	141631620	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141631620G>A	ENST00000546910.1	-	6	548	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F	CLEC5A_ENST00000551012.2_Missense_Mutation_p.L95F|CLEC5A_ENST00000470595.1_5'UTR|CLEC5A_ENST00000439991.1_Missense_Mutation_p.L14F|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000438351.1_Missense_Mutation_p.L95F	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	118	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	p.L118V(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ATGTCCTGAAGAAACTTCTGG	0.373000													12	83					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55979474	55979474	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:55979474G>A	ENST00000263923.4	-	7	1268	c.973C>T	c.(973-975)Cat>Tat	p.H325Y		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	325					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTTACCATGGACCCTGACA	0.403000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			8	62					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	12990024	12990024	+	Missense_Mutation	SNP	G	G	A	rs112329671	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:12990024G>A	ENST00000399002.2	+	1	383	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	SPTLC3_ENST00000378194.4_Missense_Mutation_p.E37K|SPTLC3_ENST00000476791.1_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	37					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AATAGTGAAGGAAGCCCAGGT	0.443000													7	46					0	0	1	0	0
PACRG	135138	broad.mit.edu	37	6	163483254	163483254	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:163483254C>T	ENST00000337019.3	+	4	588	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	PACRG_ENST00000366889.2_Missense_Mutation_p.P122S|PACRG_ENST00000366888.2_Missense_Mutation_p.P122S	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	122										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		AATGACATTTCCCTATGAGTT	0.428000													8	50					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131271333	131271333	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:131271333G>A	ENST00000512055.1	-	17	3245	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V	CPNE4_ENST00000502818.1_Silent_p.V391V|CPNE4_ENST00000429747.1_Silent_p.V373V|CPNE4_ENST00000511604.1_Silent_p.V373V|CPNE4_ENST00000512332.1_Silent_p.V391V			Q96A23	CPNE4_HUMAN	copine IV	373	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AGTCATGAGAGACCTAGACAC	0.398000													6	55					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207785044	207785044	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:207785044C>T	ENST00000367049.4	+	38	6318	c.6318C>T	c.(6316-6318)atC>atT	p.I2106I	CR1_ENST00000367051.1_Silent_p.I1656I|CR1_ENST00000367052.1_Silent_p.I1656I|CR1_ENST00000367053.1_Silent_p.I1656I|CR1_ENST00000400960.2_Silent_p.I1656I	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1656					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						CTCCAGAAATCCTGCATGGTG	0.507000													5	87					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080476	29080476	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29080476C>T	ENST00000377169.1	+	1	809	c.809C>T	c.(808-810)tCt>tTt	p.S270F		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCAGGAAATTCTCAAGATCAA	0.433000													20	76					0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23381724	23381724	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:23381724C>T	ENST00000258729.3	-	10	1518	c.1162G>A	c.(1162-1164)Ggg>Agg	p.G388R		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	388					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GAAGGGGGCCCTGAGGTGGGA	0.483000													5	19					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092003	143092003	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:143092003C>G	ENST00000367603.2	-	5	4615	c.3873G>C	c.(3871-3873)aaG>aaC	p.K1291N	HIVEP2_ENST00000367604.1_Missense_Mutation_p.K1291N|HIVEP2_ENST00000012134.2_Missense_Mutation_p.K1291N	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1291					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)		GAAGAAGGTTCTTTGGGTGTA	0.488000													27	273					0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137680718	137680718	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:137680718C>T	ENST00000239906.5	+	4	769	c.341C>T	c.(340-342)tCc>tTc	p.S114F	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.S114F	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	114										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCCCTCCATCCAAGAGGCAC	0.652000													10	74					0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39888629	39888629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39888629C>T	ENST00000393939.2	-	3	576	c.567G>A	c.(565-567)tgG>tgA	p.W189*	HAP1_ENST00000341193.5_Nonsense_Mutation_p.W197*|HAP1_ENST00000310778.5_Nonsense_Mutation_p.W189*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Nonsense_Mutation_p.W189*			P54257	HAP1_HUMAN	huntingtin-associated protein 1	189	HAP1 N-terminal.			Missing (in Ref. 6; CAB82785).	brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TAACGCTCTCCCAGACAGGTG	0.577000													6	19					0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37368751	37368751	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:37368751A>G	ENST00000529555.1	+	2	1807	c.1019A>G	c.(1018-1020)aAa>aGa	p.K340R	ZNF345_ENST00000420450.1_Missense_Mutation_p.K340R|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.K340R			Q14585	ZN345_HUMAN	zinc finger protein 345	340					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTGGAGAGAAACCTTATGAA	0.393000													11	57					0	0	1	0	0
AZU1	566	broad.mit.edu	37	19	828343	828343	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:828343C>T	ENST00000233997.2	+	2	193	c.172C>T	c.(172-174)Cat>Tat	p.H58Y		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	58	Hydrophobic.|Peptidase S1.|Possesses antibiotic activity.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding	p.H58Y(1)		NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGCCCTGATCCATGCCCGCTT	0.657000													13	94					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109378609	109378609	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:109378609C>T	ENST00000283195.6	+	19	2781	c.2655C>T	c.(2653-2655)tcC>tcT	p.S885S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	885					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CATATAATTCCCAGTATCTTC	0.303000													7	83					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14038072	14038072	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:14038072C>T	ENST00000318003.7	+	22	2551	c.2310C>T	c.(2308-2310)atC>atT	p.I770I	CC2D1A_ENST00000589606.1_Silent_p.I770I	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	770					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TCCGGGAGATCCTTGAGGTGA	0.547000													12	64					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179635952	179635952	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179635952T>C	ENST00000589042.1	-	34	8326	c.8102A>G	c.(8101-8103)aAa>aGa	p.K2701R	TTN_ENST00000460472.2_Missense_Mutation_p.K2655R|TTN_ENST00000359218.5_Missense_Mutation_p.K2655R|TTN_ENST00000591111.1_Missense_Mutation_p.K2701R|TTN_ENST00000360870.5_Missense_Mutation_p.K2701R|TTN_ENST00000342175.6_Missense_Mutation_p.K2655R|TTN_ENST00000342992.6_Missense_Mutation_p.K2701R|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2439	Ig-like 15.						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)			AACTTTGAGTTTGGCAGATGT	0.383000													8	31					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017809	101017809	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:101017809T>C	ENST00000537247.1	+	10	1868	c.914T>C	c.(913-915)tTa>tCa	p.L305S	GAS2L3_ENST00000266754.5_Missense_Mutation_p.L409S|GAS2L3_ENST00000539410.1_Missense_Mutation_p.L409S|GAS2L3_ENST00000547754.1_Missense_Mutation_p.L409S			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	409					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CTTGCTTCATTAAATCCAGTA	0.433000													11	63					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211898	72211898	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:72211898G>A	ENST00000340726.3	-	8	1253	c.614C>T	c.(613-615)tCc>tTc	p.S205F	EYA1_ENST00000388740.3_Missense_Mutation_p.S172F|EYA1_ENST00000303824.7_Missense_Mutation_p.S199F|EYA1_ENST00000388741.2_Missense_Mutation_p.S171F|EYA1_ENST00000388743.2_Missense_Mutation_p.S204F|EYA1_ENST00000419131.1_Missense_Mutation_p.S200F|EYA1_ENST00000388742.4_Missense_Mutation_p.S205F	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	205					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AAATCCAGAGGAATTTGTGAG	0.299000													8	79					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5275625	5275625	+	Missense_Mutation	SNP	G	G	A	rs151258456		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5275625G>A	ENST00000380259.2	-	7	1452	c.212C>T	c.(211-213)tCc>tTc	p.S71F	HBG2_ENST00000336906.4_Missense_Mutation_p.S71F|HBG2_ENST00000380252.1_Missense_Mutation_p.S61F					hemoglobin, gamma G									p.S71F(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTCCCAAGGAAGTCAGCAC	0.532000													16	147					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424543	56424543	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56424543C>T	ENST00000588751.1	-	5	664	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	NLRP13_ENST00000342929.3_Missense_Mutation_p.E214K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	214							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGCTGCAGTTCCTCATGTTCG	0.512000													29	122					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517797	158517797	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158517797G>A	ENST00000302617.3	-	1	98	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGAAAATGGAGAAAAAGAGAA	0.443000													12	35					0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67220152	67220152	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:67220152C>T	ENST00000312457.2	-	1	48	c.44G>A	c.(43-45)aGg>aAg	p.R15K	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	15						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TGTGCGGGGCCTGTGGCCAGT	0.622000													14	32					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46830729	46830729	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:46830729G>A	ENST00000283296.7	-	15	2383	c.2095C>T	c.(2095-2097)Ccc>Tcc	p.P699S	GPR116_ENST00000362015.4_Missense_Mutation_p.P699S|GPR116_ENST00000265417.7_Missense_Mutation_p.P699S|GPR116_ENST00000545669.1_Missense_Mutation_p.P128S|GPR116_ENST00000456426.2_Missense_Mutation_p.P557S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	699					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCGCCAATGGGACTCTCAGGG	0.532000													15	111					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2908511	2908511	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:2908511G>A	ENST00000397461.1	+	7	914	c.530G>A	c.(529-531)gGg>gAg	p.G177E	CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000427331.1_Missense_Mutation_p.G177E|CNTN4_ENST00000418658.1_Missense_Mutation_p.G177E	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	177	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAAGAGACTGGGAATCTGTAT	0.418000													12	65					0	0	1	0	0
HLA-DRB1	3123	broad.mit.edu	37	6	32549415	32549415	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:32549415C>T	ENST00000360004.5	-	3	676	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GGAACTGTTTCCAGCATCACC	0.552000										Multiple Myeloma(14;0.17)			5	177					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196887467	196887467	+	Silent	SNP	G	G	A	rs12757817		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:196887467G>A	ENST00000367416.2	+	10	1802	c.1665G>A	c.(1663-1665)gcG>gcA	p.A555A	CFHR4_ENST00000367418.1_Silent_p.A309A|CFHR4_ENST00000251424.4_Silent_p.A309A|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GATATAATGCGAATACATCAG	0.338000													15	83					0	0	1	0	0
TMEM194A	23306	broad.mit.edu	37	12	57453716	57453716	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:57453716C>T	ENST00000300128.4	-	9	1304	c.1281G>A	c.(1279-1281)gaG>gaA	p.E427E	TMEM194A_ENST00000379391.3_Silent_p.E354E	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	427						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATGAGTCCTCCTCCTCAGAGG	0.483000													3	25					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111215758	111215758	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:111215758C>T	ENST00000369769.2	-	1	1897	c.1674G>A	c.(1672-1674)acG>acA	p.T558T		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	558						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATTATTGTTCGTGGTGCAGG	0.458000													25	92					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39503970	39503970	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:39503970C>T	ENST00000518318.2	+	10	1695	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	POU6F2_ENST00000403058.1_Silent_p.A587A|POU6F2_ENST00000559001.1_Silent_p.A532A			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	587	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGCTGAGGCCCGCCATCGAG	0.567000													7	38					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378441	31378441	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:31378441C>T	ENST00000297142.3	-	2	764	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	148					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CTCAGAATTTCAGAAAGTGCC	0.438000													6	79					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52546963	52546963	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:52546963G>A	ENST00000321725.6	+	29	3223	c.3147G>A	c.(3145-3147)ccG>ccA	p.P1049P		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1049	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)		GGACGCTGCCGAACCTGGTCA	0.692000													3	24					0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35200630	35200630	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:35200630G>A	ENST00000274938.7	+	5	473	c.473G>A	c.(472-474)gGa>gAa	p.G158E	SCUBE3_ENST00000394681.1_Missense_Mutation_p.G158E	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	158	EGF-like 4.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CTTTTAGAAGGAATGAATTGC	0.512000													8	117					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583296	7583296	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:7583296G>A	ENST00000379802.3	+	24	6142	c.5801G>A	c.(5800-5802)cGa>cAa	p.R1934Q	DSP_ENST00000418664.2_Missense_Mutation_p.R1335Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1934	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)		GAACGCTCCCGATATCAGAGG	0.517000													5	74					0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4348367	4348367	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:4348367C>T	ENST00000355530.2	+	3	586	c.306C>T	c.(304-306)ggC>ggT	p.G102G	SPNS3_ENST00000333476.2_Intron|SPNS3_ENST00000576069.1_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	102					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTGTGTTTGGCTACCTGGGCG	0.617000													33	143					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389398	20389398	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20389398C>T	ENST00000315915.4	+	1	658	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F211L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAAGCACTTTCTCTCTCTTGG	0.423000													11	370					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	13993638	13993638	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:13993638C>T	ENST00000454313.1	-	9	2042	c.1984G>A	c.(1984-1986)Gac>Aac	p.D662N	C19orf57_ENST00000586783.1_Missense_Mutation_p.D662N|C19orf57_ENST00000346736.2_Missense_Mutation_p.D631N|C19orf57_ENST00000591586.1_Missense_Mutation_p.D237N			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	662					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CAGGGTGGGTCCCCTCGAGGG	0.602000													15	92					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816291	156816291	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156816291G>A	ENST00000347377.6	+	29	3733	c.3302G>A	c.(3301-3303)aGc>aAc	p.S1101N	CYFIP2_ENST00000541131.1_Missense_Mutation_p.S1026N|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.S905N|CYFIP2_ENST00000521420.1_Missense_Mutation_p.S1075N|CYFIP2_ENST00000318218.6_Missense_Mutation_p.S1126N|CYFIP2_ENST00000435847.2_Missense_Mutation_p.S800N|CYFIP2_ENST00000377576.3_Missense_Mutation_p.S1101N	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1126					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGCATTCGGAGCTACCTGCAG	0.632000													5	28					0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7891483	7891483	+	Splice_Site	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:7891483A>G	ENST00000264668.2	+	10	1438		c.e10-1		MTRR_ENST00000440940.2_Splice_Site	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase						methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	ATTTTTTTCTAGAACATCTTC	0.264000													12	29					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639119	179639119	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179639119G>A	ENST00000589042.1	-	30	7096	c.6872C>T	c.(6871-6873)tCc>tTc	p.S2291F	TTN_ENST00000460472.2_Missense_Mutation_p.S2245F|TTN_ENST00000359218.5_Missense_Mutation_p.S2245F|TTN_ENST00000591111.1_Missense_Mutation_p.S2291F|TTN_ENST00000360870.5_Missense_Mutation_p.S2291F|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S2245F|TTN_ENST00000342992.6_Missense_Mutation_p.S2291F|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2015	Ig-like 12.						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)			ATTTTCTGGGGATACAATGCA	0.378000													11	46					0	0	1	0	0
LOC101243545	101243545	broad.mit.edu	37	3	161146959	161146959	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:161146959C>T	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						GCATCGTAATCAGGAGCCAGT	0.403000													5	107					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27216518	27216518	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:27216518C>T	ENST00000361042.4	+	3	336	c.111C>T	c.(109-111)atC>atT	p.I37I	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000335327.5_Silent_p.I37I			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	37					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TTGCCGCTATCATACGCCAGC	0.428000													14	103					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273906	10273906	+	Silent	SNP	G	G	A	rs145961628		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:10273906G>A	ENST00000396573.2	-	3	672	c.363C>T	c.(361-363)ttC>ttT	p.F121F	GRIN2A_ENST00000330684.3_Silent_p.F121F|GRIN2A_ENST00000562109.1_Silent_p.F121F|GRIN2A_ENST00000396575.2_Silent_p.F121F|GRIN2A_ENST00000404927.2_Silent_p.F121F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	121					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	p.F121L(1)		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)	AGATGGGGACGAAGGTGTGGG	0.602000													11	70					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19501774	19501774	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19501774C>T	ENST00000396229.2	+	18	3380	c.2631C>T	c.(2629-2631)tcC>tcT	p.S877S	TMC5_ENST00000564959.1_Silent_p.S560S|TMC5_ENST00000561503.1_Silent_p.S518S|TMC5_ENST00000542583.2_Silent_p.S877S|TMC5_ENST00000541464.1_Silent_p.S825S|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000219821.5_Silent_p.S631S	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	877						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCATTCACTCCATCTACAGCT	0.478000													32	152					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223568221	223568221	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:223568221G>A	ENST00000366875.3	+	1	1507	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	468										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCCTGAGGAAGGAGCGGCAAC	0.617000													6	30					0	0	1	0	0
CA7	766	broad.mit.edu	37	16	66887393	66887393	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:66887393C>T	ENST00000394069.3	+	7	1050	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	CA7_ENST00000338437.2_Missense_Mutation_p.R263W	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	263					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GGCCTCCTTCCGGGCCTGAGC	0.597000													3	27					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41004340	41004340	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:41004340G>A	ENST00000308423.2	+	1	1140	c.980G>A	c.(979-981)gGa>gAa	p.G327E		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	327					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGTGTCCAGGGAAGTCGAGTG	0.587000													7	58					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31371685	31371685	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:31371685C>T	ENST00000268296.4	+	8	883	c.762C>T	c.(760-762)ctC>ctT	p.L254L	ITGAX_ENST00000562522.1_Silent_p.L254L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	254	VWFA.				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						CCAAAATTCTCATTGTCATCA	0.517000													17	105					0	0	1	0	0
CD7	924	broad.mit.edu	37	17	80274818	80274818	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:80274818C>T	ENST00000584284.1	-	2	203	c.122G>A	c.(121-123)gGa>gAa	p.G41E	CD7_ENST00000578509.1_5'UTR|CD7_ENST00000583376.1_5'UTR|CD7_ENST00000312648.3_Missense_Mutation_p.G41E			P09564	CD7_HUMAN	CD7 molecule	41	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GACGGAGGCTCCCACGGGGAC	0.627000													11	38					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28791710	28791710	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:28791710C>T	ENST00000225719.4	+	21	4097	c.4021C>T	c.(4021-4023)Cat>Tat	p.H1341Y	CPD_ENST00000543464.2_Missense_Mutation_p.H1094Y	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1341					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CAGGCAGCATCATGATGAGTA	0.448000													8	96					0	0	1	0	0
ZNF264	9422	broad.mit.edu	37	19	57723000	57723000	+	Missense_Mutation	SNP	G	G	A	rs61730302	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:57723000G>A	ENST00000263095.6	+	4	949	c.535G>A	c.(535-537)Gga>Aga	p.G179R	ZNF264_ENST00000536056.1_Missense_Mutation_p.G179R	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AGTCTCTCCAGGAGATAGAGT	0.453000													5	45					0	0	1	0	0
CYP3A5	1577	broad.mit.edu	37	7	99270295	99270295	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99270295C>T	ENST00000343703.5	-	5	582	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000439761.1_Missense_Mutation_p.E76K|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.E76K					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					AGTTGACCTTCATACGTTCTG	0.473000													10	139					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41668603	41668603	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:41668603C>T	ENST00000313860.7	+	16	2216	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	LIMCH1_ENST00000396595.3_Missense_Mutation_p.P567L|LIMCH1_ENST00000511496.1_Missense_Mutation_p.P562L|LIMCH1_ENST00000514096.1_Missense_Mutation_p.P562L|LIMCH1_ENST00000503057.1_Missense_Mutation_p.P1106L|LIMCH1_ENST00000509277.1_Missense_Mutation_p.P555L|LIMCH1_ENST00000513024.1_Missense_Mutation_p.P550L|LIMCH1_ENST00000512946.1_Missense_Mutation_p.P721L|LIMCH1_ENST00000512632.1_Intron|LIMCH1_ENST00000508501.1_Missense_Mutation_p.P721L|LIMCH1_ENST00000512820.1_Missense_Mutation_p.P709L|LIMCH1_ENST00000381753.4_Missense_Mutation_p.P555L	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	721					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TCTCCAGAACCCGAAGCAACG	0.393000													4	54					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29797363	29797363	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29797363G>A	ENST00000428701.1	+	5	966	c.788G>A	c.(787-789)gGa>gAa	p.G263E	HLA-G_ENST00000376818.3_Missense_Mutation_p.G171E|HLA-G_ENST00000360323.6_Missense_Mutation_p.G263E|HLA-G_ENST00000376828.2_Missense_Mutation_p.G268E|HLA-G_ENST00000376815.3_Intron	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	263	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GCAGGGGATGGAACCTTCCAG	0.632000													27	110					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747244	10747244	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:10747244C>T	ENST00000586078.1	+	15	1588	c.1479C>T	c.(1477-1479)gcC>gcT	p.A493A	SLC44A2_ENST00000335757.5_Silent_p.A493A|SLC44A2_ENST00000407327.4_Silent_p.A491A	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	493					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCTTCTCTGCCTTTGGCCGGG	0.716000													5	48					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10419994	10419994	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:10419994C>T	ENST00000397077.1	-	9	1583	c.1008G>A	c.(1006-1008)aaG>aaA	p.K336K	ATP2B2_ENST00000343816.4_Silent_p.K367K|ATP2B2_ENST00000352432.4_Silent_p.K381K|ATP2B2_ENST00000383800.4_Silent_p.K336K|ATP2B2_ENST00000360273.2_Silent_p.K381K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	381					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGGACTTCTCCTTCTTGTGCA	0.647000													7	67					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100568928	100568928	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:100568928C>T	ENST00000471714.1	-	17	1592	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	ABI3BP_ENST00000284322.5_Missense_Mutation_p.E446K|ABI3BP_ENST00000495063.1_Missense_Mutation_p.E495K			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	446	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTAAAGATTTCCAGTTTTTGA	0.378000													3	14					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19027857	19027857	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19027857G>A	ENST00000421369.3	+	3	625	c.67G>A	c.(67-69)Gag>Aag	p.E23K	TMC7_ENST00000304381.5_Missense_Mutation_p.E133K|TMC7_ENST00000569532.1_Missense_Mutation_p.E133K	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	133						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAGGTTCCTAGAGAAGGCTCG	0.537000													7	45					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170201210	170201210	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:170201210G>A	ENST00000231706.4	-	6	1323	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	336						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGGCCACTACGAATTTGGCAG	0.532000											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	77					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58035195	58035195	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:58035195G>A	ENST00000395079.2	-	1	537	c.136C>T	c.(136-138)Cta>Tta	p.L46L		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GATGTGCATAGACAGGTTTCT	0.478000													8	63					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104084292	104084292	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:104084292C>T	ENST00000388887.2	+	30	3477	c.3273C>T	c.(3271-3273)ttC>ttT	p.F1091F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1091	FAS1 3.				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						AGGGCAACTTCCTTCACTTGG	0.403000													5	33					0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116759656	116759656	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:116759656C>G	ENST00000265437.5	+	3	490	c.276C>G	c.(274-276)ttC>ttG	p.F92L	ST7_ENST00000432298.1_Missense_Mutation_p.F46L|ST7_ENST00000393449.1_Missense_Mutation_p.F92L|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000323984.3_Missense_Mutation_p.F92L|ST7_ENST00000393444.3_Missense_Mutation_p.F49L|ST7_ENST00000393447.4_Missense_Mutation_p.F49L|ST7_ENST00000465133.1_Missense_Mutation_p.F49L|ST7_ENST00000393446.2_Missense_Mutation_p.F92L|ST7-AS2_ENST00000442719.1_RNA|ST7-AS2_ENST00000434993.1_RNA|ST7_ENST00000422922.1_Missense_Mutation_p.F46L|ST7_ENST00000393443.1_Missense_Mutation_p.F42L|ST7_ENST00000393451.3_Missense_Mutation_p.F92L|ST7-AS2_ENST00000432541.1_RNA	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	92						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GAACTTCATTCATTGAACAAG	0.413000													6	100					0	0	1	0	0
NBPF9	400818	broad.mit.edu	37	1	144816504	144816504	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:144816504C>T	ENST00000440491.2	+	5	637	c.637C>T	c.(637-639)Cct>Tct	p.P213S	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.P213S	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						AAAGGAAGTCCCTGAGGACTC	0.483000													11	221					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21042447	21042447	+	Missense_Mutation	SNP	G	G	A	rs146173789		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:21042447G>A	ENST00000261383.3	-	37	5358	c.5359C>T	c.(5359-5361)Cgc>Tgc	p.R1787C	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1787C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1787	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)		ATCCACTTGCGATCATCAGAG	0.458000													6	62					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54435826	54435826	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:54435826G>A	ENST00000545554.1	+	3	3016	c.3016G>A	c.(3016-3018)Gta>Ata	p.V1006I	UNC13C_ENST00000260323.11_Missense_Mutation_p.V1006I|UNC13C_ENST00000537900.1_Missense_Mutation_p.V1006I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1006					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGCTCGAATAGTAAGTGGCAA	0.393000													3	31					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188210	32188210	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:32188210G>A	ENST00000375023.3	-	6	1269	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	377	EGF-like 9; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.F377L(1)		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						AGAGGCAGGAGAAAGAGCCCA	0.607000													20	176					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108070694	108070694	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:108070694A>C	ENST00000357759.5	+	3	448	c.34A>C	c.(34-36)Att>Ctt	p.I12L	HHLA2_ENST00000489514.2_Missense_Mutation_p.I12L|HHLA2_ENST00000467761.1_Missense_Mutation_p.I12L|HHLA2_ENST00000491820.1_Missense_Mutation_p.I12L|HHLA2_ENST00000467562.1_Missense_Mutation_p.H35P	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	12						integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TTTCTTCCTCATTCTCATAAC	0.358000													4	20					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108219036	108219036	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:108219036C>T	ENST00000273353.3	-	5	541	c.485G>A	c.(484-486)gGg>gAg	p.G162E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	162	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCGCCTCTTCCCTTTGTAGGC	0.473000													7	52					0	0	1	0	0
BIRC3	330	broad.mit.edu	37	11	102195416	102195416	+	Missense_Mutation	SNP	G	G	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:102195416G>C	ENST00000263464.3	+	2	2926	c.176G>C	c.(175-177)gGt>gCt	p.G59A	BIRC3_ENST00000532808.1_Missense_Mutation_p.G59A	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	59					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TATTACACTGGTGTGAATGAC	0.443000			T	MALT1	MALT								13	99					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702598	27702598	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:27702598G>A	ENST00000438700.3	-	1	699	c.582C>T	c.(580-582)tcC>tcT	p.S194S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	194					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGAAGCGGTAGGAGTCGTTGG	0.612000													28	137					0	0	1	0	0
DLX4	1748	broad.mit.edu	37	17	48050372	48050372	+	Translation_Start_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48050372G>A	ENST00000411890.2	+	1	243	c.3G>A	c.(1-3)atG>atA	p.M1I	DLX4_ENST00000503410.1_Intron|DLX4_ENST00000240306.3_Intron	NM_001934.3	NP_001925.2	Q92988	DLX4_HUMAN	distal-less homeobox 4	0				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						ATAAGCTTATGAAACTGTCCG	0.632000													4	49					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149500563	149500563	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:149500563G>A	ENST00000378016.2	+	0	7964							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATACTCCCAGGATGCCGCTGT	0.677000													16	31					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48695653	48695653	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48695653C>T	ENST00000352832.5	+	30	5646	c.5274C>T	c.(5272-5274)ttC>ttT	p.F1758F	CACNA1G_ENST00000510366.1_Silent_p.F1740F|CACNA1G_ENST00000513964.1_Silent_p.F1747F|CACNA1G_ENST00000442258.2_Silent_p.F1751F|CACNA1G_ENST00000507510.2_Silent_p.F1792F|CACNA1G_ENST00000502264.1_Silent_p.F1769F|CACNA1G_ENST00000507336.1_Silent_p.F1781F|CACNA1G_ENST00000359106.5_Silent_p.F1792F|CACNA1G_ENST00000513689.2_Silent_p.F1747F|CACNA1G_ENST00000360761.4_Silent_p.F1769F|CACNA1G_ENST00000510115.1_Silent_p.F1758F|CACNA1G_ENST00000505165.1_Silent_p.F1792F|CACNA1G_ENST00000515165.1_Silent_p.F1792F|CACNA1G_ENST00000515765.1_Silent_p.F1781F|CACNA1G_ENST00000429973.2_Silent_p.F1774F|CACNA1G_ENST00000515411.1_Silent_p.F1774F|CACNA1G_ENST00000358244.5_Silent_p.F1758F|CACNA1G_ENST00000514717.1_Silent_p.F1735F|CACNA1G_ENST00000514181.1_Silent_p.F1767F|CACNA1G_ENST00000514079.1_Silent_p.F1799F|CACNA1G_ENST00000507896.1_Silent_p.F1781F|CACNA1G_ENST00000507609.1_Silent_p.F1785F|CACNA1G_ENST00000512389.1_Silent_p.F1781F|CACNA1G_ENST00000354983.4_Silent_p.F1758F|CACNA1G_ENST00000503485.1_Silent_p.F1758F	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	1792					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)	GCATGGCCTTCCTAACCCTCT	0.607000													7	83					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531242	140531242	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140531242C>T	ENST00000231136.1	+	1	1404	c.1404C>T	c.(1402-1404)atC>atT	p.I468I	PCDHB6_ENST00000543635.1_Silent_p.I332I	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		468	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.I468I(1)		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)			CCCTGCACATCGGCAGCGTCA	0.637000													14	160					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74060213	74060213	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:74060213C>T	ENST00000307877.2	-	4	566	c.405G>A	c.(403-405)tgG>tgA	p.W135*	SRP68_ENST00000355113.5_Nonsense_Mutation_p.W34*|SRP68_ENST00000539137.1_Nonsense_Mutation_p.W97*	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	135					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TGGCGTAGCTCCAGGCTCTTT	0.493000													9	135					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36527669	36527669	+	Silent	SNP	C	C	T	rs150394259		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:36527669C>T	ENST00000273183.3	+	5	915	c.615C>T	c.(613-615)ttC>ttT	p.F205F	STAC_ENST00000457375.2_Silent_p.F144F|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	205					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	p.F205F(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CCCTCCGCTTCGGCACCTCCC	0.552000													19	179					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160221850	160221850	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:160221850C>T	ENST00000275275.5	+	2	261	c.90C>T	c.(88-90)ccC>ccT	p.P30P	PNLDC1_ENST00000392167.3_Silent_p.P41P	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	30						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGTCTGGGCCCCAGCAGATCA	0.557000													13	113					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33144515	33144515	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:33144515C>T	ENST00000341947.2	-	26	2325	c.2098G>A	c.(2098-2100)Gga>Aga	p.G700R	COL11A2_ENST00000395197.1_Missense_Mutation_p.G640R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G593R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G619R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G614R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G674R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G679R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G653R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	700	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCTTTGGTTCCAGGGGGACCT	0.547000													4	14					0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140866079	140866079	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:140866079C>T	ENST00000310546.2	+	3	1534	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	264	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCCCCTGCCTCAGTCTCTCAA	0.632000													11	44					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62954393	62954393	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:62954393C>T	ENST00000393630.3	+	27	3926	c.3535C>T	c.(3535-3537)Cct>Tct	p.P1179S	MON2_ENST00000393632.2_Missense_Mutation_p.P1178S|MON2_ENST00000393629.2_Missense_Mutation_p.P1178S|MON2_ENST00000546600.1_Missense_Mutation_p.P1178S|MON2_ENST00000280379.6_Missense_Mutation_p.P1179S|MON2_ENST00000552738.1_Missense_Mutation_p.P1155S	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1179					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GATTGTGTCCCCTGTCAGAGA	0.448000													7	50					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60903024	60903024	+	Silent	SNP	A	A	C	rs143224228		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:60903024A>C	ENST00000252999.3	-	36	4761	c.4695T>G	c.(4693-4695)tcT>tcG	p.S1565S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1565	Laminin EGF-like 14.				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)	GGAAGCCCGGAGAGCAGGTAT	0.672000													5	92					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108833269	108833269	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:108833269G>A	ENST00000232603.5	-	2	163	c.81C>T	c.(79-81)ttC>ttT	p.F27F	MORC1_ENST00000483760.1_Silent_p.F27F	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	27					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCCAAAAAGGAAACTGTGAG	0.358000													7	17					0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10927495	10927495	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:10927495G>A	ENST00000404371.2	-	13	1562	c.1225C>T	c.(1225-1227)Ccc>Tcc	p.P409S	PDIA6_ENST00000381611.4_Missense_Mutation_p.P362S|PDIA6_ENST00000540494.1_Missense_Mutation_p.P354S|PDIA6_ENST00000272227.3_Missense_Mutation_p.P357S|PDIA6_ENST00000404824.2_Missense_Mutation_p.P405S			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	357					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GCCATGGCGGGGTACCCAAAC	0.502000													8	71					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133073651	133073651	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:133073651C>T	ENST00000326499.6	-	4	899	c.775G>A	c.(775-777)Gga>Aga	p.G259R	VNN2_ENST00000525270.1_Missense_Mutation_p.G206R|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	259	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AGATTAACTCCCATTCCCATT	0.413000													5	91					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42105143	42105143	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:42105143C>T	ENST00000457542.2	+	8	949	c.663C>T	c.(661-663)ggC>ggT	p.G221G	MAPKBP1_ENST00000456763.2_Silent_p.G221G|MAPKBP1_ENST00000221214.6_Silent_p.G221G|MAPKBP1_ENST00000260357.7_Silent_p.G109G|MAPKBP1_ENST00000514566.1_Silent_p.G221G	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	221										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCTTGCTGGGCCGCTCAGGGC	0.592000													10	61					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151393283	151393283	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151393283C>T	ENST00000370314.4	-	6	824	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	GABRA3_ENST00000535043.1_Missense_Mutation_p.E196K|GABRA3_ENST00000370311.1_Missense_Mutation_p.E196K	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	196					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGAAAATCTTCCAAATGCATG	0.373000													11	59					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724071	7724071	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:7724071C>T	ENST00000303635.7	+	9	1671	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	CAMTA1_ENST00000439411.2_Silent_p.F488F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	488					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)		CCGACTGTTTCCTTAATAACC	0.607000			T	WWTR1	epitheliod hemangioendothelioma								10	139					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139912294	139912294	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:139912294G>A	ENST00000265662.5	-	16	2303	c.2156C>T	c.(2155-2157)tCc>tTc	p.S719F	ABCA2_ENST00000341511.6_Missense_Mutation_p.S719F|ABCA2_ENST00000371605.3_Missense_Mutation_p.S718F			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	718					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)		CATGGCCACGGAGTAGACCCA	0.672000													7	30					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785810	12785810	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:12785810G>A	ENST00000332530.3	+	3	916	c.690G>A	c.(688-690)aaG>aaA	p.K230K	AADACL3_ENST00000359318.5_Silent_p.K300K	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	300							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTGTACAAGAAAAGGCTGG	0.522000													11	101					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73012817	73012817	+	Splice_Site	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:73012817A>T	ENST00000261180.4	+	13	2429	c.2334_splice	c.e13+1	p.N778_splice		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	778					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AACATTTTCAATGTAAAAAGA	0.323000													5	36					0	0	1	0	0
PEX6	5190	broad.mit.edu	37	6	42936679	42936679	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:42936679G>A	ENST00000304611.8	-	6	1481	c.1412C>T	c.(1411-1413)cCc>cTc	p.P471L	PEX6_ENST00000244546.4_Missense_Mutation_p.P471L	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	471					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			ACAGCCTGGGGGGCCCCGTAG	0.557000													9	107					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169131	50169131	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:50169131C>T	ENST00000246785.3	+	1	309	c.51C>T	c.(49-51)ttC>ttT	p.F17F	BCL2L12_ENST00000246784.3_Silent_p.F17F|BCL2L12_ENST00000441864.2_Silent_p.F17F|IRF3_ENST00000377139.3_5'UTR	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	17					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTTGGGTTTCCGGCCAGAGG	0.572000													10	43					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49151470	49151470	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:49151470G>A	ENST00000453664.1	-	17	2742	c.2424C>T	c.(2422-2424)ctC>ctT	p.L808L	USP19_ENST00000398896.1_Silent_p.L525L|USP19_ENST00000417901.1_Silent_p.L820L|USP19_ENST00000398888.2_Silent_p.L717L|USP19_ENST00000434032.2_Silent_p.L818L|USP19_ENST00000398898.2_Silent_p.L757L|USP19_ENST00000398892.3_Silent_p.L757L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	717					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACTCTGAGAGAGGGAGTCCA	0.537000													19	50					0	0	1	0	0
PARD6B	84612	broad.mit.edu	37	20	49354562	49354562	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:49354562C>T	ENST00000371610.2	+	2	478	c.235C>T	c.(235-237)Cac>Tac	p.H79Y	PARD6B_ENST00000396039.1_Missense_Mutation_p.H79Y	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	79	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TGATAATTATCACAAAGCTGT	0.338000													8	43					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712341	121712341	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121712341C>T	ENST00000273691.3	-	6	1228	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N	ILDR1_ENST00000344209.5_Missense_Mutation_p.D419N|ILDR1_ENST00000393631.1_Missense_Mutation_p.D330N|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.D387N	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	419						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CTTAGGCTGTCCCTGTCTGAC	0.617000													5	55					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84444355	84444355	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:84444355C>T	ENST00000416219.2	+	6	588	c.499C>T	c.(499-501)Cct>Tct	p.P167S	ATP2C2_ENST00000262429.4_Missense_Mutation_p.P167S|ATP2C2_ENST00000420010.2_Intron			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	167					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CAAGATGGTTCCTCCAGAATG	0.507000													4	59					0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53853272	53853272	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:53853272C>T	ENST00000331251.3	+	1	2282	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	269					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)				GCCCTACCACCTGAGCACCGT	0.657000													4	33					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62777950	62777950	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:62777950T>C	ENST00000280377.5	+	11	1398	c.1340T>C	c.(1339-1341)gTt>gCt	p.V447A	USP15_ENST00000393654.3_Missense_Mutation_p.V422A|USP15_ENST00000353364.3_Missense_Mutation_p.V418A	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	447					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TCAACTTTAGTTTGTCCTGAG	0.363000													3	45					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190674	153190674	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:153190674C>T	ENST00000285900.5	+	16	2953	c.2610C>T	c.(2608-2610)ggC>ggT	p.G870G	GRIA1_ENST00000448073.4_Silent_p.G880G|GRIA1_ENST00000518142.1_Silent_p.G790G|GRIA1_ENST00000518783.1_Silent_p.G880G|GRIA1_ENST00000521843.2_Silent_p.G801G|GRIA1_ENST00000340592.5_Silent_p.G870G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	870					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCAGCAGCGGCGGCAGTGGAG	0.577000													9	36					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86831042	86831042	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:86831042A>T	ENST00000237455.4	-	4	2950	c.1982T>A	c.(1981-1983)gTt>gAt	p.V661D	AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	661					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CCACCGGCAAACAGGGCAACA	0.438000													10	97					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101740231	101740231	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:101740231C>T	ENST00000261637.4	+	38	4923	c.4749C>T	c.(4747-4749)atC>atT	p.I1583I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1583					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACCCATAGATCCACAGAAGAG	0.343000													5	42					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019902	20019902	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20019902G>A	ENST00000551509.1	-	1	370	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	107										endometrium(4)|kidney(1)|lung(4)	9						CTGCAGCAGGGGAAGCAGTGG	0.612000													9	226					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48698850	48698850	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:48698850C>T	ENST00000544264.1	-	1	1498	c.1218G>A	c.(1216-1218)caG>caA	p.Q406Q	CELSR3_ENST00000164024.4_Silent_p.Q406Q			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	406	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACCCGTGGTCCTGCGCGGTCA	0.667000													6	41					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46111149	46111149	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:46111149G>A	ENST00000321037.4	+	4	1364	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	378						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCCACATCCTGGGATTAAAAC	0.433000													16	78					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6167075	6167075	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:6167075C>T	ENST00000261405.5	-	14	1923	c.1669G>A	c.(1669-1671)Ggg>Agg	p.G557R		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	557	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGGCAGTCCCCGTGCAGCTTC	0.647000													7	85					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144082	55144082	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55144082C>T	ENST00000396331.1	+	7	1186	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F	LILRB1_ENST00000427581.2_Missense_Mutation_p.L313F|LILRB1_ENST00000418536.2_Missense_Mutation_p.L277F|LILRB1_ENST00000396315.1_Missense_Mutation_p.L277F|LILRB1_ENST00000396317.1_Missense_Mutation_p.L277F|LILRB1_ENST00000396327.3_Missense_Mutation_p.L277F|LILRB1_ENST00000396332.4_Missense_Mutation_p.L277F|LILRB1_ENST00000448689.1_Missense_Mutation_p.L277F|LILRB1_ENST00000324602.7_Missense_Mutation_p.L277F|LILRB1_ENST00000434867.2_Missense_Mutation_p.L277F|LILRB1_ENST00000396321.2_Missense_Mutation_p.L277F	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	277	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCAGGCTGGGCTCTCCCAGGC	0.617000										HNSCC(37;0.09)			12	78					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128973868	128973868	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:128973868C>T	ENST00000522781.1	-	4	1347	c.792G>A	c.(790-792)agG>agA	p.R264R	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.R264R	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	264										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCTCGGGGGCCCTGGCACTGA	0.652000													3	33					0	0	1	0	0
ZNF670	93474	broad.mit.edu	37	1	247201223	247201223	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:247201223G>A	ENST00000366503.2	-	4	856	c.698C>T	c.(697-699)tCa>tTa	p.S233L		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			AAAAGTGAATGATTTACCACA	0.378000													5	37					0	0	1	0	0
NEU3	10825	broad.mit.edu	37	11	74716851	74716851	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:74716851C>T	ENST00000294064.4	+	3	1627	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	NEU3_ENST00000544263.1_Silent_p.L201L|NEU3_ENST00000545272.1_Silent_p.L125L|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000531509.1_Silent_p.L234L|NEU3_ENST00000529024.1_Intron	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	234										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GCCTCATTCTCTGATGATCTA	0.507000													14	75					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73553298	73553298	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:73553298C>T	ENST00000224721.6	+	47	6633	c.6628C>T	c.(6628-6630)Cca>Tca	p.P2210S		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2205	Cadherin 21.			EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902).	calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CGACCTCAACCCAAAGCTAGA	0.567000													8	30					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85401496	85401496	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:85401496G>A	ENST00000258888.5	+	6	4300	c.4133G>A	c.(4132-4134)gGa>gAa	p.G1378E		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1378					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGAGCAGCAGGAGACGGGGAG	0.647000													5	5					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726690	32726690	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:32726690C>T	ENST00000435145.2	-	3	644	c.583G>A	c.(583-585)Gga>Aga	p.G195R	HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G195R|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.G195R			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	195					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TAGATGTCTCCACGCTGGGGA	0.567000													6	53					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836114	43836114	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:43836114C>T	ENST00000372781.3	+	2	233	c.176C>T	c.(175-177)tCc>tTc	p.S59F	SEMG1_ENST00000244069.6_Missense_Mutation_p.S59F	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAAACTGAATCCAAAGGCAGT	0.408000													10	102					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9228267	9228267	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:9228267G>A	ENST00000328194.3	-	3	564	c.244C>T	c.(244-246)Cct>Tct	p.P82S	DENND5A_ENST00000530044.1_Missense_Mutation_p.P82S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	82	UDENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACGTTCTCAGGATATCGTGCA	0.338000													27	112					0	0	1	0	0
ATG13	9776	broad.mit.edu	37	11	46693861	46693861	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:46693861C>T	ENST00000434074.1	+	17	2222	c.1533C>T	c.(1531-1533)gcC>gcT	p.A511A	ATG13_ENST00000312040.4_Silent_p.A511A|ATG13_ENST00000359513.4_Silent_p.A511A|ATG13_ENST00000526508.1_Silent_p.A511A|ATG13_ENST00000530500.1_Silent_p.A395A|ATG13_ENST00000529655.1_Silent_p.A474A|ATG13_ENST00000524625.1_Silent_p.A474A|ATG13_ENST00000451945.1_Silent_p.A474A|ATG13_ENST00000528494.1_Silent_p.A544A	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	511					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AGTTTGATGCCTTTGTGGAAA	0.542000													8	117					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135433610	135433610	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:135433610C>T	ENST00000394143.1	+	7	7023	c.6732C>T	c.(6730-6732)tcC>tcT	p.S2244S	GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Silent_p.S2039S|GPR112_ENST00000412101.1_Silent_p.S2039S|GPR112_ENST00000370652.1_Silent_p.S2244S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2244					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)					TTACAGTTTCCTTCTACAATG	0.289000													9	29					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98188504	98188504	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:98188504C>T	ENST00000357947.3	-	5	747	c.520_splice	c.e5-1	p.G174_splice	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	174	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCCTCTGGCTCCCTGAAACAA	0.443000													10	39					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328418	48328418	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:48328418C>T	ENST00000319988.1	+	1	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTTATCATTTCCTATGTTATC	0.463000													10	71					0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61779862	61779862	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:61779862C>T	ENST00000325324.6	+	11	1216	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Silent_p.A389A	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	349						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CTCTTGAAGCCCATAAGATTA	0.318000													6	49					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68207275	68207275	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:68207275C>T	ENST00000294304.7	+	21	4485	c.4379C>T	c.(4378-4380)tCc>tTc	p.S1460F		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1460					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGATGAGCTCCGTGAGCCTG	0.682000													4	19					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57013278	57013278	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:57013278C>T	ENST00000370706.4	+	10	2639	c.2395C>T	c.(2395-2397)Cat>Tat	p.H799Y	ZNF451_ENST00000357489.3_Missense_Mutation_p.H799Y|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.H799Y|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAAAGCATTTCATGATCCTGA	0.423000													4	36					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3081262	3081262	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:3081262C>T	ENST00000520002.1	-	29	5031	c.4476G>A	c.(4474-4476)ttG>ttA	p.L1492L	CSMD1_ENST00000602723.1_Silent_p.L1492L|CSMD1_ENST00000539096.1_Silent_p.L1491L|CSMD1_ENST00000537824.1_Silent_p.L1491L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Silent_p.L1492L|CSMD1_ENST00000542608.1_Silent_p.L1491L|CSMD1_ENST00000400186.3_Silent_p.L1492L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1492	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTTGAATATCAAGGCGATGA	0.403000													6	88					0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200635235	200635235	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:200635235C>T	ENST00000447706.2	-	2	785	c.634G>A	c.(634-636)Gag>Aag	p.E212K	DDX59_ENST00000331314.6_Missense_Mutation_p.E212K|DDX59_ENST00000367348.3_Missense_Mutation_p.E212K			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	212						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TTTAAGACCTCAGGGAGACTA	0.438000													27	149					0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108474693	108474693	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:108474693C>T	ENST00000295755.6	-	3	466	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	90					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CAGGTGGTTTCCAGCTGAACA	0.572000													11	76					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220472776	220472776	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:220472776C>T	ENST00000456909.1	+	14	1317	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	STK11IP_ENST00000295641.10_Silent_p.F420F			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	420					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGGATGGTTCGTGCAGCAGC	0.627000													4	34					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100348538	100348538	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:100348538G>A	ENST00000273352.3	+	2	480	c.212G>A	c.(211-213)gGa>gAa	p.G71E		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	71					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAGTGGAAAGGACTGAGATGT	0.388000													16	53					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669558	53669558	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:53669558C>T	ENST00000396424.3	-	4	274	c.185G>A	c.(184-186)gGg>gAg	p.G62E	ZNF665_ENST00000600412.1_5'UTR	NM_024733.3	NP_079009.3	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ATTGTTCTTCCCCTTTGGTGG	0.378000													15	240					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75444565	75444565	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:75444565C>T	ENST00000549446.1	-	3	1900	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	KCNC2_ENST00000548513.1_Missense_Mutation_p.G407E|KCNC2_ENST00000393288.2_Missense_Mutation_p.G407E|KCNC2_ENST00000540018.1_Missense_Mutation_p.G407E|KCNC2_ENST00000298972.1_Missense_Mutation_p.G407E|KCNC2_ENST00000550433.1_Missense_Mutation_p.G407E|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Missense_Mutation_p.G407E|KCNC2_ENST00000350228.2_Missense_Mutation_p.G407E	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	407					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						AGGTTGAGCTCCCACTCTCTC	0.448000													5	52					0	0	1	0	0
MBD3	53615	broad.mit.edu	37	19	1578450	1578450	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:1578450G>A	ENST00000590550.2	-	5	970	c.597C>T	c.(595-597)gcC>gcT	p.A199A	MBD3_ENST00000434436.3_Silent_p.A255A|MBD3_ENST00000156825.1_Silent_p.A255A|MBD3_ENST00000592012.1_Silent_p.A223A			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	255					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCGTCACGGGCCAGCTCCT	0.692000													7	75					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	5984012	5984012	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:5984012C>T	ENST00000574946.1	+	2	424	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F	WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Missense_Mutation_p.L12F|WSCD1_ENST00000574232.1_Missense_Mutation_p.L12F|WSCD1_ENST00000317744.5_Missense_Mutation_p.L12F			Q658N2	WSCD1_HUMAN	WSC domain containing 1	12						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CCAGAAGTTTCTCCGCCGAAC	0.657000													7	63					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551458	1551458	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:1551458G>A	ENST00000381605.4	-	4	1141	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	359					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						CACCATGGGTGATATCTGAGC	0.428000													19	146					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50519287	50519287	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:50519287G>A	ENST00000267842.5	+	7	1601	c.1369G>A	c.(1369-1371)Gga>Aga	p.G457R	SLC27A2_ENST00000544960.1_Missense_Mutation_p.G222R|SLC27A2_ENST00000380902.4_Missense_Mutation_p.G404R	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	457					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTTTAAGAAAGGAGACCTCTA	0.388000													4	42					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35914047	35914047	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:35914047G>A	ENST00000339208.6	-	14	1918	c.1778C>T	c.(1777-1779)cCa>cTa	p.P593L	SYNRG_ENST00000346661.4_Missense_Mutation_p.P593L|SYNRG_ENST00000345615.4_Missense_Mutation_p.P515L|SYNRG_ENST00000591288.1_Missense_Mutation_p.P432L|SYNRG_ENST00000502449.2_Missense_Mutation_p.P515L|SYNRG_ENST00000394378.2_Missense_Mutation_p.P515L|SYNRG_ENST00000585472.1_Missense_Mutation_p.P514L|SYNRG_ENST00000588194.1_5'UTR	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	593	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGGGAAGGATGGTGGAAAAGT	0.408000													6	125					0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767710	143767710	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:143767710G>A	ENST00000419275.1	-	1	171	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	47	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	p.R47C(1)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CCCTTATAACGAAATCCTTTC	0.483000													4	178					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070955	9070955	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9070955C>T	ENST00000397910.4	-	3	16694	c.16491G>A	c.(16489-16491)aaG>aaA	p.K5497K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5499	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						TTGAGCTGGTCTTCTCAGACG	0.468000													7	51					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11593517	11593517	+	Missense_Mutation	SNP	C	C	T	rs138872750		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:11593517C>T	ENST00000262442.3	+	20	4446	c.4378C>T	c.(4378-4380)Ccc>Tcc	p.P1460S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P1460S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1460	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		GACCAATGTCCCCCTCCTGTG	0.493000													7	50					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19642411	19642411	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:19642411C>T	ENST00000284885.3	-	25	2968	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	979	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.E979*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTGTTGTTTTCTTGGCACATT	0.428000													8	106					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360232	55360232	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55360232G>A	ENST00000398661.2	-	8	1001	c.870C>T	c.(868-870)atC>atT	p.I290I	HMGCLL1_ENST00000308161.4_Silent_p.I228I|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Silent_p.I260I|HMGCLL1_ENST00000370850.2_Silent_p.I157I	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	290							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGGCCGTAAGGATATTTGCTA	0.388000													7	45					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135392890	135392890	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:135392890C>T	ENST00000354042.4	-	3	1026	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	AC091736.10_ENST00000378428.3_RNA	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	113						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GCCATCAAGACCATGCGCAGA	0.582000													5	123					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99695991	99695991	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:99695991G>A	ENST00000370597.3	-	3	712	c.357C>T	c.(355-357)gcC>gcT	p.A119A	CRTAC1_ENST00000370591.2_Silent_p.A119A|CRTAC1_ENST00000298819.4_Silent_p.A119A	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	119						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CGATGTCGCAGGCTGTGACCC	0.647000													12	54					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519035	113519035	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:113519035G>A	ENST00000284601.3	-	4	2180	c.2112C>T	c.(2110-2112)acC>acT	p.T704T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	704					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCTTGGCAGGTAAACAATT	0.398000													17	147					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993389	140993389	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:140993389C>T	ENST00000285879.4	+	4	485	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	67							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)					CTCGGATCCTCTCCAGAGACC	0.582000										HNSCC(15;0.026)			9	101					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196802735	196802735	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:196802735G>A	ENST00000314062.3	-	17	2047	c.1858C>T	c.(1858-1860)Cct>Tct	p.P620S	DLG1_ENST00000422288.1_Missense_Mutation_p.P620S|DLG1_ENST00000392382.2_Missense_Mutation_p.P638S|DLG1_ENST00000419354.1_Missense_Mutation_p.P671S|DLG1_ENST00000448528.2_Missense_Mutation_p.P671S|DLG1_ENST00000357674.4_Intron|DLG1_ENST00000443183.1_Missense_Mutation_p.P555S|DLG1_ENST00000346964.2_Intron|DLG1_ENST00000452595.1_Missense_Mutation_p.P555S|DLG1_ENST00000450955.1_Intron			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	671	SH3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATGTCGTCAGGGATCTCCTGT	0.388000													8	74					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52896080	52896080	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:52896080C>T	ENST00000354452.3	-	18	2488	c.1877G>A	c.(1876-1878)cGa>cAa	p.R626Q	TCF4_ENST00000356073.4_Missense_Mutation_p.R622Q|TCF4_ENST00000564999.1_Missense_Mutation_p.R622Q|TCF4_ENST00000570177.2_Missense_Mutation_p.R492Q|TCF4_ENST00000564403.2_Missense_Mutation_p.R632Q|TCF4_ENST00000567880.1_Missense_Mutation_p.R562Q|TCF4_ENST00000561831.3_Missense_Mutation_p.R462Q|TCF4_ENST00000537578.1_Missense_Mutation_p.R602Q|TCF4_ENST00000544241.2_Missense_Mutation_p.R555Q|TCF4_ENST00000561992.1_Missense_Mutation_p.R492Q|TCF4_ENST00000543082.1_Missense_Mutation_p.R580Q|TCF4_ENST00000568740.1_Missense_Mutation_p.R597Q|TCF4_ENST00000566286.1_Missense_Mutation_p.R619Q|TCF4_ENST00000568673.1_Missense_Mutation_p.R602Q|TCF4_ENST00000565018.2_Missense_Mutation_p.R626Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R598Q|TCF4_ENST00000457482.3_Missense_Mutation_p.R466Q|TCF4_ENST00000564228.1_Missense_Mutation_p.R551Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R492Q|TCF4_ENST00000398339.1_Missense_Mutation_p.R728Q|TCF4_ENST00000566279.1_Missense_Mutation_p.R566Q|TCF4_ENST00000570287.2_Missense_Mutation_p.R462Q	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	622	Class A specific domain.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GCACTGACCTCGGACTTGCTG	0.612000													6	43					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394133	233394133	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:233394133G>A	ENST00000258229.8	-	5	1709	c.1475C>T	c.(1474-1476)tCg>tTg	p.S492L	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	492						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCGGGACACCGATTCCCAGGG	0.537000													6	45					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86697493	86697493	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:86697493G>A	ENST00000409556.1	+	12	2051	c.1686G>A	c.(1684-1686)aaG>aaA	p.K562K	KDM3A_ENST00000542128.1_Silent_p.K510K|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000409064.1_Silent_p.K562K|KDM3A_ENST00000312912.5_Silent_p.K562K			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	562					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						AGCAACAGAAGGACTCACCTG	0.478000													10	40					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554593	44554593	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:44554593C>T	ENST00000330682.2	-	1	1856	c.1621G>A	c.(1621-1623)Gga>Aga	p.G541R	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.G541R(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GAGAATCTTCCCTTGTAGTCT	0.577000													6	477					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870476	51870476	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:51870476G>A	ENST00000371497.5	+	2	1366	c.479G>A	c.(478-480)gGc>gAc	p.G160D	TSHZ2_ENST00000603338.2_Missense_Mutation_p.G157D|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G157D	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	160					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACCCGAAACGGCAGCAACAAG	0.547000													15	66					0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51378066	51378066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51378066G>T	ENST00000325321.3	+	2	361	c.136G>T	c.(136-138)Gga>Tga	p.G46*	KLK2_ENST00000597509.1_3'UTR|KLK2_ENST00000391810.2_Intron|KLK2_ENST00000358049.4_Nonsense_Mutation_p.G46*			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	46	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GTACAGTCATGGATGGGCACA	0.617000			T	ETV4	prostate								9	41					1.04858e-14	1.06216e-14	1	1	0
GRIK4	2900	broad.mit.edu	37	11	120707542	120707542	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:120707542T>C	ENST00000527524.2	+	8	1020	c.733T>C	c.(733-735)Ttc>Ctc	p.F245L	GRIK4_ENST00000438375.2_Missense_Mutation_p.F245L			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	245					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)	CACATACATCTTCACTAATCT	0.448000													6	92					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36341926	36341926	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:36341926C>T	ENST00000378910.5	-	4	462	c.463G>A	c.(463-465)Gag>Aag	p.E155K	NPHS1_ENST00000353632.6_Missense_Mutation_p.E155K	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	155	Ig-like C2-type 2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACCACGTACTCCTGCCCAGCT	0.607000													6	52					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73045047	73045047	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:73045047C>T	ENST00000604411.1	+	0	33008				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CATGTGTTTTCGTTTCTGATA	0.333000													5	11					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657103	81657103	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:81657103C>T	ENST00000550584.2	-	30	3917	c.3622G>A	c.(3622-3624)Gga>Aga	p.G1208R	PPFIA2_ENST00000552948.1_Missense_Mutation_p.G1187R|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G1193R|PPFIA2_ENST00000541017.1_Missense_Mutation_p.G394R|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G744R|PPFIA2_ENST00000549396.1_Missense_Mutation_p.G1208R|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G1196R|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G1107R|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G1103R|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G1055R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G1202R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1107										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATGCTGATTCCATGTACTTCA	0.443000													3	25					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137872796	137872796	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:137872796G>A	ENST00000409968.1	+	5	1480	c.1302G>A	c.(1300-1302)ggG>ggA	p.G434G	THSD7B_ENST00000413152.2_Silent_p.G403G|THSD7B_ENST00000272643.3_Silent_p.G434G|THSD7B_ENST00000543459.1_Intron					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)		GTGGCGGTGGGATCCAGACCC	0.602000													6	21					0	0	1	0	0
CCL25	6370	broad.mit.edu	37	19	8122725	8122725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:8122725C>T	ENST00000315626.4	+	4	338	c.232C>T	c.(232-234)Caa>Taa	p.Q78*	CCL25_ENST00000390669.3_Silent_p.S122S|CCL25_ENST00000253451.4_Silent_p.S121S			O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	0					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						ctggaaactccaagttatcat	0.458000													3	40					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18266907	18266907	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:18266907G>A	ENST00000377369.2	+	5	1101	c.828G>A	c.(826-828)agG>agA	p.R276R	SLC39A12_ENST00000377371.3_Silent_p.R276R|SLC39A12_ENST00000539911.1_Silent_p.R142R|SLC39A12_ENST00000377374.4_Silent_p.R276R	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	276					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AATTTCAAAGGAAACAAAACA	0.363000													19	96					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65978617	65978617	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:65978617C>T	ENST00000320580.4	+	4	580	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	183				Missing (in Ref. 2; BAC04831).	interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CCCTCATTTCCTTAAGCGAGA	0.493000													16	214					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75427947	75427947	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:75427947A>T	ENST00000502798.2	+	2	814	c.372A>T	c.(370-372)gaA>gaT	p.E124D	SV2C_ENST00000322285.7_Missense_Mutation_p.E124D	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	124					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GGGAGCTGGAATCAGAAAGGA	0.552000													9	30					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24487836	24487836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:24487836C>T	ENST00000264463.4	-	12	2810	c.2303G>A	c.(2302-2304)tGg>tAg	p.W768*	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	768					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCGAGGGCCCCATTCTCGGAG	0.408000										HNSCC(23;0.051)			5	81					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2774947	2774947	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:2774947G>A	ENST00000380605.2	-	14	2158	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	698					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGGTGAGCACGAAATTGCAGG	0.642000													11	50					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50683781	50683781	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:50683781G>A	ENST00000442544.2	+	8	1933	c.1317G>A	c.(1315-1317)ttG>ttA	p.L439L	DCC_ENST00000412726.1_Silent_p.L287L|DCC_ENST00000581580.1_Silent_p.L94L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	439	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCCTGTCTTGGTTTCCAGCC	0.532000													23	167					0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669600	99669600	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:99669600C>T	ENST00000303915.6	-	5	1474	c.507G>A	c.(505-507)gaG>gaA	p.E169E	ZNF3_ENST00000424697.1_Silent_p.E169E|ZNF3_ENST00000299667.4_Silent_p.E169E|ZNF3_ENST00000413658.2_Intron			P17036	ZNF3_HUMAN	zinc finger protein 3	169					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TCTCGCTTCTCTCTCCCCTGG	0.488000													11	121					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933157	83933157	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:83933157C>T	ENST00000345382.2	-	4	931	c.846G>A	c.(844-846)ggG>ggA	p.G282G	BNC1_ENST00000569704.1_Silent_p.G275G|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	282					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CAGGGAAGGGCCCATGGACTT	0.468000													10	51					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101833635	101833635	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:101833635G>T	ENST00000376196.3	-	15	1977	c.1818C>A	c.(1816-1818)tgC>tgA	p.C606*	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000251127.6_Intron			Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1519						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAGAGGAAGGCAGGATGGAC	0.532000													5	58					4.096e-09	4.14027e-09	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38825330	38825330	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:38825330G>A	ENST00000359357.3	+	40	5373	c.5119G>A	c.(5119-5121)Gat>Aat	p.D1707N	DNAH8_ENST00000441566.1_Missense_Mutation_p.D1707N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D1924N					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTGGACACACGATTCAGAAGA	0.343000													6	59					0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25273711	25273711	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:25273711C>T	ENST00000331161.4	-	5	937	c.718G>A	c.(718-720)Gac>Aac	p.D240N	ENKUR_ENST00000376363.1_Missense_Mutation_p.D240N	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	240						cilium|flagellum	calmodulin binding|SH3 domain binding	p.D240N(1)		endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						ATGCCAATGTCGTGTTCTAGT	0.353000													6	39					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691817	49691817	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:49691817C>T	ENST00000296452.4	+	5	4942	c.4828C>T	c.(4828-4830)Cct>Tct	p.P1610S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1610					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCAGAGCCACCTGGGCCACC	0.642000													3	35					0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46388662	46388662	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:46388662G>A	ENST00000302165.3	-	1	714	c.371C>T	c.(370-372)cCc>cTc	p.P124L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGCGGGCGAGGGCAGGGGGAG	0.751000													3	30					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56540661	56540661	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:56540661G>A	ENST00000323777.3	-	4	1133	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	342						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCATTGAAGGATTCTGGGAA	0.353000													5	61					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513132	78513132	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:78513132C>T	ENST00000397909.2	+	15	3329	c.3156C>T	c.(3154-3156)ccC>ccT	p.P1052P	NAV3_ENST00000228327.6_Silent_p.P1052P|NAV3_ENST00000536525.2_Silent_p.P1052P|NAV3_ENST00000266692.7_Silent_p.P1052P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1052	Ser-rich.					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						GGAAAAAGCCCCCCTCAGGCA	0.488000										HNSCC(70;0.22)			16	62					0	0	1	0	0
C7orf66	154907	broad.mit.edu	37	7	108524078	108524078	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:108524078C>T	ENST00000379007.2	-	2	388	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	112						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TTTCCCATTTCCTTTGGAAAA	0.323000													9	24					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115080361	115080361	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:115080361G>A	ENST00000537058.1	-	8	1031	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	CADM1_ENST00000331581.6_Silent_p.I337I|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000452722.2_Silent_p.I337I			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	337				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggGAGGAGGGATAGTTGTGG	0.448000													9	44					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046487	42046487	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:42046487G>A	ENST00000372584.1	-	3	4996	c.3982C>T	c.(3982-3984)Ccg>Tcg	p.P1328S	HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1328S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1328S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1328S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1328					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCATAGGACGGCATATTGGTC	0.577000													17	59					0	0	1	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647235	33647235	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:33647235C>T	ENST00000558425.1	-	2	364	c.365G>A	c.(364-366)gGa>gAa	p.G122E																								TCACTGACTTCCCCTCGCTGT	0.577000													16	137					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19770462	19770462	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:19770462A>G	ENST00000357324.6	-	3	651	c.625T>C	c.(625-627)Ttc>Ctc	p.F209L	ATP13A1_ENST00000291503.5_Missense_Mutation_p.F91L	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	209					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCTTCCTGGAAGCCTCTGTTG	0.502000													11	63					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37518344	37518344	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:37518344C>T	ENST00000432825.2	-	9	2340	c.2292G>A	c.(2290-2292)caG>caA	p.Q764Q	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.Q289Q	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	764						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GTTGGCTGCTCTGGGCCACAG	0.587000													6	14					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75434918	75434918	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:75434918C>T	ENST00000341669.3	-	5	2392	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000548513.1_3'UTR|KCNC2_ENST00000298972.1_3'UTR|KCNC2_ENST00000550433.1_Missense_Mutation_p.D617N|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000549446.1_3'UTR|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000350228.2_3'UTR	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						CCAGTATAGTCCTTGGTATGG	0.443000													5	42					0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56962279	56962279	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:56962279C>T	ENST00000371250.3	-	6	1431	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	294					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GAAAGGATTTCCTTCCGGATA	0.478000													10	94					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296489	20296489	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20296489G>A	ENST00000315947.1	+	1	882	c.882G>A	c.(880-882)gtG>gtA	p.V294V	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACCAGGAAGTGAAAGCTTCCA	0.378000													6	80					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	154996947	154996947	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:154996947C>T	ENST00000392825.3	+	4	807	c.240C>T	c.(238-240)atC>atT	p.I80I	GALNT13_ENST00000409237.1_Silent_p.I80I	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	80						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGTTTAAAATCAATCAGTTTA	0.363000													5	36					0	0	1	0	0
STARD3	10948	broad.mit.edu	37	17	37819081	37819081	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:37819081C>T	ENST00000336308.5	+	15	1476	c.1258C>T	c.(1258-1260)Cac>Tac	p.H420Y	STARD3_ENST00000580611.1_Silent_p.S401S|STARD3_ENST00000544210.2_Missense_Mutation_p.H420Y|STARD3_ENST00000394250.4_Missense_Mutation_p.H402Y	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	420	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTACCTCATCCACCAGAGCCT	0.667000													11	106					0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12297776	12297776	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:12297776C>T	ENST00000343979.4	+	4	723	c.583C>T	c.(583-585)Cca>Tca	p.P195S	ZNF136_ENST00000398616.2_Missense_Mutation_p.P129S	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	195					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TGGATATACACCATATAAATG	0.378000													12	38					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19644485	19644485	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19644485C>T	ENST00000438132.3	+	19	1941	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	C16orf62_ENST00000448695.1_Silent_p.S392S|C16orf62_ENST00000417362.2_Silent_p.S475S|C16orf62_ENST00000542263.1_Silent_p.S564S|C16orf62_ENST00000251143.5_Silent_p.S542S|C16orf62_ENST00000543152.1_Silent_p.S291S	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	542						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTGAAGATTCCTACCCCCAGG	0.408000													6	130					0	0	1	0	0
AMICA1	120425	broad.mit.edu	37	11	118081291	118081291	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:118081291C>T	ENST00000292067.7	-	3	746	c.305G>A	c.(304-306)gGa>gAa	p.G102E	AMICA1_ENST00000533261.1_Missense_Mutation_p.G112E|AMICA1_ENST00000526620.1_Missense_Mutation_p.G73E|AMICA1_ENST00000356289.5_Missense_Mutation_p.G112E	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	112	Ig-like V-type 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GATATAGGTTCCCTGGTCAGC	0.537000													7	93					0	0	1	0	0
MIEF1	54471	broad.mit.edu	37	22	39910160	39910160	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:39910160C>T	ENST00000325301.2	+	6	1648	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	SMCR7L_ENST00000402881.1_Silent_p.F408F|SMCR7L_ENST00000404569.1_Silent_p.F408F	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		408						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					CCGACCGTTTCCTGCAGGCCT	0.587000											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	65					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725553	55725553	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55725553G>A	ENST00000379667.1	+	1	69	c.69G>A	c.(67-69)gtG>gtA	p.V23V		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTCAGATTGTGATTTTTCTCT	0.423000													12	71					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836443	43836443	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:43836443C>T	ENST00000372781.3	+	2	562	c.505C>T	c.(505-507)Cat>Tat	p.H169Y	SEMG1_ENST00000244069.6_Missense_Mutation_p.H169Y	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GCTGTGGGTTCATGGACTAAG	0.433000													5	111					0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27121432	27121432	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:27121432G>A	ENST00000354828.3	+	4	834		c.e4+1		GABPA_ENST00000487266.1_Splice_Site|GABPA_ENST00000400075.3_Splice_Site	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa						positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						TCTTACCAAGGTAAGTTACTT	0.318000													6	30					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175972	57175972	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:57175972A>C	ENST00000537055.2	-	2	826	c.595T>G	c.(595-597)Tgc>Ggc	p.C199G		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCCTTGCCGCAGTCGGCGCAG	0.731000													3	17					0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41738518	41738518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:41738518G>A	ENST00000373018.3	-	7	1569	c.1318C>T	c.(1318-1320)Caa>Taa	p.Q440*	FRS3_ENST00000259748.2_Nonsense_Mutation_p.Q440*	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	440					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATGGGGGCTTGGGGGCTCGAG	0.647000													11	115					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8492945	8492945	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:8492945G>A	ENST00000381196.4	-	24	2927	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	PTPRD_ENST00000540109.1_Missense_Mutation_p.S795F|PTPRD_ENST00000360074.4_Missense_Mutation_p.S782F|PTPRD_ENST00000358503.5_Missense_Mutation_p.S773F|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.S795F|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	795	Fibronectin type-III 5.				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)		GAGGGAGTAGGAAGTTTCAGG	0.483000										TSP Lung(15;0.13)			9	84					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43214426	43214426	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:43214426G>A	ENST00000259750.4	+	2	111	c.28G>A	c.(28-30)Gac>Aac	p.D10N		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	10						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CGCCCTTAAGGACGAAACCAA	0.672000													5	55					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41272544	41272544	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:41272544G>A	ENST00000361937.3	-	36	4972	c.4548C>T	c.(4546-4548)tcC>tcT	p.S1516S	INO80_ENST00000401393.3_Silent_p.S1516S			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1516	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGCTCAAAGGGGAACTCAAAG	0.557000													9	62					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39284133	39284133	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:39284133C>T	ENST00000373229.5	-	5	760	c.747G>A	c.(745-747)ctG>ctA	p.L249L	KCNK16_ENST00000437525.2_Silent_p.L249L|KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000425054.2_Intron	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	249						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GTGGGAGGATCAGCGCCAGCC	0.642000													4	27					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707637	96707637	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:96707637C>T	ENST00000260682.6	+	4	595	c.583C>T	c.(583-585)Ctt>Ttt	p.L195F		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	195					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCAGCAATTTCTTAACTTAAT	0.403000													13	93					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171509377	171509377	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:171509377G>A	ENST00000176763.5	-	12	2285	c.1942C>T	c.(1942-1944)Cgg>Tgg	p.R648W		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	648							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)			GTGTAGTCCCGATCCTGCTCC	0.592000													12	75					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102043127	102043127	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:102043127G>A	ENST00000549145.1	+	14	1350	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	MYBPC1_ENST00000550270.1_Missense_Mutation_p.G404E|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G404E|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G392E|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G390E|MYBPC1_ENST00000551300.1_Missense_Mutation_p.G305E|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G404E|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G404E|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G378E|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G429E|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G385E|RP11-755O11.2_ENST00000547027.1_RNA|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G429E|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G391E|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000553190.1_Missense_Mutation_p.G404E|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G404E			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	404	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATCATAGAGGGAGCAACAAAG	0.378000													7	103					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23932279	23932279	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:23932279G>A	ENST00000331837.4	-	1	171	c.86C>T	c.(85-87)tCg>tTg	p.S29L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	29					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AACCCCCTCCGAAACCCCAGG	0.687000									Prader-Willi syndrome				4	22					0	0	1	0	0
MAL2	114569	broad.mit.edu	37	8	120233909	120233909	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:120233909C>T	ENST00000276681.6	+	3	317	c.215C>T	c.(214-216)tCc>tTc	p.S72F	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	72	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			ATGTTTGTGTCCGTGACAGCG	0.473000													17	179					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219028987	219028987	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:219028987G>A	ENST00000295683.2	-	2	1068	c.948C>T	c.(946-948)ttC>ttT	p.F316F		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	316					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GGATCTTGAGGAATCCATGGC	0.527000													23	85					0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247180	142247180	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142247180G>A	ENST00000390361.3	-	0	325																											GAGTAGAGACGGATCCCTCAG	0.572000													17	73					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66053984	66053984	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:66053984C>T	ENST00000503581.1	-	10	2083	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	EYS_ENST00000370618.3_Missense_Mutation_p.D516N|EYS_ENST00000342421.5_Missense_Mutation_p.D516N|EYS_ENST00000370621.3_Missense_Mutation_p.D516N|EYS_ENST00000370616.2_Missense_Mutation_p.D516N|EYS_ENST00000393380.2_Missense_Mutation_p.D516N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	516					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTTCAGGATCGTTCACATAG	0.373000													4	65					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284311	152284311	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:152284311C>T	ENST00000368799.1	-	3	3086	c.3051G>A	c.(3049-3051)caG>caA	p.Q1017Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1017	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)			ATGACGCAGCCTGTCCACCAG	0.587000									Ichthyosis				97	402					0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985924	108985924	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:108985924G>A	ENST00000392806.3	-	2	404	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	79						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GTTGGTGGGGGGTGATGGGCC	0.657000													7	70					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161522950	161522950	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:161522950G>A	ENST00000392142.4	+	18	3849	c.3701G>A	c.(3700-3702)cGa>cAa	p.R1234Q	MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1180Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1230Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1184Q	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1234					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAAAATGATCGATTGGCTTCC	0.408000													7	25					0	0	1	0	0
GATA4	2626	broad.mit.edu	37	8	11615843	11615843	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:11615843C>T	ENST00000335135.4	+	7	1746	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	GATA4_ENST00000528712.1_Silent_p.I190I|GATA4_ENST00000532059.1_Silent_p.I397I	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	396					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		GGCCCTCCATCCACCCTGTCC	0.602000													11	98					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43927045	43927045	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:43927045G>A	ENST00000537548.1	-	8	1435	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	MATN4_ENST00000372754.1_Silent_p.F438F|MATN4_ENST00000372753.1_Silent_p.F248F|MATN4_ENST00000372751.4_Silent_p.F248F|MATN4_ENST00000342716.4_Silent_p.F397F|MATN4_ENST00000360607.5_Silent_p.F356F|MATN4_ENST00000372756.1_Silent_p.F397F|MATN4_ENST00000353917.5_Silent_p.F315F			O95460	MATN4_HUMAN	matrilin 4	438	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GACCCAGAGGGAACTCGGTGC	0.657000													6	45					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315892	50315892	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:50315892G>A	ENST00000332853.3	-	2	227	c.204C>T	c.(202-204)ttC>ttT	p.F68F	VSTM4_ENST00000298454.3_Silent_p.F68F	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	68	Ig-like.		F -> S (in dbSNP:rs13088).			integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CCTGGGAGTCGAAGGAGTGTG	0.607000													13	38					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21938988	21938988	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:21938988G>A	ENST00000328843.6	+	81	13136	c.13105G>A	c.(13105-13107)Gat>Aat	p.D4369N	DNAH11_ENST00000409508.3_Missense_Mutation_p.D4362N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4369					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCGAGAACTCGATACTTGGAC	0.502000									Kartagener syndrome				30	154					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65288560	65288560	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:65288560G>A	ENST00000284037.5	+	3	403	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R5Q|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R5Q|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R5Q|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R5Q|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.R5Q|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R5Q|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.R5Q|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.R5Q|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.R5Q	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	5					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ACTACAAAACGAAGTTTGTTT	0.363000													4	70					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54794676	54794676	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:54794676C>A	ENST00000293379.4	-	25	2858	c.2597G>T	c.(2596-2598)gGa>gTa	p.G866V	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	866					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GCAGTTGAGTCCCGTAACTCT	0.562000													5	16					0.184627	0.184743	1	1	0
LPHN2	23266	broad.mit.edu	37	1	82432206	82432206	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:82432206C>T	ENST00000370728.1	+	15	2895	c.2250C>T	c.(2248-2250)aaC>aaT	p.N750N	LPHN2_ENST00000370727.1_Silent_p.N750N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Silent_p.N737N|LPHN2_ENST00000271029.4_Silent_p.N750N|LPHN2_ENST00000394879.1_Silent_p.N737N|LPHN2_ENST00000370730.1_Silent_p.N750N|LPHN2_ENST00000319517.6_Silent_p.N737N|LPHN2_ENST00000370717.2_Silent_p.N750N|LPHN2_ENST00000370725.1_Silent_p.N750N|LPHN2_ENST00000335786.5_Silent_p.N750N|LPHN2_ENST00000359929.3_Silent_p.N737N|LPHN2_ENST00000370721.1_Silent_p.N675N|LPHN2_ENST00000370723.1_Silent_p.N737N|LPHN2_ENST00000370715.1_Silent_p.N737N			O95490	LPHN2_HUMAN	latrophilin 2	750					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.N737N(1)		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)		TTGCAGTGAACTCTCACGTCA	0.413000													13	151					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	169993919	169993919	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:169993919C>T	ENST00000263816.3	-	76	13888	c.13603G>A	c.(13603-13605)Gtg>Atg	p.V4535M		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4535					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGCTGAACCACTTTGACAGCA	0.428000													5	98					0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148903910	148903910	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:148903910C>T	ENST00000262085.3	+	3	813	c.708C>T	c.(706-708)tcC>tcT	p.S236S	ZNF282_ENST00000479907.1_Silent_p.S236S	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	236	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CCCTCATGTCCCTGGGTAAGG	0.478000													6	111					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67261496	67261496	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:67261496G>A	ENST00000356404.3	-	20	3130	c.2905C>T	c.(2905-2907)Cac>Tac	p.H969Y	PITPNM1_ENST00000436757.2_Missense_Mutation_p.H968Y|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000534749.1_Missense_Mutation_p.H969Y	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	969					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GTGCCAAAGTGGATCCACTTG	0.637000													5	44					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10312891	10312891	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10312891G>A	ENST00000403437.2	-	16	1696	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	534	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCAGGATGGAGAAGATGCCCA	0.463000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				14	47					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105377928	105377928	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:105377928G>A	ENST00000264122.4	-	19	3156	c.2835C>T	c.(2833-2835)gcC>gcT	p.A945A	CBLB_ENST00000394027.3_Silent_p.A923A|CBLB_ENST00000407712.1_Silent_p.A160A	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	945	UBA.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CCTCTTCAAAGGCATAACCCT	0.502000			Mis S		AML								21	75					0	0	1	0	0
LYZL6	57151	broad.mit.edu	37	17	34266253	34266253	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:34266253C>T	ENST00000585556.1	-	2	442	c.108G>A	c.(106-108)ttG>ttA	p.L36L	LYZL6_ENST00000394523.3_Silent_p.L36L|LYZL6_ENST00000293274.4_Silent_p.L36L			O75951	LYZL6_HUMAN	lysozyme-like 6	36					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAAACCCATCCAAGTCCTCCA	0.542000													17	55					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48264056	48264056	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:48264056C>T	ENST00000225964.5	-	48	3877	c.3759G>A	c.(3757-3759)aaG>aaA	p.K1253K		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1253	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGCGGGGTTCTTGCGGCTGC	0.627000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						27	131					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871974	51871974	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:51871974A>T	ENST00000371497.5	+	2	2864	c.1977A>T	c.(1975-1977)aaA>aaT	p.K659N	TSHZ2_ENST00000603338.2_Missense_Mutation_p.K656N|TSHZ2_ENST00000329613.6_Missense_Mutation_p.K656N	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	659					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCTGATGAAAGAGGGCAGCG	0.597000													13	65					0	0	1	0	0
SUCLG1	8802	broad.mit.edu	37	2	84652724	84652724	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:84652724G>A	ENST00000393868.2	-	8	1039	c.829C>T	c.(829-831)Cca>Tca	p.P277S	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	277					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TTGGAATTTGGACCCTAGAAA	0.433000													22	96					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38908914	38908914	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:38908914G>A	ENST00000302328.3	-	23	4047	c.3849C>T	c.(3847-3849)ctC>ctT	p.L1283L	SCN11A_ENST00000444237.2_Silent_p.L1283L|SCN11A_ENST00000456224.3_Silent_p.L1245L|SCN11A_ENST00000450244.1_Silent_p.L1283L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1283					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAATGTAACCGAGTGAATTGC	0.328000													3	42					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57931809	57931809	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:57931809C>T	ENST00000564448.1	-	30	3028	c.2968G>A	c.(2968-2970)Ggc>Agc	p.G990S	CNGB1_ENST00000251102.8_Missense_Mutation_p.G996S			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	996					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ATCTCACGGCCGATCTCCCCC	0.572000													10	127					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338293	28338293	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:28338293G>A	ENST00000284987.5	-	1	539	c.418C>T	c.(418-420)Ccc>Tcc	p.P140S		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	140					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGAGAGCGGGGACTACCGTCC	0.667000													4	22					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44932986	44932986	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:44932986C>T	ENST00000291187.4	-	6	2274	c.1952G>A	c.(1951-1953)aGa>aAa	p.R651K	ZNF229_ENST00000588931.1_Missense_Mutation_p.R657K|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCTTGGCATCTGTAAGGTTT	0.502000													25	136					0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111311748	111311748	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:111311748G>A	ENST00000308208.5	+	5	714	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	CCDC63_ENST00000552694.1_Missense_Mutation_p.E79K|CCDC63_ENST00000545036.1_Missense_Mutation_p.E118K|CCDC63_ENST00000550317.1_3'UTR	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	158										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TCACATTTTGGAAACCCGTTT	0.428000													10	79					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158606494	158606494	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158606494C>T	ENST00000368148.3	-	37	5427	c.5247G>A	c.(5245-5247)caG>caA	p.Q1749Q	SPTA1_ENST00000368147.3_Silent_p.Q1749Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1749					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAGCAAGTTCTGAACCCCCT	0.468000													25	108					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651261	84651261	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:84651261A>C	ENST00000286744.5	+	21	3105	c.2881A>C	c.(2881-2883)Atc>Ctc	p.I961L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.I961L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	961	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACGGCTTGGCATCACCAAGTC	0.537000													9	87					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55253991	55253991	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:55253991T>C	ENST00000337526.6	-	3	1487	c.1244A>G	c.(1243-1245)aAc>aGc	p.N415S	RTN4_ENST00000394611.2_Missense_Mutation_p.N209S|RTN4_ENST00000357376.3_Missense_Mutation_p.N209S|RTN4_ENST00000354474.6_Missense_Mutation_p.N183S|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.N209S|RTN4_ENST00000404909.1_Missense_Mutation_p.N209S|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	415					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ACTTTCCAAGTTGCTCTCGAT	0.383000													18	189					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157497543	157497543	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:157497543C>T	ENST00000361835.3	-	9	1981	c.1824G>A	c.(1822-1824)ggG>ggA	p.G608G	FCRL5_ENST00000368190.3_Silent_p.G608G|FCRL5_ENST00000368191.3_Silent_p.G523G|FCRL5_ENST00000356953.4_Silent_p.G608G	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	608	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTGAGCTGCTCCCCAGGGTGA	0.567000													5	101					0	0	1	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245391	137245391	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:137245391G>A	ENST00000331858.4	+	2	973	c.808G>A	c.(808-810)Ggc>Agc	p.G270S		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	270					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CATCACGGTGGGCATGGTGGC	0.582000													7	44					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140620	143140620	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:143140620C>T	ENST00000332690.1	+	1	75	c.75C>T	c.(73-75)ctC>ctT	p.L25L	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	25					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CCATTTTACTCCTTTTACGCC	0.488000													16	145					0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30327045	30327045	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:30327045G>A	ENST00000378970.4	-	1	670	c.436C>T	c.(436-438)Ctc>Ttc	p.L146F	NR0B1_ENST00000453287.1_Missense_Mutation_p.L146F	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	146	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	AAGCTGTAGAGGATGCTGCCC	0.692000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	18					0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49261257	49261257	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49261257C>G	ENST00000593756.1	+	4	982	c.410C>G	c.(409-411)tCc>tGc	p.S137C	FGF21_ENST00000222157.3_Missense_Mutation_p.S137C			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	137					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GTTTACCAGTCCGAAGCCCAC	0.617000													23	190					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71026984	71026984	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:71026984G>A	ENST00000318789.4	-	15	1868	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L	FOXP1_ENST00000498215.1_Missense_Mutation_p.S448L|FOXP1_ENST00000491238.1_Missense_Mutation_p.S450L|FOXP1_ENST00000475937.1_Missense_Mutation_p.S448L|FOXP1_ENST00000468577.1_Missense_Mutation_p.S448L|FOXP1_ENST00000484350.1_Missense_Mutation_p.S372L|FOXP1_ENST00000493089.1_Missense_Mutation_p.S448L	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	448					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TCTACCTGACGAAATGGGCAC	0.488000			T	PAX5	ALL								10	70					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27620574	27620574	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:27620574C>T	ENST00000319394.3	+	8	1259	c.724C>T	c.(724-726)Ctt>Ttt	p.L242F	WDTC1_ENST00000361771.3_Missense_Mutation_p.L242F	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	242							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GCAGAAACCCCTTCCGGACGG	0.547000													6	80					0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409615	17409615	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:17409615G>A	ENST00000339994.4	-	1	591	c.24C>T	c.(22-24)atC>atT	p.I8I	KCNJ11_ENST00000528731.1_Intron	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	0						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		ATTCCTCGGGGATGATGCCCT	0.672000													17	85					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37433933	37433933	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:37433933C>T	ENST00000374660.1	+	8	1335	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	ANKRD30A_ENST00000602533.1_Silent_p.F412F|ANKRD30A_ENST00000361713.1_Silent_p.F412F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	468						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATCAGAGGTTCCCATCAGAAT	0.254000													31	70					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158389793	158389793	+	Missense_Mutation	SNP	C	C	T	rs137874220	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:158389793C>T	ENST00000314902.2	-	1	863	c.864G>A	c.(862-864)atG>atA	p.M288I		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M288I(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGCTATAAATCATTGGGTTGA	0.368000													7	59					0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28793200	28793200	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:28793200C>T	ENST00000373839.3	+	6	1005	c.744C>T	c.(742-744)agC>agT	p.S248S	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.S258S	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	248	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CTACCCCAAGCCTCACTCATA	0.537000													23	77					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451694	19451694	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:19451694G>A	ENST00000396229.2	+	3	1083	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	TMC5_ENST00000542583.2_Missense_Mutation_p.E112K|TMC5_ENST00000541464.1_Missense_Mutation_p.E112K|TMC5_ENST00000381414.4_Missense_Mutation_p.E112K	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	112						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGATTATAGTGAATTTCAGAG	0.488000													44	242					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71092047	71092047	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:71092047G>A	ENST00000283228.2	-	8	1729	c.1277C>T	c.(1276-1278)cCa>cTa	p.P426L	PTPRR_ENST00000549308.1_Missense_Mutation_p.P181L|PTPRR_ENST00000342084.4_Missense_Mutation_p.P314L|PTPRR_ENST00000440835.2_Missense_Mutation_p.P181L|PTPRR_ENST00000378778.1_Missense_Mutation_p.P220L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	426	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AAGCTTACTTGGTAAAATGGT	0.368000													5	35					0	0	1	0	0
BMI1	648	broad.mit.edu	37	10	22617070	22617070	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:22617070C>T	ENST00000376663.3	+	7	938	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.R288W	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						TAGATTGGATCGGAAAGTAAA	0.284000													4	43					0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13279627	13279627	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:13279627G>A	ENST00000262487.3	+	6	922	c.916G>A	c.(916-918)Gag>Aag	p.E306K	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	306	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CTGCAAAAGCGAGTTCTTAAA	0.562000													3	38					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107911614	107911614	+	Missense_Mutation	SNP	G	G	A	rs104886391		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:107911614G>A	ENST00000328300.6	+	41	3914	c.3670G>A	c.(3670-3672)Gaa>Aaa	p.E1224K	COL4A5_ENST00000361603.2_Missense_Mutation_p.E1224K	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1224	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCAAAGGGCGAACCAGGCTT	0.532000									Alport syndrome with Diffuse Leiomyomatosis				7	19					0	0	1	0	0
PITPNA	5306	broad.mit.edu	37	17	1444893	1444893	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:1444893G>A	ENST00000313486.7	-	6	594	c.339C>T	c.(337-339)acC>acT	p.T113T	PITPNA_ENST00000539476.1_Silent_p.T113T	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	113					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		GTTTGTGCCAGGTTTCAATTT	0.443000													5	26					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358406	72358406	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:72358406C>T	ENST00000441259.1	-	3	1231	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R	PRF1_ENST00000373209.2_Silent_p.R357R	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	357	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCAGTGCCTCCCGCCGCGGGT	0.697000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				5	35					0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72938055	72938055	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:72938055G>A	ENST00000328801.4	+	3	550	c.550G>A	c.(550-552)Gat>Aat	p.D184N		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	184						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGTGGGCTACGATGTGAGCCA	0.602000													4	28					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69053129	69053129	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:69053129G>A	ENST00000295381.3	+	11	2160	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E582K|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E275K|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E542K|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E575K|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E574K	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	581					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCTTGAGAAGGAAAATTATGA	0.453000													6	37					0	0	1	0	0
C19orf44	84167	broad.mit.edu	37	19	16613961	16613961	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:16613961C>T	ENST00000221671.3	+	3	1001	c.845C>T	c.(844-846)tCc>tTc	p.S282F	C19orf44_ENST00000594035.1_Missense_Mutation_p.S282F|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	282										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CTGCCAACCTCCCTGGCAGCA	0.542000													13	54					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37283664	37283664	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:37283664G>A	ENST00000233099.5	-	16	2413	c.2318C>T	c.(2317-2319)cCc>cTc	p.P773L	HEATR5B_ENST00000354531.2_Missense_Mutation_p.P773L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	773							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GAGAGGGAGGGGACCAGGTAC	0.478000													8	90					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59283854	59283854	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:59283854G>A	ENST00000320743.3	-	5	869	c.583C>T	c.(583-585)Ctt>Ttt	p.L195F	LRIG3_ENST00000379141.4_Missense_Mutation_p.L135F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	195						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTAACACAAGGAGTGTGTTG	0.418000			T	ROS1	NSCLC								18	158					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579440	55579440	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55579440C>T	ENST00000333973.2	+	1	587	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTCTTAGGATCCCCTTCTATA	0.453000													8	152					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40065273	40065273	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:40065273C>T	ENST00000352035.2	-	6	715	c.585G>A	c.(583-585)ttG>ttA	p.L195L	ACLY_ENST00000353196.1_Silent_p.L195L|ACLY_ENST00000393896.2_Silent_p.L195L|ACLY_ENST00000590151.1_Silent_p.L195L|ACLY_ENST00000537919.1_Intron	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	195					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				AGGTGAAGTACAAGTCCTCGT	0.557000													3	24					0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815820	179815820	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:179815820G>A	ENST00000367612.3	-	6	1186	c.799C>T	c.(799-801)Cca>Tca	p.P267S		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	267						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CTCTGGCCTGGAAATTTATCT	0.493000													14	74					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121994790	121994790	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121994790C>T	ENST00000498619.1	+	5	1947	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	CASR_ENST00000296154.5_Silent_p.I503I|CASR_ENST00000490131.1_Silent_p.I503I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	503					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ATGGCTCCATCGTGTTTAAGG	0.507000													27	108					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064483	9064483	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9064483G>A	ENST00000397910.4	-	3	23166	c.22963C>T	c.(22963-22965)Cag>Tag	p.Q7655*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7657	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						GGAAATCCCTGAATTACTATA	0.507000													12	39					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102124531	102124531	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:102124531C>T	ENST00000369138.1	+	4	1065	c.575C>T	c.(574-576)cCa>cTa	p.P192L	GRIK2_ENST00000413795.1_Missense_Mutation_p.P192L|GRIK2_ENST00000369134.4_Missense_Mutation_p.P143L|GRIK2_ENST00000421544.1_Missense_Mutation_p.P192L|GRIK2_ENST00000358361.3_Missense_Mutation_p.P192L|GRIK2_ENST00000318991.6_Missense_Mutation_p.P192L|GRIK2_ENST00000369137.3_Missense_Mutation_p.P192L	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	192					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)	ATCAAAGCTCCATCAAGGTAT	0.333000													3	40					0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88421072	88421072	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:88421072G>A	ENST00000372071.2	+	8	1260	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	OPN4_ENST00000241891.5_Missense_Mutation_p.V334M	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	334					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CATGAGCTCGGTGCCAGCCGT	0.582000													4	75					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64708943	64708943	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:64708943C>T	ENST00000338957.4	+	1	329	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R77C	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	77							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGCCTAGATCGTCCAAGTTT	0.502000													14	52					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31301876	31301876	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:31301876G>A	ENST00000332585.6	+	13	2532	c.2428G>A	c.(2428-2430)Gag>Aag	p.E810K	OSBP2_ENST00000407373.1_Missense_Mutation_p.E637K|OSBP2_ENST00000403222.3_Missense_Mutation_p.E644K|OSBP2_ENST00000437268.2_Missense_Mutation_p.E552K|OSBP2_ENST00000401475.1_Missense_Mutation_p.E443K|OSBP2_ENST00000382310.3_Missense_Mutation_p.E761K|OSBP2_ENST00000446658.2_Missense_Mutation_p.E809K|OSBP2_ENST00000535268.1_Missense_Mutation_p.E354K	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	810					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GACCCTCAACGAGCACGAGGA	0.672000													4	39					0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912021	87912021	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:87912021A>G	ENST00000380079.4	-	3	1020	c.919T>C	c.(919-921)Tac>Cac	p.Y307H	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.Y307H|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000595121.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	307	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ACAAGTGTGTAGAGGACATGA	0.443000													6	52					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50607697	50607697	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:50607697G>A	ENST00000444124.2	-	3	431	c.231C>T	c.(229-231)ttC>ttT	p.F77F	AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Silent_p.F77F|DDC_ENST00000357936.5_Silent_p.F77F|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Silent_p.F77F|DDC_ENST00000489162.1_5'UTR	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	77	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GGAAGTAGGCGAAGAAGTAGG	0.642000													7	25					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621749	171621749	+	Translation_Start_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:171621749C>T	ENST00000037502.5	-	1	62	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	1					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.M1I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGAAGAACCTCATTGCAGAGG	0.612000													4	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598207	179598207	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179598207C>T	ENST00000589042.1	-	54	16037	c.15813G>A	c.(15811-15813)caG>caA	p.Q5271Q	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.Q4954Q|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.Q4027Q|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4954	Ig-like 33.						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)			CTGCTGTCACCTGGATCAGTT	0.473000													12	209					0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945978	72945978	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:72945978C>T	ENST00000311131.2	+	3	1241	c.774C>T	c.(772-774)ttC>ttT	p.F258F	P2RY2_ENST00000393597.2_Silent_p.F258F|P2RY2_ENST00000393596.2_Silent_p.F258F	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	258					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCCTCTGCTTCCTGCCATTCC	0.637000													10	78					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151393284	151393284	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151393284C>T	ENST00000370314.4	-	6	823	c.585G>A	c.(583-585)ttG>ttA	p.L195L	GABRA3_ENST00000535043.1_Silent_p.L195L|GABRA3_ENST00000370311.1_Silent_p.L195L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	195					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAAAATCTTCCAAATGCATGG	0.373000													11	59					0	0	1	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262659	159262659	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:159262659G>A	ENST00000522287.1	-	0	684					NR_028496.1																						GGATTGGACAGCCTTTAAACT	0.403000													4	50					0	0	1	0	0
TMEM169	92691	broad.mit.edu	37	2	216965075	216965075	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:216965075C>T	ENST00000454545.1	+	4	1030	c.704C>T	c.(703-705)tCg>tTg	p.S235L	TMEM169_ENST00000406027.2_Missense_Mutation_p.S235L|TMEM169_ENST00000295658.4_Missense_Mutation_p.S235L|TMEM169_ENST00000437356.2_Missense_Mutation_p.S235L	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	235						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCAGCTCTCGTGGTCCTGG	0.582000													23	124					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46830681	46830681	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:46830681C>T	ENST00000283296.7	-	15	2431	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	GPR116_ENST00000362015.4_Missense_Mutation_p.E715K|GPR116_ENST00000265417.7_Missense_Mutation_p.E715K|GPR116_ENST00000545669.1_Missense_Mutation_p.E144K|GPR116_ENST00000456426.2_Missense_Mutation_p.E573K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	715					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTCTCTTCTCCTCCCACTGG	0.522000													9	210					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63024834	63024834	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:63024834G>A	ENST00000251157.5	-	20	2290	c.2257C>T	c.(2257-2259)Cca>Tca	p.P753S	DOCK7_ENST00000340370.5_Missense_Mutation_p.P753S	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	753	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATTCGGACTGGGAACAGGTGT	0.383000													15	39					0	0	1	0	0
GCG	2641	broad.mit.edu	37	2	163002090	163002090	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:163002090C>T	ENST00000418842.2	-	4	606	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	GCG_ENST00000375497.3_Missense_Mutation_p.E118K	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	118					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	GCAATGAATTCCTTGGCAGCT	0.418000													11	134					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389122	48389122	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:48389122C>T	ENST00000224600.4	-	1	1869	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	586	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGCTGCCTTCGGGTGTGTCC	0.672000													17	69					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390038	107390038	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:107390038G>A	ENST00000429433.2	-	5	3006	c.2357C>T	c.(2356-2358)gCc>gTc	p.A786V	BEND3_ENST00000369042.1_Missense_Mutation_p.A786V	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	786	BEN 4.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CGGGTAGACGGCTTCCACGTA	0.602000													6	75					0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171154963	171154963	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:171154963T>C	ENST00000441535.1	+	2	228	c.111T>C	c.(109-111)atT>atC	p.I37I	FMO2_ENST00000529935.1_Intron|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Silent_p.I37I	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	37					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGAAGATATTGGAGGAGTGT	0.453000													24	144					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131560	142131560	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142131560G>A	ENST00000390375.2	-	0	235																											AATACTGAAAGATAAACTGGG	0.507000													8	80					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52918723	52918723	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:52918723C>T	ENST00000360465.3	+	7	1044	c.618C>T	c.(616-618)atC>atT	p.I206I	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ACCAAGTAATCCATAACGCAG	0.403000													12	63					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166996154	166996154	+	Splice_Site	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:166996154A>G	ENST00000061240.2	+	17	2960	c.2314_splice	c.e17+1	p.E771_splice	TLL1_ENST00000507499.1_Splice_Site_p.E794_splice	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	771					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTGCAAGGAAGGTATGGAAC	0.398000													21	98					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271504	59271504	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:59271504C>T	ENST00000313253.1	+	1	456	c.456C>T	c.(454-456)ggC>ggT	p.G152G		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGATGGGGGGCTTTGTCCACT	0.547000													11	124					0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43668348	43668348	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:43668348G>A	ENST00000564079.1	+	2	371	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	TUBGCP4_ENST00000260383.7_Missense_Mutation_p.R44Q|TUBGCP4_ENST00000570081.1_3'UTR	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	44					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTCCTGAATCGACTCTGCCGG	0.562000											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	99					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161221468	161221468	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:161221468C>T	ENST00000327928.4	+	4	1172	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	391	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TATGTTTTTTCCTACCATATT	0.433000													4	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639842	179639842	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179639842G>A	ENST00000589042.1	-	29	6820	c.6596C>T	c.(6595-6597)tCa>tTa	p.S2199L	TTN_ENST00000460472.2_Missense_Mutation_p.S2153L|TTN_ENST00000359218.5_Missense_Mutation_p.S2153L|TTN_ENST00000591111.1_Missense_Mutation_p.S2199L|TTN_ENST00000360870.5_Missense_Mutation_p.S2199L|TTN_ENST00000342175.6_Missense_Mutation_p.S2153L|TTN_ENST00000342992.6_Missense_Mutation_p.S2199L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1950	Ig-like 11.						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)			AAATGGTTCTGAAGTTTCACA	0.388000													4	58					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124402704	124402704	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:124402704C>T	ENST00000338354.3	+	53	7138	c.7032C>T	c.(7030-7032)ttC>ttT	p.F2344F	DMBT1_ENST00000368955.3_Silent_p.F2334F|DMBT1_ENST00000330163.4_Silent_p.F1716F|DMBT1_ENST00000344338.3_Silent_p.F2334F|DMBT1_ENST00000368909.3_Silent_p.F2344F|DMBT1_ENST00000359586.6_Silent_p.F1064F|DMBT1_ENST00000368956.2_Silent_p.F1716F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2344	ZP.				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)				GCTTCCGGTTCAGGGCCTTCC	0.582000													10	96					0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125563283	125563283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:125563283G>A	ENST00000277309.2	+	1	914	c.882G>A	c.(880-882)tgG>tgA	p.W294*		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ACAGCCTCTGGAATCGCGATG	0.602000													8	67					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780659	94780659	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94780659G>A	ENST00000341584.3	-	2	473	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	109					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCAGGTGCTGGAAACCCTGGT	0.557000													4	37					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3000155	3000155	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:3000155G>A	ENST00000520002.1	-	42	6631	c.6076C>T	c.(6076-6078)Cat>Tat	p.H2026Y	CSMD1_ENST00000602723.1_Missense_Mutation_p.H2026Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.H2025Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.H2025Y|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.H2026Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.H2025Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.H2026Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2026	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGAAGTCATGATTAGCTTCG	0.413000													21	116					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872281	51872281	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:51872281G>A	ENST00000371497.5	+	2	3171	c.2284G>A	c.(2284-2286)Gat>Aat	p.D762N	TSHZ2_ENST00000603338.2_Missense_Mutation_p.D759N|TSHZ2_ENST00000329613.6_Missense_Mutation_p.D759N	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	762					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGAGAACAGCGATCAGCCCAT	0.532000													16	88					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287786	46287786	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:46287786G>A	ENST00000378966.3	+	2	934	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	SPERT_ENST00000310521.1_Missense_Mutation_p.R209Q			Q8NA61	SPERT_HUMAN	spermatid associated	209						cytoplasmic membrane-bounded vesicle		p.R209Q(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TCGCTGGGCCGAGAGGAGAGC	0.652000													6	49					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36552919	36552919	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:36552919C>T	ENST00000431169.1	-	22	2086	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	AOAH_ENST00000538464.1_Missense_Mutation_p.G278E|AOAH_ENST00000535891.1_Missense_Mutation_p.G524E|AOAH_ENST00000258749.5_Missense_Mutation_p.G556E	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ATTCTCCTTTCCCAGGATTTG	0.557000													18	100					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88533290	88533290	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:88533290G>A	ENST00000399271.1	+	3	205	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	DSPP_ENST00000282478.7_Missense_Mutation_p.E29K|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	29					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAGACATGTCGAAAAATCCAT	0.368000													3	24					0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35532654	35532654	+	Splice_Site	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:35532654T>A	ENST00000262878.4	-	13	1610		c.e13-2			NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1						defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATAGTCCTCCTGGAAAACACA	0.393000													14	70					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029451	219029451	+	Missense_Mutation	SNP	C	C	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:219029451C>G	ENST00000295683.2	-	2	604	c.484G>C	c.(484-486)Gga>Cga	p.G162R		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	162					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						ATAGACAGTCCCCAGCAGCCA	0.527000													7	30					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9400492	9400492	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:9400492G>A	ENST00000378501.2	+	22	2069	c.2054G>A	c.(2053-2055)cGa>cAa	p.R685Q	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.R685Q|PLCB4_ENST00000334005.3_Missense_Mutation_p.R685Q|PLCB4_ENST00000414679.2_Missense_Mutation_p.R697Q|PLCB4_ENST00000378473.3_Missense_Mutation_p.R697Q|PLCB4_ENST00000378493.1_Missense_Mutation_p.R685Q	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	685					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CGGCCTGATCGAACATTTGAC	0.438000													6	129					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196577421	196577421	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:196577421C>T	ENST00000367433.5	-	1	120	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	KCNT2_ENST00000294725.8_Missense_Mutation_p.E7K|KCNT2_ENST00000367431.4_Missense_Mutation_p.E7K|KCNT2_ENST00000451324.2_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	7						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGGGCACTTCGCTCTCCAAA	0.502000													7	59					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6926418	6926418	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:6926418C>T	ENST00000312053.4	+	16	2065	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F	EMR1_ENST00000450315.3_Silent_p.F499F|EMR1_ENST00000250572.8_Silent_p.F611F|EMR1_ENST00000381407.5_Silent_p.F535F|EMR1_ENST00000381404.4_Silent_p.F624F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	676					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)					ACTACCTTTTCCTTGCCTGCT	0.522000													11	63					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583655	82583655	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82583655C>T	ENST00000423517.2	-	5	6951	c.6614G>A	c.(6613-6615)aGc>aAc	p.S2205N	PCLO_ENST00000333891.8_Missense_Mutation_p.S2205N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2136					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						TGTGGTTATGCTATCCAGGGT	0.418000													9	31					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177071078	177071078	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:177071078G>A	ENST00000393643.2	+	14	2270	c.2018G>A	c.(2017-2019)aGa>aAa	p.R673K	WDR17_ENST00000508596.1_Missense_Mutation_p.R673K|WDR17_ENST00000507824.2_Missense_Mutation_p.R680K|WDR17_ENST00000280190.4_Missense_Mutation_p.R697K	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	697										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTGGCAGACAGATCTTGGGAA	0.383000													8	102					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43609989	43609989	+	Silent	SNP	C	C	T	rs75225191		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:43609989C>T	ENST00000355710.3	+	11	2173	c.1941C>T	c.(1939-1941)atC>atT	p.I647I	RET_ENST00000340058.5_Silent_p.I647I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	647				I -> V (in Ref. 6; AAA36786).	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCTCCTTCATCGTCTCGGTGC	0.627000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				7	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596871	179596871	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179596871C>T	ENST00000589042.1	-	57	17049	c.16825G>A	c.(16825-16827)Gaa>Aaa	p.E5609K	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5292K|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4365K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5292	Ig-like 37.						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)			CCACTGTCTTCGATGCCAACA	0.423000													35	125					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4953920	4953920	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:4953920A>G	ENST00000345988.2	-	3	373	c.284T>C	c.(283-285)aTg>aCg	p.M95T	PPL_ENST00000590782.2_Missense_Mutation_p.M95T	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	95					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGGGTGCTTCATGTGCTTGGC	0.632000													15	92					0	0	1	0	0
TRAV20	28663	broad.mit.edu	37	14	22508914	22508914	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22508914G>A	ENST00000390448.3	+	0	75																											CCAGCATGGAGAAAATGTTGG	0.418000													8	87					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54403937	54403937	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:54403937G>A	ENST00000263431.3	+	14	1791	c.1509G>A	c.(1507-1509)aaG>aaA	p.K503K	PRKCG_ENST00000542049.1_Silent_p.K390K|PRKCG_ENST00000540413.1_Silent_p.K503K	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	503	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GCATGTGTAAGGAGAACGTCT	0.592000													56	298					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784540	151784540	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:151784540G>A	ENST00000255262.3	-	1	300	c.135C>T	c.(133-135)ttC>ttT	p.F45F	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	45					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ACACGGGGAGGAAGAAGTGGC	0.547000													5	61					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825570	26825570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:26825570C>T	ENST00000541819.2	-	7	848	c.746G>A	c.(745-747)tGg>tAg	p.W249*	GABRB3_ENST00000545868.1_Nonsense_Mutation_p.W108*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.W122*|GABRB3_ENST00000299267.4_Nonsense_Mutation_p.W193*|GABRB3_ENST00000311550.5_Nonsense_Mutation_p.W193*			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	193					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCCGCCTCGCCAGTAAAACTC	0.517000													5	85					0	0	1	0	0
TMEM14B	81853	broad.mit.edu	37	6	10751400	10751400	+	Silent	SNP	C	C	T	rs115801751	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:10751400C>T	ENST00000467317.1	+	4	230	c.135C>T	c.(133-135)ttC>ttT	p.F45F	TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000379542.5_Silent_p.F45F|TMEM14B_ENST00000481240.1_Intron|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000473276.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000461342.1_Intron|TMEM14B_ENST00000475942.1_Silent_p.F45F|TMEM14B_ENST00000379530.3_Intron			Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	45						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				GGCTGCTCTTCGGCAGTCTAG	0.542000													7	72					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12814300	12814300	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:12814300C>T	ENST00000425528.1	-	20	2508	c.2151G>A	c.(2149-2151)gaG>gaA	p.E717E	TNPO2_ENST00000450764.2_Silent_p.E717E|TNPO2_ENST00000588216.1_Silent_p.E717E|TNPO2_ENST00000356861.5_Silent_p.E717E|TNPO2_ENST00000441499.1_Silent_p.E717E|TNPO2_ENST00000592287.1_Silent_p.E717E			O14787	TNPO2_HUMAN	transportin 2	717				E -> K (in Ref. 1; AAB83973).	intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGGAGATGAACTCTGGGTTCA	0.597000													22	112					0	0	1	0	0
EDARADD	128178	broad.mit.edu	37	1	236645763	236645763	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:236645763C>T	ENST00000359362.5	+	6	646	c.432C>T	c.(430-432)tgC>tgT	p.C144C	EDARADD_ENST00000334232.4_Silent_p.C154C	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	154	Death.				cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACGAATTGTGCTTCCTGGAGC	0.537000													6	93					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151336775	151336775	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151336775G>A	ENST00000370314.4	-	10	1642	c.1404C>T	c.(1402-1404)gcC>gcT	p.A468A	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000370311.1_Silent_p.A468A|GABRA3_ENST00000535043.1_Silent_p.A468A	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	468					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATTGAATATGGCAAAGAGCA	0.507000													17	58					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131984464	131984464	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:131984464G>A	ENST00000356920.5	+	4	973	c.879G>A	c.(877-879)aaG>aaA	p.K293K	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.K303K	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	293							ATP binding										TTTTAATCAAGAAAAAAGCGA	0.343000													10	133					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133494306	133494306	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:133494306C>T	ENST00000402696.3	+	15	2202	c.1717C>T	c.(1717-1719)Ctg>Ttg	p.L573L	TF_ENST00000264998.3_Silent_p.L446L	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	573	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGCTAAGAATCTGAATGAAAA	0.527000													36	108					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37899207	37899207	+	Silent	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:37899207T>A	ENST00000309156.4	+	4	620	c.363T>A	c.(361-363)ggT>ggA	p.G121G	GRB7_ENST00000445327.2_Silent_p.G144G|GRB7_ENST00000394209.2_Silent_p.G121G|GRB7_ENST00000394204.1_Silent_p.G121G|GRB7_ENST00000394211.3_Silent_p.G121G|GRB7_ENST00000578702.1_Intron|GRB7_ENST00000309185.3_Silent_p.G121G	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	121	Ras-associating.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGCAGCAGGTGCCACAGCTC	0.627000													11	57					0	0	1	0	0
SUCLG2	8801	broad.mit.edu	37	3	67570996	67570996	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:67570996C>T	ENST00000307227.5	-	5	507	c.480G>A	c.(478-480)cgG>cgA	p.R160R	SUCLG2_ENST00000493112.1_Silent_p.R160R|SUCLG2_ENST00000492795.1_Silent_p.R160R	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	160	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CATTGCAGGACCGGTCCATCA	0.502000													16	116					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43576027	43576027	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43576027C>T	ENST00000406487.1	-	4	887	c.789G>A	c.(787-789)gcG>gcA	p.A263A		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	263	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.A263A(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTTAGAGTTCGCGAAGCAAG	0.443000													28	176					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829573	57829573	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:57829573C>T	ENST00000371030.2	+	5	4809	c.4809C>T	c.(4807-4809)gtC>gtT	p.V1603V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1603						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)					AAATGACTGTCCCCTGCCCCT	0.502000													11	101					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351265	40351265	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:40351265C>T	ENST00000310169.2	+	4	871	c.732C>T	c.(730-732)ctC>ctT	p.L244L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	244					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TCGTCAACCTCCTCATCCCAT	0.517000													35	431					0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65541250	65541250	+	Silent	SNP	G	G	A	rs151327457		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:65541250G>A	ENST00000356388.4	-	6	831	c.642C>T	c.(640-642)atC>atT	p.I214I	SPRED2_ENST00000443619.2_Silent_p.I211I	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	214	KBD.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	p.I214I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TGATGCGCACGATCTCCTCGT	0.622000													8	35					0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136265574	136265574	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:136265574T>A	ENST00000371957.3	+	12	1222	c.1115T>A	c.(1114-1116)gTg>gAg	p.V372E	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	372							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTGGAGGTGGTGGTCACGACC	0.657000													14	36					0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683187	140683187	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:140683187G>A	ENST00000239451.4	-	1	425	c.246C>T	c.(244-246)ttC>ttT	p.F82F		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	82					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CGTAGCACATGAAGAGGACCG	0.587000													11	78					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51944770	51944770	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:51944770G>A	ENST00000371117.3	-	5	593	c.318C>T	c.(316-318)ttC>ttT	p.F106F	PKHD1_ENST00000340994.4_Silent_p.F106F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	106	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGCTTCCAGGAAGTACAGAC	0.483000													11	172					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242206224	242206224	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:242206224G>A	ENST00000391975.1	-	3	288	c.61C>T	c.(61-63)Ccg>Tcg	p.P21S	HDLBP_ENST00000391976.2_Missense_Mutation_p.P21S|HDLBP_ENST00000427183.2_Missense_Mutation_p.P57S|HDLBP_ENST00000310931.4_Missense_Mutation_p.P21S	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	21					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATTTGTTGCGGAACCAGCCCA	0.468000													7	72					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428870	10428870	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10428870C>T	ENST00000245503.5	-	32	4819	c.4435G>A	c.(4435-4437)Gag>Aag	p.E1479K	MYH2_ENST00000397183.2_Missense_Mutation_p.E1479K|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1479					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						GAACGGGCCTCCTTCTGGGAG	0.468000													6	45					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29005422	29005422	+	Missense_Mutation	SNP	C	C	T	rs141286646		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:29005422C>T	ENST00000282397.4	-	7	1090	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	FLT1_ENST00000541932.1_Missense_Mutation_p.R280Q|FLT1_ENST00000539099.1_Missense_Mutation_p.R280Q	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	280	Ig-like C2-type 3.				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)	GTCAATTCGTCGCCTTACGGA	0.338000													5	36					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7972128	7972128	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:7972128C>T	ENST00000543909.1	-	14	1849	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	SLC2A14_ENST00000396589.2_Missense_Mutation_p.G364R|SLC2A14_ENST00000542505.1_Missense_Mutation_p.G5R|SLC2A14_ENST00000539924.1_Missense_Mutation_p.G379R|SLC2A14_ENST00000542546.1_Missense_Mutation_p.G255R|SLC2A14_ENST00000535295.1_Missense_Mutation_p.G255R|SLC2A14_ENST00000431042.2_Missense_Mutation_p.G341R|SLC2A14_ENST00000340749.5_Missense_Mutation_p.G341R			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	364					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCCATCCCTCCAAGGCCTATC	0.418000													5	52					0	0	1	0	0
LY86	9450	broad.mit.edu	37	6	6626600	6626600	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:6626600C>T	ENST00000379953.2	+	4	650	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	LY86_ENST00000230568.4_Missense_Mutation_p.P100S			O95711	LY86_HUMAN	lymphocyte antigen 86	100					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TTTCTCCTATCCCATCTGTGA	0.483000													5	51					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107815055	107815055	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:107815055C>T	ENST00000328300.6	+	8	697	c.453C>T	c.(451-453)atC>atT	p.I151I	COL4A5_ENST00000361603.2_Silent_p.I151I	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	151	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCCCTGGGATCCCAGGTATGA	0.343000									Alport syndrome with Diffuse Leiomyomatosis				13	26					0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12952812	12952812	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:12952812G>A	ENST00000235347.4	-	4	1439	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	454										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGGACGGGACCAAAGAAG	0.532000													13	31					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117116893	117116893	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:117116893G>A	ENST00000310357.3	-	5	1675	c.1654C>T	c.(1654-1656)Cat>Tat	p.H552Y	GPRC6A_ENST00000530250.1_Missense_Mutation_p.H377Y|GPRC6A_ENST00000368549.3_Missense_Mutation_p.H481Y	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	552					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)		TTAGTGTAATGATTTTCAGGA	0.363000													9	104					0	0	1	0	0
OSTN	344901	broad.mit.edu	37	3	190967872	190967872	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:190967872C>T	ENST00000339051.1	+	3	364	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	122					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		CCCCATGGATCGGATTGGTAG	0.353000													27	62					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21698751	21698751	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:21698751C>T	ENST00000388958.3	+	7	418	c.417C>T	c.(415-417)atC>atT	p.I139I	OTOA_ENST00000388956.4_Silent_p.I60I|OTOA_ENST00000286149.4_Silent_p.I139I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	139					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AAGACATCATCATCGACTTAG	0.517000													24	106					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940120	31940120	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31940120G>A	ENST00000375331.2	+	2	428	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	STK19_ENST00000375333.2_Missense_Mutation_p.E88K	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	88						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.E88K(1)		skin(5)|upper_aerodigestive_tract(2)	7						CTCTGCGCCGGAAGACCCTAT	0.582000													6	117					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269686	150269686	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150269686A>G	ENST00000255945.2	+	3	703	c.528A>G	c.(526-528)caA>caG	p.Q176Q	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.Q190Q	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	176							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGACATTCAAGACTTGATGG	0.493000													6	109					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120483292	120483292	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:120483292G>A	ENST00000256646.2	-	19	3288	c.3069C>T	c.(3067-3069)ctC>ctT	p.L1023L		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1023	EGF-like 26; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATCTCATGGAGGCAGAAGG	0.522000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				28	74					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206842	58206842	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:58206842G>A	ENST00000302572.2	-	1	804	c.783C>T	c.(781-783)aaC>aaT	p.N261N		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AATGGCTGGAGTTAGGTCGTA	0.463000													3	39					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806543	54806543	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:54806543G>A	ENST00000306858.7	+	5	2890	c.2774G>A	c.(2773-2775)cGa>cAa	p.R925Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	925										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAGCTTCTACGATCTCATTCA	0.438000													20	86					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53074101	53074101	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:53074101G>A	ENST00000276480.7	-	14	2111	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	476						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)				ACGGGAAATTGAATTCAATTT	0.418000													16	60					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138417781	138417781	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:138417781G>A	ENST00000310018.2	-	17	2031	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	ATP6V0A4_ENST00000393054.1_Silent_p.I583I|ATP6V0A4_ENST00000353492.4_Silent_p.I583I	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	583					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						ACAGACACAGGATAAAAATCA	0.428000													30	46					0	0	1	0	0
RNF24	11237	broad.mit.edu	37	20	3914733	3914733	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:3914733G>A	ENST00000336095.5	-	6	675	c.424C>T	c.(424-426)Cct>Tct	p.P142S	RNF24_ENST00000432261.2_Missense_Mutation_p.P163S|RNF24_ENST00000545616.1_Missense_Mutation_p.P163S|RNF24_ENST00000358395.6_Missense_Mutation_p.P142S	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	142						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						TCTGCCCCAGGAAGGGGCCCC	0.567000													16	84					0	0	1	0	0
C9orf135	138255	broad.mit.edu	37	9	72521021	72521021	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:72521021C>T	ENST00000377197.3	+	6	746	c.659C>T	c.(658-660)cCc>cTc	p.P220L	C9orf135_ENST00000527647.1_3'UTR|C9orf135_ENST00000466872.2_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	220						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						AAACTCTATCCCTTGACTAGT	0.353000													12	45					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44932133	44932133	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:44932133G>A	ENST00000296125.4	+	4	407	c.339G>A	c.(337-339)ctG>ctA	p.L113L		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	113					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATGCCATCCTGGGCAAGTACC	0.463000													7	67					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184100211	184100211	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:184100211C>T	ENST00000204604.1	+	7	980	c.734C>T	c.(733-735)tCt>tTt	p.S245F	CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000450923.1_Missense_Mutation_p.S245F|CHRD_ENST00000348986.3_Missense_Mutation_p.S245F|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	245	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTCGGTTGTCTCTGCGGCTC	0.627000													44	235					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845187	123845187	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:123845187C>T	ENST00000369005.1	+	4	3512	c.3172C>T	c.(3172-3174)Ccc>Tcc	p.P1058S	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.P1058S|TACC2_ENST00000334433.3_Missense_Mutation_p.P1058S|TACC2_ENST00000515273.1_Missense_Mutation_p.P1058S|TACC2_ENST00000515603.1_Missense_Mutation_p.P1058S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1058						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)				GGATGCAGTTCCCTGCCTGCC	0.627000													10	59					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142539804	142539804	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:142539804C>T	ENST00000295992.3	-	8	1339	c.1033G>A	c.(1033-1035)Gga>Aga	p.G345R	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.G265E	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	345	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCCAAATTTCCCTCTTTGTAG	0.502000													6	27					0	0	1	0	0
GDF15	9518	broad.mit.edu	37	19	18497266	18497266	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:18497266C>T	ENST00000595973.1	+	2	818	c.267C>T	c.(265-267)ctC>ctT	p.L89L	GDF15_ENST00000252809.3_Silent_p.L89L			Q99988	GDF15_HUMAN	growth differentiation factor 15	89					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						TCCGGATACTCACGCCAGAAG	0.577000													6	27					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168310311	168310311	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:168310311G>A	ENST00000519560.1	-	5	863	c.444C>T	c.(442-444)atC>atT	p.I148I	SLIT3_ENST00000404867.3_Silent_p.I148I|SLIT3_ENST00000332966.8_Silent_p.I148I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	148					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTCCTCGGGATCCCCTGGA	0.473000													5	64					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791468	51791468	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:51791468G>A	ENST00000251076.5	-	18	4240	c.3953C>T	c.(3952-3954)tCt>tTt	p.S1318F	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.S1318F	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1318						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)		AACATCATCAGAAATAGCTGT	0.393000													9	88					0	0	1	0	0
CTSV	1515	broad.mit.edu	37	9	99799644	99799644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:99799644G>A	ENST00000259470.5	-	4	535	c.286C>T	c.(286-288)Cga>Tga	p.R96*	CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Nonsense_Mutation_p.R96*	NM_001333.3	NP_001324.2			cathepsin V																		TTCTGGTTTCGAAAGCAACCC	0.423000													19	64					0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139302278	139302278	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:139302278C>T	ENST00000298537.7	-	3	544	c.333_splice	c.e3+1	p.K111_splice	SDCCAG3_ENST00000357365.3_Splice_Site_p.K134_splice|SDCCAG3_ENST00000371725.3_Splice_Site_p.K61_splice	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	134						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		GTGGATTTACCTTTGCATAAA	0.522000													19	51					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33135354	33135354	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:33135354G>A	ENST00000306065.4	-	5	560	c.402C>T	c.(400-402)tcC>tcT	p.S134S	ANKRD27_ENST00000587352.1_Silent_p.S134S|ANKRD27_ENST00000586693.2_5'UTR	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	134					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGGTTTTCAGGGAAAAGGGAT	0.493000													21	369					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15634241	15634241	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:15634241G>A	ENST00000378076.3	-	22	2627	c.2274C>T	c.(2272-2274)ttC>ttT	p.F758F		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	758					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTTGGAGATCGAAGTTAATGC	0.393000													4	24					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987731	61987731	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:61987731G>A	ENST00000409186.1	-	5	2606	c.501C>T	c.(499-501)tcC>tcT	p.S167S	PCDH20_ENST00000409204.4_Silent_p.S167S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	140	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGGAGGAGATGGAAACGCTGC	0.562000													7	29					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177603	7177603	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:7177603G>A	ENST00000406697.1	+	15	2343	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	C1S_ENST00000402681.3_Missense_Mutation_p.R405Q|C1S_ENST00000360817.5_Missense_Mutation_p.R572Q|C1S_ENST00000328916.3_Missense_Mutation_p.R572Q			P09871	C1S_HUMAN	complement component 1, s subcomponent	572	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGCTGGGGCCGAACAGAGAAG	0.537000													3	32					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4159774	4159774	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:4159774G>A	ENST00000078445.2	+	4	718	c.571G>A	c.(571-573)Gac>Aac	p.D191N	CREB3L3_ENST00000602147.1_Missense_Mutation_p.D191N|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.D191N|CREB3L3_ENST00000595923.1_Missense_Mutation_p.D190N	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	191					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCAGTGGGGACCTGGTGAG	0.607000													12	63					0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415285	210415285	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:210415285C>T	ENST00000367012.3	+	4	904	c.674C>T	c.(673-675)tCc>tTc	p.S225F	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	225	Ser-rich.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		gcctcttcttcctcctcatct	0.498000													10	114					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227953440	227953440	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:227953440C>T	ENST00000396625.3	-	22	1759	c.1552G>A	c.(1552-1554)Ggg>Agg	p.G518R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G518R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	518	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAGGGAGCCCCAAGTCTCCC	0.597000													11	101					0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759398	6759398	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:6759398A>G	ENST00000378827.4	+	3	2072	c.853A>G	c.(853-855)Aaa>Gaa	p.K285E		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	285					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	ACGTCAAGCCAAACACAAACA	0.493000													12	35					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179605011	179605011	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:179605011G>A	ENST00000444136.1	+	9	1759	c.1509G>A	c.(1507-1509)atG>atA	p.M503I	TDRD5_ENST00000367614.1_Missense_Mutation_p.M503I|TDRD5_ENST00000294848.8_Missense_Mutation_p.M503I	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	503					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAGACATGATGATTGAAATGC	0.388000													4	41					0	0	1	0	0
FYN	2534	broad.mit.edu	37	6	112021360	112021360	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:112021360G>A	ENST00000354650.3	-	9	1415	c.809C>T	c.(808-810)tCc>tTc	p.S270F	FYN_ENST00000368678.4_Intron|FYN_ENST00000229471.4_Intron|FYN_ENST00000229470.5_Intron|FYN_ENST00000368682.3_Intron|FYN_ENST00000368667.2_Missense_Mutation_p.S270F|FYN_ENST00000538466.1_Intron|FYN_ENST00000356013.2_Intron|FYN_ENST00000476769.2_5'UTR	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	270					axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CAACTGCAGGGATTCTCGAGG	0.493000													11	100					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157387948	157387948	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:157387948G>A	ENST00000389413.3	-	16	2494	c.2391C>T	c.(2389-2391)acC>acT	p.T797T	PTPRN2_ENST00000409483.1_Silent_p.T788T|PTPRN2_ENST00000389418.4_Silent_p.T826T|PTPRN2_ENST00000404321.2_Silent_p.T849T|PTPRN2_ENST00000389416.4_Silent_p.T809T	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	826	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGTCAGCCACGGTGGCGGGCA	0.498000													8	49					0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24302258	24302258	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:24302258G>A	ENST00000378454.3	-	3	664	c.363C>T	c.(361-363)atC>atT	p.I121I		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	121					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TCCTGCTATGGATTACTGGTT	0.358000													13	54					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189850466	189850466	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:189850466C>T	ENST00000304636.3	+	4	579	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P137S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	137					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTCTCCTGGCCCCCCTGGAAT	0.433000													9	26					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863246	55863246	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55863246A>C	ENST00000327335.4	-	1	676	c.677T>G	c.(676-678)tTc>tGc	p.F226C	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	226					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						AGCTGAAGGGAATTTCAGAAT	0.358000													6	100					0	0	1	0	0
KIAA1147	57189	broad.mit.edu	37	7	141385420	141385420	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:141385420G>A	ENST00000536163.1	-	3	384	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S	KIAA1147_ENST00000482493.1_Missense_Mutation_p.P38S	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	129										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					CCGAAGAAGGGCCCCTTTCGG	0.517000													6	47					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086684	9086684	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9086684C>T	ENST00000397910.4	-	1	5334	c.5131G>A	c.(5131-5133)Gga>Aga	p.G1711R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1711	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						TCTGTGACTCCTTCAGTAGTT	0.498000													8	134					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408592	130408592	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:130408592C>T	ENST00000370904.1	-	24	4615	c.3705G>A	c.(3703-3705)ctG>ctA	p.L1235L	IGSF1_ENST00000361420.3_Silent_p.L1244L|IGSF1_ENST00000370903.3_Silent_p.L1249L|IGSF1_ENST00000370910.1_Silent_p.L1235L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1244	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCACCAGCTCCAGGGGATCAC	0.537000													32	73					0	0	1	0	0
IPCEF1	26034	broad.mit.edu	37	6	154520897	154520897	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:154520897T>C	ENST00000265198.4	-	10	967	c.812A>G	c.(811-813)aAc>aGc	p.N271S	IPCEF1_ENST00000367220.4_Missense_Mutation_p.N272S|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Missense_Mutation_p.N272S|IPCEF1_ENST00000519091.1_5'UTR|IPCEF1_ENST00000519344.1_Missense_Mutation_p.N243S	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						AGATAAAGAGTTCAAAAATCC	0.418000													19	77					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040562	103040562	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:103040562C>T	ENST00000264260.2	+	4	951	c.362C>T	c.(361-363)tCt>tTt	p.S121F	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	121					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GTGAATAATTCTGGGTCATAT	0.358000													7	62					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44069477	44069477	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:44069477G>A	ENST00000359947.4	+	16	2994	c.2654G>A	c.(2653-2655)gGg>gAg	p.G885E	PTPRF_ENST00000438120.1_Missense_Mutation_p.G876E|PTPRF_ENST00000372414.3_Missense_Mutation_p.G885E|PTPRF_ENST00000372413.3_Missense_Mutation_p.G876E|PTPRF_ENST00000422171.2_Missense_Mutation_p.G233E|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	885	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGCACAAGGGGACCACCTAC	0.637000													21	71					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23410681	23410681	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:23410681C>T	ENST00000379361.4	+	3	1906	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	349	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GAAATGTTATCCTCCTGGAGG	0.413000													11	16					0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671594	39671594	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:39671594G>A	ENST00000398930.1	+	4	765	c.411G>A	c.(409-411)gaG>gaA	p.E137E	KCNJ15_ENST00000398934.1_Silent_p.E137E|KCNJ15_ENST00000398938.2_Silent_p.E137E|KCNJ15_ENST00000398932.1_Silent_p.E137E|KCNJ15_ENST00000328656.3_Silent_p.E137E			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	137					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						CCATCACAGAGGAATGTCCTC	0.507000													12	75					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212832	26212832	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:26212832C>T	ENST00000379034.1	+	2	1018	c.869C>T	c.(868-870)tCg>tTg	p.S290L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	290	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTCCTGATGTCGCTCCTGGTT	0.547000													35	70					0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36336810	36336810	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:36336810G>A	ENST00000373738.1	-	5	1383	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	ETV7_ENST00000373737.4_Missense_Mutation_p.L158F|ETV7_ENST00000538992.1_Missense_Mutation_p.L84F|ETV7_ENST00000339796.5_Missense_Mutation_p.L235F|ETV7_ENST00000340181.4_Missense_Mutation_p.L235F	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	235					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CGGGTATCAAGGAGCAGCTGA	0.537000													10	121					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54015068	54015068	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:54015068G>A	ENST00000396328.1	-	3	430	c.191C>T	c.(190-192)tCg>tTg	p.S64L	WDR72_ENST00000557913.1_Missense_Mutation_p.S64L|WDR72_ENST00000360509.5_Missense_Mutation_p.S64L|WDR72_ENST00000559418.1_Missense_Mutation_p.S64L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	64								p.S64L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACATGTTACCGAAGCTGAATG	0.378000													18	116					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14836052	14836052	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:14836052C>T	ENST00000261170.3	-	4	671	c.535G>A	c.(535-537)Gat>Aat	p.D179N	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	179					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.D179N(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AAGGGCAGATCGTTGGTTTTC	0.378000													12	48					0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964707	119964707	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:119964707C>T	ENST00000543831.1	+	4	832	c.583C>T	c.(583-585)Cca>Tca	p.P195S	HSD3B2_ENST00000369416.3_Missense_Mutation_p.P195S	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	195					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GGAAGGAGGCCCATTCCTTTC	0.463000													23	74					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160998245	160998245	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:160998245G>A	ENST00000447678.1	-	29	4674	c.4554C>T	c.(4552-4554)gtC>gtT	p.V1518V	LPA_ENST00000316300.5_Silent_p.V1518V	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4026	Kringle 14.				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)	TCCTTCCTGTGACAGTGGTGG	0.443000													24	97					0	0	1	0	0
GIPC2	54810	broad.mit.edu	37	1	78601371	78601371	+	Missense_Mutation	SNP	G	G	A	rs138793126		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:78601371G>A	ENST00000370759.3	+	6	1085	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	298						cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GTTCCCAGACGAATTTGTCTT	0.423000													3	29					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757526	242757526	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:242757526G>A	ENST00000391969.2	+	5	1318	c.607G>A	c.(607-609)Gat>Aat	p.D203N	NEU4_ENST00000404257.1_Missense_Mutation_p.D215N|NEU4_ENST00000405370.1_Missense_Mutation_p.D203N|NEU4_ENST00000325935.6_Missense_Mutation_p.D216N|NEU4_ENST00000407683.1_Missense_Mutation_p.D203N	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	203						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)		CTTCTACAGCGATGACCACGG	0.687000													4	13					0	0	1	0	0
ARAF	369	broad.mit.edu	37	X	47424652	47424652	+	Splice_Site	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:47424652T>C	ENST00000377045.4	+	6	654	c.458_splice	c.e6-1	p.F154_splice	ARAF_ENST00000377039.2_Splice_Site_p.F154_splice|ARAF_ENST00000290277.6_Splice_Site_p.F154_splice	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	154					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GCCCTCAAGGTTCTACCACAG	0.617000													5	22					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869776	151869776	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151869776G>A	ENST00000329342.5	+	3	691	c.466G>A	c.(466-468)Gat>Aat	p.D156N		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	156	MAGE.						protein binding	p.D156Y(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGCTTCCGATTCCTTGCA	0.552000													20	72					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21042583	21042583	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:21042583C>T	ENST00000261383.3	-	37	5222	c.5223G>A	c.(5221-5223)gtG>gtA	p.V1741V	DNAH3_ENST00000415178.1_Silent_p.V1741V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1741	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)		TCTTGTACTCCACAGCAAACT	0.493000													11	37					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189585720	189585720	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:189585720G>A	ENST00000264731.3	+	7	1070	c.981G>A	c.(979-981)ctG>ctA	p.L327L	TP63_ENST00000392461.3_Silent_p.L233L|TP63_ENST00000440651.2_Silent_p.L327L|TP63_ENST00000354600.5_Silent_p.L233L|TP63_ENST00000437221.1_Silent_p.L233L|TP63_ENST00000418709.2_Silent_p.L327L|TP63_ENST00000456148.1_Silent_p.L233L|TP63_ENST00000449992.1_Silent_p.L148L|TP63_ENST00000392463.2_Silent_p.L233L|TP63_ENST00000320472.5_Silent_p.L327L|TP63_ENST00000382063.4_Silent_p.L242L|TP63_ENST00000392460.3_Silent_p.L327L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	327					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTGTTACTCTGGAAACCAGAG	0.403000										HNSCC(45;0.13)			7	26					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110498879	110498879	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110498879G>A	ENST00000378402.5	+	59	9813	c.9709G>A	c.(9709-9711)Gaa>Aaa	p.E3237K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3237					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACTGCAGCTGAAAAATACCA	0.418000										HNSCC(38;0.096)			17	86					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12160806	12160806	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:12160806G>A	ENST00000263035.4	+	15	2523	c.2461G>A	c.(2461-2463)Gaa>Aaa	p.E821K		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	821					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GAAACAAAGAGAATCTCTGGG	0.473000													27	164					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78091445	78091445	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:78091445C>T	ENST00000302262.3	+	17	2597	c.2378C>T	c.(2377-2379)cCc>cTc	p.P793L	GAA_ENST00000390015.3_Missense_Mutation_p.P793L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	793					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCTGCAGCTCCCCGTGAGCCA	0.677000													4	52					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232951	1232951	+	Silent	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:1232951C>A	ENST00000324642.3	+	3	510	c.387C>A	c.(385-387)tcC>tcA	p.S129S	SLC6A18_ENST00000296821.4_Silent_p.S129S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	129					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCTCAACTCCTTCCAGCACC	0.647000													5	78					8.12818e-05	8.18308e-05	1	1	0
LIPF	8513	broad.mit.edu	37	10	90435980	90435980	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:90435980G>A	ENST00000394375.3	+	10	1046	c.933G>A	c.(931-933)ggG>ggA	p.G311G	LIPF_ENST00000355843.2_Silent_p.G268G|LIPF_ENST00000238983.4_Silent_p.G301G|LIPF_ENST00000496797.1_3'UTR	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	301					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TTAAGTCTGGGAAATTCCAAG	0.308000													4	29					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169329	138169329	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:138169329G>A	ENST00000409968.1	+	14	3024	c.2846G>A	c.(2845-2847)gGa>gAa	p.G949E	THSD7B_ENST00000413152.2_Missense_Mutation_p.G918E|THSD7B_ENST00000272643.3_Missense_Mutation_p.G949E|THSD7B_ENST00000543459.1_Intron					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)		CCTCACCGAGGACTGCGGGTA	0.488000													13	91					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028385	21028385	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:21028385G>A	ENST00000381545.3	+	9	1163	c.944G>A	c.(943-945)gGa>gAa	p.G315E	LST3_ENST00000540229.1_Missense_Mutation_p.G315E|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G315E|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G315E	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	315					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ACCAACCAAGGAAAAAATGTT	0.299000													7	24					0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16799034	16799034	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:16799034C>T	ENST00000187762.2	+	6	843	c.752C>T	c.(751-753)tCg>tTg	p.S251L		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	251						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTGTTTGGTTCGGCCTGCGGG	0.642000													44	262					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60499261	60499261	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:60499261C>T	ENST00000371201.3	-	7	1023	c.916G>A	c.(916-918)Gag>Aag	p.E306K	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	306							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTCAAAATCTCCAACAGACTC	0.473000													15	117					0	0	1	0	0
LYZL2	119180	broad.mit.edu	37	10	30915752	30915752	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:30915752G>A	ENST00000375318.2	-	2	287	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	31					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CAGCCCTCGAGAATATTTTTG	0.507000													8	86					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5289807	5289807	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5289807C>T	ENST00000380237.1	-	5	680	c.336G>A	c.(334-336)gtG>gtA	p.V112V	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Silent_p.V112V|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	112					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGAATAATCACCATCACGT	0.468000													21	144					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156940505	156940505	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156940505C>T	ENST00000257527.4	-	8	753	c.675G>A	c.(673-675)aaG>aaA	p.K225K	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Silent_p.K227K|ADAM19_ENST00000517905.1_Silent_p.K225K	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	225	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCGTCGATTCTTCTGAAACT	0.473000													17	76					0	0	1	0	0
ZBTB11-AS1	100009676	broad.mit.edu	37	3	101395684	101395684	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:101395684G>A	ENST00000536865.1	+	1	411	c.196G>A	c.(196-198)Ggt>Agt	p.G66S	ZBTB11_ENST00000312938.4_Silent_p.T25T|ZBTB11_ENST00000461821.1_Silent_p.T25T																							CATTGCCCTCGGTGCCCGGCG	0.657000													7	25					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344791	20344791	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:20344791G>A	ENST00000298642.2	+	1	401	c.365G>A	c.(364-366)aGg>aAg	p.R122K		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTTTGATAGGTATATTGCA	0.453000													8	279					0	0	1	0	0
STK26	51765	broad.mit.edu	37	X	131202562	131202562	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:131202562C>T	ENST00000394334.2	+	6	815	c.562C>T	c.(562-564)Cct>Tct	p.P188S	MST4_ENST00000496850.1_Missense_Mutation_p.P188S|MST4_ENST00000394335.2_Missense_Mutation_p.P111S|MST4_ENST00000354719.6_Missense_Mutation_p.P188S|MST4_ENST00000481105.1_Missense_Mutation_p.P210S	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		188	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTGGATGGCTCCTGAAGTTAT	0.363000													17	51					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466546	56466546	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56466546G>A	ENST00000291971.3	+	3	1193	c.1122G>A	c.(1120-1122)gaG>gaA	p.E374E	NLRP8_ENST00000590542.1_Silent_p.E374E	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	374	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GACACACAGAGGAGGGAGACC	0.483000													17	78					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567264	136567264	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:136567264C>T	ENST00000264162.2	-	8	2663	c.2653G>A	c.(2653-2655)Gaa>Aaa	p.E885K		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	885	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGAACTTTTCCCAAACGACT	0.493000													15	139					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046789	9046789	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9046789C>T	ENST00000397910.4	-	5	35045	c.34842G>A	c.(34840-34842)acG>acA	p.T11614T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11616	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						CACCTGACCTCGTGTCTACTC	0.507000													12	90					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20891473	20891473	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:20891473C>T	ENST00000263205.7	+	2	207	c.138C>T	c.(136-138)ttC>ttT	p.F46F	MED15_ENST00000542773.1_5'UTR|MED15_ENST00000292733.7_Silent_p.F46F|MED15_ENST00000425759.2_Silent_p.F6F|MED15_ENST00000382974.2_Silent_p.F46F|MED15_ENST00000541476.1_Silent_p.F20F|MED15_ENST00000406969.1_Silent_p.F20F	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	46	Interaction with SREBF1.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GCCATGTTTTCCTGAAGGCCA	0.527000													7	37					0	0	1	0	0
LINC01098	285501	broad.mit.edu	37	4	178896971	178896971	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:178896971G>A	ENST00000507870.1	+	5	636	c.174G>A	c.(172-174)atG>atA	p.M58I																	lung(8)|prostate(1)	9						AGAAGACAATGAGGTCAGCTA	0.428000													4	63					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105421075	105421075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:105421075G>A	ENST00000264122.4	-	12	2143	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	CBLB_ENST00000405772.1_Nonsense_Mutation_p.R608*|CBLB_ENST00000394027.3_Nonsense_Mutation_p.R630*|CBLB_ENST00000403724.1_Nonsense_Mutation_p.R608*	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	608	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CCTAGGAGTCGACATCCCACA	0.537000			Mis S		AML								8	99					0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033623	82033623	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:82033623C>T	ENST00000328945.5	-	3	402	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	92					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GATCAGGTTTCGATTGAGTTG	0.502000													18	80					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	346429	346429	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:346429C>T	ENST00000343164.4	-	6	643	c.591G>A	c.(589-591)ggG>ggA	p.G197G	SLC6A13_ENST00000445055.2_Silent_p.G105G	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	197					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGTGCTGGATCCCATCAGAGA	0.607000													13	80					0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14891493	14891493	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrY:14891493C>T	ENST00000338981.3	+	22	4009	c.3064C>T	c.(3064-3066)Ctt>Ttt	p.L1022F	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1022					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CATCTCTTTCCTTTGGCAAGT	0.358000													7	43					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43023388	43023388	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43023388C>T	ENST00000161559.6	-	5	1093		c.e5-1		CEACAM1_ENST00000403444.3_Splice_Site|CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000358394.3_Intron|CEACAM1_ENST00000308072.4_Intron|CEACAM1_ENST00000351134.3_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000599389.1_Intron	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)						angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GGACTTAGCTCTGTGGACAAG	0.507000													9	105					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616312	92616312	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:92616312C>T	ENST00000298047.6	+	23	12707	c.12690C>T	c.(12688-12690)gtC>gtT	p.V4230V	FAT3_ENST00000533797.1_Silent_p.V565V|FAT3_ENST00000525166.1_Silent_p.V4080V|FAT3_ENST00000409404.2_Silent_p.V4230V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4230					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V4230V(2)|p.V805V(1)		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)				CCCCGCAGGTCCCCGTGCGCC	0.657000										TCGA Ovarian(4;0.039)			25	125					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175332955	175332955	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:175332955G>A	ENST00000367674.1	-	13	3304	c.2596C>T	c.(2596-2598)Ccc>Tcc	p.P866S	TNR_ENST00000263525.2_Missense_Mutation_p.P866S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	866	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCTTTTGGGGGATCAATTCCT	0.433000													6	48					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47582349	47582349	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:47582349G>A	ENST00000334194.3	+	11	1297	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	432						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ATTCTCCAGGGAAAATTCTGA	0.408000													6	29					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701930	30701930	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:30701930G>A	ENST00000256246.2	-	1	4678	c.4604C>T	c.(4603-4605)cCg>cTg	p.P1535L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1535										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)		TTTGTTAAGCGGATTAGAAAC	0.353000													9	153					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78850224	78850224	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:78850224T>C	ENST00000286627.5	-	10	2220	c.1268A>G	c.(1267-1269)aAc>aGc	p.N423S	KCNMA1_ENST00000404857.1_Missense_Mutation_p.N423S|KCNMA1_ENST00000286628.8_Missense_Mutation_p.N423S|KCNMA1_ENST00000406533.3_Missense_Mutation_p.N423S|KCNMA1_ENST00000372443.1_Missense_Mutation_p.N423S|KCNMA1_ENST00000354353.5_Missense_Mutation_p.N423S|KCNMA1_ENST00000404771.3_Missense_Mutation_p.N423S|KCNMA1_ENST00000372440.1_Missense_Mutation_p.N423S	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	423	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTTCAGGAAGTTGGAAACACT	0.532000													16	80					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216420210	216420210	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:216420210G>A	ENST00000366943.2	-	13	2912	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F	USH2A_ENST00000366942.3_Silent_p.F842F|USH2A_ENST00000307340.3_Silent_p.F842F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	842	Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAGACAGAGGAAAGAATTAT	0.438000										HNSCC(13;0.011)			11	130					0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935417	151935417	+	Silent	SNP	G	G	A	rs149076914		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:151935417G>A	ENST00000393902.3	-	3	1317	c.750C>T	c.(748-750)ttC>ttT	p.F250F	MAGEA3_ENST00000370278.3_Silent_p.F250F			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	250	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGCACGAAATGTTGGG	0.537000													29	110					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	865868	865868	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:865868G>T	ENST00000381922.3	-	4	790	c.688C>A	c.(688-690)Cag>Aag	p.Q230K	ANGPT4_ENST00000546022.1_Missense_Mutation_p.Q230K	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	230					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCGGCGCTCTGGCGGCTCAGC	0.672000													3	5					1	1	1	1	0
NLRP13	126204	broad.mit.edu	37	19	56435994	56435994	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:56435994G>A	ENST00000588751.1	-	3	443	c.419C>T	c.(418-420)cCa>cTa	p.P140L	NLRP13_ENST00000342929.3_Missense_Mutation_p.P140L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	140							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTCTTGGTTTGGATCTTGGCA	0.423000													7	51					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131921963	131921963	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:131921963C>T	ENST00000286355.5	-	6	3723	c.1631G>A	c.(1630-1632)gGa>gAa	p.G544E	ADCY8_ENST00000377928.3_Missense_Mutation_p.G544E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	544					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCAGGGATTCCTCCAGATTC	0.463000										HNSCC(32;0.087)			6	129					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1670052	1670052	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:1670052C>T	ENST00000252804.4	-	10	1275	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	409	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CACGCATACTCTCCGCTGTCC	0.592000													5	46					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41815067	41815067	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:41815067G>A	ENST00000304330.4	-	19	2754	c.2638C>T	c.(2638-2640)Ccc>Tcc	p.P880S	RPAP1_ENST00000561603.1_Missense_Mutation_p.P880S	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	880	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGAGACGGGGGCAGCCTCCC	0.632000													4	42					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213059	9213059	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9213059G>A	ENST00000305456.2	-	1	923	c.924C>T	c.(922-924)ccC>ccT	p.P308P		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TATAGATAAAGGGGTTCACCA	0.448000													10	77					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48252354	48252354	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:48252354C>T	ENST00000400384.2	+	5	1912	c.876C>T	c.(874-876)atC>atT	p.I292I	MAPK4_ENST00000540640.1_Silent_p.I81I|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	292	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TGGAGAAGATCCTGACCTTTA	0.552000													12	83					0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	161781186	161781186	+	Missense_Mutation	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:161781186A>G	ENST00000366898.1	-	11	1321	c.1219T>C	c.(1219-1221)Tcc>Ccc	p.S407P	PARK2_ENST00000338468.3_Missense_Mutation_p.S216P|PARK2_ENST00000366897.1_Missense_Mutation_p.S379P|PARK2_ENST00000366896.1_Missense_Mutation_p.S258P|PARK2_ENST00000366894.1_Missense_Mutation_p.S216P	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	407					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTTTCTTTGGAGGCTGCTTCC	0.512000													13	113					0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139572104	139572104	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:139572104G>A	ENST00000263552.6	+	6	701	c.163G>A	c.(163-165)Gga>Aga	p.G55R	TBXAS1_ENST00000539806.1_Missense_Mutation_p.G55R|TBXAS1_ENST00000336425.5_Missense_Mutation_p.G54R|TBXAS1_ENST00000455353.1_Missense_Mutation_p.G54R|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000416849.2_Missense_Mutation_p.G55R|TBXAS1_ENST00000458722.1_Missense_Mutation_p.G54R|TBXAS1_ENST00000448866.1_Missense_Mutation_p.G54R|TBXAS1_ENST00000414508.2_Missense_Mutation_p.G55R|TBXAS1_ENST00000411653.1_Missense_Mutation_p.G54R|TBXAS1_ENST00000436047.2_Missense_Mutation_p.G55R|TBXAS1_ENST00000425687.1_5'UTR	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	54					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					TCCTTTCATTGGAAACTTGAC	0.478000													8	62					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10904511	10904511	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:10904511T>C	ENST00000314646.5	+	8	1272	c.1108T>C	c.(1108-1110)Ttc>Ctc	p.F370L	DNM2_ENST00000355667.6_Missense_Mutation_p.F370L|DNM2_ENST00000389253.4_Missense_Mutation_p.F370L|DNM2_ENST00000359692.6_Missense_Mutation_p.F370L|DNM2_ENST00000585892.1_Missense_Mutation_p.F370L|DNM2_ENST00000408974.4_Missense_Mutation_p.F370L			P50570	DYN2_HUMAN	dynamin 2	370					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCACGAGCGGTTCCCATTTGA	0.642000			"""F, N, Splice, Mis, O"""		ETP ALL								11	109					0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16411695	16411695	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:16411695C>A	ENST00000334133.4	-	6	1190	c.918G>T	c.(916-918)aaG>aaT	p.K306N	RFTN1_ENST00000432519.1_Missense_Mutation_p.K270N|RFTN1_ENST00000483671.1_5'UTR	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	306						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TCTGGCCATTCTTGGAGACAT	0.517000													32	126					1.62565e-12	1.64636e-12	1	1	0
PREX1	57580	broad.mit.edu	37	20	47267432	47267432	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:47267432C>T	ENST00000396220.1	-	23	2839	c.2817_splice	c.e23+1	p.E939_splice	PREX1_ENST00000371941.3_Splice_Site_p.E939_splice			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	939					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACGCAGGCACCTCCTGGTAGC	0.567000													3	46					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117228820	117228820	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:117228820C>T	ENST00000355044.3	+	24	3761	c.3635C>T	c.(3634-3636)tCc>tTc	p.S1212F	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Missense_Mutation_p.S263F	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1212						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGCAACTTTTCCTGGCCTATT	0.289000													7	42					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71928964	71928964	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:71928964C>T	ENST00000266674.5	+	4	737	c.426C>T	c.(424-426)tcC>tcT	p.S142S	LGR5_ENST00000536515.1_Silent_p.S142S|LGR5_ENST00000540815.2_Silent_p.S142S			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	142						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						GCCTTCAATCCCTGTAAGTAT	0.353000													7	75					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176675517	176675517	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:176675517G>A	ENST00000367662.3	+	10	4552	c.3388G>A	c.(3388-3390)Gat>Aat	p.D1130N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1130					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGAGTGTGATGATGGAGACCT	0.398000													7	40					0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150934934	150934934	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:150934934C>T	ENST00000035307.2	+	4	2999	c.1486C>T	c.(1486-1488)Ctg>Ttg	p.L496L	CHPF2_ENST00000495645.1_Silent_p.L488L	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	496						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GCTGCCACTCCTGGTGGCTGA	0.622000													19	44					0	0	1	0	0
PGAP2	27315	broad.mit.edu	37	11	3832621	3832621	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:3832621C>T	ENST00000278243.4	+	2	333	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PGAP2_ENST00000300730.6_Silent_p.F101F|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000396986.2_Silent_p.F101F|PGAP2_ENST00000493547.2_Silent_p.F44F|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000396991.2_Silent_p.F44F|PGAP2_ENST00000463452.2_Silent_p.F44F	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	44					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CCCTGCTCTTCCACTTCAAGG	0.552000													4	38					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756286	94756286	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:94756286C>T	ENST00000554723.1	-	2	1183	c.765G>A	c.(763-765)ggG>ggA	p.G255G	SERPINA10_ENST00000554173.1_Silent_p.G215G|SERPINA10_ENST00000261994.4_Silent_p.G215G|SERPINA10_ENST00000393096.1_Silent_p.G215G			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	215					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.G215G(1)		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)		TGGGAATTTTCCCCCGAGTCT	0.388000													7	34					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42487664	42487664	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:42487664G>A	ENST00000381668.5	-	25	2404	c.2173C>T	c.(2173-2175)Cgt>Tgt	p.R725C	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R710C	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	725					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTACAGTGACGACTGAGAGTT	0.403000													6	58					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26101376	26101376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:26101376C>T	ENST00000313735.6	-	12	1616	c.1383G>A	c.(1381-1383)tgG>tgA	p.W461*		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	461					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CCAGCCAAATCCAGTCTGCCG	0.552000													4	46					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10035153	10035153	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:10035153G>A	ENST00000378380.3	+	9	2407	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E	ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.G693E	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		ACATCAGAGGGAAAGAAAGTA	0.333000													8	38					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18029085	18029085	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:18029085C>T	ENST00000262608.8	+	16	4045	c.4045C>T	c.(4045-4047)Ctc>Ttc	p.L1349F	CECR2_ENST00000400573.4_Missense_Mutation_p.L1348F|CECR2_ENST00000400585.2_Missense_Mutation_p.L1206F	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1390					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TGTGGCTGCCCTCCCACCTCA	0.642000													4	26					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182585207	182585207	+	Missense_Mutation	SNP	G	G	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:182585207G>C	ENST00000323116.5	+	15	1923	c.1663G>C	c.(1663-1665)Gtt>Ctt	p.V555L		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	555					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AACTATGGAGGTTAAAACTCT	0.294000													12	36					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21212778	21212778	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:21212778G>A	ENST00000574002.1	-	15	2088	c.1606C>T	c.(1606-1608)Ccc>Tcc	p.P536S	ZP2_ENST00000219593.4_Missense_Mutation_p.P536S|ZP2_ENST00000574091.1_Missense_Mutation_p.P527S|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	536	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TTGATGTTGGGGTCATCCCTG	0.507000													8	97					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758651	121758651	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:121758651C>T	ENST00000261367.7	+	6	1788	c.360C>T	c.(358-360)ttC>ttT	p.F120F	SNCAIP_ENST00000379536.2_Silent_p.F73F|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379533.2_Silent_p.F120F|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000503116.2_Silent_p.F120F|SNCAIP_ENST00000261368.8_Silent_p.F73F			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	73					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)		ACAGTAAGTTCCGCCCAGTGA	0.443000													5	60					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17507431	17507431	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:17507431C>T	ENST00000229922.2	+	5	864	c.332C>T	c.(331-333)tCg>tTg	p.S111L	CAP2_ENST00000489374.1_Intron|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.S85L|CAP2_ENST00000465994.1_Missense_Mutation_p.S111L	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	111					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AAACCCATATCGGAAAAGATT	0.478000													7	63					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154379702	154379702	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:154379702G>A	ENST00000406326.1	+	6	1373	c.970G>A	c.(970-972)Gag>Aag	p.E324K	DPP6_ENST00000377770.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATTGTCATACGAGTGTGGCAG	0.602000													11	112					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551338	248551338	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248551338G>A	ENST00000355728.2	+	1	429	c.429G>A	c.(427-429)atG>atA	p.M143I		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTGCTGGATGATCCTGGCCA	0.562000													4	52					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43111199	43111199	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:43111199C>T	ENST00000230419.4	+	14	2313	c.2092C>T	c.(2092-2094)Ccc>Tcc	p.P698S	PTK7_ENST00000345201.2_Missense_Mutation_p.P658S|PTK7_ENST00000481273.1_Missense_Mutation_p.P706S|PTK7_ENST00000352931.2_Missense_Mutation_p.P642S|PTK7_ENST00000349241.2_Missense_Mutation_p.P568S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	698					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CAGCCCTCCCCCCTACAAGAT	0.602000											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	73					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39517881	39517881	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:39517881G>A	ENST00000537403.1	-	11	2308	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L	SEC23A_ENST00000307712.6_Missense_Mutation_p.S571L|SEC23A_ENST00000545328.2_Missense_Mutation_p.S542L|SEC23A_ENST00000536508.1_Missense_Mutation_p.S445L			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	571					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GAAAGTTTCTGAAAATCTGAA	0.313000													5	32					0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99416653	99416653	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:99416653C>T	ENST00000370631.3	+	4	901	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F	PI4K2A_ENST00000555577.1_Missense_Mutation_p.L252F|PI4K2A_ENST00000370649.3_Missense_Mutation_p.L252F	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	282	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		AGCAGAACCTCTTCCTGAGAA	0.512000													22	119					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180916	142180916	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142180916G>A	ENST00000390368.2	-	0	100																											CCACAGGAGAGACAAGGCTGC	0.577000													8	57					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159568146	159568146	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:159568146C>T	ENST00000307765.5	+	16	1800	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	RXFP1_ENST00000343542.5_Missense_Mutation_p.P469S|RXFP1_ENST00000470033.1_Missense_Mutation_p.P484S|RXFP1_ENST00000460056.2_Missense_Mutation_p.P436S|RXFP1_ENST00000448688.2_Missense_Mutation_p.P412S	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	517						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CATTGTCTATCCTTTTAGATG	0.358000													5	46					0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116277727	116277727	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:116277727C>T	ENST00000606080.1	-	5	1292	c.846G>A	c.(844-846)aaG>aaA	p.K282K	FRK_ENST00000538210.1_Silent_p.K140K	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	282	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GTCTTAGGTTCTTCATTATCT	0.388000													5	81					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189849619	189849619	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:189849619A>T	ENST00000304636.3	+	2	383	c.213A>T	c.(211-213)gaA>gaT	p.E71D	COL3A1_ENST00000317840.5_Missense_Mutation_p.E71D	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	71	VWFC.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACGATCAAGAATTAGACTGCC	0.443000													4	46					0	0	1	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509700	125509700	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:125509700C>T	ENST00000341446.8	+	3	571	c.480C>T	c.(478-480)atC>atT	p.I160I		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	160						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TCTTCTGGATCGTGCGGGTCG	0.627000													12	73					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763880	77763880	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:77763880G>A	ENST00000521891.2	+	10	5171	c.4723G>A	c.(4723-4725)Gaa>Aaa	p.E1575K	ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1530K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1549K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1530K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1530						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			AGTTTTGCAGGAAGCCTCCAG	0.408000										HNSCC(33;0.089)			5	15					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4714907	4714907	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:4714907C>T	ENST00000302640.8	+	20	2597	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	ITPR1_ENST00000456211.2_Silent_p.L749L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.L764L|ITPR1_ENST00000423119.2_Silent_p.L764L|ITPR1_ENST00000354582.6_Silent_p.L764L|ITPR1_ENST00000443694.2_Silent_p.L749L	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	764					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)		ATGTCGATCTCATTCTCCGCT	0.547000													5	33					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54559794	54559794	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:54559794C>T	ENST00000566473.2	+	17	2178	c.2178C>T	c.(2176-2178)gcC>gcT	p.A726A	ANKFN1_ENST00000318698.2_Silent_p.A726A			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	726										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGCTCCCTGCCTCAGACGACG	0.527000													9	123					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42618590	42618590	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:42618590C>T	ENST00000282030.5	+	5	4437	c.4141C>T	c.(4141-4143)Ctt>Ttt	p.L1381F		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1381						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTTATCTCTCCTTGCTGCATC	0.517000									Schinzel-Giedion syndrome				5	60					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51352508	51352508	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:51352508C>T	ENST00000266037.9	+	32	3374	c.3351C>T	c.(3349-3351)atC>atT	p.I1117I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1117						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGATTCCCATCTTTCATGACA	0.463000													9	34					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39282978	39282978	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:39282978C>T	ENST00000425054.2	-	5	890	c.891G>A	c.(889-891)tgG>tgA	p.W297*	KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000373229.5_Intron	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GCCAAAATTTCCAGGCCCCGG	0.577000													3	39					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53242526	53242526	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:53242526C>T	ENST00000304620.4	-	1	252	c.189G>A	c.(187-189)ggG>ggA	p.G63G		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	63	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CAAACCGCACCCCCAGCCTAC	0.642000													5	31					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42196221	42196221	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:42196221G>A	ENST00000541110.1	-	18	4093	c.3525C>T	c.(3523-3525)ccC>ccT	p.P1175P	TRERF1_ENST00000372917.4_Silent_p.P1084P|TRERF1_ENST00000372922.4_Silent_p.P1155P|TRERF1_ENST00000354325.2_Silent_p.P1072P|TRERF1_ENST00000340840.2_Silent_p.P1084P			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1155	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CATCCTTGATGGGTTTGATCA	0.597000													29	330					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56722320	56722320	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:56722320G>A	ENST00000425394.2	-	3	764	c.388C>T	c.(388-390)Ctt>Ttt	p.L130F	PAN2_ENST00000257931.5_Missense_Mutation_p.L130F|PAN2_ENST00000440411.3_Missense_Mutation_p.L130F|PAN2_ENST00000548043.1_Missense_Mutation_p.L130F	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	130					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GTGAGAAAAAGGATACCATTC	0.478000													13	92					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79966339	79966339	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:79966339C>T	ENST00000360280.3	+	53	7656	c.7396C>T	c.(7396-7398)Cat>Tat	p.H2466Y	VPS13A_ENST00000357409.5_Missense_Mutation_p.H2466Y|VPS13A_ENST00000376634.4_Missense_Mutation_p.H2466Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.H2427Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2466					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						TAGAAAAAGCCATGGTGAAGT	0.473000													23	79					0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19610530	19610530	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:19610530G>A	ENST00000361640.4	-	6	1334	c.794C>T	c.(793-795)tCg>tTg	p.S265L		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	265					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGTGGCCGAGGTCATGCT	0.617000													21	72					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43683259	43683259	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:43683259C>T	ENST00000599812.1	-	3	576	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Intron|PSG5_ENST00000366175.3_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	161	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GCCTCCATGGCCTCCCTGGGG	0.517000													32	181					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581784	7581784	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:7581784C>T	ENST00000379802.3	+	23	5702	c.5361C>T	c.(5359-5361)ttC>ttT	p.F1787F	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1787	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)		TTGAGAAATTCCAAAAGCAGG	0.408000													6	90					0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124180963	124180963	+	Splice_Site	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:124180963T>C	ENST00000303372.5	+	12	1442	c.1312_splice	c.e12-1	p.G438_splice	TCTN2_ENST00000426174.2_Splice_Site_p.G437_splice	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	438					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TTTGTCTAGGTTACCAACTTG	0.423000													3	54					0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92568084	92568084	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:92568084G>A	ENST00000370382.3	+	3	669	c.402G>A	c.(400-402)agG>agA	p.R134R	BTBD8_ENST00000540648.1_Silent_p.R134R|BTBD8_ENST00000342818.3_Silent_p.R134R			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	134						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		AAATTCTTAGGAAAAAGATAA	0.279000													8	45					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42231025	42231025	+	Silent	SNP	G	G	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:42231025G>C	ENST00000541110.1	-	8	2485	c.1917C>G	c.(1915-1917)ccC>ccG	p.P639P	TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000372922.4_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	628	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGCCCCTTGGGGTGAGTGTG	0.667000													12	102					0	0	1	0	0
MT4	84560	broad.mit.edu	37	16	56599044	56599044	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:56599044G>A	ENST00000219162.3	+	1	84	c.4G>A	c.(4-6)Gac>Aac	p.D2N		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	2						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						CTGGACCATGGACCCCAGGGA	0.602000													6	67					0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152638131	152638131	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:152638131G>A	ENST00000263985.6	-	4	577	c.537C>T	c.(535-537)atC>atT	p.I179I	PET112_ENST00000512306.1_Silent_p.I179I|PET112_ENST00000515812.1_Silent_p.I179I	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	179						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCGTCTTGGGGATCACCTGAC	0.527000													25	119					0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	289848	289848	+	Silent	SNP	A	A	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:289848A>G	ENST00000419098.1	-	2	110	c.100T>C	c.(100-102)Ttg>Ctg	p.L34L		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TAGTTCTCCAACATCACATCT	0.418000													9	44					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909109	123909109	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:123909109C>T	ENST00000330487.5	-	1	608	c.600G>A	c.(598-600)gtG>gtA	p.V200V		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCCCAATATTCACAAAGATGA	0.562000													33	139					0	0	1	0	0
GUCA2A	2980	broad.mit.edu	37	1	42628612	42628612	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:42628612C>T	ENST00000357001.2	-	3	318	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_033553.2	NP_291031.2	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A (guanylin)	105					signal transduction	extracellular region	guanylate cyclase activator activity|hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1)	5	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCACAGATTTCACATGTGCCC	0.622000													26	72					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61601504	61601504	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:61601504G>A	ENST00000583023.1	+	2	92	c.81G>A	c.(79-81)cgG>cgA	p.R27R	KCNH6_ENST00000581784.1_Silent_p.R27R|KCNH6_ENST00000580652.1_Silent_p.R27R|KCNH6_ENST00000456941.2_Silent_p.R27R|KCNH6_ENST00000314672.5_Silent_p.R27R	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	27					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCCCAGGTCGGAAGTTCCTGA	0.562000													26	189					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20384441	20384441	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20384441T>G	ENST00000302451.4	-	6	933	c.685A>C	c.(685-687)Aaa>Caa	p.K229Q		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	229					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTCACAATTTTTCCCTTGTAC	0.343000													11	73					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155278420	155278420	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:155278420C>T	ENST00000357232.3	-	6	750	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	251	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ttcattacttccttgtctgct	0.438000													7	70					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91818668	91818668	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:91818668C>T	ENST00000370425.3	-	15	1869	c.1771G>A	c.(1771-1773)Gag>Aag	p.E591K	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.E270K	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	591	Helicase C-terminal.						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)		TCTGACAGCTCCATACCAGCA	0.318000													12	58					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767403	57767403	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:57767403C>T	ENST00000371030.2	+	1	1329	c.1329C>T	c.(1327-1329)ccC>ccT	p.P443P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	443						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)					TCGACCTGCCCACGCCCTACA	0.682000													5	31					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705811	30705811	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:30705811G>A	ENST00000256246.2	-	1	797	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	241										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)		CCAGGTCAGCGAAGTTTTTCA	0.333000													11	47					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33371038	33371038	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:33371038C>T	ENST00000270112.2	+	11	2046	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	562					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TGCGCTCCTTCGAGTCTGTGG	0.592000													9	51					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404448	197404448	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:197404448G>A	ENST00000367397.1	+	5	2456	c.1598G>A	c.(1597-1599)gGa>gAa	p.G533E	CRB1_ENST00000535699.1_Missense_Mutation_p.G1128E|CRB1_ENST00000367400.3_Missense_Mutation_p.G1152E|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.G633E|CRB1_ENST00000367399.2_Missense_Mutation_p.G1040E			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1152	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGCATGGAGGAAACTGTGAA	0.443000													9	52					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	102992408	102992408	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:102992408G>A	ENST00000409599.1	+	6	866	c.510G>A	c.(508-510)acG>acA	p.T170T	IL18R1_ENST00000233957.1_Silent_p.T170T			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	170	Ig-like C2-type 2.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AAAACCCAACGATAAAGAAGA	0.318000													3	6					0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688869	55688869	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55688869C>T	ENST00000358433.2	-	1	147	c.148G>A	c.(148-150)Gat>Aat	p.D50N		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGCCGGGGATCCAGCAGGGTG	0.408000													6	59					0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3823361	3823361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:3823361C>T	ENST00000262961.4	-	8	1264	c.1254G>A	c.(1252-1254)tgG>tgA	p.W418*		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	418						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CTGGTTTCCCCCACTGGGGTC	0.612000													7	61					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192863813	192863813	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:192863813C>T	ENST00000392314.1	-	6	1049	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	TMEFF2_ENST00000272771.5_Missense_Mutation_p.E220K|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000428980.2_RNA|AC098617.1_ENST00000424116.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	220	Kazal-like 2.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GACATGACTTCAATTTTCTCC	0.358000													14	67					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833636	61833636	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:61833636C>T	ENST00000280772.1	-	37	7194	c.7003G>A	c.(7003-7005)Gaa>Aaa	p.E2335K	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)	2335					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						TTACCTTTTTCGATGTGGACT	0.428000													8	75					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81695819	81695819	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:81695819C>T	ENST00000356860.3	-	8	1018	c.680G>A	c.(679-681)aGt>aAt	p.S227N	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S227N|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.S227N	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	227						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGGAGTTCTACTATTATCAAC	0.274000													4	26					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196852734	196852734	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:196852734C>T	ENST00000312428.6	-	13	1673	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	525	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						TTGCAAATTTCATCTATTATT	0.328000													5	9					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834079	82834079	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:82834079C>T	ENST00000265077.3	+	8	5822	c.5257C>T	c.(5257-5259)Ccc>Tcc	p.P1753S	VCAN_ENST00000343200.5_Missense_Mutation_p.P766S|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1753	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATTAATTTTACCCTTTGAATT	0.388000													12	67					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233135013	233135013	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:233135013C>A	ENST00000258229.8	-	31	5675	c.5441G>T	c.(5440-5442)cGg>cTg	p.R1814L	PCNXL2_ENST00000344698.2_Missense_Mutation_p.R466L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1814						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AATCAAGTTCCGCAGGACCTG	0.562000													4	9					0.014758	0.0147921	1	1	0
GLB1L	79411	broad.mit.edu	37	2	220107568	220107568	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:220107568G>A	ENST00000295759.7	-	4	625	c.312C>T	c.(310-312)gcC>gcT	p.A104A	GLB1L_ENST00000392089.2_Silent_p.A104A|GLB1L_ENST00000409640.1_Silent_p.A104A|GLB1L_ENST00000356283.3_Silent_p.A104A			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	104					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATTCAGAAAGGCAATGAGGT	0.507000													7	87					0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139474	142139474	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142139474G>A	ENST00000390374.3	-	0	195																											TACCAATAAAGGGATACATGA	0.512000													4	76					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78011429	78011429	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:78011429G>A	ENST00000435339.2	+	2	1468	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	LPAR4_ENST00000373301.2_Missense_Mutation_p.D355N	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	355						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GGAAGTGAGTGATCAAACAAC	0.398000													15	57					0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665265	6665265	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:6665265G>A	ENST00000326176.9	-	5	668	c.287C>T	c.(286-288)gCc>gTc	p.A96V	TNFSF14_ENST00000245912.3_Missense_Mutation_p.A96V|TNFSF14_ENST00000599359.1_Missense_Mutation_p.A132V	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	132					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GACCACAAGGGCCCCATCGTG	0.662000													7	31					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27630176	27630176	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:27630176C>T	ENST00000319394.3	+	14	2068	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S	WDTC1_ENST00000361771.3_Silent_p.S510S	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	511							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GCAAGGACTCCATCTCAGAGG	0.592000													7	130					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179472290	179472290	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179472290C>T	ENST00000589042.1	-	277	53349	c.53125G>A	c.(53125-53127)Gaa>Aaa	p.E17709K	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8644K|TTN_ENST00000359218.5_Missense_Mutation_p.E8769K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E16068K|TTN_ENST00000342175.6_Missense_Mutation_p.E8836K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15141K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16068	Fibronectin type-III 28.						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)			TCCCCTTCTTCTTTGGTCCAT	0.438000													24	345					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55923972	55923972	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:55923972C>T	ENST00000244728.5	-	29	3074	c.2677G>A	c.(2677-2679)Ggt>Agt	p.G893S	COL21A1_ENST00000370819.1_Missense_Mutation_p.G890S|COL21A1_ENST00000535941.1_Missense_Mutation_p.G893S|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G259S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	893					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCTGGGGGACCAGGAGGACCT	0.438000													7	27					0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112958883	112958883	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:112958883A>T	ENST00000271277.6	+	3	321	c.96A>T	c.(94-96)ttA>ttT	p.L32F	RP4-671G15.2_ENST00000502356.2_RNA	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	32						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGAAGCCTTAAAGGTATGTT	0.328000													14	63					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471587	61471587	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61471587G>A	ENST00000398019.2	+	8	1186	c.861G>A	c.(859-861)atG>atA	p.M287I	SERPINB7_ENST00000540675.1_Missense_Mutation_p.M270I|SERPINB7_ENST00000336429.2_Missense_Mutation_p.M287I|SERPINB7_ENST00000546027.1_Missense_Mutation_p.M287I	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	287					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				ATTATGAAATGAAACAATATT	0.398000													11	41					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17353004	17353004	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:17353004C>T	ENST00000261381.6	-	3	838	c.754G>A	c.(754-756)Gac>Aac	p.D252N		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	252					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGGGCTGGTCATACTTGGTC	0.617000													13	97					0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131285	130131285	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:130131285G>A	ENST00000525842.1	-	2	851	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S	ZBTB44_ENST00000357899.4_Missense_Mutation_p.P162S|ZBTB44_ENST00000530205.1_Missense_Mutation_p.P162S|ZBTB44_ENST00000397753.1_Missense_Mutation_p.P162S	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		GAGGACACGGGAGAAATGCTC	0.448000													6	40					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156923993	156923993	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:156923993C>T	ENST00000257527.4	-	14	1581	c.1503G>A	c.(1501-1503)atG>atA	p.M501I	ADAM19_ENST00000430702.2_Missense_Mutation_p.M234I|ADAM19_ENST00000394020.1_Missense_Mutation_p.M503I|ADAM19_ENST00000517905.1_Missense_Mutation_p.M501I	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	501	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGTACCATCCATCTGGTAGA	0.642000													4	15					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139266721	139266721	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:139266721G>A	ENST00000450536.2	-	3	965	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	REPS1_ENST00000258062.5_Missense_Mutation_p.P131S|REPS1_ENST00000409812.2_Missense_Mutation_p.P131S|REPS1_ENST00000367663.4_Missense_Mutation_p.P131S|REPS1_ENST00000415951.2_Missense_Mutation_p.P131S			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	131						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GGTGGTGGGGGAATTACACCA	0.468000													13	135					0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68029431	68029431	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:68029431C>T	ENST00000304271.6	-	4	1434	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	344						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						CTACCTGCTCCGGTGCCTGGG	0.637000													5	56					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33988599	33988599	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:33988599C>T	ENST00000389232.4	+	39	6111	c.6041C>T	c.(6040-6042)aCc>aTc	p.T2014I	RYR3_ENST00000415757.3_Missense_Mutation_p.T2014I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2014	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTAAGCGACACCATCAACCTG	0.582000													7	69					0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36767898	36767898	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:36767898G>A	ENST00000361475.2	-	9	1431	c.1258C>T	c.(1258-1260)Ctg>Ttg	p.L420L	TGM2_ENST00000536701.1_Silent_p.L339L|TGM2_ENST00000536724.1_Silent_p.L360L	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	420					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCAACGATCAGGGAACGGTTG	0.557000													14	52					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863686	55863686	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55863686G>A	ENST00000327335.4	-	1	236	c.237C>T	c.(235-237)ttC>ttT	p.F79F	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	79					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						TGGTGATTAGGAATCTGGGAA	0.383000													7	39					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524804	10524804	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:10524804G>A	ENST00000396560.2	+	3	554	c.327G>A	c.(325-327)ttG>ttA	p.L109L	ATF7IP2_ENST00000396559.1_Silent_p.L109L|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000324570.5_Silent_p.L109L|ATF7IP2_ENST00000356427.2_Silent_p.L109L	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AAACAAAATTGGAACAAGTTG	0.348000													7	60					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285459	48285459	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:48285459C>T	ENST00000320048.1	+	1	47	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GTGGGATTTTCCCAGAATTGG	0.453000													11	60					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107930850	107930850	+	Missense_Mutation	SNP	G	G	A	rs104886281		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:107930850G>A	ENST00000328300.6	+	49	4698	c.4454G>A	c.(4453-4455)gGa>gAa	p.G1485E	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1479E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1479	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGCCCACAGGGAACACTTCAG	0.478000									Alport syndrome with Diffuse Leiomyomatosis				26	93					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510333	5510333	+	Missense_Mutation	SNP	T	T	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5510333T>A	ENST00000322641.5	+	1	419	c.397T>A	c.(397-399)Tta>Ata	p.L133I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTAACCCATTAAGGTACAC	0.458000													22	105					0	0	1	0	0
SERPINB10	5273	broad.mit.edu	37	18	61597403	61597403	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61597403G>A	ENST00000238508.3	+	6	674	c.615G>A	c.(613-615)aaG>aaA	p.K205K		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCACAGAAAAGCCTTTTAGAA	0.358000													15	81					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230322	147230322	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:147230322C>T	ENST00000271348.2	-	2	1186	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.R342Q	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	342					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			ACTAAGACGTCGCTTGTCACT	0.547000													6	65					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10508849	10508849	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:10508849G>A	ENST00000444303.2	+	5	872	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	AMPD3_ENST00000396554.3_Missense_Mutation_p.E302K	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	293					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)		GATGTTAAACGAAATGTCCGA	0.498000													25	178					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54853330	54853330	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:54853330C>T	ENST00000333896.5	+	11	1949	c.1564C>T	c.(1564-1566)Cag>Tag	p.Q522*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.Q535*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	535					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAAGATATTCCAGGAAATGCT	0.517000													3	38					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247151185	247151185	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:247151185G>A	ENST00000339986.7	-	4	779	c.632C>T	c.(631-633)cCg>cTg	p.P211L	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	211					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACATTGGTACGGGTTCTCTCC	0.373000													6	47					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546582	9546582	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:9546582C>T	ENST00000378429.3	-	6	1986	c.1440G>A	c.(1438-1440)atG>atA	p.M480I	PAK7_ENST00000353224.5_Missense_Mutation_p.M480I|PAK7_ENST00000378423.1_Missense_Mutation_p.M480I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	480	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCCGGAGGTCCATTTTCTTCA	0.443000													4	124					0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46621989	46621989	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:46621989G>A	ENST00000330070.4	-	1	1452	c.285C>T	c.(283-285)ttC>ttT	p.F95F	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	95					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TCATCCAAGGGAACTcggggg	0.692000													5	51					0	0	1	0	0
TPD52	7163	broad.mit.edu	37	8	80965600	80965600	+	Silent	SNP	G	G	A	rs140252226		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:80965600G>A	ENST00000379096.5	-	3	315	c.201C>T	c.(199-201)atC>atT	p.I67I	TPD52_ENST00000517427.1_Silent_p.I107I|TPD52_ENST00000537855.1_Silent_p.I107I|TPD52_ENST00000379097.3_Silent_p.I107I|TPD52_ENST00000520527.1_Silent_p.I107I|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000448733.2_Silent_p.I107I|TPD52_ENST00000518937.1_Silent_p.I67I	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52	107					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GTTTCCGCTTGATCTCTGCTA	0.428000													12	92					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51649300	51649300	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:51649300G>A	ENST00000317643.6	+	4	1018	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.E224K	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	317	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGATGAAGGGGAATTCACCTG	0.597000													10	84					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56716350	56716350	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:56716350G>A	ENST00000370754.5	-	4	469	c.470C>T	c.(469-471)tCc>tTc	p.S157F	RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCCTCATCGGAAAAATCCGC	0.468000											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	22					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399289	10399289	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10399289C>T	ENST00000226207.5	-	35	5241	c.5147G>A	c.(5146-5148)cGt>cAt	p.R1716H	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1716			R -> C (in dbSNP:rs1077841).			muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAGCTGAACACGCTCACTGGC	0.488000													12	46					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103288627	103288627	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:103288627A>T	ENST00000553106.1	-	3	710	c.238T>A	c.(238-240)Ttc>Atc	p.F80I	PAH_ENST00000307000.2_Missense_Mutation_p.F75I|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	80	ACT.				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AAATGGGTGAAAAATTCATAC	0.433000													4	64					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070515	9070515	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9070515G>A	ENST00000397910.4	-	3	17134	c.16931C>T	c.(16930-16932)cCt>cTt	p.P5644L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5646	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						GGAGGAAACAGGAGAAGGGGA	0.517000													3	31					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17131375	17131375	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:17131375G>A	ENST00000418129.2	+	6	3442	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	PLCL2_ENST00000432376.1_Missense_Mutation_p.E993K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1119					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGTCATACCCGAAAAAGCAAA	0.418000													10	30					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93965670	93965670	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:93965670C>T	ENST00000369303.4	-	13	2442	c.2258G>A	c.(2257-2259)gGa>gAa	p.G753E		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	753	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTGAACATATCCCATATCAGC	0.423000													16	66					0	0	1	0	0
IL10	3586	broad.mit.edu	37	1	206941988	206941988	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:206941988C>T	ENST00000423557.1	-	5	588	c.530G>A	c.(529-531)cGa>cAa	p.R177Q		NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	177					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GTCTCAGTTTCGTATCTTCAT	0.458000													3	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516835	179516835	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179516835G>A	ENST00000589042.1	-	204	39507	c.39283C>T	c.(39283-39285)Cct>Tct	p.P13095S	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11588S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10661S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11448							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)			TCAGGGGGAGGACTTTCCGGT	0.343000													8	92					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94928715	94928715	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:94928715C>T	ENST00000357742.4	+	13	1749	c.1749C>T	c.(1747-1749)ccC>ccT	p.P583P	MCTP2_ENST00000557742.1_Silent_p.P171P|MCTP2_ENST00000331706.4_Silent_p.P171P|MCTP2_ENST00000451018.3_Silent_p.P583P	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	583	C2 3.				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)			GAGATAAACCCCCAGATTTTC	0.338000													8	189					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843320	4843320	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:4843320C>T	ENST00000322110.5	+	1	770	c.705C>T	c.(703-705)atC>atT	p.I235I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATATCCTGATCATTCGATCTG	0.502000													14	71					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47801557	47801557	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:47801557G>A	ENST00000591416.1	-	9	1282	c.851C>T	c.(850-852)cCc>cTc	p.P284L	MBD1_ENST00000347968.3_Missense_Mutation_p.P284L|MBD1_ENST00000339998.6_Missense_Mutation_p.P284L|MBD1_ENST00000269471.5_Missense_Mutation_p.P284L|MBD1_ENST00000588937.1_Missense_Mutation_p.P284L|MBD1_ENST00000585672.1_Missense_Mutation_p.P235L|MBD1_ENST00000398495.2_Missense_Mutation_p.P309L|MBD1_ENST00000585595.1_Missense_Mutation_p.P309L|MBD1_ENST00000269468.5_Missense_Mutation_p.P284L|MBD1_ENST00000457839.2_Missense_Mutation_p.P309L|MBD1_ENST00000436910.1_Missense_Mutation_p.P284L|MBD1_ENST00000424334.2_Missense_Mutation_p.P335L|MBD1_ENST00000398488.1_Missense_Mutation_p.P284L|MBD1_ENST00000398493.1_Missense_Mutation_p.P284L|MBD1_ENST00000587605.1_Missense_Mutation_p.P284L|MBD1_ENST00000382948.5_Missense_Mutation_p.P284L|MBD1_ENST00000353909.3_Missense_Mutation_p.P235L|MBD1_ENST00000349085.2_Missense_Mutation_p.P284L|MBD1_ENST00000591535.1_Missense_Mutation_p.P284L|MBD1_ENST00000590208.1_Missense_Mutation_p.P284L			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	284	Pro-rich.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTGGGCTCCGGGGCGCCGCCT	0.647000													10	86					0	0	1	0	0
CLN6	54982	broad.mit.edu	37	15	68502091	68502091	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:68502091G>A	ENST00000564752.1	-	6	699	c.575C>T	c.(574-576)tCc>tTc	p.S192F	CLN6_ENST00000538696.1_Silent_p.I215I|CLN6_ENST00000418702.2_Intron|CLN6_ENST00000566347.1_Silent_p.I120I|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000249806.5_Silent_p.I183I|CLN6_ENST00000565471.1_Silent_p.I30I			Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	0					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGAAGAAGGGGATGTACCTGT	0.577000													18	67					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225764	21225764	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21225764C>T	ENST00000233242.1	-	29	12657	c.12530G>A	c.(12529-12531)cGa>cAa	p.R4177Q		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4177					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGAGTAACTCGTACCAAGCC	0.463000													14	52					0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20361531	20361531	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:20361531C>T	ENST00000423676.3	-	3	361	c.298G>A	c.(298-300)Gac>Aac	p.D100N	LGALS9B_ENST00000324290.5_Missense_Mutation_p.D100N			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	100	Galectin 1.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						AAGCAGAGGTCAAAGGGCATC	0.572000													8	24					0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45410273	45410273	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:45410273G>A	ENST00000332700.6	-	4	987	c.816C>T	c.(814-816)ttC>ttT	p.F272F		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	272						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		ATGGAGAAGGGAAACCCAGAG	0.483000													9	83					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29598955	29598955	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:29598955C>T	ENST00000431530.3	+	1	208	c.150C>T	c.(148-150)atC>atT	p.I50I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	40						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCAATCAAATCATGTTGGAGG	0.413000													4	43					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14146769	14146769	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:14146769C>T	ENST00000380959.3	-	6	1317	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	NFIB_ENST00000380934.4_Missense_Mutation_p.E308K|NFIB_ENST00000543693.1_Missense_Mutation_p.E30K|NFIB_ENST00000397579.2_Missense_Mutation_p.E282K|NFIB_ENST00000397581.2_Missense_Mutation_p.E282K|NFIB_ENST00000380924.1_Missense_Mutation_p.E30K|NFIB_ENST00000397575.3_Missense_Mutation_p.E282K|NFIB_ENST00000380953.1_Missense_Mutation_p.E282K	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	282					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GGACTTGGTTCCATATTTTCA	0.388000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								11	59					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559889	44559889	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:44559889C>T	ENST00000332567.4	-	1	2099	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	583	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			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						CTCCGTAATTCGTCTGTCTCT	0.517000													9	51					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427672	25427672	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:25427672C>T	ENST00000424208.1	+	0	272					NR_003305.1																						AGGAGGGCCCCTGTATTTTTG	0.562000													12	103					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170103911	170103911	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:170103911G>A	ENST00000263816.3	-	20	3170	c.2885C>T	c.(2884-2886)tCg>tTg	p.S962L	LRP2_ENST00000443831.1_Missense_Mutation_p.S825L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	962					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.S962*(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GACATCATACGATTTCAAATG	0.398000													4	53					0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42953379	42953379	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:42953379G>A	ENST00000426333.2	-	10	1089	c.792C>T	c.(790-792)atC>atT	p.I264I	EFTUD2_ENST00000592576.1_Silent_p.I254I|EFTUD2_ENST00000591382.1_Silent_p.I264I|EFTUD2_ENST00000402521.3_Silent_p.I229I	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	264						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCAGCTCCAGGATCAGCCGGT	0.507000													16	186					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756661	56756661	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56756661G>A	ENST00000326855.2	+	1	315	c.273G>A	c.(271-273)ttG>ttA	p.L91L		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAAAGAATTTGATGTTATTTC	0.383000													9	65					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219618942	219618942	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:219618942C>T	ENST00000392102.1	+	20	3770	c.3430C>T	c.(3430-3432)Cct>Tct	p.P1144S	TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Missense_Mutation_p.P1080S|TTLL4_ENST00000258398.4_Missense_Mutation_p.P1144S	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1144					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGGCCTTTCCCCTTATCCCCA	0.522000													14	136					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49341346	49341346	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:49341346G>A	ENST00000263265.6	-	19	2560	c.2005C>T	c.(2005-2007)Cac>Tac	p.H669Y	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.S570L	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	669						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CGCTCCCGGTGACCTTCGGAA	0.577000													8	76					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26414447	26414447	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:26414447G>A	ENST00000265944.5	+	19	2190	c.2024G>A	c.(2023-2025)aGg>aAg	p.R675K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	675	Myosin head-like.				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						ACCGATGTCAGGGATGCCATG	0.418000													17	101					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41457622	41457622	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:41457622G>A	ENST00000400454.1	-	23	4516	c.4039C>T	c.(4039-4041)Cgc>Tgc	p.R1347C		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1347	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.R1347C(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACCGTGCGAATAATGAAG	0.438000													16	47					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163369185	163369185	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:163369185C>T	ENST00000332142.5	-	5	992		c.e5-1		KCNH7_ENST00000328032.4_Intron|KCNH7_ENST00000477019.1_Intron	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7						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)	CGACCATTGTCTGTTTTGAGC	0.333000													5	59					0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128755	68128755	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:68128755G>A	ENST00000585558.1	+	4	1020	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	KCNJ16_ENST00000283936.1_Missense_Mutation_p.R176Q|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R176Q|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R176Q|KCNJ16_ENST00000586462.1_Missense_Mutation_p.R215Q|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R176Q			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	176					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GCAACTGCTCGAAAGAGAGCC	0.468000													6	80					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139299124	139299124	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:139299124C>T	ENST00000406875.3	-	8	1992	c.1898G>A	c.(1897-1899)cGg>cAg	p.R633Q	HIPK2_ENST00000342645.6_Missense_Mutation_p.R633Q|HIPK2_ENST00000428878.2_Missense_Mutation_p.R606Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	633	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGGCATGCTCCGCTGGGCCAC	0.572000													9	27					0	0	1	0	0
HSF2	3298	broad.mit.edu	37	6	122733860	122733860	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:122733860C>T	ENST00000452194.1	+	3	468	c.281C>T	c.(280-282)cCt>cTt	p.P94L	HSF2_ENST00000368455.4_Missense_Mutation_p.P94L	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	94					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TTTCAGCATCCTTACTTCAAA	0.378000													15	74					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115391348	115391348	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:115391348C>T	ENST00000369358.4	-	18	2030	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	NRAP_ENST00000360478.3_Missense_Mutation_p.E553K|NRAP_ENST00000359988.3_Missense_Mutation_p.E588K|NRAP_ENST00000369360.3_Missense_Mutation_p.E561K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	588						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTTGTCTTTTCATATTCTTCT	0.428000													9	65					0	0	1	0	0
RRS1	23212	broad.mit.edu	37	8	67342133	67342133	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:67342133C>T	ENST00000320270.2	+	1	871	c.767C>T	c.(766-768)cCc>cTc	p.P256L		NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	256					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus				kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AAGTTTCAACCCCTTTTCGGG	0.577000													6	30					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54173442	54173442	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:54173442G>A	ENST00000259782.4	+	1	190	c.94G>A	c.(94-96)Gag>Aag	p.E32K	TINAG_ENST00000370869.3_Missense_Mutation_p.E28K|TINAG_ENST00000370864.3_Missense_Mutation_p.E14K|TINAG_ENST00000486436.1_3'UTR	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	32					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGTGGACCTAGAGGCTTATTT	0.393000													15	89					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451468	38451468	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38451468G>A	ENST00000322350.5	+	19	2941	c.2595G>A	c.(2593-2595)aaG>aaA	p.K865K	EGFLAM_ENST00000514476.1_Silent_p.K8K|EGFLAM_ENST00000397202.2_Silent_p.K231K|EGFLAM_ENST00000506135.1_Silent_p.K8K|EGFLAM_ENST00000336740.6_Silent_p.K631K|EGFLAM_ENST00000397210.3_Silent_p.K8K|EGFLAM_ENST00000354891.3_Silent_p.K873K	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	873	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAACTGCCAAGGATGGCCTTT	0.498000													8	145					0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156273856	156273856	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:156273856G>A	ENST00000311277.4	-	13	1976	c.1713C>T	c.(1711-1713)ttC>ttT	p.F571F	AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000593387.1_RNA|MAP9_ENST00000515654.1_Silent_p.F547F	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	571					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		cctttTGCTTGAAAAAAGCTT	0.279000													4	19					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116060253	116060253	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:116060253G>A	ENST00000369271.3	-	14	2039	c.1739C>T	c.(1738-1740)cCc>cTc	p.P580L	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.P633L|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.P580L	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	580					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		ATCTGGGGTGGGACCTGGGCC	0.642000													18	78					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20966232	20966232	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20966232G>A	ENST00000261383.3	-	55	10973	c.10974C>T	c.(10972-10974)ttC>ttT	p.F3658F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3658	AAA 6 (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)		CACAGCTTTGGAAGAACACAG	0.507000													20	117					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90079082	90079082	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:90079082C>T	ENST00000405460.2	+	66	13469	c.13373C>T	c.(13372-13374)aCc>aTc	p.T4458I	GPR98_ENST00000425867.2_Missense_Mutation_p.T119I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4458	Calx-beta 30.				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)		AGTACAGTCACCTTTCAGCAT	0.393000													7	61					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541225	55541225	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:55541225C>T	ENST00000220676.1	+	4	4931	c.4783C>T	c.(4783-4785)Cgg>Tgg	p.R1595W		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1595			R -> Q (in dbSNP:rs35084330).		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)			GTCAGACTATCGGCCTGACAG	0.398000													5	57					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98348911	98348911	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:98348911G>A	ENST00000370192.3	-	2	159	c.59C>T	c.(58-60)cCt>cTt	p.P20L	DPYD_ENST00000423006.2_Intron|DPYD_ENST00000306031.5_Missense_Mutation_p.P20L	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)	TTGTGTTCGAGGATTTAAAGC	0.318000													5	42					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156837963	156837963	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:156837963G>A	ENST00000368196.3	+	5	616	c.496G>A	c.(496-498)Gga>Aga	p.G166R	NTRK1_ENST00000358660.3_Missense_Mutation_p.G166R|NTRK1_ENST00000524377.1_Missense_Mutation_p.G166R|NTRK1_ENST00000392302.2_Missense_Mutation_p.G136R	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	166	LRRCT.				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)	GGAGGAGGAGGGACTGGGCGG	0.652000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			12	47					0	0	1	0	0
BDNF	627	broad.mit.edu	37	11	27720940	27720940	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:27720940C>T	ENST00000395986.2	-	1	274	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	BDNF_ENST00000356660.4_Intron|BDNF_ENST00000395978.3_Intron|BDNF_ENST00000438929.1_Intron|BDNF_ENST00000395983.3_Intron|BDNF_ENST00000395980.2_Intron|BDNF_ENST00000420794.1_Intron|BDNF_ENST00000533131.1_Intron|RP11-587D21.4_ENST00000530663.1_RNA|BDNF_ENST00000314915.6_Intron|BDNF_ENST00000395981.3_Intron|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000418212.1_Intron|BDNF_ENST00000532997.1_Intron|BDNF_ENST00000530861.1_Intron|BDNF_ENST00000525950.1_Intron|BDNF_ENST00000533246.1_Intron	NM_170734.3	NP_733930.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	0						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						CATTCCTCTTCCCGGCTCTGC	0.547000											OREG0020848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	87					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25215943	25215943	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:25215943C>T	ENST00000404969.1	+	1	55	c.55C>T	c.(55-57)Cac>Tac	p.H19Y				P10826	RARB_HUMAN	retinoic acid receptor, beta	19	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACACATGACTCACTATCCAGC	0.582000													5	95					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120385357	120385357	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:120385357G>A	ENST00000602047.1	+	17	1899	c.787G>A	c.(787-789)Gag>Aag	p.E263K	PCDP1_ENST00000413369.3_Missense_Mutation_p.E549K			Q4G0U5	PCDP1_HUMAN		549						cilium	calmodulin binding					Colorectal(110;0.196)					GGACTCCAACGAGTTGGTAGG	0.587000													12	76					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169081456	169081456	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:169081456C>T	ENST00000256935.8	+	2	173	c.93C>T	c.(91-93)atC>atT	p.I31I		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	31	SH3.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCTGCAGATCGGCGATGTGG	0.552000													8	55					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922670	37922670	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:37922670G>A	ENST00000346872.3	-	8	964	c.903C>T	c.(901-903)acC>acT	p.T301T	IKZF3_ENST00000583368.1_Silent_p.T54T|IKZF3_ENST00000350532.3_Silent_p.T262T|IKZF3_ENST00000439016.2_Silent_p.T206T|IKZF3_ENST00000351680.3_Silent_p.T262T|IKZF3_ENST00000377952.2_Silent_p.T80T|IKZF3_ENST00000535189.1_Silent_p.T267T|IKZF3_ENST00000377945.3_Silent_p.T167T|IKZF3_ENST00000394189.2_Silent_p.T119T|IKZF3_ENST00000439167.2_Silent_p.T228T|IKZF3_ENST00000377958.2_Silent_p.T214T|IKZF3_ENST00000467757.1_Silent_p.T245T|IKZF3_ENST00000377944.3_Silent_p.T158T|IKZF3_ENST00000346243.3_Silent_p.T223T	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	301					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCATCATGCGGGTCTGTATGA	0.522000													6	81					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119028227	119028227	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:119028227C>T	ENST00000328252.3	+	8	3193	c.2824C>T	c.(2824-2826)Cat>Tat	p.H942Y	PAPPA_ENST00000534838.1_5'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	942					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACATACATCCATGGAAGTGG	0.428000													4	46					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366549	40366549	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:40366549G>A	ENST00000406785.1	-	7	2618	c.2429C>T	c.(2428-2430)tCa>tTa	p.S810L	SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S838L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S810L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S841L|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S810L|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S846L|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S810L|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S846L|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S841L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S810L|SLC8A1-AS1_ENST00000444629.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	846					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCTGGCACTGATGTTCCAAG	0.453000													3	30					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141244652	141244652	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:141244652G>A	ENST00000287008.3	-	3	1391	c.1244C>T	c.(1243-1245)gCc>gTc	p.A415V	PCDH1_ENST00000536585.1_Missense_Mutation_p.A393V|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Missense_Mutation_p.A415V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.A403V	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	415	Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGCACCAGGGCCACAGCTGT	0.582000													12	66					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151859258	151859258	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:151859258G>A	ENST00000367290.5	+	3	354	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000239374.7_Missense_Mutation_p.E89K			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	89																	GAGCTACAAGGAAAACAATGC	0.398000													9	53					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2928814	2928814	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:2928814C>T	ENST00000397461.1	+	9	1230	c.846C>T	c.(844-846)atC>atT	p.I282I	CNTN4_ENST00000358480.3_Silent_p.I63I|CNTN4_ENST00000427331.1_Silent_p.I282I|CNTN4_ENST00000418658.1_Silent_p.I282I	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	282	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTCTTGAGATCCCTAATTTTC	0.413000													4	29					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12776227	12776227	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:12776227G>A	ENST00000456935.2	-	3	415	c.375C>T	c.(373-375)tcC>tcT	p.S125S	MAN2B1_ENST00000221363.4_Silent_p.S125S|CTD-2192J16.24_ENST00000597961.1_Silent_p.S122S	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	125					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCCACCAACGGGAGAAGAAGG	0.582000													17	114					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542280	55542280	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:55542280C>T	ENST00000220676.1	+	4	5986	c.5838C>T	c.(5836-5838)ttC>ttT	p.F1946F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1946					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)			TTGAAAATTTCTTGGGTTTTT	0.343000													6	39					0	0	1	0	0
NCF1	653361	broad.mit.edu	37	7	74193755	74193755	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:74193755C>T	ENST00000289473.4	+	4	452	c.382C>T	c.(382-384)Ccc>Tcc	p.P128S	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	128					cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CCTCAAGCTCCCCACGGACAA	0.582000													8	22					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47527697	47527697	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:47527697G>A	ENST00000285039.7	-	5	839	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	180	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAACGGTGGCGAAATAGCGCA	0.532000													23	131					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221186	63221186	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:63221186C>T	ENST00000449996.3	+	18	1537	c.1465C>T	c.(1465-1467)Cct>Tct	p.P489S	RGS9_ENST00000443584.3_Missense_Mutation_p.P489S|RGS9_ENST00000262406.9_Missense_Mutation_p.P492S	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	492					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCCCCCGTCTCCTTCTAGCCC	0.652000													22	169					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39550333	39550333	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:39550333G>A	ENST00000251645.2	-	7	1238	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	396	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CAGGGGGCAGGAGGGACACAA	0.622000													6	70					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133041385	133041385	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:133041385C>T	ENST00000262283.5	-	17	1808	c.1709G>A	c.(1708-1710)aGg>aAg	p.R570K	OC90_ENST00000254627.3_Missense_Mutation_p.R358K|OC90_ENST00000443356.2_Missense_Mutation_p.R374K|OC90_ENST00000603859.1_Missense_Mutation_p.R358K			Q02509	OC90_HUMAN	otoconin 90	374					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GCAGCCCAGCCTTCTCACTTG	0.522000													9	75					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30930496	30930496	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:30930496T>C	ENST00000597505.1	-	27	3914	c.3915A>G	c.(3913-3915)caA>caG	p.Q1305Q	DCDC1_ENST00000406071.2_Silent_p.Q40Q|DCDC1_ENST00000339794.5_Silent_p.Q384Q			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)					CACTTACTGGTTGATCAATGT	0.323000													7	40					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234750388	234750388	+	Silent	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:234750388A>T	ENST00000411486.2	-	8	1103	c.1038T>A	c.(1036-1038)gtT>gtA	p.V346V	HJURP_ENST00000432087.1_Silent_p.V292V|HJURP_ENST00000441687.1_Silent_p.V261V	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	346					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TACGGCAAGAAACATCTAATA	0.443000													4	44					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17264924	17264924	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:17264924C>T	ENST00000331428.5	-	4	1067	c.965G>A	c.(964-966)tGg>tAg	p.W322*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	322						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)				CACTGCTGACCAGCAGGAGAA	0.418000													15	59					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106461462	106461462	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:106461462C>T	ENST00000261402.2	-	7	2483	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	368							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGATTTCTTCAGCGACCGCT	0.552000													11	97					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166990927	166990927	+	Missense_Mutation	SNP	A	A	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:166990927A>T	ENST00000367872.4	+	12	1384	c.1140A>T	c.(1138-1140)aaA>aaT	p.K380N	MAEL_ENST00000367870.2_Missense_Mutation_p.K349N|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	380					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTAGGGCAAAAATTTCTGGCC	0.378000													6	36					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89133219	89133219	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:89133219G>A	ENST00000535633.1	-	11	1278	c.968C>T	c.(967-969)tCt>tTt	p.S323F	NOX4_ENST00000528341.1_Missense_Mutation_p.S322F|NOX4_ENST00000413594.2_Missense_Mutation_p.S368F|NOX4_ENST00000534731.1_Missense_Mutation_p.S347F|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000343727.5_Missense_Mutation_p.S323F|NOX4_ENST00000424319.1_Missense_Mutation_p.S323F|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000532825.1_Missense_Mutation_p.S323F|NOX4_ENST00000542487.1_Missense_Mutation_p.S323F|NOX4_ENST00000527956.1_Missense_Mutation_p.S323F|NOX4_ENST00000527626.1_Missense_Mutation_p.S181F|NOX4_ENST00000263317.4_Missense_Mutation_p.S347F|NOX4_ENST00000525196.1_Intron	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	347	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TTCTAATGCAGATACACTGGG	0.299000													8	42					0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283059	69283059	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:69283059C>T	ENST00000338352.2	+	1	719	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	229	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GTCGCACGTCCTGAAGACCCC	0.612000													7	28					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996763	20996763	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:20996763C>T	ENST00000261383.3	-	48	7300	c.7301G>A	c.(7300-7302)gGc>gAc	p.G2434D	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2434	AAA 4 (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)		GCCCCCTATGCCCACCAGGAG	0.552000													4	24					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56026137	56026137	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:56026137C>T	ENST00000288221.6	-	11	2458	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	735						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTCTCCACCTCCTTGAGGATC	0.468000													27	141					0	0	1	0	0
AMICA1	120425	broad.mit.edu	37	11	118074365	118074365	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:118074365G>A	ENST00000292067.7	-	5	961	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	AMICA1_ENST00000533261.1_Missense_Mutation_p.R173C|AMICA1_ENST00000526620.1_Missense_Mutation_p.R145C|AMICA1_ENST00000356289.5_Missense_Mutation_p.R184C	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	184	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		p.R174G(1)|p.R174C(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGGTAGTAACGAAATACAATC	0.502000													13	63					0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108714063	108714063	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:108714063G>A	ENST00000361189.2	-	4	1364	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	PJA2_ENST00000361557.3_Silent_p.F375F	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	375					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GTGGATCCAAGAACATACAGT	0.413000													9	76					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704306	68704306	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:68704306C>T	ENST00000255078.3	+	13	2469	c.2358C>T	c.(2356-2358)gcC>gcT	p.A786A		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	786	R3H.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCAAGAGGGCCCCGCGACCCC	0.687000													7	39					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215809781	215809781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:215809781C>T	ENST00000272895.7	-	49	7506	c.7287G>A	c.(7285-7287)tgG>tgA	p.W2429*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.W2111*|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2429	ABC transporter 2.				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)		AAATGATCTTCCAGAGGTGCC	0.388000													3	29					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227471	38227471	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:38227471G>A	ENST00000373048.4	-	3	455	c.456C>T	c.(454-456)atC>atT	p.I152I	EPHA10_ENST00000319637.6_Silent_p.I152I|EPHA10_ENST00000427468.2_Silent_p.I152I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	152						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGATCGTGTCGATTTTGCGGG	0.662000													15	53					0	0	1	0	0
GYPB	2994	broad.mit.edu	37	4	144918732	144918732	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:144918732C>T	ENST00000283126.7	-	4	286	c.231G>A	c.(229-231)acG>acA	p.T77T	GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000502664.1_Silent_p.T77T|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000513128.1_Silent_p.T44T|GYPB_ENST00000429670.2_Intron					glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TTAAGAGGATCGTTCCAATAA	0.358000													10	28					0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437808	125437808	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:125437808A>C	ENST00000304820.2	+	1	494	c.400A>C	c.(400-402)Act>Cct	p.T134P		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CCATTATGTCACTGTTATGAA	0.458000													14	148					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228238581	228238581	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:228238581C>T	ENST00000284523.1	+	3	616	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	WNT3A_ENST00000366753.2_Missense_Mutation_p.R180C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	180					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCCAGATGCCCGCTCAGCCAT	0.647000													7	32					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83360865	83360865	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:83360865C>T	ENST00000262752.2	-	16	1392	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R462Q	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	462	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TGAAGGGTCTCGCTTACTTTT	0.308000													3	21					0	0	1	0	0
TNFSF4	7292	broad.mit.edu	37	1	173155693	173155693	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:173155693G>A	ENST00000281834.3	-	3	650	c.514C>T	c.(514-516)Ctt>Ttt	p.L172F	TNFSF4_ENST00000367718.1_Missense_Mutation_p.L122F	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	172					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						TGATGGATAAGAATCAGTTCT	0.478000													6	62					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189455616	189455616	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:189455616C>T	ENST00000264731.3	+	2	239	c.150C>T	c.(148-150)ctC>ctT	p.L50L	TP63_ENST00000440651.2_Silent_p.L50L|TP63_ENST00000418709.2_Silent_p.L50L|TP63_ENST00000320472.5_Silent_p.L50L|TP63_ENST00000382063.4_Silent_p.L50L|TP63_ENST00000392460.3_Silent_p.L50L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	50	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATGAATTCCTCAGTCCAGAGG	0.398000										HNSCC(45;0.13)			25	48					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89828358	89828358	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:89828358C>T	ENST00000310775.7	+	18	1816	c.1730C>T	c.(1729-1731)tCt>tTt	p.S577F	FANCI_ENST00000300027.8_Missense_Mutation_p.S577F	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	577					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CATTACAATTCTGTCGCCAAT	0.433000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	112					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70514312	70514312	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:70514312G>A	ENST00000377844.4	-	4	1633	c.874C>T	c.(874-876)Ctt>Ttt	p.L292F	KLHL1_ENST00000545028.1_Missense_Mutation_p.L99F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	292					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGAAGCTGAAGAAGGCACGCT	0.433000													5	19					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168271636	168271636	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:168271636G>T	ENST00000519560.1	-	6	929	c.510C>A	c.(508-510)agC>agA	p.S170R	SLIT3_ENST00000404867.3_Missense_Mutation_p.S170R|SLIT3_ENST00000332966.8_Missense_Mutation_p.S170R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	170					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCAATGCAGCTGATGTGGT	0.597000													8	30					3.09899e-07	3.12916e-07	1	1	0
FBN3	84467	broad.mit.edu	37	19	8148155	8148155	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:8148155C>T	ENST00000600128.1	-	57	7603	c.7189G>A	c.(7189-7191)Gat>Aat	p.D2397N	FBN3_ENST00000601739.1_Missense_Mutation_p.D2397N|FBN3_ENST00000270509.2_Missense_Mutation_p.D2397N			Q75N90	FBN3_HUMAN	fibrillin 3	2397	EGF-like 38; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGTAGCATCCGGTGTGTAC	0.607000													24	114					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73551077	73551077	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:73551077G>A	ENST00000224721.6	+	46	6258	c.6253G>A	c.(6253-6255)Gag>Aag	p.E2085K		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2080	Cadherin 20.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCATCTGCTAGAGAACTGCCC	0.637000													4	22					0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54554694	54554694	+	Missense_Mutation	SNP	C	C	T	rs147285202	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:54554694C>T	ENST00000338372.2	-	4	539	c.364G>A	c.(364-366)Gat>Aat	p.D122N	VSTM1_ENST00000376626.1_Missense_Mutation_p.D122N|VSTM1_ENST00000366170.2_Missense_Mutation_p.D34N|VSTM1_ENST00000425006.2_Missense_Mutation_p.D122N	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	122						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCAAGTTCATCGTGTTTATCT	0.393000													6	21					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24794630	24794630	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:24794630G>A	ENST00000310677.4	-	15	1889	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	ADCY4_ENST00000396747.3_Silent_p.F285F|ADCY4_ENST00000418030.2_Silent_p.F592F|ADCY4_ENST00000554068.2_Silent_p.F592F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	592					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GAAAAACCAGGAAGGTGCAGG	0.532000													8	45					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940270	31940270	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:31940270C>T	ENST00000375331.2	+	2	578	c.412C>T	c.(412-414)Cct>Tct	p.P138S	STK19_ENST00000375333.2_Missense_Mutation_p.P138S|STK19_ENST00000463823.1_3'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	138						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GGAGTCGGATCCTCTTCGGGG	0.612000													5	99					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121692677	121692677	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:121692677T>C	ENST00000369075.3	+	17	2991	c.2919T>C	c.(2917-2919)taT>taC	p.Y973Y	SEC23IP_ENST00000543134.1_Silent_p.Y762Y|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	973	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACTTATGCTATTGGTAAGTGT	0.368000													12	62					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114450894	114450894	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:114450894C>T	ENST00000375478.3	-	5	1239	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	NXPE4_ENST00000424261.2_Silent_p.T69T	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		ACTGGCGGATCGTGGAATCTC	0.413000													7	129					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94640213	94640213	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:94640213C>T	ENST00000260526.6	-	23	3180	c.2998G>A	c.(2998-3000)Gat>Aat	p.D1000N		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1000					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTTGACCTATCAGATTTCAGA	0.418000													21	85					0	0	1	0	0
ZADH2	284273	broad.mit.edu	37	18	72913800	72913800	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:72913800C>T	ENST00000322342.3	-	2	994	c.705G>A	c.(703-705)caG>caA	p.Q235Q	ZADH2_ENST00000537114.2_Silent_p.Q112Q	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	235						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CAGGGTACTCCTGCTTAAGGA	0.478000													4	79					0	0	1	0	0
SERPINB10	5273	broad.mit.edu	37	18	61597359	61597359	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:61597359G>A	ENST00000238508.3	+	6	630	c.571G>A	c.(571-573)Gga>Aga	p.G191R		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				ATACTTTAAAGGAATCTGGGA	0.393000													11	63					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103968	53103968	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:53103968G>A	ENST00000408890.4	+	1	620	c.604G>A	c.(604-606)Gac>Aac	p.D202N		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	202										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGAGGTCTCAGACAGCAAGGG	0.672000													7	93					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65113553	65113553	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:65113553G>A	ENST00000371073.2	+	9	1226	c.1226G>A	c.(1225-1227)gGt>gAt	p.G409D	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.G358D			Q5VU97	CAHD1_HUMAN	cache domain containing 1	409	VWFA.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGAAGTACGGTGTGCCAGAC	0.512000													9	47					0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129825186	129825186	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:129825186G>A	ENST00000397622.2	-	7	919	c.797C>T	c.(796-798)cCt>cTt	p.P266L	TMEM209_ENST00000462753.1_Missense_Mutation_p.P265L|TMEM209_ENST00000473456.1_Missense_Mutation_p.P266L|TMEM209_ENST00000336804.8_Missense_Mutation_p.P265L|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	266						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					ACTGCTGGAAGGAGAGGTAGA	0.413000													13	163					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48382187	48382187	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:48382187G>A	ENST00000224600.4	-	4	3575	c.3462C>T	c.(3460-3462)ttC>ttT	p.F1154F		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1154	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGATATAGGTGAACTCCTCCG	0.597000													5	40					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110754401	110754401	+	Missense_Mutation	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:110754401T>C	ENST00000369787.3	+	1	307	c.280T>C	c.(280-282)Ttc>Ctc	p.F94L	KCNC4_ENST00000413138.3_Missense_Mutation_p.F94L|KCNC4_ENST00000438661.2_Missense_Mutation_p.F94L	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	94					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		gggctgcgAGTTCTTCTTCGA	0.736000													5	28					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257841	18257841	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:18257841C>T	ENST00000286479.3	+	2	435	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	110					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TCACCTTCTCCTGCAGGTGAC	0.483000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				10	89					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142281548	142281548	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:142281548G>A	ENST00000378004.3	+	7	1001	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E216K	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	216					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATGGTTACGAACTGGCCAA	0.453000													7	80					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829338	146829338	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:146829338G>A	ENST00000361727.3	+	8	1601	c.1083_splice	c.e8-1	p.G362_splice		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	362	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G362E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTTTACAGGGAAATTTGAGC	0.433000										HNSCC(39;0.1)			21	42					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85466569	85466569	+	Silent	SNP	C	C	T	rs150088516		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:85466569C>T	ENST00000369663.5	-	4	955	c.618G>A	c.(616-618)tcG>tcA	p.S206S	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Silent_p.S48S	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	206					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCATCCATTTCGAACTGTGGT	0.488000													6	34					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077901	19077901	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:19077901C>T	ENST00000329773.2	-	2	136	c.49G>A	c.(49-51)Gga>Aga	p.G17R		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	17					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TGGTCATTTCCATTCACTGTT	0.527000													46	265					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179621214	179621214	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179621214G>A	ENST00000589042.1	-	46	11213	c.10989C>T	c.(10987-10989)ttC>ttT	p.F3663F	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000342175.6_Silent_p.F3492F|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3348	Ig-like 22.						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)			GAAGATGCAGGAAAATCTTGG	0.458000													4	40					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107578611	107578611	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:107578611G>A	ENST00000374736.3	-	25	3945	c.3551C>T	c.(3550-3552)tCc>tTc	p.S1184F		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1184					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GATGAGGTTGGAGATAGCAGA	0.557000													13	47					0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945476	119945476	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:119945476C>T	ENST00000297350.4	-	2	472	c.94G>A	c.(94-96)Gac>Aac	p.D32N		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	32					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GTTTCTTCGTCATAATGAAGG	0.468000													10	136					0	0	1	0	0
FUT4	2526	broad.mit.edu	37	11	94278655	94278655	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:94278655C>T	ENST00000358752.2	+	1	1639	c.1356C>T	c.(1354-1356)ccC>ccT	p.P452P	RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	452					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTTTGTGCCCCGCGGCGCCT	0.647000													5	68					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46825152	46825152	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:46825152C>T	ENST00000339613.2	+	10	1351	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	HIF3A_ENST00000600383.1_Silent_p.L353L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000420102.2_Silent_p.L371L|HIF3A_ENST00000377670.4_Silent_p.L422L|HIF3A_ENST00000244303.6_Silent_p.L353L|HIF3A_ENST00000300862.3_Silent_p.L420L|HIF3A_ENST00000472815.1_Silent_p.L353L			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	422					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)		GGGACCCATCCTGGATGGGGC	0.672000													16	68					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070231	9070231	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9070231C>T	ENST00000397910.4	-	3	17418	c.17215G>A	c.(17215-17217)Gat>Aat	p.D5739N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5741	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						GTGTGTGAATCAGCTGGGACA	0.483000													13	96					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434202	179434202	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179434202C>T	ENST00000589042.1	-	326	76881	c.76657G>A	c.(76657-76659)Gat>Aat	p.D25553N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16488N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16613N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D23912N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D16680N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D22985N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23912	Fibronectin type-III 86.						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)			ATAGCTGCATCTCGGATTTCA	0.393000													5	34					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114262971	114262971	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:114262971G>A	ENST00000357077.4	+	33	4074	c.4021G>A	c.(4021-4023)Gaa>Aaa	p.E1341K	ANK2_ENST00000394537.3_Missense_Mutation_p.E1341K|ANK2_ENST00000264366.6_Missense_Mutation_p.E1308K|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000509550.1_Missense_Mutation_p.E517K|ANK2_ENST00000506722.1_Missense_Mutation_p.E1332K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1308					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGACCCCATTGAAGCCAGGTT	0.423000													19	85					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768661	31768661	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:31768661C>T	ENST00000240587.4	-	2	2365	c.2038G>A	c.(2038-2040)Gat>Aat	p.D680N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	680					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)					GGGCTCCCATCCTTGCACCCA	0.652000													6	54					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12906682	12906682	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:12906682C>T	ENST00000380659.3	+	3	3194	c.3055C>T	c.(3055-3057)Ccg>Tcg	p.P1019S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	1019	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GCCAACAAACCCGCAAGCTCA	0.498000													46	104					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187501808	187501808	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:187501808C>T	ENST00000261023.3	+	8	1048	c.774C>T	c.(772-774)gtC>gtT	p.V258V	ITGAV_ENST00000433736.2_Silent_p.V212V|ITGAV_ENST00000374907.3_Silent_p.V222V	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	258					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|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|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CTGTGGCTGTCGGAGATTTCA	0.368000													13	97					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012269	29012269	+	Silent	SNP	C	C	T	rs144276666		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:29012269C>T	ENST00000377175.1	-	1	748	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T228T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTTTTGACTTCGTTCTCAGCA	0.393000													9	148					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8990110	8990110	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:8990110G>A	ENST00000299698.7	+	8	983	c.803G>A	c.(802-804)cGa>cAa	p.R268Q		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	112						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						TACTGGTATCGAGAGGTGGAA	0.493000													7	56					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136529109	136529109	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:136529109C>T	ENST00000371872.4	-	21	2916	c.2659G>A	c.(2659-2661)Gac>Aac	p.D887N	SARDH_ENST00000439388.1_Missense_Mutation_p.D887N|SARDH_ENST00000422262.2_Missense_Mutation_p.D719N|SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000371868.1_Missense_Mutation_p.D337N	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	887					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AGGGCATAGTCCCCGCTCTTC	0.577000													15	35					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72267020	72267020	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:72267020C>T	ENST00000340726.3	-	3	760	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	EYA1_ENST00000388740.3_Intron|EYA1_ENST00000303824.7_Missense_Mutation_p.E41K|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000388743.2_Missense_Mutation_p.E41K|EYA1_ENST00000419131.1_Missense_Mutation_p.E41K|EYA1_ENST00000388742.4_Missense_Mutation_p.E41K	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	41					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CACTCACCTTCGGTGCCATTG	0.433000													13	106					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41202555	41202555	+	Silent	SNP	T	T	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:41202555T>C	ENST00000399959.2	+	7	1485	c.630T>C	c.(628-630)gcT>gcC	p.A210A	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Silent_p.A194A|DDX3X_ENST00000542215.1_Silent_p.A254A|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	210					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						AAAAGCATGCTATTCCTATTA	0.378000										HNSCC(61;0.18)			6	19					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3081315	3081315	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:3081315C>T	ENST00000520002.1	-	29	4978	c.4423G>A	c.(4423-4425)Ggg>Agg	p.G1475R	CSMD1_ENST00000602723.1_Missense_Mutation_p.G1475R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1474R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1474R|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1475R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1474R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1475R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1475	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATTCCTTCCCAGGAGGATAC	0.473000													6	73					0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124598641	124598641	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:124598641G>A	ENST00000368904.1	-	5	1289	c.340C>T	c.(340-342)Cct>Tct	p.P114S	CUZD1_ENST00000545804.1_Missense_Mutation_p.P114S|CUZD1_ENST00000392790.1_Missense_Mutation_p.P114S			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	114	CUB 1.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TCAAATACAGGAACATAGTCG	0.408000													12	186					0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113890349	113890349	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:113890349C>T	ENST00000361779.3	+	6	678	c.333C>T	c.(331-333)ttC>ttT	p.F111F	IL1RN_ENST00000409930.3_Silent_p.F145F|IL1RN_ENST00000354115.2_Silent_p.F127F|IL1RN_ENST00000259206.5_Silent_p.F148F|IL1RN_ENST00000409052.1_Silent_p.F111F	NM_173843.2	NP_776215.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	145					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	CCGGTTGGTTCCTCTGCACAG	0.577000									Lichen Sclerosis et Atrophicus, Familial Clustering of				22	98					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818797	159818797	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:159818797G>A	ENST00000497452.1	-	0	517																											AGACAAAAACGATCATGACAA	0.488000													47	175					0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44591126	44591126	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:44591126C>T	ENST00000421176.3	+	5	1711	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TTCAAAACTTCGTTTCCATCA	0.418000													5	34					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152320385	152320385	+	Missense_Mutation	SNP	C	C	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:152320385C>A	ENST00000243326.4	+	29	4834	c.4351C>A	c.(4351-4353)Ctt>Att	p.L1451I	RIF1_ENST00000428287.2_Missense_Mutation_p.L1451I|RIF1_ENST00000430328.2_Missense_Mutation_p.L1451I|RIF1_ENST00000444746.2_Missense_Mutation_p.L1451I|RIF1_ENST00000453091.2_Missense_Mutation_p.L1451I			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1451					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGAAAAACCTCTTCAGAAGAG	0.358000													14	47					4.3838e-07	4.42555e-07	1	1	0
SH3D19	152503	broad.mit.edu	37	4	152096188	152096188	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:152096188C>T	ENST00000409598.4	-	7	1495	c.328G>A	c.(328-330)Ggc>Agc	p.G110S	SH3D19_ENST00000455740.1_Missense_Mutation_p.G110S|SH3D19_ENST00000304527.4_Missense_Mutation_p.G110S|SH3D19_ENST00000409252.2_Missense_Mutation_p.G110S|SH3D19_ENST00000514152.1_Missense_Mutation_p.G110S|SH3D19_ENST00000424281.1_Missense_Mutation_p.G110S|SH3D19_ENST00000427414.2_Missense_Mutation_p.G110S			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	110	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CGTATAAGGCCAGGGTTTGGT	0.547000													6	104					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563268	129563268	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:129563268G>A	ENST00000422113.2	-	8	2252	c.1926C>T	c.(1924-1926)atC>atT	p.I642I	TMEM132D_ENST00000389441.4_Silent_p.I180I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	642						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GAGGAGACAGGATCTGGAGGG	0.587000													9	53					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24185081	24185081	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:24185081C>T	ENST00000396671.2	-	8	997	c.649G>A	c.(649-651)Gag>Aag	p.E217K	THRB_ENST00000280696.5_Missense_Mutation_p.E232K|THRB_ENST00000356447.4_Missense_Mutation_p.E217K|THRB_ENST00000416420.1_Missense_Mutation_p.E217K	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	217					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)	TCCCATTCCTCGTCTGTGGGC	0.567000													15	78					0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81283924	81283924	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:81283924G>A	ENST00000358105.3	+	2	177	c.128G>A	c.(127-129)cGc>cAc	p.R43H	C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.R43H	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	43										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ACCCTGGCCCGCCAGTTGGTG	0.443000													18	106					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115398061	115398061	+	Splice_Site	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:115398061G>A	ENST00000369522.3	+	2	216		c.e2-1		SYCP1_ENST00000369518.1_Splice_Site	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1						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)		CGGGGCAGTAGATATTTACAA	0.448000													5	37					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2050068	2050068	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:2050068G>A	ENST00000563630.1	-	9	1559	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P	ZNF598_ENST00000562103.1_Silent_p.P439P|ZNF598_ENST00000431526.1_Silent_p.P494P			Q86UK7	ZN598_HUMAN	zinc finger protein 598	494						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TGCCAGGCTTGGGCACCGAGG	0.687000													5	13					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13923469	13923469	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:13923469C>T	ENST00000265104.4	-	4	462	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	120	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D120N(1)		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)					AGAGCCACATCGTTTCCCTCG	0.458000									Kartagener syndrome				26	143					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96135875	96135875	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:96135875C>T	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		cacctttgtcctgttttctac	0.527000			T	TRA@	T-ALL								8	35					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585020	82585020	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:82585020C>T	ENST00000423517.2	-	5	5586	c.5249G>A	c.(5248-5250)gGa>gAa	p.G1750E	PCLO_ENST00000333891.8_Missense_Mutation_p.G1750E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1681					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G1750E(2)|p.G1681E(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						TTTGCTCTCTCCTTTTTTGTG	0.473000													27	111					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103907109	103907109	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:103907109C>T	ENST00000278070.2	+	9	4399	c.4360C>T	c.(4360-4362)Cgg>Tgg	p.R1454W	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R421W	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1454	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATCCCGATCTCGGTCCAGGTC	0.582000													7	69					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160819	132160819	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:132160819G>A	ENST00000511190.1	-	6	1899	c.1430C>T	c.(1429-1431)tCa>tTa	p.S477L	USP26_ENST00000406273.1_Missense_Mutation_p.S477L|USP26_ENST00000370832.1_Missense_Mutation_p.S477L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	477					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTGAATAGATGAAGGATGTGC	0.393000													32	107					0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58471423	58471423	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:58471423C>T	ENST00000219919.4	+	5	962	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	AQP9_ENST00000536493.1_Missense_Mutation_p.L198F|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.L133F	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	198					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TGCCATCGGCCTCCTGATTAT	0.552000													6	33					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179720109	179720109	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:179720109C>T	ENST00000420890.2	-	19	3142	c.3025G>A	c.(3025-3027)Gac>Aac	p.D1009N	CCDC141_ENST00000295723.5_Missense_Mutation_p.D434N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	434							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCAGTCAGGTCCAAATTCTTC	0.353000													16	42					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700836	136700836	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:136700836C>T	ENST00000445907.2	+	3	1752	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	CHRM2_ENST00000320658.5_Silent_p.L408L|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Silent_p.L408L|CHRM2_ENST00000453373.1_Silent_p.L408L|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Silent_p.L408L|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000401861.1_Silent_p.L408L|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	408					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCATGGTGCTCATTAACACCT	0.478000													11	146					0	0	1	0	0
LIME1	54923	broad.mit.edu	37	20	62370244	62370244	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:62370244C>T	ENST00000309546.3	+	6	966	c.879C>T	c.(877-879)tcC>tcT	p.S293S	LIME1_ENST00000490824.1_3'UTR|ZGPAT_ENST00000490623.1_3'UTR	NM_017806.2	NP_060276.2			Lck interacting transmembrane adaptor 1											kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TCCCTGCCTCCCTGCCCTGAA	0.721000													5	15					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42266899	42266899	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr22:42266899G>T	ENST00000361204.4	+	4	893	c.727G>T	c.(727-729)Gtc>Ttc	p.V243F		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	243	Gln-rich.|Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCAGGTCCTGGTCCAGCCTCA	0.473000													16	109					1.5739e-10	1.59259e-10	1	1	0
CD86	942	broad.mit.edu	37	3	121822543	121822543	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121822543G>A	ENST00000330540.2	+	3	365	c.249G>A	c.(247-249)atG>atA	p.M83I	CD86_ENST00000493101.1_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.M77I|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Start_Codon_SNP_p.M1I	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	83	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CCAAGTATATGGGCCGCACAA	0.418000													25	93					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99356564	99356564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:99356564C>T	ENST00000376503.5	-	17	1450	c.1395G>A	c.(1393-1395)tgG>tgA	p.W465*		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	465					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	GATTGGGGGCCCACACTAGAA	0.458000													23	82					0	0	1	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89246904	89246904	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:89246904G>A	ENST00000496168.1	-	0	446																											TTCTGTCCCAGATCCACTGCC	0.478000													12	120					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418267	38418267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr5:38418267C>T	ENST00000322350.5	+	12	1940	c.1594C>T	c.(1594-1596)Caa>Taa	p.Q532*	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Nonsense_Mutation_p.Q298*|EGFLAM_ENST00000354891.3_Nonsense_Mutation_p.Q532*	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	532	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCGAGGCTTTCAAGGCTGTGT	0.547000													13	41					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31652477	31652477	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr20:31652477C>T	ENST00000375494.3	+	8	750	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	250					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	p.I250I(1)									TGCAGCCTATCGTGAAGAGTG	0.607000													14	42					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142573598	142573598	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142573598G>A	ENST00000359396.3	-	7	1067	c.822C>T	c.(820-822)acC>acT	p.T274T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	274					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGAGAGTCGAGGTCAGTGGTC	0.522000													40	70					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114240331	114240331	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:114240331G>A	ENST00000369604.1	-	19	2768	c.2285C>T	c.(2284-2286)tCa>tTa	p.S762L	PHTF1_ENST00000393357.2_Missense_Mutation_p.S762L|PHTF1_ENST00000369598.1_Missense_Mutation_p.S717L|PHTF1_ENST00000369600.1_Missense_Mutation_p.S709L|PHTF1_ENST00000369596.2_Missense_Mutation_p.S709L|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	762						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		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)		CTCAGCTTATGATTTAATTTT	0.388000													8	35					0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417318	54417318	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:54417318G>A	ENST00000245451.4	-	4	1052	c.659C>T	c.(658-660)gCg>gTg	p.A220V	BMP4_ENST00000417573.1_Missense_Mutation_p.A220V|BMP4_ENST00000558984.1_Missense_Mutation_p.A220V|BMP4_ENST00000559087.1_Missense_Mutation_p.A220V	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	220					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GCGAAGGACCGCAGGGCTCAC	0.587000													17	81					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235794	3235794	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:3235794C>T	ENST00000217939.6	-	6	6082	c.5928G>A	c.(5926-5928)ggG>ggA	p.G1976G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1976	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGCTGGGGTCCCTTTGGCCA	0.592000													7	26					0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97377634	97377634	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:97377634G>A	ENST00000264963.4	-	5	658	c.636C>T	c.(634-636)ttC>ttT	p.F212F	LMAN2L_ENST00000537039.1_Silent_p.F74F|LMAN2L_ENST00000534882.1_Silent_p.F67F|LMAN2L_ENST00000426463.2_Silent_p.F78F|LMAN2L_ENST00000377079.4_Silent_p.F223F	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	212	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GAATCACCAGGAAGGTGTCGT	0.572000													4	82					0	0	1	0	0
GPR183	1880	broad.mit.edu	37	13	99947440	99947440	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:99947440C>T	ENST00000376414.4	-	2	1043	c.960G>A	c.(958-960)atG>atA	p.M320I	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	320					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TCAGCATCCTCATAACCTTTC	0.408000													17	50					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043953	56043953	+	Missense_Mutation	SNP	C	C	T	rs149057096	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:56043953C>T	ENST00000313033.2	+	1	925	c.839C>T	c.(838-840)tCg>tTg	p.S280L		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S280L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AGCTACACTTCGGACAATGAC	0.408000													27	117					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863245	55863245	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:55863245G>A	ENST00000327335.4	-	1	677	c.678C>T	c.(676-678)ttC>ttT	p.F226F	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	226					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						GAGCTGAAGGGAATTTCAGAA	0.358000													12	95					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167035297	167035297	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:167035297C>T	ENST00000392766.2	-	13	1412	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	ZBBX_ENST00000392767.2_Missense_Mutation_p.E358K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E358K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E358K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E329K|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	358						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCATCGTTTTCATTTTGAGAA	0.333000													5	63					0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71849911	71849911	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr10:71849911G>A	ENST00000373255.4	+	3	532	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	90	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CAATGACGAGGAGCTCAACCA	0.547000													7	80					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21252650	21252650	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:21252650C>T	ENST00000233242.1	-	12	1605	c.1478G>A	c.(1477-1479)gGa>gAa	p.G493E	APOB_ENST00000399256.4_Missense_Mutation_p.G493E	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	493	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCCCATATTTCCAATGACCTG	0.428000													19	79					0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29202985	29202985	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:29202985C>T	ENST00000240101.2	-	2	1621	c.62G>A	c.(61-63)aGg>aAg	p.R21K	DUSP4_ENST00000240100.2_Intron	NM_057158.3	NP_476499.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	0					endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		TCTCCCAGTCCTCCTGGGCGA	0.557000													5	69					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121350723	121350723	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:121350723G>A	ENST00000314583.3	-	14	1522	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	HCLS1_ENST00000428394.2_Silent_p.F440F|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	477	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		AATTTGCAGGGAAGAGTCCAA	0.532000													15	72					0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389030	57389030	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:57389030G>A	ENST00000300098.1	+	2	256	c.37G>A	c.(37-39)Gag>Aag	p.E13K		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	13						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						TGGCCCCTCGGAGGGGGTCAC	0.597000													24	117					0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18237529	18237529	+	Missense_Mutation	SNP	A	A	C			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:18237529A>C	ENST00000229002.2	-	5	463	c.257T>G	c.(256-258)aTc>aGc	p.I86S	RERGL_ENST00000536890.1_Intron|RERGL_ENST00000538724.1_Missense_Mutation_p.I85S|RERGL_ENST00000541632.1_5'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	86	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CCTATCACTGATGTCATACAC	0.393000													13	80					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110590218	110590218	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:110590218C>T	ENST00000399066.3	-	5	1481	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	SYBU_ENST00000528647.1_Missense_Mutation_p.E254K|SYBU_ENST00000422135.1_Missense_Mutation_p.E255K|SYBU_ENST00000446070.2_Missense_Mutation_p.E254K|SYBU_ENST00000533895.1_Missense_Mutation_p.E254K|SYBU_ENST00000276646.9_Missense_Mutation_p.E255K|SYBU_ENST00000528331.1_Missense_Mutation_p.E136K|SYBU_ENST00000533171.1_Missense_Mutation_p.E255K|SYBU_ENST00000419099.1_Missense_Mutation_p.E254K|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000408908.2_Missense_Mutation_p.E255K|SYBU_ENST00000440310.1_Missense_Mutation_p.E255K|SYBU_ENST00000529690.1_Missense_Mutation_p.E125K|SYBU_ENST00000408889.3_Missense_Mutation_p.E136K|SYBU_ENST00000532779.1_Missense_Mutation_p.E187K|SYBU_ENST00000433638.1_Missense_Mutation_p.E255K|SYBU_ENST00000529175.1_Missense_Mutation_p.E49K|SYBU_ENST00000533065.1_Missense_Mutation_p.E136K|SYBU_ENST00000424158.2_Missense_Mutation_p.E260K	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	255	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCATGATTTTCACCGCAAGAC	0.433000													11	161					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36778761	36778761	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:36778761C>T	ENST00000416516.2	-	2	1880	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	464	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGACGAGGGCTTTGCATAAG	0.517000													6	38					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55505754	55505754	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:55505754G>A	ENST00000543010.1	+	11	2969	c.2826G>A	c.(2824-2826)atG>atA	p.M942I	NLRP2_ENST00000427260.2_Missense_Mutation_p.M919I|NLRP2_ENST00000391721.4_Missense_Mutation_p.M918I|NLRP2_ENST00000339757.7_Missense_Mutation_p.M920I|NLRP2_ENST00000537859.1_Missense_Mutation_p.M920I|NLRP2_ENST00000263437.6_Missense_Mutation_p.M939I|NLRP2_ENST00000448584.2_Missense_Mutation_p.M942I|NLRP2_ENST00000538819.1_Missense_Mutation_p.M918I	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	942					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)		TTAAGGGAATGAAGTTCCTGT	0.428000													15	84					0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148562531	148562531	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:148562531G>A	ENST00000491148.1	+	9	1089	c.755G>A	c.(754-756)aGa>aAa	p.R252K	CPB1_ENST00000282957.4_Missense_Mutation_p.R252K			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	252					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GACCCCAACAGAAATTTTGAT	0.403000													9	73					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173734834	173734834	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:173734834C>T	ENST00000506823.1	+	7	1540	c.883C>T	c.(883-885)Cct>Tct	p.P295S	GALNTL6_ENST00000508122.1_Missense_Mutation_p.P278S	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	295						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AATCCCCATCCCTCCAGAGCT	0.557000													8	36					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69030850	69030850	+	Missense_Mutation	SNP	C	C	T	rs150128151		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:69030850C>T	ENST00000288368.4	+	27	3669	c.3392C>T	c.(3391-3393)tCg>tTg	p.S1131L		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1131					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGTGCAGCTCGTATTTCCAC	0.438000													12	80					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071149	70071149	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:70071149G>A	ENST00000370598.1	+	29	4805	c.3984G>A	c.(3982-3984)atG>atA	p.M1328I	BAI3_ENST00000546190.1_Missense_Mutation_p.M292I|BAI3_ENST00000238918.8_Missense_Mutation_p.M534I	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1328					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAAGCAAAATGAATATTGGCA	0.383000													11	63					0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10312174	10312174	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:10312174C>T	ENST00000287652.4	+	4	2359	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.A436A	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	436						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ACATGGAGGCCTCAGAGGAAG	0.522000													16	85					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72163011	72163011	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:72163011C>T	ENST00000537465.1	-	13	2077	c.1919G>A	c.(1918-1920)gGa>gAa	p.G640E	PMFBP1_ENST00000237353.10_Missense_Mutation_p.G635E|PMFBP1_ENST00000355636.6_Missense_Mutation_p.G490E			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	640										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)				TTCAAGTTCTCCCTCCATCAG	0.488000													64	230					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159275794	159275794	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:159275794G>A	ENST00000368115.1	+	5	447	c.348G>A	c.(346-348)caG>caA	p.Q116Q	FCER1A_ENST00000368114.1_Silent_p.Q83Q	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	116	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGCTCCTTCAGGCCTCTGCTG	0.458000													9	34					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086083	92086083	+	Missense_Mutation	SNP	G	G	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:92086083G>T	ENST00000298047.6	+	1	822	c.805G>T	c.(805-807)Gtc>Ttc	p.V269F	FAT3_ENST00000541502.1_Missense_Mutation_p.V269F|FAT3_ENST00000525166.1_Missense_Mutation_p.V119F|FAT3_ENST00000409404.2_Missense_Mutation_p.V269F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	269	Cadherin 3.				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)				AATCCATGTAGTCACTCATGT	0.438000										TCGA Ovarian(4;0.039)			13	110					0.00010058	0.000101216	1	1	0
ARHGAP31	57514	broad.mit.edu	37	3	119099807	119099807	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:119099807C>T	ENST00000264245.4	+	4	937	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	135	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						AAAATGTTATCCAGGAGCTTC	0.507000													7	53					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854438	18854438	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:18854438C>T	ENST00000266505.7	-	9	1277	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	PLCZ1_ENST00000435379.1_Silent_p.K143K|PLCZ1_ENST00000539875.1_Silent_p.K145K|PLCZ1_ENST00000538330.1_Silent_p.K120K|PLCZ1_ENST00000541695.1_Silent_p.K201K|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000447925.2_Silent_p.K336K			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	338					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)					ACCTCACCTTCTTTTTCTTGA	0.308000													7	39					0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77417884	77417884	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:77417884G>A	ENST00000322886.7	-	13	2882	c.2647C>T	c.(2647-2649)Cct>Tct	p.P883S	E2F7_ENST00000416496.2_3'UTR	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	883					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TTCAGGACAGGGTCTCCAAGG	0.532000													10	100					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10434961	10434961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:10434961G>A	ENST00000245503.5	-	22	3070	c.2686C>T	c.(2686-2688)Caa>Taa	p.Q896*	MYH2_ENST00000397183.2_Nonsense_Mutation_p.Q896*|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	896					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						GCCTGAACTTGGAGCTGCAAG	0.438000													18	56					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138644168	138644168	+	Missense_Mutation	SNP	G	G	A	rs137852267		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:138644168G>A	ENST00000218099.2	+	8	1331	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R	F9_ENST00000394090.2_Missense_Mutation_p.G404R	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	442	Peptidase S1.		G -> E (in HEMB).|G -> R (in HEMB; severe; Angers).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AGGCAAATATGGAATATATAC	0.398000													5	55					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769547	15769547	+	Missense_Mutation	SNP	C	C	T	rs141482165		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:15769547C>T	ENST00000221307.7	+	12	1373	c.1325C>T	c.(1324-1326)cCc>cTc	p.P442L	CYP4F3_ENST00000591058.1_Missense_Mutation_p.P442L|CYP4F3_ENST00000585846.1_Missense_Mutation_p.P442L|CYP4F3_ENST00000586182.1_Missense_Mutation_p.P442L	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	442					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GTCTATGACCCCTTTCGCTTT	0.587000													27	138					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767606	31767606	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:31767606G>A	ENST00000240587.4	-	2	3420	c.3093C>T	c.(3091-3093)tcC>tcT	p.S1031S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1031					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)					CCTCGGGGGAGGACGTCACCA	0.493000													7	40					0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468343	35468343	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:35468343C>T	ENST00000381151.3	+	2	1358	c.846C>T	c.(844-846)atC>atT	p.I282I	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	282						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ACCAAGTCATCGTGCAGAGGG	0.483000													15	75					0	0	1	0	0
TPSG1	25823	broad.mit.edu	37	16	1271997	1271997	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:1271997C>T	ENST00000234798.4	-	6	761	c.757G>A	c.(757-759)Gga>Aga	p.G253R		NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	253	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GTGTAGACTCCCGGCCTGTTG	0.687000													5	62					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089035	9089035	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9089035G>A	ENST00000397910.4	-	1	2983	c.2780C>T	c.(2779-2781)tCa>tTa	p.S927L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	927	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						GTTTGTAACTGAGGTACTGCT	0.493000													11	46					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892255	2892255	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr18:2892255G>A	ENST00000254528.3	+	4	2289	c.2130G>A	c.(2128-2130)gaG>gaA	p.E710E		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	710					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CTCATATGGAGAAAACTTGCA	0.547000													16	83					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211055	59211055	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:59211055C>T	ENST00000302030.2	+	1	439	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACCCCACTATCATGACCCAGG	0.542000													44	226					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322440	55322440	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55322440C>T	ENST00000314644.2	+	1	658	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTTCCAGCTTCCCTTTTGTGG	0.478000										HNSCC(20;0.049)			3	41					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174856	51174856	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:51174856C>T	ENST00000440970.1	-	2	1417	c.986G>A	c.(985-987)aGa>aAa	p.R329K	SALL1_ENST00000251020.4_Missense_Mutation_p.R426K|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	426					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTTGCTTTTTCTTTGCTGGGC	0.507000													6	105					0	0	1	0	0
CTRC	11330	broad.mit.edu	37	1	15770004	15770004	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:15770004C>T	ENST00000375949.4	+	5	473	c.447C>T	c.(445-447)ctC>ctT	p.L149L	CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	149	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCCTGCTCCCCAAGGACT	0.582000													34	208					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50744693	50744693	+	Missense_Mutation	SNP	G	G	A	rs104895424		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:50744693G>A	ENST00000300589.2	+	4	976	c.871G>A	c.(871-873)Gat>Aat	p.D291N	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	291			D -> N (associated with Crohn disease).		activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCTCAATGACGATGCGGACAC	0.662000													4	21					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177632734	177632734	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr4:177632734G>A	ENST00000280193.2	-	4	1038	c.623C>T	c.(622-624)tCc>tTc	p.S208F	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	208					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GCATCGGCAGGAAGTGTGATT	0.393000													15	87					0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566459	5566459	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:5566459C>T	ENST00000322653.4	-	1	320	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E99K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGTGATTTCGCGAGCCCCT	0.468000													6	63					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214825	161214825	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:161214825C>T	ENST00000327928.4	+	1	230	c.230C>T	c.(229-231)tCt>tTt	p.S77F		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	77						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GCCTTGGATTCTGTCTTTGGC	0.473000													25	133					0	0	1	0	0
MIR7162	102466227	broad.mit.edu	37	15	62539735	62539735	+	RNA	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr15:62539735C>T	ENST00000570077.1	-	0	170																											AGGTGTGCTTCCAGCTGTGCC	0.552000													5	24					0	0	1	0	0
C17orf67	339210	broad.mit.edu	37	17	54872508	54872508	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:54872508G>A	ENST00000397861.2	-	7	1469	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	C17orf67_ENST00000575658.1_Missense_Mutation_p.R88C|C17orf67_ENST00000397862.2_Missense_Mutation_p.R88C			Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	88						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TCCTCAGCGCGATGCTCCAGG	0.552000													4	37					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72291720	72291720	+	Splice_Site	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr12:72291720C>T	ENST00000550746.1	+	11	1297	c.1234_splice	c.e11+1	p.I411_splice	TBC1D15_ENST00000319106.8_Splice_Site_p.I402_splice|TBC1D15_ENST00000485960.2_Splice_Site_p.I394_splice|TBC1D15_ENST00000393309.3_Splice_Site_p.I165_splice|TBC1D15_ENST00000548679.1_3'UTR	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	411	Rab-GAP TBC.						protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAAGTCTTATCGGTAATTTTT	0.353000													7	23					0	0	1	0	0
SUSD3	203328	broad.mit.edu	37	9	95838133	95838133	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr9:95838133C>T	ENST00000375472.3	+	2	192	c.156C>T	c.(154-156)tcC>tcT	p.S52S	SUSD3_ENST00000375469.1_Silent_p.S39S	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	52	Sushi.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						ATGGTGCTTCCGTGGGGACCG	0.637000													11	56					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729305	37729305	+	Silent	SNP	G	G	A	rs146665678	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:37729305G>A	ENST00000330843.4	-	4	3027	c.3015C>T	c.(3013-3015)gtC>gtT	p.V1005V	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1005					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAGGACAGGGGACTACCAAGC	0.552000													9	62					0	0	1	0	0
POLB	5423	broad.mit.edu	37	8	42207536	42207536	+	Missense_Mutation	SNP	T	T	G			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr8:42207536T>G	ENST00000265421.4	+	5	443	c.273T>G	c.(271-273)gaT>gaG	p.D91E	POLB_ENST00000538005.1_Intron	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	91					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	TTCGGCAGGATGATACGAGTT	0.343000								DNA polymerases (catalytic subunits)					9	57					0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103346790	103346790	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:103346790G>A	ENST00000267273.6	-	1	64	c.59C>T	c.(58-60)tCc>tTc	p.S20F		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	20							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						GCCACCCGGGGAGCTGAGTCC	0.592000													7	28					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436940	248436940	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:248436940G>A	ENST00000318021.2	-	1	198	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	59					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)			GGCTCAGGAGGAAGTACATGG	0.532000													8	101					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416102	82416102	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:82416102G>A	ENST00000370728.1	+	9	2073	c.1428G>A	c.(1426-1428)ggG>ggA	p.G476G	LPHN2_ENST00000370727.1_Silent_p.G476G|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Silent_p.G476G|LPHN2_ENST00000271029.4_Silent_p.G476G|LPHN2_ENST00000394879.1_Silent_p.G476G|LPHN2_ENST00000370730.1_Silent_p.G476G|LPHN2_ENST00000319517.6_Silent_p.G476G|LPHN2_ENST00000370717.2_Silent_p.G476G|LPHN2_ENST00000370725.1_Silent_p.G476G|LPHN2_ENST00000335786.5_Silent_p.G476G|LPHN2_ENST00000359929.3_Silent_p.G476G|LPHN2_ENST00000370721.1_Silent_p.G414G|LPHN2_ENST00000370723.1_Silent_p.G476G|LPHN2_ENST00000370715.1_Silent_p.G476G			O95490	LPHN2_HUMAN	latrophilin 2	476					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)		ACTCCAAGGGGATAAAGTGGC	0.418000													20	43					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102492	22102492	+	Silent	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr14:22102492G>A	ENST00000542433.1	-	1	604	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGGGCAGGCGGAAGGTCAAGG	0.552000													19	91					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038913	11038913	+	RNA	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:11038913G>A	ENST00000470054.1	-	0	1290									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)		TGTTGGGGAGGAAGACACATC	0.423000													18	365					0	0	1	0	0
TMEM99	147184	broad.mit.edu	37	17	38990992	38990992	+	Missense_Mutation	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:38990992C>T	ENST00000301665.3	+	3	528	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	75						integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GAGTTATTTTCCTTTCTTCGC	0.483000													11	138					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165183001	165183001	+	Silent	SNP	C	C	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:165183001C>T	ENST00000342310.3	-	5	928	c.546G>A	c.(544-546)ggG>ggA	p.G182G	LMX1A_ENST00000294816.2_Silent_p.G182G|LMX1A_ENST00000367893.4_Silent_p.G182G	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CAGTTCCTTTCCCTGCCCCAT	0.493000													12	147					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9014198	9014198	+	Missense_Mutation	SNP	G	G	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:9014198G>A	ENST00000397910.4	-	32	38653	c.38450C>T	c.(38449-38451)aCc>aTc	p.T12817I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12819				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						GGTCTGATGGGTGAAACCTGC	0.522000													9	71					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8716284	8716285	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:8716284_8716285delTC	ENST00000337907.3	-	3	706_707	c.72_73delGA	c.(70-75)gaaafs	p.EK24fs	RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	24					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGTCTCTTTTCtctctctctc	0.505													8	271	---	---	---	---					
GBP3	2635	broad.mit.edu	37	1	89478895	89478895	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:89478895delA	ENST00000370481.4	-	6	1061	c.841delT	c.(841-843)cafs	p.S281fs		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	281						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		ATGCCTCCTGAAAGAGTTTTA	0.438													26	129	---	---	---	---					
LOC100129620	100129620	broad.mit.edu	37	1	99474094	99474094	+	RNA	DEL	A	A	-	rs57656522		TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:99474094delA	ENST00000425113.1	+	0	370					NR_033940.1																						AACAGCAACTAAAAAAAAAAA	0.353													3	5	---	---	---	---					
FAM212B	55924	broad.mit.edu	37	1	112270123	112270123	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr1:112270123delT	ENST00000357260.5	-	2	542	c.361delA	c.(361-363)ggfs	p.R121fs	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Del_p.R106fs	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	121										cervix(1)|endometrium(1)	2						GGCTGTGTCCTGGGCAAGGGG	0.597													22	74	---	---	---	---					
SEMA4C	54910	broad.mit.edu	37	2	97531235	97531235	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr2:97531235delC	ENST00000305476.5	-	6	592	c.460delG	c.(460-462)atfs	p.D154fs		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	154	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						CCCTTCCCATCTTCAAACTCT	0.572													13	58	---	---	---	---					
CDV3	55573	broad.mit.edu	37	3	133292940	133292942	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr3:133292940_133292942delAAG	ENST00000264993.3	+	1	367_369	c.52_54delAAG	c.(52-54)del	p.K22del	CDV3_ENST00000431519.2_In_Frame_Del_p.K22del	NM_001134422.1|NM_017548.4	NP_001127894.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	22	Poly-Lys.				cell proliferation	cytoplasm				kidney(3)|lung(1)|prostate(1)	5						CAAGAGGGACAAGAAGAAGAAGA	0.744													3	4	---	---	---	---					
TFAP2A	7020	broad.mit.edu	37	6	10400698	10400699	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr6:10400698_10400699insT	ENST00000379613.3	-	6	1269_1270	c.1013_1014insA	c.(1012-1014)aatfs	p.N338fs	TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379604.2_Frame_Shift_Ins_p.N336fs|TFAP2A_ENST00000319516.4_Frame_Shift_Ins_p.N332fs|TFAP2A_ENST00000379608.3_Frame_Shift_Ins_p.N330fs|TFAP2A_ENST00000482890.1_Frame_Shift_Ins_p.N336fs			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	336	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CCAGGAGCATGTTTTTTCTTGT	0.441													20	106	---	---	---	---					
HIBADH	11112	broad.mit.edu	37	7	27672031	27672032	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:27672031_27672032insT	ENST00000265395.2	-	3	491_492	c.285_286insA	c.(283-288)aactgafs	p.N*95fs		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	95					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	ATTCTGTCAGCTTTTTCAGCAA	0.361													21	97	---	---	---	---					
ANLN	54443	broad.mit.edu	37	7	36436028	36436028	+	Splice_Site	DEL	G	G	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:36436028delG	ENST00000265748.2	+	2	393	c.172_splice	c.e2+1	p.E58_splice	ANLN_ENST00000396068.2_Splice_Site_p.E58_splice	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	58	Interaction with CD2AP.|Nuclear localization.				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						TGGTGGTGAAGGTAAAAGACT	0.433													7	69	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481471	142481472	+	RNA	INS	-	-	GCTTAA			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr7:142481471_142481472insGCTTAA	ENST00000603901.1	+	0	454					NR_001296.3																						CTCACCTCCAGGACACATTTCT	0.480													2	4	---	---	---	---					
OR8H3	390152	broad.mit.edu	37	11	55890533	55890533	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:55890533delA	ENST00000313472.3	+	1	685	c.685delA	c.(685-687)atfs	p.N229fs		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CCTGAAAATTAATTCCACTTC	0.403													11	68	---	---	---	---					
B3GAT1	27087	broad.mit.edu	37	11	134257463	134257464	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr11:134257463_134257464insT	ENST00000524765.1	-	2	4634_4635	c.90_91insA	c.(88-93)gcccctfs	p.AP30fs	B3GAT1_ENST00000537389.1_Frame_Shift_Ins_p.AP43fs|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000312527.4_Frame_Shift_Ins_p.AP30fs|B3GAT1_ENST00000392580.1_Frame_Shift_Ins_p.AP30fs			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	30					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)		GCGAGCAGGGGTGCGAGGGTGC	0.619													10	42	---	---	---	---					
MYCBP2	23077	broad.mit.edu	37	13	77672094	77672094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr13:77672094delA	ENST00000407578.2	-	56	9461	c.9195delT	c.(9193-9195)cafs	p.H3065fs	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Frame_Shift_Del_p.H3027fs|MYCBP2_ENST00000357337.6_Frame_Shift_Del_p.H3027fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3027					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTATAGGAGCATGTTCTTTGG	0.368													12	65	---	---	---	---					
BRD7	29117	broad.mit.edu	37	16	50367574	50367574	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:50367574delT	ENST00000394688.3	-	8	1081	c.922delA	c.(922-924)gcfs	p.S308fs	BRD7_ENST00000394689.2_Frame_Shift_Del_p.S308fs			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	308					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				AAATTATTGCTTTTAAACTTA	0.363													38	184	---	---	---	---					
ZNF276	92822	broad.mit.edu	37	16	89799752	89799752	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:89799752delT	ENST00000289816.5	+	7	1299	c.987delT	c.(985-987)tcfs	p.S329fs	ZNF276_ENST00000446326.2_Frame_Shift_Del_p.S190fs|ZNF276_ENST00000443381.2_Frame_Shift_Del_p.S404fs|ZNF276_ENST00000568064.1_Frame_Shift_Del_p.S312fs	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCAAGAAGTCTGAAGAACCAA	0.473													12	137	---	---	---	---					
SPIRE2	84501	broad.mit.edu	37	16	89895030	89895030	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr16:89895030delG	ENST00000378247.3	+	1	115	c.72delG	c.(70-72)ctfs	p.L24fs	SPIRE2_ENST00000564878.1_Intron|SPIRE2_ENST00000563972.1_Frame_Shift_Del_p.L24fs|SPIRE2_ENST00000393062.2_Frame_Shift_Del_p.L24fs	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	24	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		AGCTGTCCCTGGAGGAGGTGC	0.801											OREG0006581|OREG0006582	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=SPIRE2|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	2	4	---	---	---	---					
RP11-51L5.5	0	broad.mit.edu	37	17	60368374	60368374	+	RNA	DEL	A	A	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr17:60368374delA	ENST00000602493.1	-	0	273																											AGTAACAATTAAAAAAAAACT	0.289													3	6	---	---	---	---					
PTPRS	5802	broad.mit.edu	37	19	5244193	5244193	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:5244193delG	ENST00000372412.4	-	11	1525	c.1292delC	c.(1291-1293)cgfs	p.P431fs	PTPRS_ENST00000353284.2_Frame_Shift_Del_p.P417fs|PTPRS_ENST00000348075.2_Frame_Shift_Del_p.P417fs|PTPRS_ENST00000262963.6_Frame_Shift_Del_p.P426fs|PTPRS_ENST00000357368.4_Frame_Shift_Del_p.P430fs|PTPRS_ENST00000587303.1_Frame_Shift_Del_p.P430fs|PTPRS_ENST00000592099.1_Frame_Shift_Del_p.P417fs|PTPRS_ENST00000588012.1_Frame_Shift_Del_p.P417fs|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	430	Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CACGTTCCGCGGCGCGCTGGC	0.701													14	82	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328	byFrequency	TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)ggc>g	p.EG705del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586													8	178	---	---	---	---					
MIR3648-1	100500862	broad.mit.edu	37	21	9825852	9825853	+	RNA	INS	-	-	A			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chr21:9825852_9825853insA	ENST00000581792.1	+	0	21_22					NR_037421.1																						gcggcggtggtggggggagccg	0.837													2	4	---	---	---	---					
ESX1	80712	broad.mit.edu	37	X	103494988	103494988	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GF-A6C9-06A-11D-A30X-08	TCGA-GF-A6C9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb0af23c-51dc-4a2f-b3d1-3fcded031b52	8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77	g.chrX:103494988delA	ENST00000372588.4	-	4	1225	c.1142delT	c.(1141-1143)ggfs	p.V381fs		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	381					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						AGTGTGAGGCACATGTGACCT	0.612													13	39	---	---	---	---					
